• Gene id: 4013

Gene Summary

• Gene Symbol: VWA5A   Gene   UCSC   Ensembl
• Aliases: BCSC-1, BCSC1, LOH11CR2A
• Gene name: von Willebrand factor A domain containing 5A
• Alternate names: von Willebrand factor A domain-containing protein 5A, breast cancer suppressor candidate 1, loss of heterozygosity 11 chromosomal region 2 gene A protein, loss of heterozygosity, 11, chromosomal region 2, gene A, ortholog of mouse AW551984,
• Gene location: 11q24.2 (124115403: 124147720)     Exons: 19     NC_000011.10
• OMIM: 602929

Protein Summary

• Protein general information: O00534  
  • Name: von Willebrand factor A domain containing protein 5A (Breast cancer suppressor candidate 1) (BCSC 1) (Loss of heterozygosity 11 chromosomal region 2 gene A protein)
  • Length: 786  
  • Mass: 86489
  • Tissue specificity: Expressed at low level in many tissues. Not expressed in 80% of tumor cell lines tested. {ECO
• Sequence:

  MVHFCGLLTLHREPVPLKSISVSVNIYEFVAGVSATLNYENEEKVPLEAFFVFPMDEDSAVYSFEALVDGKKIVA
  ELQDKMKARTNYEKAISQGHQAFLLEGDSSSRDVFSCNVGNLQPGSKAAVTLKYVQELPLEADGALRFVLPAVLN
  PRYQFSGSSKDSCLNVKTPIVPVEDLPYTLSMVATIDSQHGIEKVQSNCPLSPTEYLGEDKTSAQVSLAAGHKFD
  RDVELLIYYNEVHTPSVVLEMGMPNMKPGHLMGDPSAMVSFYPNIPEDQPSNTCGEFIFLMDRSGSMQSPMSSQD
  TSQLRIQAAKETLILLLKSLPIGCYFNIYGFGSSYEACFPESVKYTQQTMEEALGRVKLMQADLGGTEILAPLQN
  IYRGPSIPGHPLQLFVFTDGEVTDTFSVIKEVRINRQKHRCFSFGIGEGTSTSLIKGIARASGGTSEFITGKDRM
  QSKALRTLKRSLQPVVEDVSLSWHLPPGLSAKMLSPEQTVIFRGQRLISYAQLTGRMPAAETTGEVCLKYTLQGK
  TFEDKVTFPLQPKPDVNLTIHRLAAKSLLQTKDMGLRETPASDKKDALNLSLESGVISSFTAFIAINKELNKPVQ
  GPLAHRDVPRPILLGASAPLKIKCQSGFRKALHSDRPPSASQPRGELMCYKAKTFQMDDYSLCGLISHKDQHSPG
  FGENHLVQLIYHQNANGSWDLNEDLAKILGMSLEEIMAAQPAELVDSSGWATILAVIWLHSNGKDLKCEWELLER
  KAVAWMRAHAGSTMPSVVKAAITFLKSSVDPAIFAF

• Structural information:
  • Protein Domains: (1..13-)
    (/note="VIT-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00801-)
    (281..46-)
    (/note="VWFA-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00219"-)
  • Interpro: IPR013694  IPR002035  IPR036465  
  • Prosite: PS51468 PS50234
  • STRING: ENSP00000407726
• Other Databases: GeneCards:  VWA5A  Malacards:  VWA5A

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005654	nucleoplasm	IDA	cellular component

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881