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Aliases for VWA5B1 Gene

Aliases for VWA5B1 Gene

  • Von Willebrand Factor A Domain Containing 5B1 2 3

External Ids for VWA5B1 Gene

Previous GeneCards Identifiers for VWA5B1 Gene

  • GC01P020491
  • GC01P020617
  • GC01P018863

Summaries for VWA5B1 Gene

GeneCards Summary for VWA5B1 Gene

VWA5B1 (Von Willebrand Factor A Domain Containing 5B1) is a Protein Coding gene. An important paralog of this gene is VWA5A.

No data available for Entrez Gene Summary , UniProtKB/Swiss-Prot , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for VWA5B1 Gene

Genomics for VWA5B1 Gene

Regulatory Elements for VWA5B1 Gene

Genomic Location for VWA5B1 Gene

20,290,907 bp from pter
20,360,221 bp from pter
69,315 bases
Plus strand

Genomic View for VWA5B1 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for VWA5B1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for VWA5B1 Gene

Proteins for VWA5B1 Gene

  • Protein details for VWA5B1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    von Willebrand factor A domain-containing protein 5B1
    Protein Accession:
    Secondary Accessions:
    • A4IF35
    • A4IF36
    • Q3ZCM4
    • Q6ZUB4
    • Q96M71

    Protein attributes for VWA5B1 Gene

    1220 amino acids
    Molecular mass:
    133802 Da
    Quaternary structure:
    No Data Available
    • Sequence=BAB71439.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305};

    Alternative splice isoforms for VWA5B1 Gene


neXtProt entry for VWA5B1 Gene

Proteomics data for VWA5B1 Gene at MOPED

Post-translational modifications for VWA5B1 Gene

  • Glycosylation at Asn 140, Asn 650, and Asn 1017
  • Modification sites at PhosphoSitePlus

Other Protein References for VWA5B1 Gene

No data available for DME Specific Peptides for VWA5B1 Gene

Domains & Families for VWA5B1 Gene

Protein Domains for VWA5B1 Gene


Suggested Antigen Peptide Sequences for VWA5B1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry



  • Contains 1 VIT domain.
  • Contains 1 VIT domain.
  • Contains 1 VWFA domain.
genes like me logo Genes that share domains with VWA5B1: view

No data available for Gene Families for VWA5B1 Gene

Function for VWA5B1 Gene

genes like me logo Genes that share phenotypes with VWA5B1: view

No data available for Molecular function , Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for VWA5B1 Gene

Localization for VWA5B1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for VWA5B1 Gene


Subcellular locations from

Jensen Localization Image for VWA5B1 Gene COMPARTMENTS Subcellular localization image for VWA5B1 gene
Compartment Confidence
extracellular 3
mitochondrion 3
cytosol 2
plasma membrane 2

Gene Ontology (GO) - Cellular Components for VWA5B1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region IEA --
genes like me logo Genes that share ontologies with VWA5B1: view

Pathways & Interactions for VWA5B1 Gene

SuperPathways for VWA5B1 Gene

No Data Available

Interacting Proteins for VWA5B1 Gene

Gene Ontology (GO) - Biological Process for VWA5B1 Gene


No data available for Pathways by source and SIGNOR curated interactions for VWA5B1 Gene

Drugs & Compounds for VWA5B1 Gene

No Compound Related Data Available

Transcripts for VWA5B1 Gene

mRNA/cDNA for VWA5B1 Gene

(19) REFSEQ mRNAs :
(6) Additional mRNA sequences :
(6) Selected AceView cDNA sequences:
(8) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for VWA5B1 Gene

Von Willebrand factor A domain containing 5B1:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for VWA5B1 Gene

ExUns: 1a · 1b ^ 2a · 2b ^ 3 ^ 4a · 4b ^ 5a · 5b · 5c ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16 ^ 17 ^ 18 ^ 19 ^ 20a · 20b
SP2: - -
SP3: -
SP4: - -
SP5: - -

Relevant External Links for VWA5B1 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for VWA5B1 Gene

mRNA expression in normal human tissues for VWA5B1 Gene

mRNA differential expression in normal tissues according to GTEx for VWA5B1 Gene

This gene is overexpressed in Pituitary (x16.5), Testis (x11.4), and Brain - Hypothalamus (x5.8).

Protein differential expression in normal tissues from HIPED for VWA5B1 Gene

This gene is overexpressed in Monocytes (60.4) and Heart (8.3).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for VWA5B1 Gene

SOURCE GeneReport for Unigene cluster for VWA5B1 Gene Hs.205178

genes like me logo Genes that share expression patterns with VWA5B1: view

Protein tissue co-expression partners for VWA5B1 Gene

Primer Products

In Situ Assay Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and mRNA Expression by UniProt/SwissProt for VWA5B1 Gene

Orthologs for VWA5B1 Gene

This gene was present in the common ancestor of chordates.

Orthologs for VWA5B1 Gene

Organism Taxonomy Gene Similarity Type Details
(Bos Taurus)
Mammalia VWA5B1 35
  • 85.14 (n)
  • 82.5 (a)
VWA5B1 36
  • 73 (a)
(Canis familiaris)
Mammalia VWA5B1 35
  • 86.61 (n)
  • 83.96 (a)
-- 36
  • 81 (a)
-- 36
  • 77 (a)
(Mus musculus)
Mammalia Vwa5b1 35
  • 79.94 (n)
  • 74.12 (a)
Vwa5b1 16
Vwa5b1 36
  • 73 (a)
(Pan troglodytes)
Mammalia VWA5B1 35
  • 98.23 (n)
  • 97.84 (a)
VWA5B1 36
  • 98 (a)
(Rattus norvegicus)
Mammalia Vwa5b1 35
  • 79.7 (n)
  • 73.6 (a)
(Monodelphis domestica)
Mammalia VWA5B1 36
  • 51 (a)
(Ornithorhynchus anatinus)
Mammalia VWA5B1 36
  • 63 (a)
(Gallus gallus)
Aves VWA5B1 35
  • 64.88 (n)
  • 58.35 (a)
-- 36
  • 43 (a)
-- 36
  • 69 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC101730263 35
  • 62.92 (n)
  • 56.97 (a)
(Danio rerio)
Actinopterygii vwa5b1 36
  • 49 (a)
Species with no ortholog for VWA5B1:
  • 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)
  • lizard (Anolis carolinensis)
  • 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 squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • 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 VWA5B1 Gene

Gene Tree for VWA5B1 (if available)
Gene Tree for VWA5B1 (if available)

Paralogs for VWA5B1 Gene

Paralogs for VWA5B1 Gene

genes like me logo Genes that share paralogs with VWA5B1: view

Variants for VWA5B1 Gene

Sequence variations from dbSNP and Humsavar for VWA5B1 Gene

SNP ID Clin Chr 01 pos Sequence Context AA Info Type MAF
rs126034 -- 20,351,538(+) tccca(C/G)ctact intron-variant
rs170724 -- 20,346,901(-) GATCA(C/T)TTTGG intron-variant
rs179471 -- 20,350,439(+) AGTAC(A/T)CTGGT intron-variant, downstream-variant-500B
rs230175 -- 20,358,212(+) TGAAT(A/G)GACTA utr-variant-3-prime
rs230176 -- 20,357,976(+) CCACA(C/T)GCAGA utr-variant-3-prime

Structural Variations from Database of Genomic Variants (DGV) for VWA5B1 Gene

Variant ID Type Subtype PubMed ID
esv2669937 CNV Deletion 23128226
nsv871750 CNV Gain 21882294
nsv5631 CNV Insertion 18451855

Variation tolerance for VWA5B1 Gene

Gene Damage Index Score: 18.65; 98.63% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for VWA5B1 Gene

HapMap Linkage Disequilibrium report

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for VWA5B1 Gene

Disorders for VWA5B1 Gene

Relevant External Links for VWA5B1

Genetic Association Database (GAD)
Human Genome Epidemiology (HuGE) Navigator
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
genes like me logo Genes that share disorders with VWA5B1: view

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for VWA5B1 Gene

Publications for VWA5B1 Gene

  1. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose J.E. … Uhl G.R. (Mol. Med. 2010) 67
  2. A quantitative atlas of mitotic phosphorylation. (PMID: 18669648) Dephoure N. … Gygi S.P. (Proc. Natl. Acad. Sci. U.S.A. 2008) 67
  3. Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes. (PMID: 16344560) Kimura K. … Sugano S. (Genome Res. 2006) 67
  4. The DNA sequence and biological annotation of human chromosome 1. (PMID: 16710414) Gregory S.G. … Bentley D.R. (Nature 2006) 67
  5. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 67

Products for VWA5B1 Gene

Sources for VWA5B1 Gene

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