ID PHTF2_HUMAN Reviewed; 785 AA. AC Q8N3S3; A0JP04; A0JP05; A4D1C2; B3KQZ2; E9PEE3; G5E9H7; Q6NW35; Q8TBW4; AC Q9H099; DT 05-FEB-2008, integrated into UniProtKB/Swiss-Prot. DT 05-FEB-2008, sequence version 2. DT 27-NOV-2024, entry version 148. DE RecName: Full=Protein PHTF2 {ECO:0000305}; GN Name=PHTF2; 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 [LARGE SCALE MRNA] (ISOFORM 7). 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 [2] RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1 AND 4). RC TISSUE=Skeletal muscle, and Testis; RX PubMed=17974005; DOI=10.1186/1471-2164-8-399; RA Bechtel S., Rosenfelder H., Duda A., Schmidt C.P., Ernst U., RA Wellenreuther R., Mehrle A., Schuster C., Bahr A., Bloecker H., Heubner D., RA Hoerlein A., Michel G., Wedler H., Koehrer K., Ottenwaelder B., Poustka A., RA Wiemann S., Schupp I.; RT "The full-ORF clone resource of the German cDNA consortium."; RL BMC Genomics 8:399-399(2007). RN [3] 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 [4] RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA]. 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 [5] RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA]. 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 (SEP-2005) to the EMBL/GenBank/DDBJ databases. RN [6] RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 2; 3; 5 AND 6). RC TISSUE=Brain, and Skeletal muscle; 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). CC -!- SUBCELLULAR LOCATION: Membrane {ECO:0000255}; Multi-pass membrane CC protein {ECO:0000255}. CC -!- ALTERNATIVE PRODUCTS: CC Event=Alternative splicing; Named isoforms=7; CC Name=1; CC IsoId=Q8N3S3-1; Sequence=Displayed; CC Name=2; CC IsoId=Q8N3S3-2; Sequence=VSP_031192; CC Name=3; CC IsoId=Q8N3S3-3; Sequence=VSP_031192, VSP_031193; CC Name=4; CC IsoId=Q8N3S3-4; Sequence=VSP_031192, VSP_031193, VSP_031194; CC Name=5; CC IsoId=Q8N3S3-5; Sequence=VSP_031192, VSP_046275, VSP_046276; CC Name=6; CC IsoId=Q8N3S3-6; Sequence=VSP_031192, VSP_031193, VSP_046275, CC VSP_046276; CC Name=7; CC IsoId=Q8N3S3-7; Sequence=VSP_031192, VSP_031193, VSP_057299, CC VSP_057300; 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; AK090643; BAG52204.1; -; mRNA. DR EMBL; AL136883; CAB66817.1; -; mRNA. DR EMBL; AL831969; CAD38610.1; -; mRNA. DR EMBL; AC004955; -; NOT_ANNOTATED_CDS; Genomic_DNA. DR EMBL; AC004990; -; NOT_ANNOTATED_CDS; Genomic_DNA. DR EMBL; AC073520; -; NOT_ANNOTATED_CDS; Genomic_DNA. DR EMBL; CH236949; EAL24195.1; -; Genomic_DNA. DR EMBL; CH471091; EAW77027.1; -; Genomic_DNA. DR EMBL; CH471091; EAW77028.1; -; Genomic_DNA. DR EMBL; CH471091; EAW77031.1; -; Genomic_DNA. DR EMBL; BC022419; AAH22419.1; -; mRNA. DR EMBL; BC067742; AAH67742.1; -; mRNA. DR EMBL; BC127093; AAI27094.1; -; mRNA. DR EMBL; BC127094; AAI27095.1; -; mRNA. DR CCDS; CCDS47621.1; -. [Q8N3S3-2] DR CCDS; CCDS47622.1; -. [Q8N3S3-3] DR CCDS; CCDS47623.1; -. [Q8N3S3-5] DR CCDS; CCDS47624.1; -. [Q8N3S3-6] DR CCDS; CCDS94132.1; -. [Q8N3S3-1] DR CCDS; CCDS94133.1; -. [Q8N3S3-4] DR CCDS; CCDS94134.1; -. [Q8N3S3-7] DR RefSeq; NP_001120829.1; NM_001127357.1. [Q8N3S3-2] DR RefSeq; NP_001120830.1; NM_001127358.1. [Q8N3S3-3] DR RefSeq; NP_001120831.1; NM_001127359.1. [Q8N3S3-5] DR RefSeq; NP_001120832.1; NM_001127360.1. [Q8N3S3-6] DR RefSeq; NP_065165.3; NM_020432.4. [Q8N3S3-3] DR RefSeq; XP_005250565.1; XM_005250508.4. DR RefSeq; XP_005250566.1; XM_005250509.4. [Q8N3S3-2] DR AlphaFoldDB; Q8N3S3; -. DR BioGRID; 121413; 16. DR IntAct; Q8N3S3; 14. DR STRING; 9606.ENSP00000403042; -. DR GlyCosmos; Q8N3S3; 3 sites, No reported glycans. DR GlyGen; Q8N3S3; 3 sites. DR iPTMnet; Q8N3S3; -. DR PhosphoSitePlus; Q8N3S3; -. DR BioMuta; PHTF2; -. DR DMDM; 166987998; -. DR jPOST; Q8N3S3; -. DR MassIVE; Q8N3S3; -. DR PaxDb; 9606-ENSP00000403042; -. DR PeptideAtlas; Q8N3S3; -. DR ProteomicsDB; 19870; -. DR ProteomicsDB; 33943; -. DR ProteomicsDB; 3570; -. DR ProteomicsDB; 71829; -. [Q8N3S3-1] DR ProteomicsDB; 71830; -. [Q8N3S3-2] DR ProteomicsDB; 71831; -. [Q8N3S3-3] DR ProteomicsDB; 71832; -. [Q8N3S3-4] DR Antibodypedia; 53023; 77 antibodies from 15 providers. DR DNASU; 57157; -. DR Ensembl; ENST00000248550.7; ENSP00000248550.7; ENSG00000006576.17. [Q8N3S3-1] DR Ensembl; ENST00000275575.11; ENSP00000275575.7; ENSG00000006576.17. [Q8N3S3-4] DR Ensembl; ENST00000307305.12; ENSP00000307699.8; ENSG00000006576.17. [Q8N3S3-3] DR Ensembl; ENST00000415251.6; ENSP00000408035.2; ENSG00000006576.17. [Q8N3S3-6] DR Ensembl; ENST00000416283.6; ENSP00000400958.3; ENSG00000006576.17. [Q8N3S3-1] DR Ensembl; ENST00000422959.8; ENSP00000403042.2; ENSG00000006576.17. [Q8N3S3-2] DR Ensembl; ENST00000424760.5; ENSP00000403620.1; ENSG00000006576.17. [Q8N3S3-7] DR Ensembl; ENST00000450574.5; ENSP00000387355.1; ENSG00000006576.17. [Q8N3S3-5] DR GeneID; 57157; -. DR KEGG; hsa:57157; -. DR MANE-Select; ENST00000422959.8; ENSP00000403042.2; NM_001395272.1; NP_001382201.1. [Q8N3S3-2] DR UCSC; uc003ugo.5; human. [Q8N3S3-1] DR AGR; HGNC:13411; -. DR CTD; 57157; -. DR DisGeNET; 57157; -. DR GeneCards; PHTF2; -. DR HGNC; HGNC:13411; PHTF2. DR HPA; ENSG00000006576; Tissue enhanced (skeletal muscle, tongue). DR neXtProt; NX_Q8N3S3; -. DR OpenTargets; ENSG00000006576; -. DR PharmGKB; PA33279; -. DR VEuPathDB; HostDB:ENSG00000006576; -. DR eggNOG; ENOG502QQGQ; Eukaryota. DR GeneTree; ENSGT00390000011648; -. DR HOGENOM; CLU_013937_0_0_1; -. DR InParanoid; Q8N3S3; -. DR OMA; IPTFCRL; -. DR OrthoDB; 51738at2759; -. DR PhylomeDB; Q8N3S3; -. DR TreeFam; TF323570; -. DR PathwayCommons; Q8N3S3; -. DR SignaLink; Q8N3S3; -. DR BioGRID-ORCS; 57157; 8 hits in 1166 CRISPR screens. DR ChiTaRS; PHTF2; human. DR GeneWiki; PHTF2; -. DR GenomeRNAi; 57157; -. DR Pharos; Q8N3S3; Tdark. DR PRO; PR:Q8N3S3; -. DR Proteomes; UP000005640; Chromosome 7. DR RNAct; Q8N3S3; protein. DR Bgee; ENSG00000006576; Expressed in tibia and 206 other cell types or tissues. DR GO; GO:0005783; C:endoplasmic reticulum; IDA:LIFEdb. DR GO; GO:0016020; C:membrane; IEA:UniProtKB-SubCell. DR InterPro; IPR039775; PHTF1/2. DR InterPro; IPR021980; PHTF1/2_N. DR PANTHER; PTHR12680:SF2; PROTEIN PHTF2; 1. DR PANTHER; PTHR12680; PUTATIVE HOMEODOMAIN TRANSCRIPTION FACTOR PHTF; 1. DR Pfam; PF12129; PHTF1-2_N; 1. PE 1: Evidence at protein level; KW Alternative splicing; Glycoprotein; Membrane; Proteomics identification; KW Reference proteome; Transmembrane; Transmembrane helix. FT CHAIN 1..785 FT /note="Protein PHTF2" FT /id="PRO_0000318509" FT TRANSMEM 136..156 FT /note="Helical" FT /evidence="ECO:0000255" FT TRANSMEM 164..184 FT /note="Helical" FT /evidence="ECO:0000255" FT TRANSMEM 497..517 FT /note="Helical" FT /evidence="ECO:0000255" FT TRANSMEM 553..573 FT /note="Helical" FT /evidence="ECO:0000255" FT TRANSMEM 634..654 FT /note="Helical" FT /evidence="ECO:0000255" FT TRANSMEM 668..688 FT /note="Helical" FT /evidence="ECO:0000255" FT TRANSMEM 760..780 FT /note="Helical" FT /evidence="ECO:0000255" FT DOMAIN 46..191 FT /note="PHTF" FT /evidence="ECO:0000255" FT REGION 190..239 FT /note="Disordered" FT /evidence="ECO:0000256|SAM:MobiDB-lite" FT REGION 304..401 FT /note="Disordered" FT /evidence="ECO:0000256|SAM:MobiDB-lite" FT COMPBIAS 223..239 FT /note="Polar residues" FT /evidence="ECO:0000256|SAM:MobiDB-lite" FT COMPBIAS 305..338 FT /note="Polar residues" FT /evidence="ECO:0000256|SAM:MobiDB-lite" FT COMPBIAS 342..360 FT /note="Basic and acidic residues" FT /evidence="ECO:0000256|SAM:MobiDB-lite" FT COMPBIAS 376..391 FT /note="Polar residues" FT /evidence="ECO:0000256|SAM:MobiDB-lite" FT CARBOHYD 329 FT /note="N-linked (GlcNAc...) asparagine" FT /evidence="ECO:0000255" FT CARBOHYD 697 FT /note="N-linked (GlcNAc...) asparagine" FT /evidence="ECO:0000255" FT CARBOHYD 756 FT /note="N-linked (GlcNAc...) asparagine" FT /evidence="ECO:0000255" FT VAR_SEQ 16..49 FT /note="Missing (in isoform 2, isoform 3, isoform 4, isoform FT 5, isoform 6 and isoform 7)" FT /evidence="ECO:0000303|PubMed:14702039, FT ECO:0000303|PubMed:15489334, ECO:0000303|PubMed:17974005" FT /id="VSP_031192" FT VAR_SEQ 69..72 FT /note="Missing (in isoform 3, isoform 4, isoform 6 and FT isoform 7)" FT /evidence="ECO:0000303|PubMed:14702039, FT ECO:0000303|PubMed:15489334, ECO:0000303|PubMed:17974005" FT /id="VSP_031193" FT VAR_SEQ 374..390 FT /note="DAPKSGTSCSSRCSSSR -> VYTLSLSVYIRIYFICY (in isoform 5 FT and isoform 6)" FT /evidence="ECO:0000303|PubMed:15489334" FT /id="VSP_046275" FT VAR_SEQ 391..785 FT /note="Missing (in isoform 5 and isoform 6)" FT /evidence="ECO:0000303|PubMed:15489334" FT /id="VSP_046276" FT VAR_SEQ 581..584 FT /note="RLLF -> VGIM (in isoform 7)" FT /evidence="ECO:0000303|PubMed:14702039" FT /id="VSP_057299" FT VAR_SEQ 585..785 FT /note="Missing (in isoform 7)" FT /evidence="ECO:0000303|PubMed:14702039" FT /id="VSP_057300" FT VAR_SEQ 654..705 FT /note="Missing (in isoform 4)" FT /evidence="ECO:0000303|PubMed:17974005" FT /id="VSP_031194" FT CONFLICT 3 FT /note="S -> P (in Ref. 2; CAD38610)" FT /evidence="ECO:0000305" FT CONFLICT Q8N3S3-5:350 FT /note="R -> H (in Ref. 6; AAH22419)" FT /evidence="ECO:0000305" FT CONFLICT Q8N3S3-6:346 FT /note="R -> H (in Ref. 6; AAH67742)" FT /evidence="ECO:0000305" SQ SEQUENCE 785 AA; 88757 MW; F4260D28E7261126 CRC64; MASKVTDAIV WYQKKEFLSV ATTAPGPQQV LPGYCQCSLK DQGLFIQCLI GAYDQQIWEK SVEQREIKFI KLGLRNKPKK TAHVKPDLID VDLVRGSAFA KAKPESPWTS LTRKGIVRVV FFPFFFRWWL QVTSKVIFFW LLVLYLLQVA AIVLFCSTSS PHSIPLTEVI GPIWLMLLLG TVHCQIVSTR TPKPPLSTGG KRRRKLRKAA HLEVHREGDG SSTTDNTQEG AVQNHGTSTS HSVGTVFRDL WHAAFFLSGS KKAKNSIDKS TETDNGYVSL DGKKTVKSGE DGIQNHEPQC ETIRPEETAW NTGTLRNGPS KDTQRTITNV SDEVSSEEGP ETGYSLRRHV DRTSEGVLRN RKSHHYKKHY PNEDAPKSGT SCSSRCSSSR QDSESARPES ETEDVLWEDL LHCAECHSSC TSETDVENHQ INPCVKKEYR DDPFHQSHLP WLHSSHPGLE KISAIVWEGN DCKKADMSVL EISGMIMNRV NSHIPGIGYQ IFGNAVSLIL GLTPFVFRLS QATDLEQLTA HSASELYVIA FGSNEDVIVL SMVIISFVVR VSLVWIFFFL LCVAERTYKQ RLLFAKLFGH LTSARRARKS EVPHFRLKKV QNIKMWLSLR SYLKRRGPQR SVDVIVSSAF LLTISVVFIC CAQLLHVHEI FLDCHYNWEL VIWCISLTLF LLRFVTLGSE TSKKYSNTSI LLTEQINLYL KMEKKPNKKE ELTLVNNVLK LATKLLKELD SPFRLYGLTM NPLLYNITQV VILSAVSGVI SDLLGFNLKL WKIKS //