ID HTR5B_HUMAN Reviewed; 2071 AA. AC Q9P2D3; B5MDU8; Q7Z3B2; Q9NVL7; DT 04-DEC-2007, integrated into UniProtKB/Swiss-Prot. DT 04-DEC-2007, sequence version 2. DT 07-JUN-2017, entry version 117. DE RecName: Full=HEAT repeat-containing protein 5B; GN Name=HEATR5B; Synonyms=KIAA1414; OS Homo sapiens (Human). OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; OC Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; OC Catarrhini; Hominidae; Homo. OX NCBI_TaxID=9606; RN [1] RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA]. RX PubMed=15815621; DOI=10.1038/nature03466; RA Hillier L.W., Graves T.A., Fulton R.S., Fulton L.A., Pepin K.H., RA Minx P., Wagner-McPherson C., Layman D., Wylie K., Sekhon M., RA Becker M.C., Fewell G.A., Delehaunty K.D., Miner T.L., Nash W.E., RA Kremitzki C., Oddy L., Du H., Sun H., Bradshaw-Cordum H., Ali J., RA Carter J., Cordes M., Harris A., Isak A., van Brunt A., Nguyen C., RA Du F., Courtney L., Kalicki J., Ozersky P., Abbott S., Armstrong J., RA Belter E.A., Caruso L., Cedroni M., Cotton M., Davidson T., Desai A., RA Elliott G., Erb T., Fronick C., Gaige T., Haakenson W., Haglund K., RA Holmes A., Harkins R., Kim K., Kruchowski S.S., Strong C.M., RA Grewal N., Goyea E., Hou S., Levy A., Martinka S., Mead K., RA McLellan M.D., Meyer R., Randall-Maher J., Tomlinson C., RA Dauphin-Kohlberg S., Kozlowicz-Reilly A., Shah N., RA Swearengen-Shahid S., Snider J., Strong J.T., Thompson J., Yoakum M., RA Leonard S., Pearman C., Trani L., Radionenko M., Waligorski J.E., RA Wang C., Rock S.M., Tin-Wollam A.-M., Maupin R., Latreille P., RA Wendl M.C., Yang S.-P., Pohl C., Wallis J.W., Spieth J., Bieri T.A., RA Berkowicz N., Nelson J.O., Osborne J., Ding L., Meyer R., Sabo A., RA Shotland Y., Sinha P., Wohldmann P.E., Cook L.L., Hickenbotham M.T., RA Eldred J., Williams D., Jones T.A., She X., Ciccarelli F.D., RA Izaurralde E., Taylor J., Schmutz J., Myers R.M., Cox D.R., Huang X., RA McPherson J.D., Mardis E.R., Clifton S.W., Warren W.C., RA Chinwalla A.T., Eddy S.R., Marra M.A., Ovcharenko I., Furey T.S., RA Miller W., Eichler E.E., Bork P., Suyama M., Torrents D., RA Waterston R.H., Wilson R.K.; RT "Generation and annotation of the DNA sequences of human chromosomes 2 RT and 4."; RL Nature 434:724-731(2005). RN [2] RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 262-2071 (ISOFORM 2). RC TISSUE=Amygdala; 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., RA Heubner D., Hoerlein A., Michel G., Wedler H., Koehrer K., RA Ottenwaelder B., Poustka A., 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 MRNA] OF 486-2071 (ISOFORM 1). RC TISSUE=Brain; RX PubMed=10718198; DOI=10.1093/dnares/7.1.65; RA Nagase T., Kikuno R., Ishikawa K., Hirosawa M., Ohara O.; RT "Prediction of the coding sequences of unidentified human genes. XVI. RT The complete sequences of 150 new cDNA clones from brain which code RT for large proteins in vitro."; RL DNA Res. 7:65-73(2000). RN [4] RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 1399-2071 (ISOFORM 3). RC TISSUE=Teratocarcinoma; 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., RA Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., RA Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., RA Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., RA Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., RA Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., RA Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., RA Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., RA Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., RA Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., RA 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., RA Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., RA Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., RA Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., RA Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., RA Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., RA Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., RA Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., RA Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., RA Nakai K., Yada T., Nakamura Y., Ohara O., 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 [5] RP PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-1123, AND IDENTIFICATION RP BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS]. RC TISSUE=Cervix carcinoma; RX PubMed=18691976; DOI=10.1016/j.molcel.2008.07.007; RA Daub H., Olsen J.V., Bairlein M., Gnad F., Oppermann F.S., Korner R., RA Greff Z., Keri G., Stemmann O., Mann M.; RT "Kinase-selective enrichment enables quantitative phosphoproteomics of RT the kinome across the cell cycle."; RL Mol. Cell 31:438-448(2008). RN [6] RP PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-1737, AND IDENTIFICATION RP BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS]. RC TISSUE=Cervix carcinoma; RX PubMed=20068231; DOI=10.1126/scisignal.2000475; RA Olsen J.V., Vermeulen M., Santamaria A., Kumar C., Miller M.L., RA Jensen L.J., Gnad F., Cox J., Jensen T.S., Nigg E.A., Brunak S., RA Mann M.; RT "Quantitative phosphoproteomics reveals widespread full RT phosphorylation site occupancy during mitosis."; RL Sci. Signal. 3:RA3-RA3(2010). RN [7] RP IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS]. RX PubMed=21269460; DOI=10.1186/1752-0509-5-17; RA Burkard T.R., Planyavsky M., Kaupe I., Breitwieser F.P., RA Buerckstuemmer T., Bennett K.L., Superti-Furga G., Colinge J.; RT "Initial characterization of the human central proteome."; RL BMC Syst. Biol. 5:17-17(2011). RN [8] RP PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT THR-1563; SER-1564 AND RP SER-1737, AND IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE RP ANALYSIS]. RC TISSUE=Cervix carcinoma, and Erythroleukemia; RX PubMed=23186163; DOI=10.1021/pr300630k; RA Zhou H., Di Palma S., Preisinger C., Peng M., Polat A.N., Heck A.J., RA Mohammed S.; RT "Toward a comprehensive characterization of a human cancer cell RT phosphoproteome."; RL J. Proteome Res. 12:260-271(2013). CC -!- ALTERNATIVE PRODUCTS: CC Event=Alternative splicing; Named isoforms=3; CC Name=1; CC IsoId=Q9P2D3-1; Sequence=Displayed; CC Name=2; CC IsoId=Q9P2D3-2; Sequence=VSP_029690, VSP_029691; CC Name=3; CC IsoId=Q9P2D3-3; Sequence=VSP_029692; CC -!- SIMILARITY: Belongs to the HEATR5 family. {ECO:0000305}. CC -!- SEQUENCE CAUTION: CC Sequence=BAA91733.1; Type=Erroneous initiation; Evidence={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; AC007404; -; NOT_ANNOTATED_CDS; Genomic_DNA. DR EMBL; AC007899; -; NOT_ANNOTATED_CDS; Genomic_DNA. DR EMBL; BX538008; CAD97959.1; -; mRNA. DR EMBL; AB037835; BAA92652.1; -; mRNA. DR EMBL; AK001513; BAA91733.1; ALT_INIT; mRNA. DR CCDS; CCDS33181.1; -. [Q9P2D3-1] DR RefSeq; NP_061897.1; NM_019024.2. [Q9P2D3-1] DR RefSeq; XP_011531236.1; XM_011532934.2. [Q9P2D3-1] DR RefSeq; XP_016859867.1; XM_017004378.1. [Q9P2D3-3] DR UniGene; Hs.744084; -. DR ProteinModelPortal; Q9P2D3; -. DR BioGrid; 119993; 10. DR IntAct; Q9P2D3; 4. DR STRING; 9606.ENSP00000233099; -. DR iPTMnet; Q9P2D3; -. DR PhosphoSitePlus; Q9P2D3; -. DR SwissPalm; Q9P2D3; -. DR BioMuta; HEATR5B; -. DR DMDM; 162416219; -. DR EPD; Q9P2D3; -. DR MaxQB; Q9P2D3; -. DR PaxDb; Q9P2D3; -. DR PeptideAtlas; Q9P2D3; -. DR PRIDE; Q9P2D3; -. DR Ensembl; ENST00000233099; ENSP00000233099; ENSG00000008869. [Q9P2D3-1] DR GeneID; 54497; -. DR KEGG; hsa:54497; -. DR UCSC; uc002rpp.2; human. [Q9P2D3-1] DR CTD; 54497; -. DR DisGeNET; 54497; -. DR GeneCards; HEATR5B; -. DR H-InvDB; HIX0001970; -. DR H-InvDB; HIX0161853; -. DR HGNC; HGNC:29273; HEATR5B. DR HPA; HPA042025; -. DR HPA; HPA055639; -. DR neXtProt; NX_Q9P2D3; -. DR OpenTargets; ENSG00000008869; -. DR PharmGKB; PA162390697; -. DR eggNOG; KOG1822; Eukaryota. DR eggNOG; ENOG410XP05; LUCA. DR GeneTree; ENSGT00390000006205; -. DR HOGENOM; HOG000021545; -. DR HOVERGEN; HBG056837; -. DR InParanoid; Q9P2D3; -. DR OMA; QYPCINH; -. DR OrthoDB; EOG091G00KG; -. DR PhylomeDB; Q9P2D3; -. DR TreeFam; TF300706; -. DR ChiTaRS; HEATR5B; human. DR GenomeRNAi; 54497; -. DR PRO; PR:Q9P2D3; -. DR Proteomes; UP000005640; Chromosome 2. DR Bgee; ENSG00000008869; -. DR CleanEx; HS_HEATR5B; -. DR ExpressionAtlas; Q9P2D3; baseline and differential. DR Genevisible; Q9P2D3; HS. DR GO; GO:0070062; C:extracellular exosome; IDA:UniProtKB. DR GO; GO:0016020; C:membrane; IDA:UniProtKB. DR Gene3D; 1.25.10.10; -; 3. DR InterPro; IPR011989; ARM-like. DR InterPro; IPR016024; ARM-type_fold. DR SUPFAM; SSF48371; SSF48371; 8. PE 1: Evidence at protein level; KW Alternative splicing; Complete proteome; Phosphoprotein; Polymorphism; KW Reference proteome; Repeat. FT CHAIN 1 2071 HEAT repeat-containing protein 5B. FT /FTId=PRO_0000311994. FT REPEAT 848 885 HEAT 1. FT REPEAT 1062 1099 HEAT 2. FT REPEAT 1290 1327 HEAT 3. FT MOD_RES 1123 1123 Phosphoserine. FT {ECO:0000244|PubMed:18691976}. FT MOD_RES 1563 1563 Phosphothreonine. FT {ECO:0000244|PubMed:23186163}. FT MOD_RES 1564 1564 Phosphoserine. FT {ECO:0000244|PubMed:23186163}. FT MOD_RES 1737 1737 Phosphoserine. FT {ECO:0000244|PubMed:20068231, FT ECO:0000244|PubMed:23186163}. FT VAR_SEQ 763 768 RIPAGE -> LLFLVH (in isoform 2). FT {ECO:0000303|PubMed:17974005}. FT /FTId=VSP_029690. FT VAR_SEQ 769 2071 Missing (in isoform 2). FT {ECO:0000303|PubMed:17974005}. FT /FTId=VSP_029691. FT VAR_SEQ 1684 1773 NEDDMEKEACTVLGEGGDSGGLIPGKSLVFATMELLMFILV FT RHMPHLSTKVSDSPSHIATKTRLSEESARLVAATVTILSDL FT PSLCSPAG -> R (in isoform 3). FT {ECO:0000303|PubMed:14702039}. FT /FTId=VSP_029692. FT VARIANT 1601 1601 S -> P (in dbSNP:rs2302657). FT /FTId=VAR_037392. FT CONFLICT 324 324 E -> G (in Ref. 2; CAD97959). FT {ECO:0000305}. FT CONFLICT 1640 1640 E -> G (in Ref. 4; BAA91733). FT {ECO:0000305}. SQ SEQUENCE 2071 AA; 224302 MW; 5CAAD3A49BFC975E CRC64; MELAHSLLLN EEALAQITEA KRPVFIFEWL RFLDKVLVAA NKTDVKEKQK KLVEQLTGLI SSSPGPPTRK LLAKNLAALY SIGDTFTVFQ TLDKCNDIIR NKDDTAAYLP TKLAAVACVG AFYEKMGRML GSAFPETVNN LLKSLKSAES QGRSEILMSL QKVLSGLGGA AASSHRDIYK NARSLLTDRS MAVRCAVAKC LLELQNEAVF MWTAELENIA TLCFKALENS NYGVRVAVSK LLGTVMATAL MPKQATVMRQ NVKRATFDEV LELMATGFLR GGSGFLKSGG EMLKVGGSVN REVRVGVTQA YVVFVTTLGG QWLERSFATF LSHVLDLVSH PRATQTHVEA VYSRRCVSFI LRATVGSLLG EKAQIAAAKE ICQAIGKQMK AVEAVVNDTS GENKSGAADI AASQHVMVCA LQELGSLVQS LNATASPLIQ EASIGLLEIV TSVLLHPSMA ARLAAAWCLR CVAVALPFQL TPFLDRCAER LNNLKTSPEA VSGYSFAMAA LLGGVHQCPL GIPHAKGKMV VSIAEDLLRT AAQNSRLSLQ RTQAGWLLLG ALMTLGPSVV RYHLPKMLLL WRNVFPRSLK ELEAEKARGD SFTWQVTLEG RAGALCAMRS FVAHCPELLT EDVIRKLMTP IECAMTMMSH IPSVMKAHGA HLKASAAMVR LRLYDILALL PPKTYEGSFN ALLRELVAEF TLTDNSANTT TSLLRSLCHY DDSVLLGSWL QETDHKSIED QLQPNSASGS GALEHDPSSI YLRIPAGEAV PGPLPLGVSV IDASVALFGV VFPHVSYKHR LQMLDHFAEC VKQAKGVRQQ AVQLNIFTAV LSALKGLAEN KSTLGPEEVR KSALTLVMGP LDNPNPILRC AAGEALGRMA QVVGEATFIA RMAQYSFDKL KSARDVVSRT GHSLALGCLH RYVGGIGSGQ HLKTSVSILL ALAQDGTSPE VQTWSLHSLA LIVDSSGPMY RGYVEPTLSL VLTLLLTVPP SHTEVHQCLG RCLGAIITTV GPELQGNGAT TSTIRSSCLV GCAITQDHSD SLVQAAAISC LQQLHMFAPR HVNLSSLVPS LCVHLCSSHL LLRRAAVACL RQLAQREAAE VCEYAMSLAK NTGDKESSSA NVSPFAPGVS SRTDIHCRHQ GVNITETGLE GLLFGMLDRE TDRKLCSDIH DTLGHMLSSL AVEKLSHWLM LCKDVLAASS DMSTATLLSS GKDEEAEKKD EMDDDTMFTT LGEEDKSKPF VAPRWATRVF AADCLCRIIN LCENADQAHF DLALARSAKL RNPTNDLLVL HLSDLIRMAF MAATDHSNQL RMAGLQALED IIKKFASVPE PEFPGHVILE QYQANVGAAL RPAFSQDTPS DIIAKACQVC STWIGSGVVS DLNDLRRVHN LLVSSLDKVQ AGKGSSSQLY RESATTMEKL AVLKAWAEVY VVAMNIKKEA ESKPKRAIKN TDDDDDDCGT IDELPPDSLI TLVQPELPTL SRLWLAALKD YALLTLPAEF SSQLPPDGGA FYTPETIDTA RLHYRNSWAP ILHAVALWLN STGFTCSEST EAAAISGLQK RSTSVNLNQA SGAVGSAKSL PEINKDRMHL ILGVSIQFLC SPRPEEPIEH VTACLQALHT LLDSPYARVH IAEDQLIGVE LLSVLHRLLL TWNPSSVQLL VTGVVQQIVR AAQDYLQEKR NTLNEDDMEK EACTVLGEGG DSGGLIPGKS LVFATMELLM FILVRHMPHL STKVSDSPSH IATKTRLSEE SARLVAATVT ILSDLPSLCS PAGCMTILPT ILFLIARILK DTAIKSADNQ VPPPVSAALQ GIKSIVTLSM AKTEAGVQKQ WTALIRSTLA CILEYSQPED SVPTPDEVSM LTAIALFLWS ASNEIIGVQS LQNGCMNRFK NALNSCDPWV QAKCYQLLLS VFQHSNRALS TPYIHSLAPI VVEKLKAVER NRPASNIELL AVQEGIKVLE TLVALGEEQN RVQLLALLVP TLISYLLDEN SFASASSASK DLHEFALQNL MHIGPLYPHA FKTVMGAAPE LKVRLETAVR ASQASKAKAA ARQPAPAIHS APTIKLKTSF F //