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Protein

von Willebrand factor A domain-containing protein 7

Gene

VWA7

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 3 out of 5-Experimental evidence at transcript leveli

Names & Taxonomyi

Protein namesi
Recommended name:
von Willebrand factor A domain-containing protein 7
Alternative name(s):
Protein G7c
Gene namesi
Name:VWA7
Synonyms:C6orf27, G7C, NG37
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 6

Organism-specific databases

HGNCiHGNC:13939. VWA7.

Subcellular locationi

GO - Cellular componenti

Complete GO annotation...

Keywords - Cellular componenti

Secreted

Pathology & Biotechi

Organism-specific databases

PharmGKBiPA25928.

Polymorphism and mutation databases

BioMutaiVWA7.
DMDMi294862535.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Signal peptidei1 – 2828Sequence analysisAdd
BLAST
Chaini29 – 891863von Willebrand factor A domain-containing protein 7PRO_0000231631Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Glycosylationi55 – 551N-linked (GlcNAc...)Sequence analysis

Keywords - PTMi

Glycoprotein

Proteomic databases

PaxDbiQ9Y334.
PeptideAtlasiQ9Y334.
PRIDEiQ9Y334.

PTM databases

iPTMnetiQ9Y334.

Expressioni

Tissue specificityi

Expressed at low level in different cell lines.1 Publication

Gene expression databases

BgeeiQ9Y334.
CleanExiHS_C6orf27.
GenevisibleiQ9Y334. HS.

Organism-specific databases

HPAiHPA046954.
HPA054262.
HPA055033.

Interactioni

Protein-protein interaction databases

BioGridi123282. 2 interactions.
STRINGi9606.ENSP00000364840.

Structurei

3D structure databases

ProteinModelPortaliQ9Y334.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Domaini313 – 506194VWFAAdd
BLAST

Sequence similaritiesi

Contains 1 VWFA domain.Curated

Keywords - Domaini

Signal

Phylogenomic databases

eggNOGiKOG4475. Eukaryota.
ENOG410ZN3C. LUCA.
GeneTreeiENSGT00390000011517.
HOVERGENiHBG080564.
InParanoidiQ9Y334.
OMAiGSVTHQD.
PhylomeDBiQ9Y334.
TreeFamiTF329905.

Family and domain databases

InterProiIPR002035. VWF_A.
[Graphical view]
SUPFAMiSSF53300. SSF53300. 1 hit.

Sequences (2)i

Sequence statusi: Complete.

Sequence processingi: The displayed sequence is further processed into a mature form.

This entry describes 2 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: Q9Y334-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide

        10         20         30         40         50
MLPTEVPQSH PGPSALLLLQ LLLPPTSAFF PNIWSLLAAP GSITHQDLTE
60 70 80 90 100
EAALNVTLQL FLEQPPPGRP PLRLEDFLGR TLLADDLFAA YFGPGSSRRF
110 120 130 140 150
RAALGEVSRA NAAQDFLPTS RNDPDLHFDA ERLGQGRARL VGALRETVVA
160 170 180 190 200
ARALDHTLAR QRLGAALHAL QDFYSHSNWV ELGEQQPHPH LLWPRQELQN
210 220 230 240 250
LAQVADPTCS DCEELSCPRN WLGFTLLTSG YFGTHPPKPP GKCSHGGHFD
260 270 280 290 300
RSSSQPPRGG INKDSTSPGF SPHHMLHLQA AKLALLASIQ AFSLLRSRLG
310 320 330 340 350
DRDFSRLLDI TPASSLSFVL DTTGSMGEEI NAAKIQARHL VEQRRGSPME
360 370 380 390 400
PVHYVLVPFH DPGFGPVFTT SDPDSFWQQL NEIHALGGGD EPEMCLSALQ
410 420 430 440 450
LALLHTPPLS DIFVFTDASP KDAFLTNQVE SLTQERRCRV TFLVTEDTSR
460 470 480 490 500
VQGRARREIL SPLRFEPYKA VALASGGEVI FTKDQHIRDV AAIVGESMAA
510 520 530 540 550
LVTLPLDPPV VVPGQPLVFS VDGLLQKITV RIHGDISSFW IKNPAGVSQG
560 570 580 590 600
QEEGGGPLGH TRRFGQFWMV TMDDPPQTGT WEIQVTAEDT PGVRVQAQTS
610 620 630 640 650
LDFLFHFGIP MEDGPHPGLY PLTQPVAGLQ TQLLVEVTGL GSRANPGDPQ
660 670 680 690 700
PHFSHVILRG VPEGAELGQV PLEPVGPPER GLLAASLSPT LLSTPRPFSL
710 720 730 740 750
ELIGQDAAGR RLHRAAPQPS TVVPVLLELS GPSGFLAPGS KVPLSLRIAS
760 770 780 790 800
FSGPQDLDLR TFVNPSFSLT SNLSRAHLEL NESAWGRLWL EVPDSAAPDS
810 820 830 840 850
VVMVTVTAGG REANPVPPTH AFLRLLVSAP APQDRHTTPT GSSDPILTTA
860 870 880 890
TPAFSPFTLV TQGRAGAGLA AGSPWWGTVG GVLLLLGLAS W
Length:891
Mass (Da):96,060
Last modified:April 20, 2010 - v4
Checksum:iFAA559F2B63752FF
GO
Isoform 2 (identifier: Q9Y334-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     834-860: DRHTTPTGSSDPILTTATPAFSPFTLV → VRNHYFPSQGPAHHPYRLI
     861-891: Missing.

Show »
Length:852
Mass (Da):92,513
Checksum:i1E2430B3F912A954
GO

Sequence cautioni

The sequence CAB52192.1 differs from that shown. Reason: Frameshift at positions 553, 559 and 783. Curated

Experimental Info

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Isoform 2 (identifier: Q9Y334-2)
Sequence conflicti837 – 8371H → Y in AAD21820 (PubMed:14656967).Curated

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti139 – 1391R → H.
Corresponds to variant rs17207531 [ dbSNP | Ensembl ].
VAR_056884
Natural varianti488 – 4881R → Q.
Corresponds to variant rs11966331 [ dbSNP | Ensembl ].
VAR_056885
Natural varianti680 – 6801R → Q.
Corresponds to variant rs28400004 [ dbSNP | Ensembl ].
VAR_056886
Natural varianti704 – 7041G → V.
Corresponds to variant rs28400002 [ dbSNP | Ensembl ].
VAR_056887
Natural varianti711 – 7111R → C.
Corresponds to variant rs28400001 [ dbSNP | Ensembl ].
VAR_056888
Natural varianti861 – 8611T → A.1 Publication
Corresponds to variant rs3101017 [ dbSNP | Ensembl ].
VAR_060378

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei834 – 86027DRHTT…PFTLV → VRNHYFPSQGPAHHPYRLI in isoform 2. 1 PublicationVSP_026494Add
BLAST
Alternative sequencei861 – 89131Missing in isoform 2. 1 PublicationVSP_026495Add
BLAST

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF134726 Genomic DNA. Translation: AAD21820.1.
BA000025 Genomic DNA. Translation: BAB63304.1.
AL662834 Genomic DNA. Translation: CAI17731.2.
AL662899 Genomic DNA. Translation: CAI18431.2.
BX248133 Genomic DNA. Translation: CAM26111.1.
CR759915 Genomic DNA. Translation: CAQ07251.1.
CR759787 Genomic DNA. Translation: CAQ10124.1.
CR925765 Genomic DNA. Translation: CAQ10618.1.
AJ245418 mRNA. Translation: CAB52192.1. Frameshift.
CCDSiCCDS4721.2. [Q9Y334-1]
RefSeqiNP_079534.2. NM_025258.2. [Q9Y334-1]
UniGeneiHs.558553.

Genome annotation databases

EnsembliENST00000375688; ENSP00000364840; ENSG00000204396. [Q9Y334-1]
ENST00000430726; ENSP00000411910; ENSG00000234433. [Q9Y334-1]
ENST00000438415; ENSP00000390732; ENSG00000230048. [Q9Y334-1]
ENST00000438725; ENSP00000413704; ENSG00000223757. [Q9Y334-1]
ENST00000452329; ENSP00000406943; ENSG00000238203. [Q9Y334-1]
ENST00000550450; ENSP00000450313; ENSG00000227144.
GeneIDi80737.
KEGGihsa:80737.
UCSCiuc011dog.3. human. [Q9Y334-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF134726 Genomic DNA. Translation: AAD21820.1.
BA000025 Genomic DNA. Translation: BAB63304.1.
AL662834 Genomic DNA. Translation: CAI17731.2.
AL662899 Genomic DNA. Translation: CAI18431.2.
BX248133 Genomic DNA. Translation: CAM26111.1.
CR759915 Genomic DNA. Translation: CAQ07251.1.
CR759787 Genomic DNA. Translation: CAQ10124.1.
CR925765 Genomic DNA. Translation: CAQ10618.1.
AJ245418 mRNA. Translation: CAB52192.1. Frameshift.
CCDSiCCDS4721.2. [Q9Y334-1]
RefSeqiNP_079534.2. NM_025258.2. [Q9Y334-1]
UniGeneiHs.558553.

3D structure databases

ProteinModelPortaliQ9Y334.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi123282. 2 interactions.
STRINGi9606.ENSP00000364840.

PTM databases

iPTMnetiQ9Y334.

Polymorphism and mutation databases

BioMutaiVWA7.
DMDMi294862535.

Proteomic databases

PaxDbiQ9Y334.
PeptideAtlasiQ9Y334.
PRIDEiQ9Y334.

Protocols and materials databases

DNASUi80737.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000375688; ENSP00000364840; ENSG00000204396. [Q9Y334-1]
ENST00000430726; ENSP00000411910; ENSG00000234433. [Q9Y334-1]
ENST00000438415; ENSP00000390732; ENSG00000230048. [Q9Y334-1]
ENST00000438725; ENSP00000413704; ENSG00000223757. [Q9Y334-1]
ENST00000452329; ENSP00000406943; ENSG00000238203. [Q9Y334-1]
ENST00000550450; ENSP00000450313; ENSG00000227144.
GeneIDi80737.
KEGGihsa:80737.
UCSCiuc011dog.3. human. [Q9Y334-1]

Organism-specific databases

CTDi80737.
GeneCardsiVWA7.
H-InvDBHIX0165919.
HIX0166170.
HIX0166359.
HIX0166880.
HIX0167373.
HIX0200863.
HGNCiHGNC:13939. VWA7.
HPAiHPA046954.
HPA054262.
HPA055033.
MIMi609693. gene.
neXtProtiNX_Q9Y334.
PharmGKBiPA25928.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG4475. Eukaryota.
ENOG410ZN3C. LUCA.
GeneTreeiENSGT00390000011517.
HOVERGENiHBG080564.
InParanoidiQ9Y334.
OMAiGSVTHQD.
PhylomeDBiQ9Y334.
TreeFamiTF329905.

Miscellaneous databases

ChiTaRSiVWA7. human.
GenomeRNAii80737.
PROiQ9Y334.
SOURCEiSearch...

Gene expression databases

BgeeiQ9Y334.
CleanExiHS_C6orf27.
GenevisibleiQ9Y334. HS.

Family and domain databases

InterProiIPR002035. VWF_A.
[Graphical view]
SUPFAMiSSF53300. SSF53300. 1 hit.
ProtoNetiSearch...

Publicationsi

« Hide 'large scale' publications
  1. "Analysis of the gene-dense major histocompatibility complex class III region and its comparison to mouse."
    Xie T., Rowen L., Aguado B., Ahearn M.E., Madan A., Qin S., Campbell R.D., Hood L.
    Genome Res. 13:2621-2636(2003) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA], VARIANT ALA-861.
  2. "Homo sapiens 2,229,817bp genomic DNA of 6p21.3 HLA class I region."
    Shiina S., Tamiya G., Oka A., Inoko H.
    Submitted (AUG-2001) to the EMBL/GenBank/DDBJ databases
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  3. "The DNA sequence and analysis of human chromosome 6."
    Mungall A.J., Palmer S.A., Sims S.K., Edwards C.A., Ashurst J.L., Wilming L., Jones M.C., Horton R., Hunt S.E., Scott C.E., Gilbert J.G.R., Clamp M.E., Bethel G., Milne S., Ainscough R., Almeida J.P., Ambrose K.D., Andrews T.D.
    , Ashwell R.I.S., Babbage A.K., Bagguley C.L., Bailey J., Banerjee R., Barker D.J., Barlow K.F., Bates K., Beare D.M., Beasley H., Beasley O., Bird C.P., Blakey S.E., Bray-Allen S., Brook J., Brown A.J., Brown J.Y., Burford D.C., Burrill W., Burton J., Carder C., Carter N.P., Chapman J.C., Clark S.Y., Clark G., Clee C.M., Clegg S., Cobley V., Collier R.E., Collins J.E., Colman L.K., Corby N.R., Coville G.J., Culley K.M., Dhami P., Davies J., Dunn M., Earthrowl M.E., Ellington A.E., Evans K.A., Faulkner L., Francis M.D., Frankish A., Frankland J., French L., Garner P., Garnett J., Ghori M.J., Gilby L.M., Gillson C.J., Glithero R.J., Grafham D.V., Grant M., Gribble S., Griffiths C., Griffiths M.N.D., Hall R., Halls K.S., Hammond S., Harley J.L., Hart E.A., Heath P.D., Heathcott R., Holmes S.J., Howden P.J., Howe K.L., Howell G.R., Huckle E., Humphray S.J., Humphries M.D., Hunt A.R., Johnson C.M., Joy A.A., Kay M., Keenan S.J., Kimberley A.M., King A., Laird G.K., Langford C., Lawlor S., Leongamornlert D.A., Leversha M., Lloyd C.R., Lloyd D.M., Loveland J.E., Lovell J., Martin S., Mashreghi-Mohammadi M., Maslen G.L., Matthews L., McCann O.T., McLaren S.J., McLay K., McMurray A., Moore M.J.F., Mullikin J.C., Niblett D., Nickerson T., Novik K.L., Oliver K., Overton-Larty E.K., Parker A., Patel R., Pearce A.V., Peck A.I., Phillimore B.J.C.T., Phillips S., Plumb R.W., Porter K.M., Ramsey Y., Ranby S.A., Rice C.M., Ross M.T., Searle S.M., Sehra H.K., Sheridan E., Skuce C.D., Smith S., Smith M., Spraggon L., Squares S.L., Steward C.A., Sycamore N., Tamlyn-Hall G., Tester J., Theaker A.J., Thomas D.W., Thorpe A., Tracey A., Tromans A., Tubby B., Wall M., Wallis J.M., West A.P., White S.S., Whitehead S.L., Whittaker H., Wild A., Willey D.J., Wilmer T.E., Wood J.M., Wray P.W., Wyatt J.C., Young L., Younger R.M., Bentley D.R., Coulson A., Durbin R.M., Hubbard T., Sulston J.E., Dunham I., Rogers J., Beck S.
    Nature 425:805-811(2003) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  4. "G7c, a novel gene in the mouse and human major histocompatibility complex class III region, possibly controlling lung tumor susceptibility."
    Snoek M., Albertella M.R., van Kooij M., Wixon J., van Vugt H., de Groot K., Campbell R.D.
    Immunogenetics 51:383-386(2000) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 299-837 (ISOFORM 2), TISSUE SPECIFICITY.

Entry informationi

Entry nameiVWA7_HUMAN
AccessioniPrimary (citable) accession number: Q9Y334
Secondary accession number(s): A2BEX8
, A6NHR6, B0V041, Q5SSR5, Q96QC8, Q9UMP9
Entry historyi
Integrated into UniProtKB/Swiss-Prot: April 4, 2006
Last sequence update: April 20, 2010
Last modified: July 6, 2016
This is version 111 of the entry and version 4 of the sequence. [Complete history]
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Miscellaneous

Found in the major hispocompatibility complex class III region. May be implicated in susceptibility to lung tumors.

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 6
    Human chromosome 6: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. SIMILARITY comments
    Index of protein domains and families

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.