• Gene id: 64856

Gene Summary

• Gene Symbol: VWA1   Gene   UCSC   Ensembl
• Aliases: WARP
• Gene name: von Willebrand factor A domain containing 1
• Alternate names: von Willebrand factor A domain-containing protein 1, von Willebrand factor A domain-related protein,
• Gene location: 1p36.33 (1435689: 1442881)     Exons: 3     NC_000001.11
• Gene summary(Entrez): VWA1 belongs to the von Willebrand factor (VWF; MIM 613160) A (VWFA) domain superfamily of extracellular matrix proteins and appears to play a role in cartilage structure and function (Fitzgerald et al., 2002 [PubMed 12062410]).[supplied by OMIM, Nov 2010
• OMIM: 616561

Protein Summary

• Protein general information: Q6PCB0  
  • Name: von Willebrand factor A domain containing protein 1
  • Length: 445  
  • Mass: 46804
• Sequence:

  MLPWTALGLALSLRLALARSGAERGPPASAPRGDLMFLLDSSASVSHYEFSRVREFVGQLVAPLPLGTGALRASL
  VHVGSRPYTEFPFGQHSSGEAAQDAVRASAQRMGDTHTGLALVYAKEQLFAEASGARPGVPKVLVWVTDGGSSDP
  VGPPMQELKDLGVTVFIVSTGRGNFLELSAAASAPAEKHLHFVDVDDLHIIVQELRGSILDAMRPQQLHATEITS
  SGFRLAWPPLLTADSGYYVLELVPSAQPGAARRQQLPGNATDWIWAGLDPDTDYDVALVPESNVRLLRPQILRVR
  TRPGEAGPGASGPESGAGPAPTQLAALPAPEEAGPERIVISHARPRSLRVSWAPALGSAAALGYHVQFGPLRGGE
  AQRVEVPAGRNCTTLQGLAPGTAYLVTVTAAFRSGRESALSAKACTPDGPRPRPRPVPRAPTPGTASREP

• Structural information:
  • Protein Domains: (34..21-)
    (/note="VWFA-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00219-)
    (214..30-)
    1 (/note="Fibronectin-type-III)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00316-)
    (334..42-)
    2 (/note="Fibronectin-type-III)
    (/evidence="ECO:000025-)
  • Interpro: IPR003961  IPR036116  IPR013783  IPR002035  IPR036465  
  • Prosite: PS50853 PS50234
  • CDD: cd00063
  • STRING: ENSP00000417185
• Other Databases: GeneCards:  VWA1  Malacards:  VWA1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0062023	collagen-containing extracellular matrix	IBA	cellular component
GO:0005615	extracellular space	IBA	cellular component
GO:0001867	complement activation, lectin pathway	IBA	biological process
GO:0005614	interstitial matrix	IBA	cellular component
GO:0003429	growth plate cartilage chondrocyte morphogenesis	IBA	biological process
GO:0005604	basement membrane	IEA	cellular component
GO:0005576	extracellular region	IEA	cellular component
GO:0044267	cellular protein metabolic process	TAS	biological process
GO:0005788	endoplasmic reticulum lumen	TAS	cellular component
GO:0043687	post-translational protein modification	TAS	biological process
GO:0031012	extracellular matrix	IEA	cellular component
GO:0005604	basement membrane	IEA	cellular component
GO:0005576	extracellular region	IEA	cellular component
GO:0048266	behavioral response to pain	IEA	biological process
GO:0042802	identical protein binding	IEA	molecular function
GO:0030198	extracellular matrix organization	IEA	biological process
GO:0005614	interstitial matrix	IEA	cellular component
GO:0005201	extracellular matrix structural constituent	RCA	molecular function
GO:0062023	collagen-containing extracellular matrix	HDA	cellular component
GO:0062023	collagen-containing extracellular matrix	HDA	cellular component
GO:0005201	extracellular matrix structural constituent	RCA	molecular function
GO:0005201	extracellular matrix structural constituent	RCA	molecular function
GO:0005201	extracellular matrix structural constituent	RCA	molecular function
GO:0062023	collagen-containing extracellular matrix	HDA	cellular component
GO:0062023	collagen-containing extracellular matrix	HDA	cellular component
GO:0005604	basement membrane	IEA	cellular component
GO:0070062	extracellular exosome	HDA	cellular component
GO:0005615	extracellular space	HDA	cellular component
GO:0070062	extracellular exosome	HDA	cellular component

Diseases

Associated diseases	References
Cryptorchidism	MIK: 28606200

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq