Gene Gene information from NCBI Gene database.
Entrez ID 4013
Gene name Von Willebrand factor A domain containing 5A
Gene symbol VWA5A
Synonyms (NCBI Gene)
BCSC-1BCSC1LOH11CR2A
Chromosome 11
Chromosome location 11q24.2
miRNA miRNA information provided by mirtarbase database.
95
miRTarBase ID miRNA Experiments Reference
MIRT572423 hsa-miR-6761-3p PAR-CLIP 20371350
MIRT572421 hsa-miR-5193 PAR-CLIP 20371350
MIRT572420 hsa-miR-660-3p PAR-CLIP 20371350
MIRT572419 hsa-miR-1291 PAR-CLIP 20371350
MIRT572418 hsa-miR-6775-3p PAR-CLIP 20371350
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
2
GO ID Ontology Definition Evidence Reference
GO:0005515 Function Protein binding IPI 32296183
GO:0005654 Component Nucleoplasm IDA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
602929 6658 ENSG00000110002
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
O00534
Protein 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)
Protein function May play a role in tumorigenesis as a tumor suppressor. Altered expression of this protein and disruption of the molecular pathway it is involved in, may contribute directly to or modify tumorigenesis.
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF08487 VIT 17 129 Vault protein inter-alpha-trypsin domain Family
PF13768 VWA_3 280 443 von Willebrand factor type A domain Domain
Tissue specificity TISSUE SPECIFICITY: Expressed at low level in many tissues. Not expressed in 80% of tumor cell lines tested. {ECO:0000269|PubMed:14504409}.
Sequence
MVHFCGLLTLHREPVPLKSISVSVNIYEFVAGVSATLNYENEEKVPLEAFFVFPMDEDSA
VYSFEALVDGKKIVAELQDKMKARTNYEKAISQGHQAFLLEGDSSSRDVFSCNVGNLQPG
SKAAVTLKY
VQELPLEADGALRFVLPAVLNPRYQFSGSSKDSCLNVKTPIVPVEDLPYTL
SMVATIDSQHGIEKVQSNCPLSPTEYLGEDKTSAQVSLAAGHKFDRDVELLIYYNEVHTP
SVVLEMGMPNMKPGHLMGDPSAMVSFYPNIPEDQPSNTCGEFIFLMDRSGSMQSPMSSQD
TSQLRIQAAKETLILLLKSLPIGCYFNIYGFGSSYEACFPESVKYTQQTMEEALGRVKLM
QADLGGTEILAPLQNIYRGPSIPGHPLQLFVFTDGEVTDTFSVIKEVRINRQKHRCFSFG
IGEGTSTSLIKGIARASGGTSEF
ITGKDRMQSKALRTLKRSLQPVVEDVSLSWHLPPGLS
AKMLSPEQTVIFRGQRLISYAQLTGRMPAAETTGEVCLKYTLQGKTFEDKVTFPLQPKPD
VNLTIHRLAAKSLLQTKDMGLRETPASDKKDALNLSLESGVISSFTAFIAINKELNKPVQ
GPLAHRDVPRPILLGASAPLKIKCQSGFRKALHSDRPPSASQPRGELMCYKAKTFQMDDY
SLCGLISHKDQHSPGFGENHLVQLIYHQNANGSWDLNEDLAKILGMSLEEIMAAQPAELV
DSSGWATILAVIWLHSNGKDLKCEWELLERKAVAWMRAHAGSTMPSVVKAAITFLKSSVD
PAIFAF
Sequence length 786
Interactions View interactions
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
1
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Ovarian serous cystadenocarcinoma Uncertain significance rs139773809 RCV005932558
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Breast Neoplasms Associate 21803008
Breast Neoplasms Inhibit 38291227
Lymphatic Metastasis Associate 21803008, 38291227
Neoplasm Metastasis Inhibit 38291227
Neoplasms Associate 21803008
Schizophrenia Associate 34716291