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VWA5A von Willebrand factor A domain containing 5A [ Homo sapiens (human) ]

Gene ID: 4013, updated on 13-Mar-2020

Summary

Official Symbol
VWA5Aprovided by HGNC
Official Full Name
von Willebrand factor A domain containing 5Aprovided by HGNC
Primary source
HGNC:HGNC:6658
See related
Ensembl:ENSG00000110002 MIM:602929
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
BCSC1; BCSC-1; LOH11CR2A
Expression
Ubiquitous expression in colon (RPKM 15.2), gall bladder (RPKM 14.6) and 24 other tissues See more
Orthologs

Genomic context

See VWA5A in Genome Data Viewer
Location:
11q24.2
Exon count:
19
Annotation release Status Assembly Chr Location
109.20200228 current GRCh38.p13 (GCF_000001405.39) 11 NC_000011.10 (124115404..124147721)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (123986111..124017619)

Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene olfactory receptor family 10 subfamily D member 4 pseudogene Neighboring gene olfactory receptor family 10 subfamily N member 1 pseudogene Neighboring gene olfactory receptor family 10 subfamily D member 1 pseudogene Neighboring gene olfactory receptor family 10 subfamily D member 3 (putative)

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

NHGRI GWAS Catalog

Description
A genome-wide association study of aging.
NHGRI GWA Catalog
Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.
NHGRI GWA Catalog

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Component Evidence Code Pubs
nucleoplasm IDA
Inferred from Direct Assay
more info
 

General protein information

Preferred Names
von Willebrand factor A domain-containing protein 5A
Names
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

NCBI Reference Sequences (RefSeq)

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

  1. NM_001130142.2NP_001123614.1  von Willebrand factor A domain-containing protein 5A isoform 1

    See identical proteins and their annotated locations for NP_001123614.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (3) represents the longest transcript and encodes the longer isoform (1).
    Source sequence(s)
    AP000818, AY366508, BM990294
    Consensus CDS
    CCDS8444.1
    UniProtKB/Swiss-Prot
    O00534
    UniProtKB/TrEMBL
    A0A024R3H3
    Related
    ENSP00000407726.2, ENST00000456829.7
    Conserved Domains (3) summary
    smart00609
    Location:1131
    VIT; Vault protein Inter-alpha-Trypsin domain
    cd01461
    Location:278456
    vWA_interalpha_trypsin_inhibitor; vWA_interalpha trypsin inhibitor (ITI): ITI is a glycoprotein composed of three polypeptides- two heavy chains and one light chain (bikunin). Bikunin confers the protease-inhibitor function while the heavy chains are involved in rendering stability to ...
    TIGR03788
    Location:19609
    marine_srt_targ; marine proteobacterial sortase target protein
  2. NM_014622.4NP_055437.2  von Willebrand factor A domain-containing protein 5A isoform 1

    See identical proteins and their annotated locations for NP_055437.2

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) lacks an internal exon in the 5' UTR, as compared to variant 3. Both variants 1 and 3 encode the same isoform 1.
    Source sequence(s)
    AF002672, AY366505
    Consensus CDS
    CCDS8444.1
    UniProtKB/Swiss-Prot
    O00534
    UniProtKB/TrEMBL
    A0A024R3H3
    Related
    ENSP00000376504.1, ENST00000392748.5
    Conserved Domains (3) summary
    smart00609
    Location:1131
    VIT; Vault protein Inter-alpha-Trypsin domain
    cd01461
    Location:278456
    vWA_interalpha_trypsin_inhibitor; vWA_interalpha trypsin inhibitor (ITI): ITI is a glycoprotein composed of three polypeptides- two heavy chains and one light chain (bikunin). Bikunin confers the protease-inhibitor function while the heavy chains are involved in rendering stability to ...
    TIGR03788
    Location:19609
    marine_srt_targ; marine proteobacterial sortase target protein
  3. NM_198315.2NP_938057.1  von Willebrand factor A domain-containing protein 5A isoform 2

    See identical proteins and their annotated locations for NP_938057.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) lacks multiple 3' exons, but has an alternate 3' sequence, as compared to variant 3. The resulting isoform (2) has a shorter and different C-terminus, as compared to isoform 1.
    Source sequence(s)
    AY366503, BC001234
    Consensus CDS
    CCDS8445.1
    UniProtKB/Swiss-Prot
    O00534
    Related
    ENSP00000355070.5, ENST00000361352.9
    Conserved Domains (2) summary
    smart00609
    Location:1131
    VIT; Vault protein Inter-alpha-Trypsin domain
    cl00057
    Location:278408
    vWFA; Von Willebrand factor type A (vWA) domain was originally found in the blood coagulation protein von Willebrand factor (vWF). Typically, the vWA domain is made up of approximately 200 amino acid residues folded into a classic a/b para-rossmann type of ...

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000011.10 Reference GRCh38.p13 Primary Assembly

    Range
    124115404..124147721
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011542828.2XP_011541130.1  von Willebrand factor A domain-containing protein 5A isoform X1

    Conserved Domains (3) summary
    smart00609
    Location:17147
    VIT; Vault protein Inter-alpha-Trypsin domain
    cd01461
    Location:294472
    vWA_interalpha_trypsin_inhibitor; vWA_interalpha trypsin inhibitor (ITI): ITI is a glycoprotein composed of three polypeptides- two heavy chains and one light chain (bikunin). Bikunin confers the protease-inhibitor function while the heavy chains are involved in rendering stability to ...
    TIGR03788
    Location:35625
    marine_srt_targ; marine proteobacterial sortase target protein
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