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

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

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
GH01H001121 1.5 Ensembl ENCODE dbSUPER 18.6 -312.3 -312250 2.6 HDGF FOXA2 ZFP64 ZNF2 GLIS2 ZNF143 ATF7 REST PPARG ZNF592 LOC105378580 LINC01770 UBE2J2 VWA1 INTS11 LINC00115 LOC101928626 SLC35E2 ATAD3B ENSG00000240731
GH01H001204 1.9 FANTOM5 Ensembl ENCODE dbSUPER 10.3 -227.6 -227595 4.8 HDGF ARNT ZNF133 GLIS2 FOS RUNX3 YY2 REST TSHZ1 ZNF623 CCNL2 ENSG00000240731 LOC100288379 MXRA8 SLC35E2 ANKRD65 ENSG00000230092 VWA1 LOC100129381 LINC01770
GH01H002253 1.8 FANTOM5 Ensembl ENCODE dbSUPER 10.2 +821.5 821531 6.4 PKNOX1 ATF1 ARNT BRCA1 ZNF2 ETS1 TCF12 GLIS2 CBX5 FOS ATAD3B CCNL2 ENSG00000240731 INTS11 CDK11A UBE2J2 RER1 CDK11B SLC35E2 LOC100288379
GH01H001303 1.4 ENCODE dbSUPER 10.3 -127.7 -127657 6.9 PKNOX1 MLX ARNT ARID4B SIN3A DMAP1 ZNF2 YY1 ZNF766 ZNF143 ATAD3B INTS11 ENSG00000240731 LINC00115 SLC35E2 CCNL2 LOC105378580 ANKRD65 SCNN1D ENSG00000229905
GH01H001461 1.1 Ensembl ENCODE 12.7 +27.5 27463 1.4 ELF3 HDGF PKNOX1 TFAP4 MXI1 SAP130 ARID4B CEBPG POLR2A FOXK2 VWA1 LINC01770 ANKRD65 MTCO1P12 LOC105378585 SLC35E2 ATAD3C ATAD3B GC01P001458
- 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 1039 1001 HDGF ATF1 RB1 ARID4B SIN3A ZBTB40 RARA GLIS2 EGR1 ETV6

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

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

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 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

(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
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)

Relevant External Links 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
  • neuronal ceroid lipofuscinosis 8 northern epilepsy variant
acrofacial dysostosis 1, nager type
  • nager acrofacial dysostosis
treacher collins syndrome 1
  • treacher collins syndrome
crouzon syndrome
  • craniofacial dysostosis
- elite association - COSMIC cancer census association via MalaCards
Search VWA1 in MalaCards View complete list of genes associated with diseases

Relevant External Links for VWA1

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
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 60
  2. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 60
  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 60
  4. Architecture of the human interactome defines protein communities and disease networks. (PMID: 28514442) Huttlin EL … Harper JW (Nature 2017) 3 60
  5. The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin EL … Gygi SP (Cell 2015) 3 60

Products for VWA1 Gene

Sources for VWA1 Gene

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