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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.

Additional gene information for VWA5B1 Gene

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

GeneHancer (GH) Regulatory Elements for VWA5B1 Gene

Promoters and enhancers for VWA5B1 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
GH01I020290 Promoter/Enhancer 1.4 EPDnew Ensembl ENCODE 550.8 0.0 -38 0.7 ZNF792 ZSCAN4 ZNF133 SIN3A FEZF1 ZIC2 HIC1 ZNF335 ZNF791 POLR2A VWA5B1 HP1BP3 CAMK2N1 LOC105376828
GH01I020210 Enhancer 1.2 Ensembl ENCODE dbSUPER 10.7 -78.9 -78913 3.1 HDAC1 PKNOX1 SMAD1 NFIB RAD21 ETS1 ZNF766 ZNF143 FOS ZNF654 LOC105376826 CAMK2N1 MUL1 VWA5B1 ENSG00000226664 UBXN10 LOC105376825
GH01I020255 Enhancer 0.9 Ensembl ENCODE 11.2 -35.0 -35009 1.1 TFAP4 JUN KLF17 RFX5 FOSL1 ZNF335 ZNF366 VEZF1 FOSL2 FOS VWA5B1 LINC01757 LOC105376828
GH01I020343 Enhancer 0.8 Ensembl ENCODE 10.6 +52.8 52826 1.4 HDGF EBF1 ZNF148 SP1 ZFHX2 ZNF184 EGR1 POLR2A VEZF1 MLLT1 ENSG00000226664 VWA5B1 CAMK2N1 MUL1 GC01P020350
GH01I020428 Enhancer 0.8 dbSUPER 10.3 +138.9 138918 3.1 BCOR CTCF ETV1 SIN3A ZMYM3 ZNF2 RAD21 CC2D1A GLIS2 ZNF366 LINC01141 MUL1 ENSG00000226664 VWA5B1 PINK1 ENSG00000226487
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around VWA5B1 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the VWA5B1 gene promoter:

Genomic Locations for VWA5B1 Gene

Genomic Locations for VWA5B1 Gene
chr1:20,290,907-20,360,221
(GRCh38/hg38)
Size:
69,315 bases
Orientation:
Plus strand
chr1:20,617,412-20,681,387
(GRCh37/hg19)

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, posLast=650650, and isoforms=2, 51017

No data available for DME Specific Peptides for VWA5B1 Gene

Domains & Families for VWA5B1 Gene

Gene Families for VWA5B1 Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins

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 UniProtKB/Swiss-Prot for VWA5B1 Gene

Function for VWA5B1 Gene

Phenotypes From GWAS Catalog for VWA5B1 Gene

Phenotypes for VWA5B1 Gene

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

Clone 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

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (2)
  • Mitochondria (2)
  • Plasma membrane (2)
See all subcellular structures

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

Drugs & Compounds for VWA5B1 Gene

No Compound Related Data Available

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:

Clone 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

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 33 34
  • 98.23 (n)
dog
(Canis familiaris)
Mammalia VWA5B1 33
  • 86.61 (n)
-- 34
  • 81 (a)
OneToMany
-- 34
  • 77 (a)
OneToMany
cow
(Bos Taurus)
Mammalia VWA5B1 33 34
  • 85.14 (n)
mouse
(Mus musculus)
Mammalia Vwa5b1 33 16 34
  • 79.94 (n)
rat
(Rattus norvegicus)
Mammalia Vwa5b1 33
  • 79.7 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia VWA5B1 34
  • 63 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia VWA5B1 34
  • 51 (a)
OneToOne
chicken
(Gallus gallus)
Aves -- 34
  • 69 (a)
OneToMany
VWA5B1 33
  • 64.88 (n)
-- 34
  • 43 (a)
OneToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC101730263 33
  • 62.92 (n)
zebrafish
(Danio rerio)
Actinopterygii vwa5b1 34
  • 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 Variation AA Info Type
rs1000027948 -- 20,344,085(+) C/G genic_downstream_transcript_variant, intron_variant
rs1000084957 -- 20,313,953(+) A/G genic_upstream_transcript_variant, intron_variant
rs1000119951 -- 20,337,896(+) T/C intron_variant
rs1000173985 -- 20,350,259(+) A/C/G downstream_transcript_variant, genic_downstream_transcript_variant, intron_variant
rs1000203878 -- 20,311,823(+) C/A genic_upstream_transcript_variant, intron_variant

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

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

Variation tolerance for VWA5B1 Gene

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

Additional Variant Information 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

Additional Disease Information for VWA5B1

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology

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 JE … Uhl GR (Molecular medicine (Cambridge, Mass.) 2010) 3 44 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. A quantitative atlas of mitotic phosphorylation. (PMID: 18669648) Dephoure N … Gygi SP (Proceedings of the National Academy of Sciences of the United States of America 2008) 4 58
  4. Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes. (PMID: 16344560) Kimura K … Sugano S (Genome research 2006) 3 58
  5. The DNA sequence and biological annotation of human chromosome 1. (PMID: 16710414) Gregory SG … Prigmore E (Nature 2006) 4 58

Products for VWA5B1 Gene

Sources for VWA5B1 Gene

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