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Protein

von Willebrand factor A domain-containing protein 1

Gene

VWA1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 4 out of 5-Experimental evidence at protein leveli

Functioni

Promotes matrix assembly.By similarity

GO - Biological processi

Complete GO annotation...

Names & Taxonomyi

Protein namesi
Recommended name:
von Willebrand factor A domain-containing protein 1
Gene namesi
Name:VWA1
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 1

Organism-specific databases

HGNCiHGNC:30910. VWA1.

Subcellular locationi

GO - Cellular componenti

  • basement membrane Source: UniProtKB-SubCell
  • extracellular exosome Source: UniProtKB
  • extracellular space Source: UniProtKB
  • interstitial matrix Source: Ensembl
Complete GO annotation...

Keywords - Cellular componenti

Basement membrane, Extracellular matrix, Secreted

Pathology & Biotechi

Organism-specific databases

PharmGKBiPA142670612.

Polymorphism and mutation databases

BioMutaiVWA1.
DMDMi74749155.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Signal peptidei1 – 2222Sequence analysisAdd
BLAST
Chaini23 – 445423von Willebrand factor A domain-containing protein 1PRO_0000307156Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Modified residuei74 – 741Phosphoserine; by FAM20C1 Publication
Modified residuei80 – 801Phosphoserine; by FAM20C1 Publication
Modified residuei83 – 831Phosphotyrosine1 Publication
Modified residuei93 – 931Phosphoserine; by FAM20C1 Publication
Glycosylationi264 – 2641N-linked (GlcNAc...)Sequence analysis

Post-translational modificationi

N-glycosylated.By similarity

Keywords - PTMi

Disulfide bond, Glycoprotein, Phosphoprotein

Proteomic databases

MaxQBiQ6PCB0.
PaxDbiQ6PCB0.
PRIDEiQ6PCB0.

PTM databases

iPTMnetiQ6PCB0.

Expressioni

Gene expression databases

BgeeiQ6PCB0.
CleanExiHS_VWA1.
ExpressionAtlasiQ6PCB0. baseline and differential.
GenevisibleiQ6PCB0. HS.

Organism-specific databases

HPAiHPA035382.
HPA035383.

Interactioni

Subunit structurei

Homodimer or homomultimer; disulfide-linked. Interacts with HSPG2.By similarity

Protein-protein interaction databases

BioGridi122329. 14 interactions.
STRINGi9606.ENSP00000417185.

Structurei

3D structure databases

ProteinModelPortaliQ6PCB0.
SMRiQ6PCB0. Positions 11-421.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Domaini34 – 213180VWFAPROSITE-ProRule annotationAdd
BLAST
Domaini214 – 30491Fibronectin type-III 1PROSITE-ProRule annotationAdd
BLAST
Domaini334 – 42794Fibronectin type-III 2PROSITE-ProRule annotationAdd
BLAST

Sequence similaritiesi

Contains 2 fibronectin type-III domains.PROSITE-ProRule annotation
Contains 1 VWFA domain.PROSITE-ProRule annotation

Keywords - Domaini

Repeat, Signal

Phylogenomic databases

eggNOGiKOG1217. Eukaryota.
KOG3544. Eukaryota.
ENOG410XNMM. LUCA.
GeneTreeiENSGT00810000125550.
HOGENOMiHOG000154834.
HOVERGENiHBG097455.
InParanoidiQ6PCB0.
OMAiLMGDTNT.
PhylomeDBiQ6PCB0.
TreeFamiTF316402.

Family and domain databases

Gene3Di2.60.40.10. 2 hits.
3.40.50.410. 1 hit.
InterProiIPR003961. FN3_dom.
IPR013783. Ig-like_fold.
IPR002035. VWF_A.
[Graphical view]
PfamiPF00041. fn3. 2 hits.
PF00092. VWA. 1 hit.
[Graphical view]
SMARTiSM00060. FN3. 2 hits.
SM00327. VWA. 1 hit.
[Graphical view]
SUPFAMiSSF49265. SSF49265. 2 hits.
SSF53300. SSF53300. 1 hit.
PROSITEiPS50853. FN3. 2 hits.
PS50234. VWFA. 1 hit.
[Graphical view]

Sequences (3)i

Sequence statusi: Complete.

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

This entry describes 3 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: Q6PCB0-1) [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
MLPWTALGLA LSLRLALARS GAERGPPASA PRGDLMFLLD SSASVSHYEF
60 70 80 90 100
SRVREFVGQL VAPLPLGTGA LRASLVHVGS RPYTEFPFGQ HSSGEAAQDA
110 120 130 140 150
VRASAQRMGD THTGLALVYA KEQLFAEASG ARPGVPKVLV WVTDGGSSDP
160 170 180 190 200
VGPPMQELKD LGVTVFIVST GRGNFLELSA AASAPAEKHL HFVDVDDLHI
210 220 230 240 250
IVQELRGSIL DAMRPQQLHA TEITSSGFRL AWPPLLTADS GYYVLELVPS
260 270 280 290 300
AQPGAARRQQ LPGNATDWIW AGLDPDTDYD VALVPESNVR LLRPQILRVR
310 320 330 340 350
TRPGEAGPGA SGPESGAGPA PTQLAALPAP EEAGPERIVI SHARPRSLRV
360 370 380 390 400
SWAPALGSAA ALGYHVQFGP LRGGEAQRVE VPAGRNCTTL QGLAPGTAYL
410 420 430 440
VTVTAAFRSG RESALSAKAC TPDGPRPRPR PVPRAPTPGT ASREP
Length:445
Mass (Da):46,804
Last modified:July 5, 2004 - v1
Checksum:iD9FBDE9C0A4DEBDF
GO
Isoform 2 (identifier: Q6PCB0-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-212: Missing.

Show »
Length:233
Mass (Da):24,474
Checksum:iB2CC118FC5B7EC50
GO
Isoform 3 (identifier: Q6PCB0-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     26-64: PPASAPRGDL...EFVGQLVAPL → AQGPGRHRVH...REAPALCGRG
     65-445: Missing.

Note: No experimental confirmation available.
Show »
Length:64
Mass (Da):6,822
Checksum:i2C9B57D0E1D29D6B
GO

Experimental Info

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti9 – 91L → Q in BAF84246 (PubMed:14702039).Curated

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei1 – 212212Missing in isoform 2. 1 PublicationVSP_028617Add
BLAST
Alternative sequencei26 – 6439PPASA…LVAPL → AQGPGRHRVHCQHRPRQLPG AVSRCLSPCREAPALCGRG in isoform 3. CuratedVSP_046651Add
BLAST
Alternative sequencei65 – 445381Missing in isoform 3. CuratedVSP_046652Add
BLAST

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AK025868 mRNA. Translation: BAB15264.1.
AK096773 mRNA. Translation: BAG53363.1.
AK291557 mRNA. Translation: BAF84246.1.
AL391244 Genomic DNA. Translation: CAI22657.1.
CH471183 Genomic DNA. Translation: EAW56197.1.
CH471183 Genomic DNA. Translation: EAW56198.1.
BC003543 mRNA. Translation: AAH03543.2.
BC059409 mRNA. Translation: AAH59409.1.
CCDSiCCDS27.1. [Q6PCB0-1]
CCDS28.2. [Q6PCB0-3]
RefSeqiNP_073745.2. NM_022834.4. [Q6PCB0-1]
NP_954572.2. NM_199121.2. [Q6PCB0-3]
UniGeneiHs.449009.

Genome annotation databases

EnsembliENST00000338660; ENSP00000423404; ENSG00000179403. [Q6PCB0-3]
ENST00000476993; ENSP00000417185; ENSG00000179403. [Q6PCB0-1]
GeneIDi64856.
KEGGihsa:64856.
UCSCiuc001afr.4. human. [Q6PCB0-1]

Keywords - Coding sequence diversityi

Alternative splicing

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AK025868 mRNA. Translation: BAB15264.1.
AK096773 mRNA. Translation: BAG53363.1.
AK291557 mRNA. Translation: BAF84246.1.
AL391244 Genomic DNA. Translation: CAI22657.1.
CH471183 Genomic DNA. Translation: EAW56197.1.
CH471183 Genomic DNA. Translation: EAW56198.1.
BC003543 mRNA. Translation: AAH03543.2.
BC059409 mRNA. Translation: AAH59409.1.
CCDSiCCDS27.1. [Q6PCB0-1]
CCDS28.2. [Q6PCB0-3]
RefSeqiNP_073745.2. NM_022834.4. [Q6PCB0-1]
NP_954572.2. NM_199121.2. [Q6PCB0-3]
UniGeneiHs.449009.

3D structure databases

ProteinModelPortaliQ6PCB0.
SMRiQ6PCB0. Positions 11-421.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi122329. 14 interactions.
STRINGi9606.ENSP00000417185.

PTM databases

iPTMnetiQ6PCB0.

Polymorphism and mutation databases

BioMutaiVWA1.
DMDMi74749155.

Proteomic databases

MaxQBiQ6PCB0.
PaxDbiQ6PCB0.
PRIDEiQ6PCB0.

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000338660; ENSP00000423404; ENSG00000179403. [Q6PCB0-3]
ENST00000476993; ENSP00000417185; ENSG00000179403. [Q6PCB0-1]
GeneIDi64856.
KEGGihsa:64856.
UCSCiuc001afr.4. human. [Q6PCB0-1]

Organism-specific databases

CTDi64856.
GeneCardsiVWA1.
HGNCiHGNC:30910. VWA1.
HPAiHPA035382.
HPA035383.
MIMi611901. gene.
neXtProtiNX_Q6PCB0.
PharmGKBiPA142670612.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG1217. Eukaryota.
KOG3544. Eukaryota.
ENOG410XNMM. LUCA.
GeneTreeiENSGT00810000125550.
HOGENOMiHOG000154834.
HOVERGENiHBG097455.
InParanoidiQ6PCB0.
OMAiLMGDTNT.
PhylomeDBiQ6PCB0.
TreeFamiTF316402.

Miscellaneous databases

GenomeRNAii64856.
PROiQ6PCB0.
SOURCEiSearch...

Gene expression databases

BgeeiQ6PCB0.
CleanExiHS_VWA1.
ExpressionAtlasiQ6PCB0. baseline and differential.
GenevisibleiQ6PCB0. HS.

Family and domain databases

Gene3Di2.60.40.10. 2 hits.
3.40.50.410. 1 hit.
InterProiIPR003961. FN3_dom.
IPR013783. Ig-like_fold.
IPR002035. VWF_A.
[Graphical view]
PfamiPF00041. fn3. 2 hits.
PF00092. VWA. 1 hit.
[Graphical view]
SMARTiSM00060. FN3. 2 hits.
SM00327. VWA. 1 hit.
[Graphical view]
SUPFAMiSSF49265. SSF49265. 2 hits.
SSF53300. SSF53300. 1 hit.
PROSITEiPS50853. FN3. 2 hits.
PS50234. VWFA. 1 hit.
[Graphical view]
ProtoNetiSearch...

Publicationsi

« Hide 'large scale' publications
  1. "Complete sequencing and characterization of 21,243 full-length human cDNAs."
    Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.
    , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.
    Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1 AND 2).
    Tissue: Placenta and Prostate.
  2. "The DNA sequence and biological annotation of human chromosome 1."
    Gregory S.G., Barlow K.F., McLay K.E., Kaul R., Swarbreck D., Dunham A., Scott C.E., Howe K.L., Woodfine K., Spencer C.C.A., Jones M.C., Gillson C., Searle S., Zhou Y., Kokocinski F., McDonald L., Evans R., Phillips K.
    , Atkinson A., Cooper R., Jones C., Hall R.E., Andrews T.D., Lloyd C., Ainscough R., Almeida J.P., Ambrose K.D., Anderson F., Andrew R.W., Ashwell R.I.S., Aubin K., Babbage A.K., Bagguley C.L., Bailey J., Beasley H., Bethel G., Bird C.P., Bray-Allen S., Brown J.Y., Brown A.J., Buckley D., Burton J., Bye J., Carder C., Chapman J.C., Clark S.Y., Clarke G., Clee C., Cobley V., Collier R.E., Corby N., Coville G.J., Davies J., Deadman R., Dunn M., Earthrowl M., Ellington A.G., Errington H., Frankish A., Frankland J., French L., Garner P., Garnett J., Gay L., Ghori M.R.J., Gibson R., Gilby L.M., Gillett W., Glithero R.J., Grafham D.V., Griffiths C., Griffiths-Jones S., Grocock R., Hammond S., Harrison E.S.I., Hart E., Haugen E., Heath P.D., Holmes S., Holt K., Howden P.J., Hunt A.R., Hunt S.E., Hunter G., Isherwood J., James R., Johnson C., Johnson D., Joy A., Kay M., Kershaw J.K., Kibukawa M., Kimberley A.M., King A., Knights A.J., Lad H., Laird G., Lawlor S., Leongamornlert D.A., Lloyd D.M., Loveland J., Lovell J., Lush M.J., Lyne R., Martin S., Mashreghi-Mohammadi M., Matthews L., Matthews N.S.W., McLaren S., Milne S., Mistry S., Moore M.J.F., Nickerson T., O'Dell C.N., Oliver K., Palmeiri A., Palmer S.A., Parker A., Patel D., Pearce A.V., Peck A.I., Pelan S., Phelps K., Phillimore B.J., Plumb R., Rajan J., Raymond C., Rouse G., Saenphimmachak C., Sehra H.K., Sheridan E., Shownkeen R., Sims S., Skuce C.D., Smith M., Steward C., Subramanian S., Sycamore N., Tracey A., Tromans A., Van Helmond Z., Wall M., Wallis J.M., White S., Whitehead S.L., Wilkinson J.E., Willey D.L., Williams H., Wilming L., Wray P.W., Wu Z., Coulson A., Vaudin M., Sulston J.E., Durbin R.M., Hubbard T., Wooster R., Dunham I., Carter N.P., McVean G., Ross M.T., Harrow J., Olson M.V., Beck S., Rogers J., Bentley D.R.
    Nature 441:315-321(2006) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  3. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  4. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
    The MGC Project Team
    Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
    Tissue: Pancreas and Placenta.
  5. Cited for: PHOSPHORYLATION AT SER-74; SER-80; TYR-83 AND SER-93.

Entry informationi

Entry nameiVWA1_HUMAN
AccessioniPrimary (citable) accession number: Q6PCB0
Secondary accession number(s): A8K692
, B3KUA1, E9PB53, Q7L5D7, Q9H6J5
Entry historyi
Integrated into UniProtKB/Swiss-Prot: October 23, 2007
Last sequence update: July 5, 2004
Last modified: June 8, 2016
This is version 113 of the entry and version 1 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

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 1
    Human chromosome 1: entries, gene names and cross-references to MIM
  2. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  3. 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.