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] See more...

Aliases for VWA1 Gene

Aliases for VWA1 Gene

  • Von Willebrand Factor A Domain Containing 1 2 3 5
  • Von Willebrand Factor A Domain-Containing Protein 1 3 4
  • Von Willebrand Factor A Domain-Related Protein 3
  • WARP 3

External Ids for VWA1 Gene

Previous GeneCards Identifiers for VWA1 Gene

  • GC01P001457
  • GC01P001360
  • GC01P000645
  • GC01P001370

Summaries for VWA1 Gene

Entrez Gene Summary for VWA1 Gene

  • 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]

GeneCards Summary for VWA1 Gene

VWA1 (Von Willebrand Factor A Domain Containing 1) is a Protein Coding gene. Diseases associated with VWA1 include Ceroid Lipofuscinosis, Neuronal, 8, Northern Epilepsy Variant and Epilepsy, Familial Temporal Lobe, 6. Gene Ontology (GO) annotations related to this gene include identical protein binding. An important paralog of this gene is COL12A1.

UniProtKB/Swiss-Prot Summary for VWA1 Gene

Additional gene information for VWA1 Gene

No data available for CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for VWA1 Gene

Genomics for VWA1 Gene

GeneHancer (GH) Regulatory Elements for VWA1 Gene

Promoters and enhancers for VWA1 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around VWA1 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for VWA1

Top Transcription factor binding sites by QIAGEN in the VWA1 gene promoter:
  • AML1a
  • ARP-1
  • ATF-2
  • Bach1
  • C/EBPalpha
  • CRE-BP1
  • GR-beta
  • HEN1
  • Pax-5
  • XBP-1

Genomic Locations for VWA1 Gene

Genomic Locations for VWA1 Gene
chr1:1,434,861-1,442,882
(GRCh38/hg38)
Size:
8,022 bases
Orientation:
Plus strand
chr1:1,370,241-1,378,262
(GRCh37/hg19)
Size:
8,022 bases
Orientation:
Plus strand

Genomic View for VWA1 Gene

Genes around VWA1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
VWA1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for VWA1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for VWA1 Gene

Proteins for VWA1 Gene

  • Protein details for VWA1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q6PCB0-VWA1_HUMAN
    Recommended name:
    von Willebrand factor A domain-containing protein 1
    Protein Accession:
    Q6PCB0
    Secondary Accessions:
    • A8K692
    • B3KUA1
    • E9PB53
    • Q7L5D7
    • Q9H6J5

    Protein attributes for VWA1 Gene

    Size:
    445 amino acids
    Molecular mass:
    46804 Da
    Quaternary structure:
    • Homodimer or homomultimer; disulfide-linked. Interacts with HSPG2.

    Alternative splice isoforms for VWA1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for VWA1 Gene

Post-translational modifications for VWA1 Gene

Other Protein References for VWA1 Gene

No data available for DME Specific Peptides for VWA1 Gene

Domains & Families for VWA1 Gene

Gene Families for VWA1 Gene

HGNC:
Human Protein Atlas (HPA):
  • Predicted intracellular proteins
  • Predicted secreted proteins

Protein Domains for VWA1 Gene

Blocks:
  • Von Willebrand factor type A domain signature
InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for VWA1 Gene

GenScript: Design optimal peptide antigens:
  • von Willebrand factor A domain-containing protein 1 (VWA1_HUMAN)
genes like me logo Genes that share domains with VWA1: view

No data available for Graphical View of Domain Structure and UniProtKB/Swiss-Prot for VWA1 Gene

Function for VWA1 Gene

Molecular function for VWA1 Gene

UniProtKB/Swiss-Prot Function:
Promotes matrix assembly.

Phenotypes From GWAS Catalog for VWA1 Gene

Gene Ontology (GO) - Molecular Function for VWA1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005201 extracellular matrix structural constituent RCA 25037231
GO:0005515 protein binding IEA --
GO:0042802 identical protein binding IEA --
genes like me logo Genes that share ontologies with VWA1: view
genes like me logo Genes that share phenotypes with VWA1: view

Animal Models for VWA1 Gene

MGI Knock Outs for VWA1:
  • Vwa1 Vwa1<tm1.1(KOMP)Vlcg>
  • Vwa1 Vwa1<tm1Jfba>

Animal Model Products

CRISPR Products

Clone Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for VWA1 Gene

Localization for VWA1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for VWA1 Gene

Secreted, extracellular space, extracellular matrix, basement membrane.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for VWA1 gene
Compartment Confidence
extracellular 4
endoplasmic reticulum 4
plasma membrane 3
cytoskeleton 2
mitochondrion 2
nucleus 2
cytosol 2
endosome 1
lysosome 1
golgi apparatus 1
peroxisome 0

Gene Ontology (GO) - Cellular Components for VWA1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region IEA --
GO:0005604 basement membrane IEA --
GO:0005614 interstitial matrix IEA --
GO:0005615 extracellular space IBA 21873635
GO:0005788 endoplasmic reticulum lumen TAS --
genes like me logo Genes that share ontologies with VWA1: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for VWA1 Gene

Pathways & Interactions for VWA1 Gene

PathCards logo

SuperPathways for VWA1 Gene

No Data Available

Gene Ontology (GO) - Biological Process for VWA1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003429 growth plate cartilage chondrocyte morphogenesis IBA 21873635
GO:0030198 extracellular matrix organization IEA --
GO:0043687 post-translational protein modification TAS --
GO:0044267 cellular protein metabolic process TAS --
GO:0048266 behavioral response to pain IEA --
genes like me logo Genes that share ontologies with VWA1: view

No data available for Pathways by source and SIGNOR curated interactions for VWA1 Gene

Drugs & Compounds for VWA1 Gene

No Compound Related Data Available

Transcripts for VWA1 Gene

mRNA/cDNA for VWA1 Gene

2 REFSEQ mRNAs :
11 NCBI additional mRNA sequence :
4 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for VWA1 Gene

ExUns: 1 ^ 2a · 2b · 2c ^ 3a · 3b · 3c
SP1: - -
SP2:
SP3: -

Relevant External Links for VWA1 Gene

GeneLoc Exon Structure for
VWA1

Expression for VWA1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for VWA1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for VWA1 Gene

This gene is overexpressed in Urinary Bladder (18.2), Urine (15.3), and Prostate (6.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for VWA1 Gene



Protein tissue co-expression partners for VWA1 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for VWA1

SOURCE GeneReport for Unigene cluster for VWA1 Gene:

Hs.449009

Evidence on tissue expression from TISSUES for VWA1 Gene

  • Pancreas(4.9)
  • Nervous system(3.7)
  • Lung(3.1)
  • Intestine(2.9)
genes like me logo Genes that share expression patterns with VWA1: view

No data available for mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for VWA1 Gene

Orthologs for VWA1 Gene

This gene was present in the common ancestor of chordates.

Orthologs for VWA1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia VWA1 31
  • 99 (a)
OneToOne
dog
(Canis familiaris)
Mammalia VWA1 31 30
  • 84.09 (n)
OneToOne
cow
(Bos Taurus)
Mammalia VWA1 31 30
  • 83.5 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Vwa1 17 31 30
  • 80.71 (n)
rat
(Rattus norvegicus)
Mammalia Vwa1 30
  • 80.29 (n)
oppossum
(Monodelphis domestica)
Mammalia VWA1 31
  • 51 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia VWA1 31
  • 1 (a)
OneToOne
chicken
(Gallus gallus)
Aves VWA1 31 30
  • 62.4 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia VWA1 31
  • 55 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC100485693 30
  • 56.23 (n)
zebrafish
(Danio rerio)
Actinopterygii LOC568379 30
  • 50.67 (n)
vwa1 31
  • 30 (a)
OneToOne
sea squirt
(Ciona savignyi)
Ascidiacea CSA.10963 31
  • 8 (a)
OneToMany
Species where no ortholog for VWA1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for VWA1 Gene

ENSEMBL:
Gene Tree for VWA1 (if available)
TreeFam:
Gene Tree for VWA1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for VWA1: view image

Paralogs for VWA1 Gene

(1) SIMAP similar genes for VWA1 Gene using alignment to 3 proteins:

  • VWA1_HUMAN
  • J3QLP3_HUMAN
  • J3QRR0_HUMAN
genes like me logo Genes that share paralogs with VWA1: view

Variants for VWA1 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for VWA1 Gene

SNP ID Clinical significance and condition Chr 01 pos Variation AA Info Type
722916 Likely Benign: not provided 1,437,061(+) G/T MISSENSE_VARIANT,INTRON_VARIANT
775488 Benign: not provided 1,439,682(+) C/G SYNONYMOUS_VARIANT,THREE_PRIME_UTR_VARIANT
781924 Benign: not provided 1,437,393(+) C/T MISSENSE_VARIANT,SYNONYMOUS_VARIANT
781925 Benign: not provided 1,439,382(+) G/A SYNONYMOUS_VARIANT,THREE_PRIME_UTR_VARIANT

Additional dbSNP identifiers (rs#s) for VWA1 Gene

Structural Variations from Database of Genomic Variants (DGV) for VWA1 Gene

Variant ID Type Subtype PubMed ID
esv2758913 CNV gain+loss 17122850
esv3577672 CNV loss 25503493
nsv1009541 CNV gain 25217958
nsv1011818 CNV gain 25217958
nsv10161 CNV gain+loss 18304495
nsv482937 CNV loss 15286789
nsv545000 CNV loss 21841781
nsv545001 CNV loss 21841781
nsv950452 CNV deletion 24416366

Variation tolerance for VWA1 Gene

Residual Variation Intolerance Score: 70.1% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.21; 39.89% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for VWA1 Gene

Human Gene Mutation Database (HGMD)
VWA1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
VWA1

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for VWA1 Gene

Disorders for VWA1 Gene

MalaCards: The human disease database

(8) MalaCards diseases for VWA1 Gene - From: DISEASES

Disorder Aliases PubMed IDs
ceroid lipofuscinosis, neuronal, 8, northern epilepsy variant
  • ceroid lipofuscinosis, neuronal, 8
epilepsy, familial temporal lobe, 6
  • etl6
alexia
  • acquired dyslexia
sexual masochism
  • masochism
speech and communication disorders
  • communication disorder
- elite association - COSMIC cancer census association via MalaCards
Search VWA1 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for VWA1

genes like me logo Genes that share disorders with VWA1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for VWA1 Gene

Publications for VWA1 Gene

  1. Is there an evolutionary relationship between WARP (von Willebrand factor A-domain-related protein) and the FACIT and FACIT-like collagens? (PMID: 14527666) Fitzgerald J … Bateman JF (FEBS letters 2003) 2 3 23 54
  2. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 54
  3. WARP is a new member of the von Willebrand factor A-domain superfamily of extracellular matrix proteins. (PMID: 12062410) Fitzgerald J … Bateman JF (FEBS letters 2002) 2 3 54
  4. Comprehensive proteomic characterization of stem cell-derived extracellular matrices. (PMID: 28327460) Ragelle H … Anderson DG (Biomaterials 2017) 3 54
  5. Architecture of the human interactome defines protein communities and disease networks. (PMID: 28514442) Huttlin EL … Harper JW (Nature 2017) 3 54

Products for VWA1 Gene

Sources for VWA1 Gene