Format

Send to:

Choose Destination

VWA1 von Willebrand factor A domain containing 1 [ Homo sapiens (human) ]

Gene ID: 64856, updated on 18-Aug-2020

Summary

Official Symbol
VWA1provided by HGNC
Official Full Name
von Willebrand factor A domain containing 1provided by HGNC
Primary source
HGNC:HGNC:30910
See related
Ensembl:ENSG00000179403 MIM:611901
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
WARP
Summary
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]
Expression
Broad expression in prostate (RPKM 28.1), placenta (RPKM 11.5) and 23 other tissues See more
Orthologs

Genomic context

See VWA1 in Genome Data Viewer
Location:
1p36.33
Exon count:
3
Annotation release Status Assembly Chr Location
109.20200815 current GRCh38.p13 (GCF_000001405.39) 1 NC_000001.11 (1435690..1442882)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (1370903..1378262)

Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene transmembrane protein 88B Neighboring gene uncharacterized LOC107985729 Neighboring gene long intergenic non-protein coding RNA 1770 Neighboring gene ATPase family AAA domain containing 3C Neighboring gene ATPase family AAA domain containing 3B

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?

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ22215, DKFZp761O051

Gene Ontology Provided by GOA

Function Evidence Code Pubs
extracellular matrix structural constituent RCA
inferred from Reviewed Computational Analysis
more info
PubMed 
identical protein binding IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
behavioral response to pain IEA
Inferred from Electronic Annotation
more info
 
cellular protein metabolic process TAS
Traceable Author Statement
more info
 
extracellular matrix organization IEA
Inferred from Electronic Annotation
more info
 
post-translational protein modification TAS
Traceable Author Statement
more info
 

General protein information

Preferred Names
von Willebrand factor A domain-containing protein 1
Names
von Willebrand factor A domain-related protein

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_022834.5NP_073745.2  von Willebrand factor A domain-containing protein 1 isoform 1 precursor

    See identical proteins and their annotated locations for NP_073745.2

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
    Source sequence(s)
    AL137722, BC059409, BG370349, DB452905
    Consensus CDS
    CCDS27.1
    UniProtKB/Swiss-Prot
    Q6PCB0
    Related
    ENSP00000417185.1, ENST00000476993.2
    Conserved Domains (2) summary
    pfam00041
    Location:335405
    fn3; Fibronectin type III domain
    cl00057
    Location:34194
    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 ...
  2. NM_199121.3NP_954572.2  von Willebrand factor A domain-containing protein 1 isoform 2 precursor

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) uses an alternate splice site that causes a frameshift in the central coding region, compared to variant 1. The encoded isoform (2) has a significantly shorter and distinct C-terminus, compared to isoform 1.
    Source sequence(s)
    AK096773, AL137722, BG370349, DB452905
    Consensus CDS
    CCDS28.2
    UniProtKB/Swiss-Prot
    Q6PCB0
    Related
    ENSP00000423404.1, ENST00000338660.5

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20200815

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000001.11 Reference GRCh38.p13 Primary Assembly

    Range
    1435690..1442882
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Support Center