VWA7_HUMAN
ID VWA7_HUMAN Reviewed; 891 AA.
AC Q9Y334; A2BEX8; A6NHR6; B0V041; Q5SSR5; Q96QC8; Q9UMP9;
DT 04-APR-2006, integrated into UniProtKB/Swiss-Prot.
DT 20-APR-2010, sequence version 4.
DT 03-AUG-2022, entry version 145.
DE RecName: Full=von Willebrand factor A domain-containing protein 7;
DE AltName: Full=Protein G7c;
DE Flags: Precursor;
GN Name=VWA7; Synonyms=C6orf27, G7C, NG37;
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], AND VARIANT ALA-861.
RX PubMed=14656967; DOI=10.1101/gr.1736803;
RA Xie T., Rowen L., Aguado B., Ahearn M.E., Madan A., Qin S., Campbell R.D.,
RA Hood L.;
RT "Analysis of the gene-dense major histocompatibility complex class III
RT region and its comparison to mouse.";
RL Genome Res. 13:2621-2636(2003).
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RA Shiina S., Tamiya G., Oka A., Inoko H.;
RT "Homo sapiens 2,229,817bp genomic DNA of 6p21.3 HLA class I region.";
RL Submitted (AUG-2001) to the EMBL/GenBank/DDBJ databases.
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=14574404; DOI=10.1038/nature02055;
RA Mungall A.J., Palmer S.A., Sims S.K., Edwards C.A., Ashurst J.L.,
RA Wilming L., Jones M.C., Horton R., Hunt S.E., Scott C.E., Gilbert J.G.R.,
RA Clamp M.E., Bethel G., Milne S., Ainscough R., Almeida J.P., Ambrose K.D.,
RA Andrews T.D., Ashwell R.I.S., Babbage A.K., Bagguley C.L., Bailey J.,
RA Banerjee R., Barker D.J., Barlow K.F., Bates K., Beare D.M., Beasley H.,
RA Beasley O., Bird C.P., Blakey S.E., Bray-Allen S., Brook J., Brown A.J.,
RA Brown J.Y., Burford D.C., Burrill W., Burton J., Carder C., Carter N.P.,
RA Chapman J.C., Clark S.Y., Clark G., Clee C.M., Clegg S., Cobley V.,
RA Collier R.E., Collins J.E., Colman L.K., Corby N.R., Coville G.J.,
RA Culley K.M., Dhami P., Davies J., Dunn M., Earthrowl M.E., Ellington A.E.,
RA Evans K.A., Faulkner L., Francis M.D., Frankish A., Frankland J.,
RA French L., Garner P., Garnett J., Ghori M.J., Gilby L.M., Gillson C.J.,
RA Glithero R.J., Grafham D.V., Grant M., Gribble S., Griffiths C.,
RA Griffiths M.N.D., Hall R., Halls K.S., Hammond S., Harley J.L., Hart E.A.,
RA Heath P.D., Heathcott R., Holmes S.J., Howden P.J., Howe K.L., Howell G.R.,
RA Huckle E., Humphray S.J., Humphries M.D., Hunt A.R., Johnson C.M.,
RA Joy A.A., Kay M., Keenan S.J., Kimberley A.M., King A., Laird G.K.,
RA Langford C., Lawlor S., Leongamornlert D.A., Leversha M., Lloyd C.R.,
RA Lloyd D.M., Loveland J.E., Lovell J., Martin S., Mashreghi-Mohammadi M.,
RA Maslen G.L., Matthews L., McCann O.T., McLaren S.J., McLay K., McMurray A.,
RA Moore M.J.F., Mullikin J.C., Niblett D., Nickerson T., Novik K.L.,
RA Oliver K., Overton-Larty E.K., Parker A., Patel R., Pearce A.V., Peck A.I.,
RA Phillimore B.J.C.T., Phillips S., Plumb R.W., Porter K.M., Ramsey Y.,
RA Ranby S.A., Rice C.M., Ross M.T., Searle S.M., Sehra H.K., Sheridan E.,
RA Skuce C.D., Smith S., Smith M., Spraggon L., Squares S.L., Steward C.A.,
RA Sycamore N., Tamlyn-Hall G., Tester J., Theaker A.J., Thomas D.W.,
RA Thorpe A., Tracey A., Tromans A., Tubby B., Wall M., Wallis J.M.,
RA West A.P., White S.S., Whitehead S.L., Whittaker H., Wild A., Willey D.J.,
RA Wilmer T.E., Wood J.M., Wray P.W., Wyatt J.C., Young L., Younger R.M.,
RA Bentley D.R., Coulson A., Durbin R.M., Hubbard T., Sulston J.E., Dunham I.,
RA Rogers J., Beck S.;
RT "The DNA sequence and analysis of human chromosome 6.";
RL Nature 425:805-811(2003).
RN [4]
RP NUCLEOTIDE SEQUENCE [MRNA] OF 299-837 (ISOFORM 2), AND TISSUE SPECIFICITY.
RX PubMed=10803853; DOI=10.1007/s002510050634;
RA Snoek M., Albertella M.R., van Kooij M., Wixon J., van Vugt H.,
RA de Groot K., Campbell R.D.;
RT "G7c, a novel gene in the mouse and human major histocompatibility complex
RT class III region, possibly controlling lung tumor susceptibility.";
RL Immunogenetics 51:383-386(2000).
CC -!- SUBCELLULAR LOCATION: Secreted {ECO:0000305}.
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=2;
CC Name=1;
CC IsoId=Q9Y334-1; Sequence=Displayed;
CC Name=2;
CC IsoId=Q9Y334-2; Sequence=VSP_026494, VSP_026495;
CC -!- TISSUE SPECIFICITY: Expressed at low level in different cell lines.
CC {ECO:0000269|PubMed:10803853}.
CC -!- MISCELLANEOUS: Found in the major hispocompatibility complex class III
CC region. May be implicated in susceptibility to lung tumors.
CC -!- SEQUENCE CAUTION:
CC Sequence=CAB52192.1; Type=Frameshift; Evidence={ECO:0000305};
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DR EMBL; AF134726; AAD21820.1; -; Genomic_DNA.
DR EMBL; BA000025; BAB63304.1; -; Genomic_DNA.
DR EMBL; AL662834; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; AL662899; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; BX248133; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; CR759787; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; CR759915; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; CR925765; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; AJ245418; CAB52192.1; ALT_FRAME; mRNA.
DR CCDS; CCDS4721.2; -. [Q9Y334-1]
DR RefSeq; NP_079534.2; NM_025258.2. [Q9Y334-1]
DR AlphaFoldDB; Q9Y334; -.
DR SMR; Q9Y334; -.
DR BioGRID; 123282; 3.
DR IntAct; Q9Y334; 1.
DR STRING; 9606.ENSP00000364840; -.
DR GlyGen; Q9Y334; 1 site.
DR iPTMnet; Q9Y334; -.
DR PhosphoSitePlus; Q9Y334; -.
DR BioMuta; VWA7; -.
DR DMDM; 294862535; -.
DR MassIVE; Q9Y334; -.
DR PaxDb; Q9Y334; -.
DR PeptideAtlas; Q9Y334; -.
DR PRIDE; Q9Y334; -.
DR ProteomicsDB; 85968; -. [Q9Y334-1]
DR ProteomicsDB; 85969; -. [Q9Y334-2]
DR Antibodypedia; 56596; 15 antibodies from 5 providers.
DR DNASU; 80737; -.
DR Ensembl; ENST00000375688.5; ENSP00000364840.4; ENSG00000204396.11. [Q9Y334-1]
DR Ensembl; ENST00000430726.2; ENSP00000411910.2; ENSG00000234433.8. [Q9Y334-1]
DR Ensembl; ENST00000438415.2; ENSP00000390732.2; ENSG00000230048.8. [Q9Y334-1]
DR Ensembl; ENST00000438725.2; ENSP00000413704.2; ENSG00000223757.8. [Q9Y334-1]
DR Ensembl; ENST00000452329.2; ENSP00000406943.2; ENSG00000238203.8. [Q9Y334-1]
DR GeneID; 80737; -.
DR KEGG; hsa:80737; -.
DR MANE-Select; ENST00000375688.5; ENSP00000364840.4; NM_025258.3; NP_079534.2.
DR UCSC; uc011dog.3; human. [Q9Y334-1]
DR CTD; 80737; -.
DR DisGeNET; 80737; -.
DR GeneCards; VWA7; -.
DR HGNC; HGNC:13939; VWA7.
DR HPA; ENSG00000204396; Tissue enhanced (pituitary).
DR MIM; 609693; gene.
DR neXtProt; NX_Q9Y334; -.
DR OpenTargets; ENSG00000204396; -.
DR PharmGKB; PA25928; -.
DR VEuPathDB; HostDB:ENSG00000204396; -.
DR eggNOG; KOG4475; Eukaryota.
DR GeneTree; ENSGT00390000011517; -.
DR HOGENOM; CLU_013884_0_0_1; -.
DR InParanoid; Q9Y334; -.
DR OMA; MEPIHYV; -.
DR PhylomeDB; Q9Y334; -.
DR TreeFam; TF329905; -.
DR PathwayCommons; Q9Y334; -.
DR SignaLink; Q9Y334; -.
DR BioGRID-ORCS; 80737; 18 hits in 1061 CRISPR screens.
DR ChiTaRS; VWA7; human.
DR GenomeRNAi; 80737; -.
DR Pharos; Q9Y334; Tdark.
DR PRO; PR:Q9Y334; -.
DR Proteomes; UP000005640; Chromosome 6.
DR RNAct; Q9Y334; protein.
DR Bgee; ENSG00000204396; Expressed in right uterine tube and 91 other tissues.
DR ExpressionAtlas; Q9Y334; baseline and differential.
DR Genevisible; Q9Y334; HS.
DR GO; GO:0005576; C:extracellular region; IEA:UniProtKB-SubCell.
DR Gene3D; 3.40.50.410; -; 1.
DR InterPro; IPR036465; vWFA_dom_sf.
DR SUPFAM; SSF53300; SSF53300; 1.
PE 2: Evidence at transcript level;
KW Alternative splicing; Glycoprotein; Reference proteome; Secreted; Signal.
FT SIGNAL 1..28
FT /evidence="ECO:0000255"
FT CHAIN 29..891
FT /note="von Willebrand factor A domain-containing protein 7"
FT /id="PRO_0000231631"
FT DOMAIN 313..506
FT /note="VWFA"
FT REGION 237..272
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 248..269
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT CARBOHYD 55
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000255"
FT VAR_SEQ 834..860
FT /note="DRHTTPTGSSDPILTTATPAFSPFTLV -> VRNHYFPSQGPAHHPYRLI
FT (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:10803853"
FT /id="VSP_026494"
FT VAR_SEQ 861..891
FT /note="Missing (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:10803853"
FT /id="VSP_026495"
FT VARIANT 139
FT /note="R -> H (in dbSNP:rs17207531)"
FT /id="VAR_056884"
FT VARIANT 488
FT /note="R -> Q (in dbSNP:rs11966331)"
FT /id="VAR_056885"
FT VARIANT 680
FT /note="R -> Q (in dbSNP:rs28400004)"
FT /id="VAR_056886"
FT VARIANT 704
FT /note="G -> V (in dbSNP:rs28400002)"
FT /id="VAR_056887"
FT VARIANT 711
FT /note="R -> C (in dbSNP:rs28400001)"
FT /id="VAR_056888"
FT VARIANT 861
FT /note="T -> A (in dbSNP:rs3101017)"
FT /evidence="ECO:0000269|PubMed:14656967"
FT /id="VAR_060378"
FT CONFLICT Q9Y334-2:837
FT /note="H -> Y (in Ref. 1; AAD21820)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 891 AA; 96060 MW; FAA559F2B63752FF CRC64;
MLPTEVPQSH PGPSALLLLQ LLLPPTSAFF PNIWSLLAAP GSITHQDLTE EAALNVTLQL
FLEQPPPGRP PLRLEDFLGR TLLADDLFAA YFGPGSSRRF RAALGEVSRA NAAQDFLPTS
RNDPDLHFDA ERLGQGRARL VGALRETVVA ARALDHTLAR QRLGAALHAL QDFYSHSNWV
ELGEQQPHPH LLWPRQELQN LAQVADPTCS DCEELSCPRN WLGFTLLTSG YFGTHPPKPP
GKCSHGGHFD RSSSQPPRGG INKDSTSPGF SPHHMLHLQA AKLALLASIQ AFSLLRSRLG
DRDFSRLLDI TPASSLSFVL DTTGSMGEEI NAAKIQARHL VEQRRGSPME PVHYVLVPFH
DPGFGPVFTT SDPDSFWQQL NEIHALGGGD EPEMCLSALQ LALLHTPPLS DIFVFTDASP
KDAFLTNQVE SLTQERRCRV TFLVTEDTSR VQGRARREIL SPLRFEPYKA VALASGGEVI
FTKDQHIRDV AAIVGESMAA LVTLPLDPPV VVPGQPLVFS VDGLLQKITV RIHGDISSFW
IKNPAGVSQG QEEGGGPLGH TRRFGQFWMV TMDDPPQTGT WEIQVTAEDT PGVRVQAQTS
LDFLFHFGIP MEDGPHPGLY PLTQPVAGLQ TQLLVEVTGL GSRANPGDPQ PHFSHVILRG
VPEGAELGQV PLEPVGPPER GLLAASLSPT LLSTPRPFSL ELIGQDAAGR RLHRAAPQPS
TVVPVLLELS GPSGFLAPGS KVPLSLRIAS FSGPQDLDLR TFVNPSFSLT SNLSRAHLEL
NESAWGRLWL EVPDSAAPDS VVMVTVTAGG REANPVPPTH AFLRLLVSAP APQDRHTTPT
GSSDPILTTA TPAFSPFTLV TQGRAGAGLA AGSPWWGTVG GVLLLLGLAS W
