VW5B1_HUMAN
ID VW5B1_HUMAN Reviewed; 1220 AA.
AC Q5TIE3; A4IF35; A4IF36; Q3ZCM4; Q6ZUB4; Q96M71;
DT 18-MAR-2008, integrated into UniProtKB/Swiss-Prot.
DT 20-FEB-2007, sequence version 2.
DT 03-AUG-2022, entry version 115.
DE RecName: Full=von Willebrand factor A domain-containing protein 5B1;
DE Flags: Precursor;
GN Name=VWA5B1;
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 3), AND NUCLEOTIDE SEQUENCE
RP [LARGE SCALE MRNA] OF 575-1016 (ISOFORM 4).
RC TISSUE=Testis;
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 GENOMIC DNA].
RX PubMed=16710414; DOI=10.1038/nature04727;
RA Gregory S.G., Barlow K.F., McLay K.E., Kaul R., Swarbreck D., Dunham A.,
RA Scott C.E., Howe K.L., Woodfine K., Spencer C.C.A., Jones M.C., Gillson C.,
RA Searle S., Zhou Y., Kokocinski F., McDonald L., Evans R., Phillips K.,
RA Atkinson A., Cooper R., Jones C., Hall R.E., Andrews T.D., Lloyd C.,
RA Ainscough R., Almeida J.P., Ambrose K.D., Anderson F., Andrew R.W.,
RA Ashwell R.I.S., Aubin K., Babbage A.K., Bagguley C.L., Bailey J.,
RA Beasley H., Bethel G., Bird C.P., Bray-Allen S., Brown J.Y., Brown A.J.,
RA Buckley D., Burton J., Bye J., Carder C., Chapman J.C., Clark S.Y.,
RA Clarke G., Clee C., Cobley V., Collier R.E., Corby N., Coville G.J.,
RA Davies J., Deadman R., Dunn M., Earthrowl M., Ellington A.G., Errington H.,
RA Frankish A., Frankland J., French L., Garner P., Garnett J., Gay L.,
RA Ghori M.R.J., Gibson R., Gilby L.M., Gillett W., Glithero R.J.,
RA Grafham D.V., Griffiths C., Griffiths-Jones S., Grocock R., Hammond S.,
RA Harrison E.S.I., Hart E., Haugen E., Heath P.D., Holmes S., Holt K.,
RA Howden P.J., Hunt A.R., Hunt S.E., Hunter G., Isherwood J., James R.,
RA Johnson C., Johnson D., Joy A., Kay M., Kershaw J.K., Kibukawa M.,
RA Kimberley A.M., King A., Knights A.J., Lad H., Laird G., Lawlor S.,
RA Leongamornlert D.A., Lloyd D.M., Loveland J., Lovell J., Lush M.J.,
RA Lyne R., Martin S., Mashreghi-Mohammadi M., Matthews L., Matthews N.S.W.,
RA McLaren S., Milne S., Mistry S., Moore M.J.F., Nickerson T., O'Dell C.N.,
RA Oliver K., Palmeiri A., Palmer S.A., Parker A., Patel D., Pearce A.V.,
RA Peck A.I., Pelan S., Phelps K., Phillimore B.J., Plumb R., Rajan J.,
RA Raymond C., Rouse G., Saenphimmachak C., Sehra H.K., Sheridan E.,
RA Shownkeen R., Sims S., Skuce C.D., Smith M., Steward C., Subramanian S.,
RA Sycamore N., Tracey A., Tromans A., Van Helmond Z., Wall M., Wallis J.M.,
RA White S., Whitehead S.L., Wilkinson J.E., Willey D.L., Williams H.,
RA Wilming L., Wray P.W., Wu Z., Coulson A., Vaudin M., Sulston J.E.,
RA Durbin R.M., Hubbard T., Wooster R., Dunham I., Carter N.P., McVean G.,
RA Ross M.T., Harrow J., Olson M.V., Beck S., Rogers J., Bentley D.R.;
RT "The DNA sequence and biological annotation of human chromosome 1.";
RL Nature 441:315-321(2006).
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 576-1208 (ISOFORM 2), AND
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 576-1207 (ISOFORM 5).
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 [4]
RP PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT TYR-881, AND IDENTIFICATION BY
RP MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
RC TISSUE=Cervix carcinoma;
RX PubMed=18669648; DOI=10.1073/pnas.0805139105;
RA Dephoure N., Zhou C., Villen J., Beausoleil S.A., Bakalarski C.E.,
RA Elledge S.J., Gygi S.P.;
RT "A quantitative atlas of mitotic phosphorylation.";
RL Proc. Natl. Acad. Sci. U.S.A. 105:10762-10767(2008).
CC -!- SUBCELLULAR LOCATION: Secreted {ECO:0000305}.
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=5;
CC Name=1;
CC IsoId=Q5TIE3-1; Sequence=Displayed;
CC Name=2;
CC IsoId=Q5TIE3-2; Sequence=VSP_040399, VSP_040400;
CC Name=3;
CC IsoId=Q5TIE3-3; Sequence=VSP_032580, VSP_032581, VSP_032582;
CC Name=4;
CC IsoId=Q5TIE3-4; Sequence=VSP_040399, VSP_040401, VSP_040403;
CC Name=5;
CC IsoId=Q5TIE3-5; Sequence=VSP_040399, VSP_040402;
CC -!- SEQUENCE CAUTION:
CC Sequence=BAB71439.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305};
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DR EMBL; AK057346; BAB71439.1; ALT_INIT; mRNA.
DR EMBL; AK125833; BAC86312.1; -; mRNA.
DR EMBL; AL020998; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; BC101378; AAI01379.1; -; mRNA.
DR EMBL; BC101379; AAI01380.1; -; mRNA.
DR EMBL; BC101380; AAI01381.1; -; mRNA.
DR EMBL; BC101381; AAI01382.1; -; mRNA.
DR RefSeq; NP_001034589.2; NM_001039500.2. [Q5TIE3-2]
DR RefSeq; XP_011538985.1; XM_011540683.2. [Q5TIE3-2]
DR RefSeq; XP_011538986.1; XM_011540684.2. [Q5TIE3-2]
DR RefSeq; XP_011538987.1; XM_011540685.2. [Q5TIE3-2]
DR RefSeq; XP_011538990.1; XM_011540688.2. [Q5TIE3-5]
DR RefSeq; XP_011538995.1; XM_011540693.1. [Q5TIE3-4]
DR AlphaFoldDB; Q5TIE3; -.
DR BioGRID; 126081; 1.
DR IntAct; Q5TIE3; 1.
DR STRING; 9606.ENSP00000364220; -.
DR GlyGen; Q5TIE3; 3 sites.
DR iPTMnet; Q5TIE3; -.
DR PhosphoSitePlus; Q5TIE3; -.
DR BioMuta; VWA5B1; -.
DR DMDM; 172045919; -.
DR jPOST; Q5TIE3; -.
DR MassIVE; Q5TIE3; -.
DR PaxDb; Q5TIE3; -.
DR PeptideAtlas; Q5TIE3; -.
DR PRIDE; Q5TIE3; -.
DR ProteomicsDB; 65193; -. [Q5TIE3-1]
DR ProteomicsDB; 65194; -. [Q5TIE3-2]
DR ProteomicsDB; 65195; -. [Q5TIE3-3]
DR ProteomicsDB; 65196; -. [Q5TIE3-4]
DR ProteomicsDB; 65197; -. [Q5TIE3-5]
DR Antibodypedia; 29787; 14 antibodies from 8 providers.
DR DNASU; 127731; -.
DR Ensembl; ENST00000289815.13; ENSP00000289815.9; ENSG00000158816.16. [Q5TIE3-2]
DR Ensembl; ENST00000375079.6; ENSP00000364220.1; ENSG00000158816.16. [Q5TIE3-1]
DR GeneID; 127731; -.
DR KEGG; hsa:127731; -.
DR MANE-Select; ENST00000289815.13; ENSP00000289815.9; NM_001039500.3; NP_001034589.2. [Q5TIE3-2]
DR UCSC; uc009vps.2; human. [Q5TIE3-1]
DR CTD; 127731; -.
DR DisGeNET; 127731; -.
DR GeneCards; VWA5B1; -.
DR HGNC; HGNC:26538; VWA5B1.
DR HPA; ENSG00000158816; Tissue enhanced (brain, choroid plexus).
DR neXtProt; NX_Q5TIE3; -.
DR OpenTargets; ENSG00000158816; -.
DR VEuPathDB; HostDB:ENSG00000158816; -.
DR eggNOG; ENOG502QVJP; Eukaryota.
DR GeneTree; ENSGT00940000158938; -.
DR HOGENOM; CLU_005270_0_0_1; -.
DR InParanoid; Q5TIE3; -.
DR OMA; PPMETVH; -.
DR OrthoDB; 955432at2759; -.
DR PhylomeDB; Q5TIE3; -.
DR TreeFam; TF329720; -.
DR PathwayCommons; Q5TIE3; -.
DR SignaLink; Q5TIE3; -.
DR BioGRID-ORCS; 127731; 3 hits in 246 CRISPR screens.
DR ChiTaRS; VWA5B1; human.
DR GenomeRNAi; 127731; -.
DR Pharos; Q5TIE3; Tdark.
DR PRO; PR:Q5TIE3; -.
DR Proteomes; UP000005640; Chromosome 1.
DR RNAct; Q5TIE3; protein.
DR Bgee; ENSG00000158816; Expressed in pituitary gland and 71 other tissues.
DR ExpressionAtlas; Q5TIE3; baseline and differential.
DR Genevisible; Q5TIE3; HS.
DR GO; GO:0005576; C:extracellular region; IEA:UniProtKB-SubCell.
DR Gene3D; 3.40.50.410; -; 1.
DR InterPro; IPR013694; VIT.
DR InterPro; IPR002035; VWF_A.
DR InterPro; IPR036465; vWFA_dom_sf.
DR Pfam; PF13757; VIT_2; 1.
DR Pfam; PF13768; VWA_3; 1.
DR SMART; SM00327; VWA; 1.
DR SUPFAM; SSF53300; SSF53300; 1.
DR PROSITE; PS51468; VIT; 1.
DR PROSITE; PS50234; VWFA; 1.
PE 1: Evidence at protein level;
KW Alternative splicing; Glycoprotein; Phosphoprotein; Reference proteome;
KW Secreted; Signal.
FT SIGNAL 1..18
FT /evidence="ECO:0000255"
FT CHAIN 19..1220
FT /note="von Willebrand factor A domain-containing protein
FT 5B1"
FT /id="PRO_0000326173"
FT DOMAIN 19..149
FT /note="VIT"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00801"
FT DOMAIN 361..529
FT /note="VWFA"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00219"
FT REGION 715..807
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 937..962
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 976..995
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 1093..1115
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 745..761
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 777..791
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT MOD_RES 881
FT /note="Phosphotyrosine"
FT /evidence="ECO:0007744|PubMed:18669648"
FT CARBOHYD 140
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000255"
FT CARBOHYD 650
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000255"
FT CARBOHYD 1017
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000255"
FT VAR_SEQ 1..283
FT /note="Missing (in isoform 3)"
FT /evidence="ECO:0000303|PubMed:14702039"
FT /id="VSP_032580"
FT VAR_SEQ 712..730
FT /note="PLLNSGQDLNQGPKLRGPG -> AFICLTSEDTFQIRTPTGQ (in
FT isoform 3)"
FT /evidence="ECO:0000303|PubMed:14702039"
FT /id="VSP_032581"
FT VAR_SEQ 731..1220
FT /note="Missing (in isoform 3)"
FT /evidence="ECO:0000303|PubMed:14702039"
FT /id="VSP_032582"
FT VAR_SEQ 921
FT /note="S -> SG (in isoform 2, isoform 4 and isoform 5)"
FT /evidence="ECO:0000303|PubMed:14702039,
FT ECO:0000303|PubMed:15489334"
FT /id="VSP_040399"
FT VAR_SEQ 959..965
FT /note="GKFQALN -> D (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:15489334"
FT /id="VSP_040400"
FT VAR_SEQ 960..1016
FT /note="KFQALNMEASPTALFSEARSPGREKHGASEGPQRSLATNTLSSMKASENLFG
FT SWLNL -> PRKCSQTLMGFKTKTETEHSVRGWKPRGALQNQSVLSTSWSHWPPKPRRT
FT SSTPEPS (in isoform 4)"
FT /evidence="ECO:0000303|PubMed:14702039"
FT /id="VSP_040401"
FT VAR_SEQ 960..990
FT /note="Missing (in isoform 5)"
FT /evidence="ECO:0000303|PubMed:15489334"
FT /id="VSP_040402"
FT VAR_SEQ 1017..1220
FT /note="Missing (in isoform 4)"
FT /evidence="ECO:0000303|PubMed:14702039"
FT /id="VSP_040403"
FT VARIANT 319
FT /note="A -> S (in dbSNP:rs2872972)"
FT /id="VAR_039994"
FT VARIANT 469
FT /note="N -> S (in dbSNP:rs2072752)"
FT /id="VAR_039995"
FT VARIANT 506
FT /note="S -> N (in dbSNP:rs12072406)"
FT /id="VAR_039996"
FT VARIANT 634
FT /note="K -> R (in dbSNP:rs10916769)"
FT /id="VAR_039997"
FT CONFLICT 302
FT /note="H -> R (in Ref. 1; BAC86312)"
FT /evidence="ECO:0000305"
FT CONFLICT 880
FT /note="R -> H (in Ref. 3; AAI01381)"
FT /evidence="ECO:0000305"
FT CONFLICT 1208
FT /note="L -> R (in Ref. 3; AAI01381)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 1220 AA; 133802 MW; C4C0FC22CFE04B0F CRC64;
MPGLLNWITG AALPLTASDV TSCVSGYALG LTASLTYGNL EAQPFQGLFV YPLDECTTVI
GFEAVIADRV VTVQIKDKAK LESGHFDASH VRSPTVTGNI LQDGVSIAPH SCTPGKVTLD
EDLERILFVA NLGTIAPMEN VTIFISTSSE LPTLPSGAVR VLLPAVCAPT VPQFCTKSTG
TSNQQAQGKD RHCFGAWAPG SWNKLCLATL LNTEVSNPME YEFNFQLEIR GPCLLAGVES
PTHEIRADAA PSARSAKSII ITLANKHTFD RPVEILIHPS EPHMPHVLIE KGDMTLGEFD
QHLKGRTDFI KGMKKKSRAE RKTEIIRKRL HKDIPHHSVI MLNFCPDLQS VQPCLRKAHG
EFIFLIDRSS SMSGISMHRV KDAMLVALKS LMPACLFNII GFGSTFKSLF PSSQTYSEDS
LAMACDDIQR MKADMGGTNI LSPLKWVIRQ PVHRGHPRLL FVITDGAVNN TGKVLELVRN
HAFSTRCYSF GIGPNVCHRL VKGLASVSEG SAELLMEGER LQPKMVKSLK KAMAPVLSDV
TVEWIFPETT EVLVSPVSAS SLFPGERLVG YGIVCDASLH ISNPRSDKRR RYSMLHSQES
GSSVFYHSQD DGPGLEGGDC AKNSGAPFIL GQAKNARLAS GDSTTKHDLN LSQRRRAYST
NQITNHKPLP RATMASDPMP AAKRYPLRKA RLQDLTNQTS LDVQRWQIDL QPLLNSGQDL
NQGPKLRGPG ARRPSLLPQG CQPFLPWGQE TQAWSPVRER TSDSRSPGDL EPSHHPSAFE
TETSSDWDPP AESQERASPS RPATPAPVLG KALVKGLHDS QRLQWEVSFE LGTPGPERGG
AQDADLWSET FHHLAARAII RDFEQLAERE GEIEQGSNRR YQVSALHTSK ACNIISKYTA
FVPVDVSKSR YLPTVVEYPN SAALRMLGSR ALAQQWRGTS SGFGRPQTML GEDSAPGNGK
FQALNMEASP TALFSEARSP GREKHGASEG PQRSLATNTL SSMKASENLF GSWLNLNKSR
LLTRAAKGFL SKPLIKAVES TSGNQSFDYI PLVSLQLASG AFLLNEAFCE ATHIPMEKLK
WTSPFTCHRV SLTTRPSESK TPSPQLCTSS PPRHPSCDSF SLEPLAKGKL GLEPRAVVEH
TGKLWATVVG LAWLEHSSAS YFTEWELVAA KANSWLEQQE VPEGRTQGTL KAAARQLFVL
LRHWDENLEF NMLCYNPNYV
