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

Gene ID: 64856, updated on 5-Mar-2024

Summary

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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; AllianceGenome:HGNC:30910
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; HMNR7; HMNMYO
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
mouse all
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Genomic context

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Location:
1p36.33
Exon count:
3
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (1435690..1442882)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (870050..877242)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (1371070..1378262)

Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:1360776-1361641 Neighboring gene transmembrane protein 88B Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:1367749-1368492 Neighboring gene uncharacterized LOC107985729 Neighboring gene long intergenic non-protein coding RNA 1770 Neighboring gene Sharpr-MPRA regulatory region 8235 Neighboring gene ReSE screen-validated silencer GRCh37_chr1:1370998-1371187 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:1389959-1390458 Neighboring gene ATPase family AAA domain containing 3C Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:1397006-1397780 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 75 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:1409130-1409976 Neighboring gene ATPase family AAA domain containing 3B Neighboring gene MPRA-validated peak11 silencer Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:1443749-1444392 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:1444393-1445034

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • 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

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Related articles in PubMed

  1. Bi-allelic truncating mutations in VWA1 cause neuromyopathy. Deschauer M, et al. Brain, 2021 Mar 3. PMID 33459760
  2. Immunocytochemical distribution of WARP (von Willebrand A domain-related protein) in the inner ear. Duong T, et al. Brain Res, 2011 Jan 7. PMID 20971096, Free PMC Article
  3. Conformational stability and domain unfolding of the Von Willebrand factor A domains. Auton M, et al. J Mol Biol, 2007 Feb 23. PMID 17187823
  4. Von Willebrand factor-A1 domain binds platelet glycoprotein Ibα in multiple states with distinctive force-dependent dissociation kinetics. Ju L, et al. Thromb Res, 2015 Sep. PMID 26213126, Free PMC Article
  5. The matrilin-3 VWA1 domain modulates interleukin-6 release from primary human chondrocytes. Klatt AR, et al. Osteoarthritis Cartilage, 2013 Jun. PMID 23523902

See all (22) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Bi-allelic truncating mutations in VWA1 cause neuromyopathy.
    Title: Bi-allelic truncating mutations in VWA1 cause neuromyopathy.
  2. Our results reveal the molecular mechanism of collagen-regulated, A1-mediated platelet adhesion enhancement.
    Title: Von Willebrand factor-A1 domain binds platelet glycoprotein Ibα in multiple states with distinctive force-dependent dissociation kinetics.
  3. The VWA1 domain of matrilin-3 is primarily responsible for the induction of IL-6 release from primary human chondrocytes.
    Title: The matrilin-3 VWA1 domain modulates interleukin-6 release from primary human chondrocytes.
  4. WARP is ideally placed to function as an adapter protein in the cartilage pericellular matrix.
    Title: WARP interacts with collagen VI-containing microfibrils in the pericellular matrix of human chondrocytes.
  5. The distinct localization of WARP in the human and mouse inner ear blood vessels suggests an important role maintaining the integrity of the vasculature.
    Title: Immunocytochemical distribution of WARP (von Willebrand A domain-related protein) in the inner ear.
  6. Urea was used as a surrogate for shear to study denaturation of the individual VWF recombinant A domains, A1, A2, and A3, and the domain triplet, A1-A2-A3.
    Title: Conformational stability and domain unfolding of the Von Willebrand factor A domains.
  7. WARP forms macromolecular structures that interact with perlecan to contribute to the assembly and/or maintenance of "permanent" cartilage structures during development and in mature cartilages
    Title: WARP is a novel multimeric component of the chondrocyte pericellular matrix that interacts with perlecan.
  8. Evolutionary relationship between von Willebrand factor A domain-related protein (WARP), and the fibril-associated collagen with interrupted triple helix (FACIT) and FACIT-like subfamilies of collagens.
    Title: Is there an evolutionary relationship between WARP (von Willebrand factor A-domain-related protein) and the FACIT and FACIT-like collagens?
Submit: New GeneRIF Correction

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description Tests
Neuronopathy, distal hereditary motor, autosomal recessive 7
MedGen: C5543119 OMIM: 619216 GeneReviews: Not available
not available

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • FLJ22215, DKFZp761O051

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables extracellular matrix structural constituent RCA
inferred from Reviewed Computational Analysis
more info
 PubMed 
enables microfibril binding IEA
Inferred from Electronic Annotation
more info
  
enables protein homodimerization activity IEA
Inferred from Electronic Annotation
more info
  
Process Evidence Code Pubs
involved_in behavioral response to pain IEA
Inferred from Electronic Annotation
more info
  
involved_in extracellular matrix organization IEA
Inferred from Electronic Annotation
more info
  
involved_in protein homooligomerization IEA
Inferred from Electronic Annotation
more info
  
Component Evidence Code Pubs
located_in basement membrane IEA
Inferred from Electronic Annotation
more info
  
located_in collagen-containing extracellular matrix HDA PubMed 
is_active_in collagen-containing extracellular matrix IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in endoplasmic reticulum lumen TAS
Traceable Author Statement
more info
  
located_in extracellular exosome HDA PubMed 
located_in extracellular space HDA PubMed 
located_in interstitial matrix IEA
Inferred from Electronic Annotation
more info
  

General protein information

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

NCBI Reference Sequences (RefSeq)

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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_022834.5 → NP_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
    A8K692, B3KUA1, E9PB53, Q6PCB0, Q7L5D7, Q9H6J5
    Related
    ENSP00000417185.1, ENST00000476993.2
    Conserved Domains (2) summary
    pfam00041
    Location:335 → 405
    fn3; Fibronectin type III domain
    cl00057
    Location:34 → 194
    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_199121.3 → NP_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: GCF_000001405.40-RS_2023_10

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000001.11 Reference GRCh38.p14 Primary Assembly

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

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060925.1 Alternate T2T-CHM13v2.0

    Range
    870050..877242
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q6PCB0.1 GenPept UniProtKB/Swiss-Prot:Q6PCB0

Gene LinkOut

The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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