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Aliases for VWA5B1 Gene

Aliases for VWA5B1 Gene

  • Von Willebrand Factor A Domain Containing 5B1 2 3 5

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 VWA5B2.

No data available for Entrez Gene Summary , CIViC 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

Enhancers for VWA5B1 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
GH01G020210 1.4 Ensembl ENCODE dbSUPER 10.7 -78.9 -78914 3.1 HDAC1 PKNOX1 FOXA2 TBL1XR1 NFIB RAD21 ETS1 ZNF766 ZNF143 FOS CAMK2N1 MUL1 VWA5B1 ENSG00000226664 UBXN10 LOC105376826 LOC105376825
GH01G020406 1.1 ENCODE dbSUPER 10.6 +115.5 115496 0.2 HDAC1 ZNF76 SIN3A DMAP1 ZNF2 RAD21 ZNF335 GLIS2 GATA4 SCRT2 ENSG00000226664 VWA5B1 PIR44198 ENSG00000226487
GH01G020255 1 Ensembl ENCODE 11.2 -35.0 -35010 1.1 TFAP4 ESRRA JUN KLF17 FOSL1 ZNF366 ZNF600 FOS ZNF639 ZNF680 VWA5B1 LINC01757 LOC105376828
GH01G020465 1 dbSUPER 10.5 +171.5 171497 2.5 PKNOX1 ARNT ZFP64 SIN3A FEZF1 YY1 ZNF766 ZNF207 KLF7 TSHZ1 MUL1 CAMK2N1 VWA5B1 LINC01141
GH01G020463 1 dbSUPER 10.5 +171.6 171550 2.4 PKNOX1 ARNT ZFP64 SIN3A FEZF1 YY1 ZNF207 KLF7 TSHZ1 REST MUL1 CAMK2N1 VWA5B1 LINC01141
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around VWA5B1 on UCSC Golden Path with GeneCards custom track

Genomic Location for VWA5B1 Gene

Chromosome:
1
Start:
20,290,907 bp from pter
End:
20,360,221 bp from pter
Size:
69,315 bases
Orientation:
Plus strand

Genomic View for VWA5B1 Gene

Genes around VWA5B1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
VWA5B1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
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:
    Q5TIE3-VW5B1_HUMAN
    Recommended name:
    von Willebrand factor A domain-containing protein 5B1
    Protein Accession:
    Q5TIE3
    Secondary Accessions:
    • A4IF35
    • A4IF36
    • Q3ZCM4
    • Q6ZUB4
    • Q96M71

    Protein attributes for VWA5B1 Gene

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

    Alternative splice isoforms for VWA5B1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for VWA5B1 Gene

Post-translational modifications for VWA5B1 Gene

  • Glycosylation at posLast=140140, Asn650, and Asn1017
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for VWA5B1 Gene

Domains & Families for VWA5B1 Gene

Protein Domains for VWA5B1 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for VWA5B1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

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

No data available for Gene Families and UniProtKB/Swiss-Prot for VWA5B1 Gene

Function for VWA5B1 Gene

Phenotypes for VWA5B1 Gene

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

Animal Model Products

Inhibitory RNA Products

Flow Cytometry Products

No data available for Molecular function , Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , 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

Secreted.

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 VWA5B1 gene
Compartment Confidence
plasma membrane 3
extracellular 3
mitochondrion 3
cytosol 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

None

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

Transcripts for VWA5B1 Gene

mRNA/cDNA for VWA5B1 Gene

(16) 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:

Inhibitory RNA Products

Flow Cytometry Products

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
SP1:
SP2: - -
SP3: -
SP4: - -
SP5: - -
SP6:
SP7:

Relevant External Links for VWA5B1 Gene

GeneLoc Exon Structure for
VWA5B1
ECgene alternative splicing isoforms for
VWA5B1

Expression for VWA5B1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE 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, PaxDb, and MOPED for VWA5B1 Gene



Protein tissue co-expression partners for VWA5B1 Gene

NURSA nuclear receptor signaling pathways regulating expression of VWA5B1 Gene:

VWA5B1

SOURCE GeneReport for Unigene cluster for VWA5B1 Gene:

Hs.205178

Evidence on tissue expression from TISSUES for VWA5B1 Gene

  • Lung(5)
genes like me logo Genes that share expression patterns with VWA5B1: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer 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
chimpanzee
(Pan troglodytes)
Mammalia VWA5B1 34 35
  • 98.23 (n)
dog
(Canis familiaris)
Mammalia VWA5B1 34
  • 86.61 (n)
-- 35
  • 81 (a)
OneToMany
-- 35
  • 77 (a)
OneToMany
cow
(Bos Taurus)
Mammalia VWA5B1 34 35
  • 85.14 (n)
mouse
(Mus musculus)
Mammalia Vwa5b1 34 16 35
  • 79.94 (n)
rat
(Rattus norvegicus)
Mammalia Vwa5b1 34
  • 79.7 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia VWA5B1 35
  • 63 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia VWA5B1 35
  • 51 (a)
OneToOne
chicken
(Gallus gallus)
Aves -- 35
  • 69 (a)
OneToMany
VWA5B1 34
  • 64.88 (n)
-- 35
  • 43 (a)
OneToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC101730263 34
  • 62.92 (n)
zebrafish
(Danio rerio)
Actinopterygii vwa5b1 35
  • 49 (a)
OneToOne
Species where no ortholog for VWA5B1 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)
  • 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

ENSEMBL:
Gene Tree for VWA5B1 (if available)
TreeFam:
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
rs1000027948 -- 20,344,085(+) ACACA(C/G)GCATA intron-variant
rs1000084957 -- 20,313,953(+) GAAGG(A/G)ATAGG intron-variant
rs1000119951 -- 20,337,896(+) AGCTG(C/T)GTCCC intron-variant
rs1000173985 -- 20,350,259(+) TCTTC(A/G)TCAAG intron-variant, downstream-variant-500B
rs1000203878 -- 20,311,823(+) GGAAA(A/C)TTTCT intron-variant

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

Variant ID Type Subtype PubMed ID
esv2669937 CNV deletion 23128226
esv2762277 CNV loss 21179565
esv3585419 CNV loss 21293372
nsv1077197 CNV deletion 25765185
nsv1129128 CNV insertion 24896259
nsv545731 CNV gain 21841781
nsv5631 CNV insertion 18451855
nsv998806 CNV loss 25217958

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

SNPedia medical, phenotypic, and genealogical associations of SNPs for
VWA5B1

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)
VWA5B1
Human Genome Epidemiology (HuGE) Navigator
VWA5B1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
VWA5B1

No disorders were found for VWA5B1 Gene.

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) 3 46 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. A quantitative atlas of mitotic phosphorylation. (PMID: 18669648) Dephoure N. … Gygi S.P. (Proc. Natl. Acad. Sci. U.S.A. 2008) 4 64
  4. 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) 3 64
  5. The DNA sequence and biological annotation of human chromosome 1. (PMID: 16710414) Gregory S.G. … Bentley D.R. (Nature 2006) 4 64

Products for VWA5B1 Gene

Sources for VWA5B1 Gene

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