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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
  • 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. GO annotations related to this gene include identical protein binding.

UniProtKB/Swiss-Prot for VWA1 Gene

  • Promotes matrix assembly.

No data available for CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for VWA1 Gene

Genomics for VWA1 Gene

Regulatory Elements for VWA1 Gene

Enhancers for VWA1 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH01G001461 1.2 Ensembl ENCODE 12.7 +27.5 27463 1.4 HDGF ATF1 PKNOX1 ARID4B SIN3A DMAP1 YY1 TCF12 ZNF121 ELK1 LINC01770 VWA1 ANKRD65 MTCO1P12 LOC105378585 SLC35E2 ATAD3C GC01P001458 ATAD3B
GH01G001428 1.8 FANTOM5 ENCODE dbSUPER 8.2 -2.6 -2558 8.2 HDGF FOXA2 AGO1 ZFP64 ARID4B SIN3A DMAP1 ZNF2 YY1 SLC30A9 ATAD3C LINC01770 ANKRD65 ATAD3B VWA1 LOC100129381 RNF223 TMEM88B DVL1 NADK
GH01G001510 1.2 ENCODE 11.8 +77.0 77046 2.6 CREB3L1 AGO1 DMAP1 YY1 SLC30A9 ZNF143 SP3 NFYC ZNF610 GLIS1 ATAD3B VWA1 LINC01770 ANKRD65 ATAD3C ATAD3A GC01P001494
GH01G001554 0.8 ENCODE 11.7 +120.3 120288 1.6 PKNOX1 AGO1 INSM2 KLF17 RFX5 GLIS2 FOS ZNF680 NR2F2 MYNN LINC01770 VWA1 SSU72 GC01M001538 PIR34017
GH01G001566 0.5 ENCODE 11 +133.0 132969 2.1 ZNF121 ZNF384 ZNF391 RBFOX2 SUPT5H LINC01770 VWA1 SSU72 MTND1P23 PIR50490 GC01P001570
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around VWA1 on UCSC Golden Path with GeneCards custom track

Promoters for VWA1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000000192 377 1001 HDGF ATF1 AGO1 ARID4B SIN3A ZNF48 GLIS2 KLF13 KDM4B SP3

Genomic Location for VWA1 Gene

Chromosome:
1
Start:
1,434,861 bp from pter
End:
1,442,882 bp from pter
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

Protein Domains for VWA1 Gene

Suggested Antigen Peptide Sequences for VWA1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

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

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

Function for VWA1 Gene

Molecular function for VWA1 Gene

UniProtKB/Swiss-Prot Function:
Promotes matrix assembly.

Gene Ontology (GO) - Molecular Function for VWA1 Gene

GO ID Qualified GO term Evidence PubMed IDs
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:

Animal Model Products

CRISPR Products

Inhibitory RNA Products

Clone Products

Flow Cytometry 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 5
plasma membrane 2
mitochondrion 1
peroxisome 1
endoplasmic reticulum 1
lysosome 1

Gene Ontology (GO) - Cellular Components for VWA1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005578 proteinaceous extracellular matrix IEA --
GO:0005604 basement membrane IEA --
GO:0005614 interstitial matrix IEA --
GO:0005615 extracellular space IDA 16502470
GO:0005788 endoplasmic reticulum lumen TAS --
genes like me logo Genes that share ontologies with VWA1: view

Pathways & Interactions for VWA1 Gene

No Data Available

Gene Ontology (GO) - Biological Process for VWA1 Gene

GO ID Qualified GO term Evidence PubMed IDs
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

Transcripts for VWA1 Gene

Unigene Clusters for VWA1 Gene

Von Willebrand factor A domain containing 1:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

Flow Cytometry 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
ECgene alternative splicing isoforms for
VWA1

Expression for VWA1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP 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, PaxDb, MaxQB, and MOPED for VWA1 Gene



Protein tissue co-expression partners for VWA1 Gene

NURSA nuclear receptor signaling pathways regulating expression of VWA1 Gene:

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

Primer Products

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 35
  • 99 (a)
OneToOne
dog
(Canis familiaris)
Mammalia VWA1 34 35
  • 84.09 (n)
cow
(Bos Taurus)
Mammalia VWA1 34 35
  • 83.5 (n)
mouse
(Mus musculus)
Mammalia Vwa1 34 16 35
  • 80.71 (n)
rat
(Rattus norvegicus)
Mammalia Vwa1 34
  • 80.29 (n)
oppossum
(Monodelphis domestica)
Mammalia VWA1 35
  • 51 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia VWA1 35
  • 1 (a)
OneToOne
chicken
(Gallus gallus)
Aves VWA1 34 35
  • 62.4 (n)
lizard
(Anolis carolinensis)
Reptilia VWA1 35
  • 55 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC100485693 34
  • 56.23 (n)
zebrafish
(Danio rerio)
Actinopterygii LOC568379 34
  • 50.67 (n)
vwa1 35
  • 30 (a)
OneToOne
sea squirt
(Ciona savignyi)
Ascidiacea CSA.10963 35
  • 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)

Paralogs for VWA1 Gene

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

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

No data available for Paralogs for VWA1 Gene

Variants for VWA1 Gene

Sequence variations from dbSNP and Humsavar for VWA1 Gene

SNP ID Clin Chr 01 pos Sequence Context AA Info Type
rs1000600492 -- 1,433,594(+) CTGAC(C/G)CGTCC intron-variant, upstream-variant-2KB
rs1000912194 -- 1,435,002(+) TAACA(A/G)GCCCA upstream-variant-2KB, reference, missense
rs1001010953 -- 1,441,581(+) CAGGT(A/G)GCCAG utr-variant-3-prime
rs1001027830 -- 1,434,759(+) GGGCC(A/G)GGGTA upstream-variant-2KB, reference, missense
rs1001092131 -- 1,440,411(+) TGGGC(A/T)TTCAG utr-variant-3-prime

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)

Relevant External Links for VWA1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
VWA1

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

Disorders for VWA1 Gene

Relevant External Links for VWA1

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
VWA1

No disorders were found for VWA1 Gene.

No data available for MalaCards , 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 J.F. (FEBS Lett. 2003) 2 3 22 64
  2. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4 64
  3. WARP is a new member of the von Willebrand factor A-domain superfamily of extracellular matrix proteins. (PMID: 12062410) Fitzgerald J. … Bateman J.F. (FEBS Lett. 2002) 2 3 64
  4. The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin E.L. … Gygi S.P. (Cell 2015) 3 64
  5. Von Willebrand factor-A1 domain binds platelet glycoprotein IbI+ in multiple states with distinctive force-dependent dissociation kinetics. (PMID: 26213126) Ju L. … Zhu C. (Thromb. Res. 2015) 3 64

Products for VWA1 Gene

Sources for VWA1 Gene

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