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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. Diseases associated with VWA1 include Ceroid Lipofuscinosis, Neuronal, 8, Northern Epilepsy Variant and Acrofacial Dysostosis 1, Nager Type. Gene Ontology (GO) annotations related to this gene include identical protein binding. An important paralog of this gene is MATN2.

UniProtKB/Swiss-Prot for VWA1 Gene

  • Promotes matrix assembly.

Additional gene information for VWA1 Gene

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

GeneHancer (GH) Regulatory Elements for VWA1 Gene

Promoters and enhancers for VWA1 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH01I001428 Promoter/Enhancer 2.6 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 558.2 -2.6 -2551 8.2 HDGF FOXA2 ZFP64 ARID4B SIN3A DMAP1 ZNF2 YY1 SLC30A9 FOS VWA1 ATAD3C ANKRD65 ATAD3B LOC100129381 RNF223 TMEM88B DVL1 NADK LINC01770
GH01I001510 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 11.8 +77.0 77045 2.6 HDGF CLOCK SMAD1 ARNT ARID4B SIN3A DMAP1 ZNF2 YY1 SLC30A9 ATAD3A ATAD3B ENSG00000230092 INTS11 CCNL2 CDK11A NOC2L LOC100288379 ENSG00000237094 RER1
GH01I001121 Enhancer 1.3 Ensembl ENCODE dbSUPER 18.6 -312.2 -312249 2.6 HDGF FOXA2 ZFP64 ZNF2 ZNF48 GLIS2 ARID2 ZNF143 ATF7 NCOA1 LINC01770 UBE2J2 VWA1 LOC101928626 LOC105378580 MXRA8 C1orf159 LINC00115 GC01M001125
GH01I001303 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 10.3 -127.7 -127656 6.9 PKNOX1 CLOCK MLX ARNT ARID4B SIN3A DMAP1 ZNF2 YY1 ZNF766 PUSL1 ACAP3 ATAD3B CCNL2 ANKRD65 SCNN1D ENSG00000240731 INTS11 ENSG00000272455 LOC100288379
GH01I001204 Promoter/Enhancer 2.2 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 10.3 -227.6 -227595 4.8 HDGF ARNT ZNF133 GLIS2 FOS RUNX3 YY2 REST TSHZ1 ZNF623 TNFRSF18 CCNL2 ENSG00000240731 LOC100288379 MXRA8 SLC35E2 ANKRD65 ENSG00000230092 VWA1 LOC100129381
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around VWA1 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the VWA1 gene promoter:

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)

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

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

Clone Products

No data available for Enzyme Numbers (IUBMB) , Phenotypes From GWAS Catalog , 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
endoplasmic reticulum 5
plasma membrane 2
mitochondrion 1
peroxisome 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 HDA,IDA 16502470
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

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

Drugs & Compounds for VWA1 Gene

No Compound Related Data Available

Transcripts for VWA1 Gene

Unigene Clusters for VWA1 Gene

Von Willebrand factor A domain containing 1:
Representative Sequences:

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
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

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 34
  • 99 (a)
OneToOne
dog
(Canis familiaris)
Mammalia VWA1 33 34
  • 84.09 (n)
cow
(Bos Taurus)
Mammalia VWA1 33 34
  • 83.5 (n)
mouse
(Mus musculus)
Mammalia Vwa1 33 16 34
  • 80.71 (n)
rat
(Rattus norvegicus)
Mammalia Vwa1 33
  • 80.29 (n)
oppossum
(Monodelphis domestica)
Mammalia VWA1 34
  • 51 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia VWA1 34
  • 1 (a)
OneToOne
chicken
(Gallus gallus)
Aves VWA1 33 34
  • 62.4 (n)
lizard
(Anolis carolinensis)
Reptilia VWA1 34
  • 55 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC100485693 33
  • 56.23 (n)
zebrafish
(Danio rerio)
Actinopterygii LOC568379 33
  • 50.67 (n)
vwa1 34
  • 30 (a)
OneToOne
sea squirt
(Ciona savignyi)
Ascidiacea CSA.10963 34
  • 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

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

Variants for VWA1 Gene

Sequence variations from dbSNP and Humsavar for VWA1 Gene

SNP ID Clin Chr 01 pos Variation AA Info Type
rs1000600492 -- 1,433,594(+) C/G upstream_transcript_variant
rs1000912194 -- 1,435,002(+) G/A upstream_transcript_variant
rs1001010953 -- 1,441,581(+) G/A 3_prime_UTR_variant
rs1001027830 -- 1,434,759(+) G/A upstream_transcript_variant
rs1001092131 -- 1,440,411(+) A/T 3_prime_UTR_variant

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

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

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

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

Disorders for VWA1 Gene

MalaCards: The human disease database

(4) MalaCards diseases for VWA1 Gene - From: HGMD and DISEASES

Disorder Aliases PubMed IDs
ceroid lipofuscinosis, neuronal, 8, northern epilepsy variant
  • ceroid lipofuscinosis, neuronal, 8
acrofacial dysostosis 1, nager type
  • afd1
treacher collins syndrome 1
  • tcs1
crouzon syndrome
  • craniofacial dysostosis, type i; cfd1
- 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 22 58
  2. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 58
  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 58
  4. Architecture of the human interactome defines protein communities and disease networks. (PMID: 28514442) Huttlin EL … Harper JW (Nature 2017) 3 58
  5. Extracellular matrix remodelling in response to venous hypertension: proteomics of human varicose veins. (PMID: 27068509) Barallobre-Barreiro J … Mayr M (Cardiovascular research 2016) 3 58

Products for VWA1 Gene

Sources for VWA1 Gene

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