ID HXA1_HUMAN Reviewed; 335 AA. AC P49639; A0A2R8Y4R9; A4D184; B2R8U7; O43363; DT 01-FEB-1996, integrated into UniProtKB/Swiss-Prot. DT 02-OCT-2024, sequence version 3. DT 02-SEP-2026, entry version 227. DE RecName: Full=Homeobox protein Hox-A1; DE AltName: Full=Homeobox protein Hox-1F; GN Name=HOXA1; Synonyms=HOX1F; OS Homo sapiens (Human). OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; OC Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; OC Homo. OX NCBI_TaxID=9606; RN [1] RP NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 3), AND VARIANT HIS-73. RC TISSUE=Ovary; RX PubMed=7622051; DOI=10.1016/0378-1119(95)92712-g; RA Hong Y.S., Kim S.Y., Bhattacharya A., Pratt D.R., Hong W.K., Tainsky M.A.; RT "Structure and function of the HOX A1 human homeobox gene cDNA."; RL Gene 159:209-214(1995). RN [2] RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 3). RX PubMed=14702039; DOI=10.1038/ng1285; RA Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., RA Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., RA Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S., RA Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., RA Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., RA Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., RA Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., RA Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., RA Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., RA Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., RA Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., RA Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., RA Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., RA Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., RA Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., RA Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., RA Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., RA Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., RA Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., RA Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., RA Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., RA Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., RA Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., RA Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., RA Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., RA Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., RA Isogai T., Sugano S.; RT "Complete sequencing and characterization of 21,243 full-length human RT cDNAs."; RL Nat. Genet. 36:40-45(2004). RN [3] RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA], AND VARIANT HIS-73. RX PubMed=12690205; DOI=10.1126/science.1083423; RA Scherer S.W., Cheung J., MacDonald J.R., Osborne L.R., Nakabayashi K., RA Herbrick J.-A., Carson A.R., Parker-Katiraee L., Skaug J., Khaja R., RA Zhang J., Hudek A.K., Li M., Haddad M., Duggan G.E., Fernandez B.A., RA Kanematsu E., Gentles S., Christopoulos C.C., Choufani S., Kwasnicka D., RA Zheng X.H., Lai Z., Nusskern D.R., Zhang Q., Gu Z., Lu F., Zeesman S., RA Nowaczyk M.J., Teshima I., Chitayat D., Shuman C., Weksberg R., RA Zackai E.H., Grebe T.A., Cox S.R., Kirkpatrick S.J., Rahman N., RA Friedman J.M., Heng H.H.Q., Pelicci P.G., Lo-Coco F., Belloni E., RA Shaffer L.G., Pober B., Morton C.C., Gusella J.F., Bruns G.A.P., Korf B.R., RA Quade B.J., Ligon A.H., Ferguson H., Higgins A.W., Leach N.T., RA Herrick S.R., Lemyre E., Farra C.G., Kim H.-G., Summers A.M., Gripp K.W., RA Roberts W., Szatmari P., Winsor E.J.T., Grzeschik K.-H., Teebi A., RA Minassian B.A., Kere J., Armengol L., Pujana M.A., Estivill X., RA Wilson M.D., Koop B.F., Tosi S., Moore G.E., Boright A.P., Zlotorynski E., RA Kerem B., Kroisel P.M., Petek E., Oscier D.G., Mould S.J., Doehner H., RA Doehner K., Rommens J.M., Vincent J.B., Venter J.C., Li P.W., Mural R.J., RA Adams M.D., Tsui L.-C.; RT "Human chromosome 7: DNA sequence and biology."; RL Science 300:767-772(2003). RN [4] RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA], AND VARIANT HIS-73. RA Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M., RA Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J., RA Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S., RA Turner R., Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H., RA Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K., RA Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D., RA Hunkapiller M.W., Myers E.W., Venter J.C.; RL Submitted (JUL-2005) to the EMBL/GenBank/DDBJ databases. RN [5] RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA]. RX PubMed=12853948; DOI=10.1038/nature01782; RA Hillier L.W., Fulton R.S., Fulton L.A., Graves T.A., Pepin K.H., RA Wagner-McPherson C., Layman D., Maas J., Jaeger S., Walker R., Wylie K., RA Sekhon M., Becker M.C., O'Laughlin M.D., Schaller M.E., Fewell G.A., RA Delehaunty K.D., Miner T.L., Nash W.E., Cordes M., Du H., Sun H., RA Edwards J., Bradshaw-Cordum H., Ali J., Andrews S., Isak A., Vanbrunt A., RA Nguyen C., Du F., Lamar B., Courtney L., Kalicki J., Ozersky P., RA Bielicki L., Scott K., Holmes A., Harkins R., Harris A., Strong C.M., RA Hou S., Tomlinson C., Dauphin-Kohlberg S., Kozlowicz-Reilly A., Leonard S., RA Rohlfing T., Rock S.M., Tin-Wollam A.-M., Abbott A., Minx P., Maupin R., RA Strowmatt C., Latreille P., Miller N., Johnson D., Murray J., RA Woessner J.P., Wendl M.C., Yang S.-P., Schultz B.R., Wallis J.W., RA Spieth J., Bieri T.A., Nelson J.O., Berkowicz N., Wohldmann P.E., RA Cook L.L., Hickenbotham M.T., Eldred J., Williams D., Bedell J.A., RA Mardis E.R., Clifton S.W., Chissoe S.L., Marra M.A., Raymond C., Haugen E., RA Gillett W., Zhou Y., James R., Phelps K., Iadanoto S., Bubb K., Simms E., RA Levy R., Clendenning J., Kaul R., Kent W.J., Furey T.S., Baertsch R.A., RA Brent M.R., Keibler E., Flicek P., Bork P., Suyama M., Bailey J.A., RA Portnoy M.E., Torrents D., Chinwalla A.T., Gish W.R., Eddy S.R., RA McPherson J.D., Olson M.V., Eichler E.E., Green E.D., Waterston R.H., RA Wilson R.K.; RT "The DNA sequence of human chromosome 7."; RL Nature 424:157-164(2003). RN [6] RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 3), AND VARIANT HIS-73. RC TISSUE=Skin; RX PubMed=15489334; DOI=10.1101/gr.2596504; RG The MGC Project Team; RT "The status, quality, and expansion of the NIH full-length cDNA project: RT the Mammalian Gene Collection (MGC)."; RL Genome Res. 14:2121-2127(2004). RN [7] RP NUCLEOTIDE SEQUENCE [MRNA] OF 6-335 (ISOFORMS 1; 2 AND 3), AND VARIANT RP HIS-73. RX PubMed=7488013; DOI=10.1006/bbrc.1995.2522; RA Chariot A., Moreau L., Senterre G., Sobel M., Castronovo V.; RT "Retinoic acid induces three newly cloned HOXA1 transcripts in MCF7 breast RT cancer cells."; RL Biochem. Biophys. Res. Commun. 215:713-720(1995). RN [8] RP INTERACTION WITH PBX1. RX PubMed=9191052; DOI=10.1038/sj.onc.1201097; RA Knoepfler P.S., Kamps M.P.; RT "The highest affinity DNA element bound by Pbx complexes in t(1;19) RT leukemic cells fails to mediate cooperative DNA-binding or cooperative RT transactivation by E2a-Pbx1 and class I Hox proteins - evidence for RT selective targetting of E2a-Pbx1 to a subset of Pbx-recognition elements."; RL Oncogene 14:2521-2531(1997). RN [9] RP VARIANT HIS-73. RX PubMed=11091361; RX DOI=10.1002/1096-9926(200012)62:6<393::aid-tera6>3.0.co;2-v; RA Ingram J.L., Stodgell C.J., Hyman S.L., Figlewicz D.A., Weitkamp L.R., RA Rodier P.M.; RT "Discovery of allelic variants of HOXA1 and HOXB1: genetic susceptibility RT to autism spectrum disorders."; RL Teratology 62:393-405(2000). RN [10] RP INVOLVEMENT IN ABDS AND BSAS. RX PubMed=16155570; DOI=10.1038/ng1636; RA Tischfield M.A., Bosley T.M., Salih M.A.M., Alorainy I.A., Sener E.C., RA Nester M.J., Oystreck D.T., Chan W.-M., Andrews C., Erickson R.P., RA Engle E.C.; RT "Homozygous HOXA1 mutations disrupt human brainstem, inner ear, RT cardiovascular and cognitive development."; RL Nat. Genet. 37:1035-1037(2005). CC -!- FUNCTION: Sequence-specific transcription factor (By similarity). CC Regulates multiple developmental processes including brainstem, inner CC and outer ear, abducens nerve and cardiovascular development and CC morphogenesis as well as cognition and behavior (PubMed:16155570). Also CC part of a developmental regulatory system that provides cells with CC specific positional identities on the anterior-posterior axis. Acts on CC the anterior body structures. Seems to act in the maintenance and/or CC generation of hindbrain segments (By similarity). Activates CC transcription in the presence of PBX1A and PKNOX1 (By similarity). CC {ECO:0000250|UniProtKB:P09022, ECO:0000250|UniProtKB:Q90423, CC ECO:0000269|PubMed:16155570}. CC -!- SUBUNIT: Interacts with OGT (via TPR repeats domain); the interaction CC takes place mainly in the nucleus (By similarity). Forms a DNA-binding CC heterodimer with transcription factor PBX1 (PubMed:9191052). CC {ECO:0000250|UniProtKB:P09022, ECO:0000269|PubMed:9191052}. CC -!- INTERACTION: CC P49639; O43184-4: ADAM12; NbExp=3; IntAct=EBI-740785, EBI-12006944; CC P49639; Q6UY14-3: ADAMTSL4; NbExp=10; IntAct=EBI-740785, EBI-10173507; CC P49639; P21549: AGXT; NbExp=3; IntAct=EBI-740785, EBI-727098; CC P49639; Q9NP73-4: ALG13; NbExp=3; IntAct=EBI-740785, EBI-10186621; CC P49639; P05187: ALPP; NbExp=7; IntAct=EBI-740785, EBI-1211484; CC P49639; Q9Y4X0-3: AMMECR1; NbExp=3; IntAct=EBI-740785, EBI-12823597; CC P49639; A2BDD9: AMOT; NbExp=3; IntAct=EBI-740785, EBI-17286414; CC P49639; Q49AR9: ANKS1A; NbExp=3; IntAct=EBI-740785, EBI-11954519; CC P49639; Q03989: ARID5A; NbExp=3; IntAct=EBI-740785, EBI-948603; CC P49639; Q9H6L4: ARMC7; NbExp=3; IntAct=EBI-740785, EBI-742909; CC P49639; Q674R7-2: ATG9B; NbExp=3; IntAct=EBI-740785, EBI-12837280; CC P49639; Q9Y6H3: ATP23; NbExp=3; IntAct=EBI-740785, EBI-12811889; CC P49639; O95429: BAG4; NbExp=3; IntAct=EBI-740785, EBI-2949658; CC P49639; Q8TBE0: BAHD1; NbExp=3; IntAct=EBI-740785, EBI-742750; CC P49639; Q8N1L9: BATF2; NbExp=3; IntAct=EBI-740785, EBI-742695; CC P49639; P62952: BLCAP; NbExp=3; IntAct=EBI-740785, EBI-3895726; CC P49639; Q9H2G9: BLZF1; NbExp=6; IntAct=EBI-740785, EBI-2548012; CC P49639; J3KQ12: BSCL2; NbExp=6; IntAct=EBI-740785, EBI-11532900; CC P49639; P41223: BUD31; NbExp=3; IntAct=EBI-740785, EBI-3904603; CC P49639; Q8NEC5: CATSPER1; NbExp=3; IntAct=EBI-740785, EBI-744545; CC P49639; Q96HB5: CCDC120; NbExp=5; IntAct=EBI-740785, EBI-744556; CC P49639; P48745: CCN3; NbExp=4; IntAct=EBI-740785, EBI-3904822; CC P49639; O95388: CCN4; NbExp=5; IntAct=EBI-740785, EBI-1050638; CC P49639; O76076: CCN5; NbExp=3; IntAct=EBI-740785, EBI-2850068; CC P49639; O75909-2: CCNK; NbExp=5; IntAct=EBI-740785, EBI-12010594; CC P49639; P48643: CCT5; NbExp=3; IntAct=EBI-740785, EBI-355710; CC P49639; Q04900: CD164; NbExp=3; IntAct=EBI-740785, EBI-2115896; CC P49639; Q6NVV7: CDPF1; NbExp=3; IntAct=EBI-740785, EBI-2802782; CC P49639; Q5T4B2: CERCAM; NbExp=3; IntAct=EBI-740785, EBI-12261896; CC P49639; Q9H5F2: CFAP68; NbExp=3; IntAct=EBI-740785, EBI-718615; CC P49639; P27918: CFP; NbExp=3; IntAct=EBI-740785, EBI-9038570; CC P49639; Q9UKJ5: CHIC2; NbExp=4; IntAct=EBI-740785, EBI-741528; CC P49639; Q9H2X0: CHRD; NbExp=4; IntAct=EBI-740785, EBI-947551; CC P49639; Q6WN34-2: CHRDL2; NbExp=3; IntAct=EBI-740785, EBI-12593838; CC P49639; Q9BYD5: CNFN; NbExp=3; IntAct=EBI-740785, EBI-12819063; CC P49639; Q8NE01: CNNM3; NbExp=5; IntAct=EBI-740785, EBI-741032; CC P49639; P27658: COL8A1; NbExp=6; IntAct=EBI-740785, EBI-747133; CC P49639; Q02930-3: CREB5; NbExp=5; IntAct=EBI-740785, EBI-10192698; CC P49639; O60888-3: CUTA; NbExp=3; IntAct=EBI-740785, EBI-10979071; CC P49639; Q08AG9: CYP21A2; NbExp=5; IntAct=EBI-740785, EBI-14156412; CC P49639; A8MQ03: CYSRT1; NbExp=6; IntAct=EBI-740785, EBI-3867333; CC P49639; G5E9A7: DMWD; NbExp=3; IntAct=EBI-740785, EBI-10976677; CC P49639; Q92608: DOCK2; NbExp=3; IntAct=EBI-740785, EBI-448771; CC P49639; Q8IZD9: DOCK3; NbExp=3; IntAct=EBI-740785, EBI-1752361; CC P49639; Q7L591-3: DOK3; NbExp=3; IntAct=EBI-740785, EBI-10694655; CC P49639; Q86UW9: DTX2; NbExp=6; IntAct=EBI-740785, EBI-740376; CC P49639; Q9Y6W6: DUSP10; NbExp=5; IntAct=EBI-740785, EBI-3443946; CC P49639; Q12805: EFEMP1; NbExp=4; IntAct=EBI-740785, EBI-536772; CC P49639; Q9UHF1: EGFL7; NbExp=4; IntAct=EBI-740785, EBI-949532; CC P49639; Q9H0I2: ENKD1; NbExp=5; IntAct=EBI-740785, EBI-744099; CC P49639; Q9UM22: EPDR1; NbExp=3; IntAct=EBI-740785, EBI-946972; CC P49639; Q9NQ30: ESM1; NbExp=3; IntAct=EBI-740785, EBI-12260294; CC P49639; Q92731-3: ESR2; NbExp=3; IntAct=EBI-740785, EBI-12259414; CC P49639; Q9NVM1: EVA1B; NbExp=3; IntAct=EBI-740785, EBI-10314666; CC P49639; Q0VG06-3: FAAP100; NbExp=3; IntAct=EBI-740785, EBI-10226932; CC P49639; Q5XKK7: FAM219B; NbExp=3; IntAct=EBI-740785, EBI-12290965; CC P49639; A4D161: FAM221A; NbExp=7; IntAct=EBI-740785, EBI-11960181; CC P49639; P23142-4: FBLN1; NbExp=3; IntAct=EBI-740785, EBI-11956479; CC P49639; Q13643: FHL3; NbExp=3; IntAct=EBI-740785, EBI-741101; CC P49639; Q5TD97: FHL5; NbExp=3; IntAct=EBI-740785, EBI-750641; CC P49639; O75593: FOXH1; NbExp=3; IntAct=EBI-740785, EBI-1759806; CC P49639; O15353: FOXN1; NbExp=3; IntAct=EBI-740785, EBI-11319000; CC P49639; O43559: FRS3; NbExp=7; IntAct=EBI-740785, EBI-725515; CC P49639; P19883: FST; NbExp=3; IntAct=EBI-740785, EBI-1571188; CC P49639; Q9BTY2: FUCA2; NbExp=3; IntAct=EBI-740785, EBI-9050116; CC P49639; O95995: GAS8; NbExp=3; IntAct=EBI-740785, EBI-1052570; CC P49639; P15976: GATA1; NbExp=3; IntAct=EBI-740785, EBI-3909284; CC P49639; P15976-2: GATA1; NbExp=3; IntAct=EBI-740785, EBI-9090198; CC P49639; O75603: GCM2; NbExp=3; IntAct=EBI-740785, EBI-10188645; CC P49639; Q99988: GDF15; NbExp=3; IntAct=EBI-740785, EBI-2116863; CC P49639; Q9Y223-2: GNE; NbExp=5; IntAct=EBI-740785, EBI-11975289; CC P49639; P14770: GP9; NbExp=4; IntAct=EBI-740785, EBI-1754109; CC P49639; Q6PI77: GPRASP3; NbExp=3; IntAct=EBI-740785, EBI-11519926; CC P49639; Q13227: GPS2; NbExp=3; IntAct=EBI-740785, EBI-713355; CC P49639; P28799: GRN; NbExp=18; IntAct=EBI-740785, EBI-747754; CC P49639; P28799-2: GRN; NbExp=3; IntAct=EBI-740785, EBI-25860013; CC P49639; P09211: GSTP1; NbExp=3; IntAct=EBI-740785, EBI-353467; CC P49639; Q96NT3-2: GUCD1; NbExp=5; IntAct=EBI-740785, EBI-11978177; CC P49639; P07686: HEXB; NbExp=3; IntAct=EBI-740785, EBI-7133736; CC P49639; Q96MH2: HEXIM2; NbExp=3; IntAct=EBI-740785, EBI-5460660; CC P49639; Q9UBP5: HEY2; NbExp=3; IntAct=EBI-740785, EBI-750630; CC P49639; P49639: HOXA1; NbExp=6; IntAct=EBI-740785, EBI-740785; CC P49639; P17482: HOXB9; NbExp=3; IntAct=EBI-740785, EBI-745290; CC P49639; O43593: HR; NbExp=3; IntAct=EBI-740785, EBI-2880706; CC P49639; Q9H2F3: HSD3B7; NbExp=3; IntAct=EBI-740785, EBI-3918847; CC P49639; Q02535: ID3; NbExp=3; IntAct=EBI-740785, EBI-1387094; CC P49639; Q6UW32: IGFL1; NbExp=3; IntAct=EBI-740785, EBI-3870426; CC P49639; Q86VF2-5: IGFN1; NbExp=3; IntAct=EBI-740785, EBI-11955401; CC P49639; Q0VD86: INCA1; NbExp=3; IntAct=EBI-740785, EBI-6509505; CC P49639; Q9C086: INO80B; NbExp=5; IntAct=EBI-740785, EBI-715611; CC P49639; P78412: IRX6; NbExp=3; IntAct=EBI-740785, EBI-12100506; CC P49639; P16144-2: ITGB4; NbExp=3; IntAct=EBI-740785, EBI-11051601; CC P49639; Q7L273: KCTD9; NbExp=5; IntAct=EBI-740785, EBI-4397613; CC P49639; O60333-2: KIF1B; NbExp=3; IntAct=EBI-740785, EBI-10975473; CC P49639; Q5T749: KPRP; NbExp=8; IntAct=EBI-740785, EBI-10981970; CC P49639; Q15323: KRT31; NbExp=7; IntAct=EBI-740785, EBI-948001; CC P49639; Q14525: KRT33B; NbExp=3; IntAct=EBI-740785, EBI-1049638; CC P49639; O76011: KRT34; NbExp=3; IntAct=EBI-740785, EBI-1047093; CC P49639; Q92764: KRT35; NbExp=3; IntAct=EBI-740785, EBI-1058674; CC P49639; O76014: KRT37; NbExp=3; IntAct=EBI-740785, EBI-1045716; CC P49639; O76015: KRT38; NbExp=6; IntAct=EBI-740785, EBI-1047263; CC P49639; Q6A162: KRT40; NbExp=3; IntAct=EBI-740785, EBI-10171697; CC P49639; Q14533: KRT81; NbExp=5; IntAct=EBI-740785, EBI-739648; CC P49639; Q9NSB4: KRT82; NbExp=3; IntAct=EBI-740785, EBI-1045341; CC P49639; P78385: KRT83; NbExp=8; IntAct=EBI-740785, EBI-10221390; CC P49639; Q07627: KRTAP1-1; NbExp=3; IntAct=EBI-740785, EBI-11959885; CC P49639; Q8IUG1: KRTAP1-3; NbExp=5; IntAct=EBI-740785, EBI-11749135; CC P49639; Q9BYS1: KRTAP1-5; NbExp=5; IntAct=EBI-740785, EBI-11741292; CC P49639; P60014: KRTAP10-10; NbExp=3; IntAct=EBI-740785, EBI-11955579; CC P49639; P60412: KRTAP10-11; NbExp=9; IntAct=EBI-740785, EBI-10217483; CC P49639; P60372: KRTAP10-4; NbExp=3; IntAct=EBI-740785, EBI-10178153; CC P49639; P60370: KRTAP10-5; NbExp=6; IntAct=EBI-740785, EBI-10172150; CC P49639; P60409: KRTAP10-7; NbExp=5; IntAct=EBI-740785, EBI-10172290; CC P49639; P60410: KRTAP10-8; NbExp=9; IntAct=EBI-740785, EBI-10171774; CC P49639; P60411: KRTAP10-9; NbExp=8; IntAct=EBI-740785, EBI-10172052; CC P49639; Q8IUC1: KRTAP11-1; NbExp=5; IntAct=EBI-740785, EBI-1052037; CC P49639; P59990: KRTAP12-1; NbExp=13; IntAct=EBI-740785, EBI-10210845; CC P49639; P59991: KRTAP12-2; NbExp=3; IntAct=EBI-740785, EBI-10176379; CC P49639; P60328: KRTAP12-3; NbExp=6; IntAct=EBI-740785, EBI-11953334; CC P49639; P60329: KRTAP12-4; NbExp=10; IntAct=EBI-740785, EBI-10176396; CC P49639; Q52LG2: KRTAP13-2; NbExp=5; IntAct=EBI-740785, EBI-11953846; CC P49639; Q3SY46: KRTAP13-3; NbExp=3; IntAct=EBI-740785, EBI-10241252; CC P49639; Q3LI77: KRTAP13-4; NbExp=3; IntAct=EBI-740785, EBI-11953996; CC P49639; Q3LI76: KRTAP15-1; NbExp=7; IntAct=EBI-740785, EBI-11992140; CC P49639; Q3LI70: KRTAP19-6; NbExp=3; IntAct=EBI-740785, EBI-12805508; CC P49639; Q3SYF9: KRTAP19-7; NbExp=3; IntAct=EBI-740785, EBI-10241353; CC P49639; Q9BYR9: KRTAP2-4; NbExp=3; IntAct=EBI-740785, EBI-14065470; CC P49639; A1A580: KRTAP23-1; NbExp=3; IntAct=EBI-740785, EBI-10171734; CC P49639; Q6PEX3: KRTAP26-1; NbExp=8; IntAct=EBI-740785, EBI-3957672; CC P49639; Q9BYR7: KRTAP3-2; NbExp=6; IntAct=EBI-740785, EBI-751260; CC P49639; Q9BYR6: KRTAP3-3; NbExp=3; IntAct=EBI-740785, EBI-3957694; CC P49639; Q9BYQ7: KRTAP4-1; NbExp=3; IntAct=EBI-740785, EBI-34579671; CC P49639; Q9BYQ6: KRTAP4-11; NbExp=11; IntAct=EBI-740785, EBI-10302392; CC P49639; Q9BQ66: KRTAP4-12; NbExp=9; IntAct=EBI-740785, EBI-739863; CC P49639; Q9BYR5: KRTAP4-2; NbExp=10; IntAct=EBI-740785, EBI-10172511; CC P49639; Q9BYR3: KRTAP4-4; NbExp=5; IntAct=EBI-740785, EBI-11958132; CC P49639; Q9BYR2: KRTAP4-5; NbExp=7; IntAct=EBI-740785, EBI-11993254; CC P49639; Q9BYR0: KRTAP4-7; NbExp=3; IntAct=EBI-740785, EBI-10302547; CC P49639; Q6L8G4: KRTAP5-11; NbExp=5; IntAct=EBI-740785, EBI-11993296; CC P49639; Q701N4: KRTAP5-2; NbExp=5; IntAct=EBI-740785, EBI-11958178; CC P49639; Q6L8H2: KRTAP5-3; NbExp=5; IntAct=EBI-740785, EBI-11974251; CC P49639; Q6L8H1: KRTAP5-4; NbExp=8; IntAct=EBI-740785, EBI-11963072; CC P49639; Q6L8G9: KRTAP5-6; NbExp=9; IntAct=EBI-740785, EBI-10250562; CC P49639; P26371: KRTAP5-9; NbExp=12; IntAct=EBI-740785, EBI-3958099; CC P49639; Q3LI64: KRTAP6-1; NbExp=3; IntAct=EBI-740785, EBI-12111050; CC P49639; Q3LI66: KRTAP6-2; NbExp=3; IntAct=EBI-740785, EBI-11962084; CC P49639; Q3LI67: KRTAP6-3; NbExp=6; IntAct=EBI-740785, EBI-22311199; CC P49639; Q9BYQ4: KRTAP9-2; NbExp=13; IntAct=EBI-740785, EBI-1044640; CC P49639; Q9BYQ3: KRTAP9-3; NbExp=8; IntAct=EBI-740785, EBI-1043191; CC P49639; Q9BYQ2: KRTAP9-4; NbExp=3; IntAct=EBI-740785, EBI-10185730; CC P49639; Q9BYQ0: KRTAP9-8; NbExp=8; IntAct=EBI-740785, EBI-11958364; CC P49639; Q14847-2: LASP1; NbExp=3; IntAct=EBI-740785, EBI-9088686; CC P49639; Q5T7P2: LCE1A; NbExp=6; IntAct=EBI-740785, EBI-11962058; CC P49639; Q5T7P3: LCE1B; NbExp=13; IntAct=EBI-740785, EBI-10245913; CC P49639; Q5T751: LCE1C; NbExp=3; IntAct=EBI-740785, EBI-12224199; CC P49639; Q5T752: LCE1D; NbExp=5; IntAct=EBI-740785, EBI-11741311; CC P49639; Q5T754: LCE1F; NbExp=6; IntAct=EBI-740785, EBI-11958008; CC P49639; Q5TA79: LCE2A; NbExp=3; IntAct=EBI-740785, EBI-10246607; CC P49639; O14633: LCE2B; NbExp=5; IntAct=EBI-740785, EBI-11478468; CC P49639; Q5TA81: LCE2C; NbExp=8; IntAct=EBI-740785, EBI-11973993; CC P49639; Q5TA82: LCE2D; NbExp=8; IntAct=EBI-740785, EBI-10246750; CC P49639; Q5T5A8: LCE3C; NbExp=3; IntAct=EBI-740785, EBI-10245291; CC P49639; Q5T5B0: LCE3E; NbExp=3; IntAct=EBI-740785, EBI-10245456; CC P49639; Q5TA78: LCE4A; NbExp=9; IntAct=EBI-740785, EBI-10246358; CC P49639; Q5TCM9: LCE5A; NbExp=8; IntAct=EBI-740785, EBI-11955689; CC P49639; Q9UHV8: LGALS13; NbExp=6; IntAct=EBI-740785, EBI-3957707; CC P49639; P56470: LGALS4; NbExp=3; IntAct=EBI-740785, EBI-720805; CC P49639; O60663-2: LMX1B; NbExp=3; IntAct=EBI-740785, EBI-10258690; CC P49639; Q8TBB1: LNX1; NbExp=3; IntAct=EBI-740785, EBI-739832; CC P49639; Q17RB8: LONRF1; NbExp=3; IntAct=EBI-740785, EBI-2341787; CC P49639; Q8N5G2: MACO1; NbExp=3; IntAct=EBI-740785, EBI-2683507; CC P49639; O60336: MAPKBP1; NbExp=5; IntAct=EBI-740785, EBI-947402; CC P49639; Q99750: MDFI; NbExp=7; IntAct=EBI-740785, EBI-724076; CC P49639; P55001: MFAP2; NbExp=3; IntAct=EBI-740785, EBI-2462387; CC P49639; Q13064: MKRN3; NbExp=3; IntAct=EBI-740785, EBI-2340269; CC P49639; Q96JP2: MYO15B; NbExp=3; IntAct=EBI-740785, EBI-7950783; CC P49639; Q86VE0: MYPOP; NbExp=3; IntAct=EBI-740785, EBI-2858213; CC P49639; Q92802: N4BP2L2; NbExp=3; IntAct=EBI-740785, EBI-2514973; CC P49639; O43639: NCK2; NbExp=3; IntAct=EBI-740785, EBI-713635; CC P49639; Q92692-2: NECTIN2; NbExp=3; IntAct=EBI-740785, EBI-6979889; CC P49639; Q14511-2: NEDD9; NbExp=3; IntAct=EBI-740785, EBI-11746523; CC P49639; Q9HC98-4: NEK6; NbExp=3; IntAct=EBI-740785, EBI-11750983; CC P49639; Q99435: NELL2; NbExp=2; IntAct=EBI-740785, EBI-946274; CC P49639; Q99435-2: NELL2; NbExp=3; IntAct=EBI-740785, EBI-17754404; CC P49639; Q8NI38: NFKBID; NbExp=3; IntAct=EBI-740785, EBI-10271199; CC P49639; Q7Z3S9: NOTCH2NLA; NbExp=3; IntAct=EBI-740785, EBI-945833; CC P49639; P0DPK4: NOTCH2NLC; NbExp=3; IntAct=EBI-740785, EBI-22310682; CC P49639; Q6NSM0: NR1D2; NbExp=5; IntAct=EBI-740785, EBI-10250949; CC P49639; Q9HB63: NTN4; NbExp=5; IntAct=EBI-740785, EBI-743459; CC P49639; Q9UBU9: NXF1; NbExp=3; IntAct=EBI-740785, EBI-398874; CC P49639; Q14990: ODF1; NbExp=3; IntAct=EBI-740785, EBI-10234557; CC P49639; Q8WWZ8: OIT3; NbExp=5; IntAct=EBI-740785, EBI-10277776; CC P49639; Q15077: P2RY6; NbExp=5; IntAct=EBI-740785, EBI-10235794; CC P49639; P26367: PAX6; NbExp=3; IntAct=EBI-740785, EBI-747278; CC P49639; P40425: PBX2; NbExp=3; IntAct=EBI-740785, EBI-348489; CC P49639; Q92824-2: PCSK5; NbExp=5; IntAct=EBI-740785, EBI-11956269; CC P49639; Q9UHG3: PCYOX1; NbExp=3; IntAct=EBI-740785, EBI-2908417; CC P49639; Q8N4B1-4: PHETA1; NbExp=3; IntAct=EBI-740785, EBI-14131832; CC P49639; Q13526: PIN1; NbExp=5; IntAct=EBI-740785, EBI-714158; CC P49639; P78337: PITX1; NbExp=5; IntAct=EBI-740785, EBI-748265; CC P49639; Q99697-2: PITX2; NbExp=3; IntAct=EBI-740785, EBI-12138495; CC P49639; Q494U1-3: PLEKHN1; NbExp=3; IntAct=EBI-740785, EBI-12014286; CC P49639; Q9Y342: PLLP; NbExp=3; IntAct=EBI-740785, EBI-3919291; CC P49639; Q9NRY7: PLSCR2; NbExp=3; IntAct=EBI-740785, EBI-3937430; CC P49639; Q9NRY6: PLSCR3; NbExp=5; IntAct=EBI-740785, EBI-750734; CC P49639; Q9NRQ2: PLSCR4; NbExp=5; IntAct=EBI-740785, EBI-769257; CC P49639; P04156: PRNP; NbExp=4; IntAct=EBI-740785, EBI-977302; CC P49639; O75360: PROP1; NbExp=3; IntAct=EBI-740785, EBI-9027467; CC P49639; P20618: PSMB1; NbExp=3; IntAct=EBI-740785, EBI-372273; CC P49639; Q03431: PTH1R; NbExp=3; IntAct=EBI-740785, EBI-2860297; CC P49639; P15151: PVR; NbExp=3; IntAct=EBI-740785, EBI-3919694; CC P49639; P47897: QARS1; NbExp=3; IntAct=EBI-740785, EBI-347462; CC P49639; Q12967-6: RALGDS; NbExp=3; IntAct=EBI-740785, EBI-12005546; CC P49639; P10745: RBP3; NbExp=3; IntAct=EBI-740785, EBI-12806054; CC P49639; Q93062: RBPMS; NbExp=3; IntAct=EBI-740785, EBI-740322; CC P49639; Q9UGC6: RGS17; NbExp=6; IntAct=EBI-740785, EBI-3918154; CC P49639; P49795: RGS19; NbExp=3; IntAct=EBI-740785, EBI-874907; CC P49639; O76081: RGS20; NbExp=5; IntAct=EBI-740785, EBI-1052678; CC P49639; O76081-6: RGS20; NbExp=3; IntAct=EBI-740785, EBI-10178530; CC P49639; Q9H0X6: RNF208; NbExp=3; IntAct=EBI-740785, EBI-751555; CC P49639; Q6UXX9-2: RSPO2; NbExp=3; IntAct=EBI-740785, EBI-12009390; CC P49639; Q9BZR6: RTN4R; NbExp=3; IntAct=EBI-740785, EBI-5240240; CC P49639; Q7Z5V6-2: SAXO4; NbExp=5; IntAct=EBI-740785, EBI-12000762; CC P49639; P09683: SCT; NbExp=3; IntAct=EBI-740785, EBI-12844598; CC P49639; O00560: SDCBP; NbExp=6; IntAct=EBI-740785, EBI-727004; CC P49639; O15304-2: SIVA1; NbExp=3; IntAct=EBI-740785, EBI-12372219; CC P49639; Q8IY34: SLC15A3; NbExp=3; IntAct=EBI-740785, EBI-12179023; CC P49639; Q9UHI7-3: SLC23A1; NbExp=3; IntAct=EBI-740785, EBI-11998660; CC P49639; O75093: SLIT1; NbExp=4; IntAct=EBI-740785, EBI-947791; CC P49639; P03973: SLPI; NbExp=3; IntAct=EBI-740785, EBI-355293; CC P49639; P14678-2: SNRPB; NbExp=3; IntAct=EBI-740785, EBI-372475; CC P49639; P09234: SNRPC; NbExp=5; IntAct=EBI-740785, EBI-766589; CC P49639; Q7Z6I5: SPATA12; NbExp=3; IntAct=EBI-740785, EBI-10696971; CC P49639; Q8TC71: SPATA18; NbExp=3; IntAct=EBI-740785, EBI-11334239; CC P49639; Q7Z699: SPRED1; NbExp=3; IntAct=EBI-740785, EBI-5235340; CC P49639; O43609: SPRY1; NbExp=8; IntAct=EBI-740785, EBI-3866665; CC P49639; O43610: SPRY3; NbExp=3; IntAct=EBI-740785, EBI-12290641; CC P49639; Q9C004: SPRY4; NbExp=3; IntAct=EBI-740785, EBI-354861; CC P49639; Q9Y2M2-2: SSUH2; NbExp=5; IntAct=EBI-740785, EBI-12231891; CC P49639; O75558: STX11; NbExp=3; IntAct=EBI-740785, EBI-714135; CC P49639; O43463: SUV39H1; NbExp=2; IntAct=EBI-740785, EBI-349968; CC P49639; Q8IV04: TBC1D10C; NbExp=6; IntAct=EBI-740785, EBI-10261452; CC P49639; Q96SF7: TBX15; NbExp=3; IntAct=EBI-740785, EBI-10191361; CC P49639; Q9Y242: TCF19; NbExp=3; IntAct=EBI-740785, EBI-7413767; CC P49639; Q8WW24: TEKT4; NbExp=3; IntAct=EBI-740785, EBI-750487; CC P49639; Q96M29: TEKT5; NbExp=3; IntAct=EBI-740785, EBI-10239812; CC P49639; P01137: TGFB1; NbExp=3; IntAct=EBI-740785, EBI-779636; CC P49639; Q96PF1: TGM7; NbExp=3; IntAct=EBI-740785, EBI-12029034; CC P49639; Q9BT49: THAP7; NbExp=3; IntAct=EBI-740785, EBI-741350; CC P49639; Q08117-2: TLE5; NbExp=3; IntAct=EBI-740785, EBI-11741437; CC P49639; P0DTL5: TMEM276; NbExp=3; IntAct=EBI-740785, EBI-11997340; CC P49639; Q63HR2: TNS2; NbExp=3; IntAct=EBI-740785, EBI-949753; CC P49639; Q13077: TRAF1; NbExp=3; IntAct=EBI-740785, EBI-359224; CC P49639; Q12933: TRAF2; NbExp=3; IntAct=EBI-740785, EBI-355744; CC P49639; Q9BUZ4: TRAF4; NbExp=3; IntAct=EBI-740785, EBI-3650647; CC P49639; Q8IWZ5: TRIM42; NbExp=12; IntAct=EBI-740785, EBI-5235829; CC P49639; Q9BZR9: TRIM8; NbExp=3; IntAct=EBI-740785, EBI-2340370; CC P49639; O14817: TSPAN4; NbExp=3; IntAct=EBI-740785, EBI-8652667; CC P49639; Q9BZL1: UBL5; NbExp=3; IntAct=EBI-740785, EBI-607755; CC P49639; Q9H9P5-5: UNKL; NbExp=3; IntAct=EBI-740785, EBI-12817837; CC P49639; Q6EMK4: VASN; NbExp=5; IntAct=EBI-740785, EBI-10249550; CC P49639; Q2TAL6: VWC2; NbExp=6; IntAct=EBI-740785, EBI-11957238; CC P49639; B2RUY7: VWC2L; NbExp=3; IntAct=EBI-740785, EBI-11747707; CC P49639; Q9BRX9: WDR83; NbExp=3; IntAct=EBI-740785, EBI-7705033; CC P49639; Q9NZC7-5: WWOX; NbExp=3; IntAct=EBI-740785, EBI-12040603; CC P49639; Q9GZM5: YIPF3; NbExp=3; IntAct=EBI-740785, EBI-743787; CC P49639; Q05516: ZBTB16; NbExp=3; IntAct=EBI-740785, EBI-711925; CC P49639; Q9NZV7: ZIM2; NbExp=3; IntAct=EBI-740785, EBI-11962760; CC P49639; Q8TAU3: ZNF417; NbExp=5; IntAct=EBI-740785, EBI-740727; CC P49639; Q96SQ5: ZNF587; NbExp=5; IntAct=EBI-740785, EBI-6427977; CC P49639; P0C7X2: ZNF688; NbExp=3; IntAct=EBI-740785, EBI-4395732; CC P49639; Q9H7S9: ZNF703; NbExp=2; IntAct=EBI-740785, EBI-3957070; CC P49639; Q6NX45: ZNF774; NbExp=3; IntAct=EBI-740785, EBI-10251462; CC P49639; Q96EG3: ZNF837; NbExp=5; IntAct=EBI-740785, EBI-11962574; CC P49639; Q8N446: ZNF843; NbExp=3; IntAct=EBI-740785, EBI-6428016; CC P49639; A0A384ME25; NbExp=3; IntAct=EBI-740785, EBI-10211777; CC P49639; Q7Z783; NbExp=6; IntAct=EBI-740785, EBI-9088990; CC P49639; P09022: Hoxa1; Xeno; NbExp=4; IntAct=EBI-740785, EBI-3957603; CC -!- SUBCELLULAR LOCATION: Nucleus {ECO:0000250|UniProtKB:P09022}. CC -!- ALTERNATIVE PRODUCTS: CC Event=Alternative splicing; Named isoforms=3; CC Name=3; Synonyms=36 kDa; CC IsoId=P49639-1; Sequence=Displayed; CC Name=1; Synonyms=14 kDa; CC IsoId=P49639-2; Sequence=VSP_002376, VSP_002377; CC Name=2; Synonyms=24 kDa; CC IsoId=P49639-3; Sequence=VSP_002378, VSP_002379; CC -!- DISEASE: Athabaskan brainstem dysgenesis syndrome (ABDS) [MIM:601536]: CC Characterized by horizontal gaze palsy, sensorineural deafness, central CC hypoventilation, and developmental delay. Some patients had swallowing CC dysfunction, vocal cord paralysis, facial paresis, seizures, and CC cardiac outflow tract anomalies. {ECO:0000269|PubMed:16155570}. CC Note=The disease is caused by variants affecting the gene represented CC in this entry. CC -!- DISEASE: Bosley-Salih-Alorainy syndrome (BSAS) [MIM:601536]: A disease CC characterized by horizontal gaze abnormalities, deafness, facial CC weakness, vascular malformations of the internal carotid arteries and CC cardiac outflow trac. Some patients manifest intellectual disability CC and autism spectrum disorder. Affected individuals do not suffer from CC central hypoventilation. Note=The disease is caused by variants CC affecting the gene represented in this entry. CC -!- MISCELLANEOUS: [Isoform 1]: Lacks the homeobox domain. {ECO:0000305}. CC -!- MISCELLANEOUS: [Isoform 2]: Lacks the homeobox domain. {ECO:0000305}. CC -!- SIMILARITY: Belongs to the Antp homeobox family. Labial subfamily. CC {ECO:0000305}. CC --------------------------------------------------------------------------- CC Copyrighted by the UniProt Consortium, see https://www.uniprot.org/terms CC Distributed under the Creative Commons Attribution (CC BY 4.0) License CC --------------------------------------------------------------------------- DR EMBL; U10421; AAA86954.1; -; mRNA. DR EMBL; AK313514; BAG36294.1; -; mRNA. DR EMBL; CH236948; EAL24228.1; -; Genomic_DNA. DR EMBL; CH471073; EAW93861.1; -; Genomic_DNA. DR EMBL; AC004079; -; NOT_ANNOTATED_CDS; Genomic_DNA. DR EMBL; BC032547; AAH32547.1; -; mRNA. DR EMBL; U37431; AAC50248.1; -; mRNA. DR EMBL; U37431; AAC50249.1; -; mRNA. DR EMBL; U37431; AAC50250.1; -; mRNA. DR EMBL; S79869; AAB35424.2; -; mRNA. DR EMBL; S79871; AAB35425.1; -; mRNA. DR EMBL; S79910; AAB35423.2; -; mRNA. DR CCDS; CCDS5401.1; -. [P49639-1] DR CCDS; CCDS5402.2; -. [P49639-2] DR PIR; G01448; G01448. DR RefSeq; NP_005513.2; NM_005522.5. [P49639-1] DR RefSeq; NP_705873.3; NM_153620.3. [P49639-2] DR AlphaFoldDB; P49639; -. DR SMR; P49639; -. DR BioGRID; 109438; 355. DR ELM; P49639; -. DR FunCoup; P49639; 1670. DR IntAct; P49639; 333. DR MINT; P49639; -. DR NDEx; IQUERY-CP-HOXA1; 3 NDEx IQuery Curated Pathways. DR STRING; 9606.ENSP00000494260; -. DR iPTMnet; P49639; -. DR PhosphoSitePlus; P49639; -. DR BioMuta; HOXA1; -. DR DMDM; 6166216; -. DR jPOST; P49639; -. DR MassIVE; P49639; -. DR PaxDb; 9606-ENSP00000494260; -. DR PeptideAtlas; P49639; -. DR ProteomicsDB; 56033; -. [P49639-1] DR ProteomicsDB; 56034; -. [P49639-2] DR ProteomicsDB; 56035; -. [P49639-3] DR Antibodypedia; 1429; 333 antibodies from 30 providers. DR DNASU; 3198; -. DR Ensembl; ENST00000355633.5; ENSP00000347851.5; ENSG00000105991.10. [P49639-2] DR Ensembl; ENST00000643460.2; ENSP00000494260.2; ENSG00000105991.10. [P49639-1] DR GeneID; 3198; -. DR KEGG; hsa:3198; -. DR MANE-Select; ENST00000643460.2; ENSP00000494260.2; NM_005522.5; NP_005513.2. DR UCSC; uc003sye.4; human. [P49639-1] DR AGR; HGNC:5099; -. DR ClinPGx; PA29376; -. DR CTD; 3198; -. DR DisGeNET; 3198; -. DR GeneCards; HOXA1; -. DR GeneReviews; HOXA1; -. DR HGNC; HGNC:5099; HOXA1. DR MalaCards; HOXA1; -. DR MIM; 142955; gene. DR MIM; 601536; phenotype. DR OpenTargets; ENSG00000105991; -. DR Orphanet; 69739; Athabaskan brainstem dysgenesis syndrome. DR Orphanet; 69737; Bosley-Salih-Alorainy syndrome. DR VEuPathDB; HostDB:ENSG00000105991; -. DR eggNOG; KOG0489; Eukaryota. DR GeneTree; ENSGT00940000157315; -. DR HOGENOM; CLU_058839_1_1_1; -. DR InParanoid; P49639; -. DR OMA; SAQTFDW; -. DR OrthoDB; 6159439at2759; -. DR PAN-GO; P49639; 4 GO annotations based on evolutionary models. DR PhylomeDB; P49639; -. DR PathwayCommons; P49639; -. DR Reactome; R-HSA-5617472; Activation of anterior HOX genes in hindbrain development during early embryogenesis. DR SignaLink; P49639; -. DR SIGNOR; P49639; -. DR Agora; ENSG00000105991; -. DR BioGRID-ORCS; 3198; 13 hits in 1173 CRISPR screens. DR ChiTaRS; HOXA1; human. DR GeneWiki; Homeobox_A1; -. DR GenomeRNAi; 3198; -. DR Pharos; P49639; Tbio. DR PRO; PR:P49639; -. DR Proteomes; UP000005640; Chromosome 7. DR RNAct; P49639; protein. DR Bgee; ENSG00000105991; Expressed in esophagus squamous epithelium and 96 other cell types or tissues. DR GO; GO:0000785; C:chromatin; ISA:NTNU_SB. DR GO; GO:0005634; C:nucleus; ISS:UniProtKB. DR GO; GO:0001228; F:DNA-binding transcription activator activity, RNA polymerase II-specific; IDA:NTNU_SB. DR GO; GO:0000981; F:DNA-binding transcription factor activity, RNA polymerase II-specific; ISA:NTNU_SB. DR GO; GO:0042802; F:identical protein binding; IPI:IntAct. DR GO; GO:0000978; F:RNA polymerase II cis-regulatory region sequence-specific DNA binding; IBA:GO_Central. DR GO; GO:0043565; F:sequence-specific DNA binding; IDA:NTNU_SB. DR GO; GO:1990837; F:sequence-specific double-stranded DNA binding; IDA:ARUK-UCL. DR GO; GO:0021599; P:abducens nerve formation; IMP:DFLAT. DR GO; GO:0009653; P:anatomical structure morphogenesis; IMP:DFLAT. DR GO; GO:0060840; P:artery development; IMP:DFLAT. DR GO; GO:0048844; P:artery morphogenesis; IMP:DFLAT. DR GO; GO:0090102; P:cochlea development; IMP:DFLAT. DR GO; GO:0090103; P:cochlea morphogenesis; IMP:DFLAT. DR GO; GO:0050890; P:cognition; IDA:DFLAT. DR GO; GO:0048702; P:embryonic neurocranium morphogenesis; IMP:DFLAT. DR GO; GO:0048839; P:inner ear development; IMP:DFLAT. DR GO; GO:0050905; P:neuromuscular process; IDA:DFLAT. DR GO; GO:0007634; P:optokinetic behavior; IDA:DFLAT. DR GO; GO:0042473; P:outer ear morphogenesis; IDA:DFLAT. DR GO; GO:0045944; P:positive regulation of transcription by RNA polymerase II; IDA:NTNU_SB. DR GO; GO:0050795; P:regulation of behavior; IDA:DFLAT. DR GO; GO:0006357; P:regulation of transcription by RNA polymerase II; IBA:GO_Central. DR GO; GO:0060876; P:semicircular canal formation; IMP:DFLAT. DR GO; GO:0007605; P:sensory perception of sound; IDA:DFLAT. DR CDD; cd00086; homeodomain; 1. DR FunFam; 1.10.10.60:FF:000113; homeobox protein Hox-B1; 1. DR Gene3D; 1.10.10.60; Homeodomain-like; 1. DR InterPro; IPR001356; HD. DR InterPro; IPR020479; HD_metazoa. DR InterPro; IPR017970; Homeobox_CS. DR InterPro; IPR009057; Homeodomain-like_sf. DR InterPro; IPR046327; HXA1/B1/D1. DR PANTHER; PTHR45946:SF3; HOMEOBOX PROTEIN HOX-A1; 1. DR PANTHER; PTHR45946; HOMEOBOX PROTEIN ROUGH-RELATED; 1. DR Pfam; PF00046; Homeodomain; 1. DR PRINTS; PR00024; HOMEOBOX. DR SMART; SM00389; HOX; 1. DR SUPFAM; SSF46689; Homeodomain-like; 1. DR PROSITE; PS00027; HOMEOBOX_1; 1. DR PROSITE; PS50071; HOMEOBOX_2; 1. PE 1: Evidence at protein level; KW Alternative splicing; Autism spectrum disorder; Developmental protein; KW DNA-binding; Homeobox; Nucleus; Proteomics identification; KW Reference proteome; Transcription; Transcription regulation. FT CHAIN 1..335 FT /note="Homeobox protein Hox-A1" FT /id="PRO_0000200030" FT DNA_BIND 229..288 FT /note="Homeobox" FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00108" FT REGION 61..80 FT /note="Disordered" FT /evidence="ECO:0000256|SAM:MobiDB-lite" FT REGION 75..203 FT /note="Interaction with OGT" FT /evidence="ECO:0000250|UniProtKB:P09022" FT REGION 281..335 FT /note="Disordered" FT /evidence="ECO:0000256|SAM:MobiDB-lite" FT MOTIF 204..209 FT /note="Antp-type hexapeptide" FT COMPBIAS 64..75 FT /note="Basic residues" FT /evidence="ECO:0000256|SAM:MobiDB-lite" FT COMPBIAS 303..312 FT /note="Basic and acidic residues" FT /evidence="ECO:0000256|SAM:MobiDB-lite" FT COMPBIAS 313..328 FT /note="Low complexity" FT /evidence="ECO:0000256|SAM:MobiDB-lite" FT VAR_SEQ 119..137 FT /note="VSGGYPQCAPAVYSGNLSS -> PPRSLSLPRIGDIFSSADF (in FT isoform 1)" FT /evidence="ECO:0000303|PubMed:7488013" FT /id="VSP_002376" FT VAR_SEQ 138..335 FT /note="Missing (in isoform 1)" FT /evidence="ECO:0000303|PubMed:7488013" FT /id="VSP_002377" FT VAR_SEQ 219..227 FT /note="KVGEYGYLG -> QSCWLVDAP (in isoform 2)" FT /evidence="ECO:0000303|PubMed:7488013" FT /id="VSP_002378" FT VAR_SEQ 228..335 FT /note="Missing (in isoform 2)" FT /evidence="ECO:0000303|PubMed:7488013" FT /id="VSP_002379" FT VARIANT 73 FT /note="R -> H (in dbSNP:rs10951154)" FT /evidence="ECO:0000269|PubMed:11091361, FT ECO:0000269|PubMed:12690205, ECO:0000269|PubMed:15489334, FT ECO:0000269|PubMed:7488013, ECO:0000269|PubMed:7622051, FT ECO:0000269|Ref.4" FT /id="VAR_010305" FT VARIANT 189 FT /note="E -> A (in dbSNP:rs17500494)" FT /id="VAR_030576" SQ SEQUENCE 335 AA; 36660 MW; 663A212239A41D26 CRC64; MDNARMNSFL EYPILSSGDS GTCSARAYPS DHRITTFQSC AVSANSCGGD DRFLVGRGVQ IGSPHHHHHH HHRHPQPATY QTSGNLGVSY SHSSCGPSYG SQNFSAPYSP YALNQEADVS GGYPQCAPAV YSGNLSSPMV QHHHHHQGYA GGAVGSPQYI HHSYGQEHQS LALATYNNSL SPLHASHQEA CRSPASETSS PAQTFDWMKV KRNPPKTGKV GEYGYLGQPN AVRTNFTTKQ LTELEKEFHF NKYLTRARRV EIAASLQLNE TQVKIWFQNR RMKQKKREKE GLLPISPATP PGNDEKAEES SEKSSSSPCV PSPGSSTSDT LTTSH //