VW5B2_HUMAN
ID VW5B2_HUMAN Reviewed; 1242 AA.
AC Q8N398; B9EGN7;
DT 10-JUN-2008, integrated into UniProtKB/Swiss-Prot.
DT 12-SEP-2018, sequence version 3.
DT 03-AUG-2022, entry version 118.
DE RecName: Full=von Willebrand factor A domain-containing protein 5B2;
GN Name=VWA5B2;
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 GENOMIC DNA].
RX PubMed=16641997; DOI=10.1038/nature04728;
RA Muzny D.M., Scherer S.E., Kaul R., Wang J., Yu J., Sudbrak R., Buhay C.J.,
RA Chen R., Cree A., Ding Y., Dugan-Rocha S., Gill R., Gunaratne P.,
RA Harris R.A., Hawes A.C., Hernandez J., Hodgson A.V., Hume J., Jackson A.,
RA Khan Z.M., Kovar-Smith C., Lewis L.R., Lozado R.J., Metzker M.L.,
RA Milosavljevic A., Miner G.R., Morgan M.B., Nazareth L.V., Scott G.,
RA Sodergren E., Song X.-Z., Steffen D., Wei S., Wheeler D.A., Wright M.W.,
RA Worley K.C., Yuan Y., Zhang Z., Adams C.Q., Ansari-Lari M.A., Ayele M.,
RA Brown M.J., Chen G., Chen Z., Clendenning J., Clerc-Blankenburg K.P.,
RA Chen R., Chen Z., Davis C., Delgado O., Dinh H.H., Dong W., Draper H.,
RA Ernst S., Fu G., Gonzalez-Garay M.L., Garcia D.K., Gillett W., Gu J.,
RA Hao B., Haugen E., Havlak P., He X., Hennig S., Hu S., Huang W.,
RA Jackson L.R., Jacob L.S., Kelly S.H., Kube M., Levy R., Li Z., Liu B.,
RA Liu J., Liu W., Lu J., Maheshwari M., Nguyen B.-V., Okwuonu G.O.,
RA Palmeiri A., Pasternak S., Perez L.M., Phelps K.A., Plopper F.J., Qiang B.,
RA Raymond C., Rodriguez R., Saenphimmachak C., Santibanez J., Shen H.,
RA Shen Y., Subramanian S., Tabor P.E., Verduzco D., Waldron L., Wang J.,
RA Wang J., Wang Q., Williams G.A., Wong G.K.-S., Yao Z., Zhang J., Zhang X.,
RA Zhao G., Zhou J., Zhou Y., Nelson D., Lehrach H., Reinhardt R.,
RA Naylor S.L., Yang H., Olson M., Weinstock G., Gibbs R.A.;
RT "The DNA sequence, annotation and analysis of human chromosome 3.";
RL Nature 440:1194-1198(2006).
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
RC TISSUE=Testis;
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 [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 357-1242.
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., 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).
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DR EMBL; AC061705; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; BC136609; AAI36610.1; -; mRNA.
DR EMBL; AL834499; CAD39157.1; -; mRNA.
DR CCDS; CCDS54686.1; -.
DR RefSeq; NP_001307302.1; NM_001320373.1.
DR RefSeq; NP_612354.1; NM_138345.2.
DR AlphaFoldDB; Q8N398; -.
DR BioGRID; 124663; 18.
DR IntAct; Q8N398; 4.
DR STRING; 9606.ENSP00000398688; -.
DR iPTMnet; Q8N398; -.
DR PhosphoSitePlus; Q8N398; -.
DR BioMuta; VWA5B2; -.
DR DMDM; 190461810; -.
DR jPOST; Q8N398; -.
DR MassIVE; Q8N398; -.
DR PaxDb; Q8N398; -.
DR PeptideAtlas; Q8N398; -.
DR PRIDE; Q8N398; -.
DR Antibodypedia; 52386; 51 antibodies from 10 providers.
DR DNASU; 90113; -.
DR Ensembl; ENST00000426955.6; ENSP00000398688.2; ENSG00000145198.15.
DR Ensembl; ENST00000691901.1; ENSP00000509115.1; ENSG00000145198.15.
DR GeneID; 90113; -.
DR KEGG; hsa:90113; -.
DR MANE-Select; ENST00000691901.1; ENSP00000509115.1; NM_001390846.1; NP_001377775.1.
DR UCSC; uc011bra.3; human.
DR CTD; 90113; -.
DR DisGeNET; 90113; -.
DR GeneCards; VWA5B2; -.
DR HGNC; HGNC:25144; VWA5B2.
DR HPA; ENSG00000145198; Tissue enhanced (adrenal gland, brain).
DR neXtProt; NX_Q8N398; -.
DR OpenTargets; ENSG00000145198; -.
DR PharmGKB; PA162409079; -.
DR VEuPathDB; HostDB:ENSG00000145198; -.
DR eggNOG; ENOG502QW0V; Eukaryota.
DR GeneTree; ENSGT00940000157096; -.
DR HOGENOM; CLU_005270_1_0_1; -.
DR InParanoid; Q8N398; -.
DR OMA; LDWDMLV; -.
DR OrthoDB; 955432at2759; -.
DR PhylomeDB; Q8N398; -.
DR TreeFam; TF329720; -.
DR PathwayCommons; Q8N398; -.
DR SignaLink; Q8N398; -.
DR BioGRID-ORCS; 90113; 8 hits in 1059 CRISPR screens.
DR GenomeRNAi; 90113; -.
DR Pharos; Q8N398; Tdark.
DR PRO; PR:Q8N398; -.
DR Proteomes; UP000005640; Chromosome 3.
DR RNAct; Q8N398; protein.
DR Bgee; ENSG00000145198; Expressed in right hemisphere of cerebellum and 88 other tissues.
DR ExpressionAtlas; Q8N398; baseline and differential.
DR Genevisible; Q8N398; HS.
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 SUPFAM; SSF53300; SSF53300; 1.
DR PROSITE; PS51468; VIT; 1.
PE 2: Evidence at transcript level;
KW Reference proteome.
FT CHAIN 1..1242
FT /note="von Willebrand factor A domain-containing protein
FT 5B2"
FT /id="PRO_0000339302"
FT DOMAIN 1..138
FT /note="VIT"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00801"
FT DOMAIN 354..527
FT /note="VWFA"
FT REGION 569..650
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 670..726
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 751..794
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 957..976
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 987..1055
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 1118..1159
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 599..638
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 674..693
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 996..1010
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 1120..1146
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT VARIANT 200
FT /note="P -> S (in dbSNP:rs902417)"
FT /id="VAR_043939"
SQ SEQUENCE 1242 AA; 131668 MW; B0E6EB4039B2AFA5 CRC64;
MPGLYCPSSW TPLPLTDSWV RACANGPCLS VRARLTYRNP QPQPVDGVFV YPLAEAEVVS
GFEAEAAGRR VSFQLQSRRR SQAACCRALG PGLGTPTPRR CAQGHLVLDL AQARSTLVLP
TGIIAAAGTM TVTLHSSREL PSRPDGVLHV ALPTVLTPLA PPGPPGPPRP PGLCDDSPTS
CFGVGSLQEE GLAWEELAAP RDVFSGPARC PAPYTFSFEM LVTGPCLLAG LESPSHALRA
DAPPHASSAA TICVTLAEGH HCDRALEILL HPSEPHQPHL MLEGGSLSSA EYEARVRARR
DFQRLQRRDS DGDRQVWFLQ RRFHKDILLN PVLALSFCPD LSSKPGHLGT ATRELLFLLD
SSSVAHKDAI VLAVKSLPPQ TLINLAVFGT LVQPLFPESR PCSDDAVQLI CESIETLQVP
SGPPDVLAAL DWAVGQPQHR AYPRQLFLLT AASPMAATTH RTLELMRWHR GTARCFSFGL
GPTCHQLLQG LSALSRGQAY FLRPGQRLQP MLVQALRKAL EPALSDISVD WFVPDTVEAL
LTPREIPALY PGDQLLGYCS LFRVDGFRSR PPGGQEPGWQ SSGGSVFPSP EEAPSAASPG
TEPTGTSEPL GTGTVSAELS SPWAARDSEQ STDALTDPVT DPGPNPSDTA IWRRIFQSSY
IREQYVLTHC SASPEPGPGS TGSSESPGSQ GPGSPEGSAP LEPPSQQGCR SLAWGEPAGS
RSCPLPAPTP APFKVGALST EVLGRQHRAA LAGRSLSSPP GRANQVPGRP RKPSLGAILD
GPSPEPGQQL GQGLDDSGNL LSPAPMDWDM LMEPPFLFTA VPPSGELAPP AVPPQAPRCH
VVIRGLCGEQ PMCWEVGVGL ETLWGPGDGS QPPSPPVREA AWDQALHRLT AASVVRDNEQ
LALRGGAETT ADRGHARRCW LRALQTSKVS SAPSCFTCPV AVDATTREVL PGALQVCSSE
PAEPPGTPPA SHSHLDAAPL PTVVYSKGLQ RGSPAGAWDS DQNGNSKRAL GDPATPTEGP
RRPPPRPPCR LSMGRRHKLC SPDPGQANNS EGSDHDYLPL VRLQEAPGSF RLDAPFCAAV
RISQERLCRA SPFAVHRASL SPTSASLPWA LLGPGVGQGD SATASCSPSP SSGSEGPGQV
DSGRGSDTEA SEGAEGLGGT DLRGRTWATA VALAWLEHRC AAAFDEWELT AAKADCWLRA
QHLPDGLDLA ALKAAARGLF LLLRHWDQNL QLHLLCYSPA NV
