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Aliases for VWA5A Gene

Aliases for VWA5A Gene

  • Von Willebrand Factor A Domain Containing 5A 2 3 5
  • Loss Of Heterozygosity 11 Chromosomal Region 2 Gene A Protein 3 4
  • Loss Of Heterozygosity, 11, Chromosomal Region 2, Gene A 2 3
  • Breast Cancer Suppressor Candidate 1 3 4
  • LOH11CR2A 3 4
  • BCSC-1 3 4
  • BCSC1 3 4
  • Ortholog Of Mouse AW551984 3

External Ids for VWA5A Gene

Previous HGNC Symbols for VWA5A Gene

  • LOH11CR2A

Previous GeneCards Identifiers for VWA5A Gene

  • GC11P123492
  • GC11P123987
  • GC11P119926

Summaries for VWA5A Gene

GeneCards Summary for VWA5A Gene

VWA5A (Von Willebrand Factor A Domain Containing 5A) is a Protein Coding gene. An important paralog of this gene is PARP4.

UniProtKB/Swiss-Prot for VWA5A Gene

  • May play a role in tumorigenesis as a tumor suppressor. Altered expression of this protein and disruption of the molecular pathway it is involved in, may contribute directly to or modify tumorigenesis.

No data available for Entrez Gene Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for VWA5A Gene

Genomics for VWA5A Gene

Regulatory Elements for VWA5A Gene

Promoters for VWA5A Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around VWA5A on UCSC Golden Path with GeneCards custom track

Genomic Location for VWA5A Gene

Chromosome:
11
Start:
124,115,362 bp from pter
End:
124,147,721 bp from pter
Size:
32,360 bases
Orientation:
Plus strand

Genomic View for VWA5A Gene

Genes around VWA5A on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
VWA5A Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for VWA5A Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for VWA5A Gene

Proteins for VWA5A Gene

  • Protein details for VWA5A Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    O00534-VMA5A_HUMAN
    Recommended name:
    von Willebrand factor A domain-containing protein 5A
    Protein Accession:
    O00534
    Secondary Accessions:
    • Q6UN19
    • Q6UN20
    • Q9BVF8

    Protein attributes for VWA5A Gene

    Size:
    786 amino acids
    Molecular mass:
    86489 Da
    Quaternary structure:
    No Data Available

    Alternative splice isoforms for VWA5A Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for VWA5A Gene

Proteomics data for VWA5A Gene at MOPED

Post-translational modifications for VWA5A Gene

  • Ubiquitination at Lys 621
  • Modification sites at PhosphoSitePlus

Other Protein References for VWA5A Gene

Antibody Products

No data available for DME Specific Peptides for VWA5A Gene

Domains & Families for VWA5A Gene

Protein Domains for VWA5A Gene

InterPro:
ProtoNet:

Graphical View of Domain Structure for InterPro Entry

O00534

UniProtKB/Swiss-Prot:

VMA5A_HUMAN :
  • Contains 1 VIT domain.
Domain:
  • Contains 1 VIT domain.
  • Contains 1 VWFA domain.
genes like me logo Genes that share domains with VWA5A: view

No data available for Gene Families for VWA5A Gene

Function for VWA5A Gene

Molecular function for VWA5A Gene

UniProtKB/Swiss-Prot Function:
May play a role in tumorigenesis as a tumor suppressor. Altered expression of this protein and disruption of the molecular pathway it is involved in, may contribute directly to or modify tumorigenesis.

Phenotypes for VWA5A Gene

GenomeRNAi human phenotypes for VWA5A:
genes like me logo Genes that share phenotypes with VWA5A: view

Animal Model Products

CRISPR Products

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for VWA5A Gene

Localization for VWA5A Gene

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for VWA5A Gene COMPARTMENTS Subcellular localization image for VWA5A gene
Compartment Confidence
nucleus 5
cytosol 2
endoplasmic reticulum 1
mitochondrion 1
plasma membrane 1

Gene Ontology (GO) - Cellular Components for VWA5A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005654 nucleoplasm IDA --
genes like me logo Genes that share ontologies with VWA5A: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot for VWA5A Gene

Pathways & Interactions for VWA5A Gene

SuperPathways for VWA5A Gene

No Data Available

Interacting Proteins for VWA5A Gene

STRING Interaction Network Preview (showing 2 interactants - click image to see details)
http://string-db.org/version_10/api/image/networkList?limit=0&targetmode=proteins&caller_identity=gene_cards&network_flavor=evidence&identifiers=9606.ENSP00000376504%0d%0a9606.ENSP00000289429%0d%0a9606.ENSP00000344818%0d%0a
Selected Interacting proteins: ENSP00000376504 for VWA5A Gene via STRING

Gene Ontology (GO) - Biological Process for VWA5A Gene

None

No data available for Pathways by source and SIGNOR curated interactions for VWA5A Gene

Drugs & Compounds for VWA5A Gene

No Compound Related Data Available

Transcripts for VWA5A Gene

Unigene Clusters for VWA5A Gene

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

Alternative Splicing Database (ASD) splice patterns (SP) for VWA5A Gene

ExUns: 1 ^ 2 ^ 3a · 3b ^ 4a · 4b ^ 5 ^ 6a · 6b ^ 7 ^ 8a · 8b ^ 9 ^ 10 ^ 11a · 11b ^ 12 ^ 13 ^ 14 ^ 15 ^ 16 ^ 17 ^ 18a · 18b ^ 19
SP1: - - -
SP2: - - - -
SP3: - -
SP4: - - -
SP5: - - - - - - - - - - - - - -
SP6: - - - - - - - - - - - - - - -
SP7: -
SP8:

Relevant External Links for VWA5A Gene

GeneLoc Exon Structure for
VWA5A
ECgene alternative splicing isoforms for
VWA5A

Expression for VWA5A Gene

mRNA expression in normal human tissues for VWA5A Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for VWA5A Gene

This gene is overexpressed in Stomach (11.0), Peripheral blood mononuclear cells (6.9), and Islet of Langerhans (6.7).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MOPED, and MaxQB for VWA5A Gene



SOURCE GeneReport for Unigene cluster for VWA5A Gene Hs.152944

mRNA Expression by UniProt/SwissProt for VWA5A Gene

O00534-VMA5A_HUMAN
Tissue specificity: Expressed at low level in many tissues. Not expressed in 80% of tumor cell lines tested.
genes like me logo Genes that share expression patterns with VWA5A: view

Protein tissue co-expression partners for VWA5A Gene

- Elite partner

Primer Products

In Situ Assay Products

No data available for mRNA differential expression in normal tissues for VWA5A Gene

Orthologs for VWA5A Gene

This gene was present in the common ancestor of chordates.

Orthologs for VWA5A Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia VWA5A 36
  • 99 (a)
OneToOne
VWA5A 35
  • 99.32 (n)
  • 98.85 (a)
cow
(Bos Taurus)
Mammalia VWA5A 35
  • 79.28 (n)
  • 71.81 (a)
VWA5A 36
  • 69 (a)
OneToOne
dog
(Canis familiaris)
Mammalia VWA5A 36
  • 71 (a)
OneToOne
VWA5A 35
  • 79.17 (n)
  • 71.57 (a)
mouse
(Mus musculus)
Mammalia Vwa5a 16
Vwa5a 35
  • 74.86 (n)
  • 69.53 (a)
AW551984 36
  • 63 (a)
OneToMany
Vwa5a 36
  • 68 (a)
OneToMany
oppossum
(Monodelphis domestica)
Mammalia VWA5A 36
  • 55 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 36
  • 59 (a)
OneToMany
-- 36
  • 50 (a)
OneToMany
-- 36
  • 65 (a)
OneToMany
rat
(Rattus norvegicus)
Mammalia Vwa5a 35
  • 75.01 (n)
  • 68.71 (a)
chicken
(Gallus gallus)
Aves -- 36
  • 31 (a)
OneToMany
-- 36
  • 32 (a)
OneToMany
lizard
(Anolis carolinensis)
Reptilia -- 36
  • 45 (a)
OneToMany
-- 36
  • 36 (a)
OneToMany
African clawed frog
(Xenopus laevis)
Amphibia MGC68953 35
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC101734291 35
  • 60.29 (n)
  • 54.29 (a)
zebrafish
(Danio rerio)
Actinopterygii LOC100535191 35
  • 54.33 (n)
  • 47.85 (a)
CU459204.1 36
  • 41 (a)
OneToMany
VWA5A (1 of 5) 36
  • 43 (a)
OneToMany
VWA5A (2 of 5) 36
  • 38 (a)
OneToMany
VWA5A (3 of 5) 36
  • 48 (a)
OneToMany
VWA5A (5 of 5) 36
  • 47 (a)
OneToMany
Species with no ortholog for VWA5A:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • 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 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 VWA5A Gene

ENSEMBL:
Gene Tree for VWA5A (if available)
TreeFam:
Gene Tree for VWA5A (if available)

Paralogs for VWA5A Gene

Paralogs for VWA5A Gene

genes like me logo Genes that share paralogs with VWA5A: view

Variants for VWA5A Gene

Sequence variations from dbSNP and Humsavar for VWA5A Gene

SNP ID Clin Chr 11 pos Sequence Context AA Info Type
rs2276054 - 124,136,265(-) CATAG(A/C)TGATT reference, missense
rs2276053 - 124,136,286(-) GCATC(C/T)TCCCG reference, missense
rs117689747 - 124,145,351(+) GGATG(C/G/T)GTGCC reference, missense
VAR_014196 -
rs35496433 - 124,118,667(+) CCTTG(A/G)GTCCT reference, missense

Structural Variations from Database of Genomic Variants (DGV) for VWA5A Gene

Variant ID Type Subtype PubMed ID
dgv82n21 CNV Gain 19592680
nsv898435 CNV Gain 21882294

Variation tolerance for VWA5A Gene

Residual Variation Intolerance Score: 86.9% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 6.49; 77.58% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for VWA5A Gene

HapMap Linkage Disequilibrium report
VWA5A

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for VWA5A Gene

Disorders for VWA5A Gene

Relevant External Links for VWA5A

Genetic Association Database (GAD)
VWA5A
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
VWA5A

No disorders were found for VWA5A Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for VWA5A Gene

Publications for VWA5A Gene

  1. The BCSC-1 locus at chromosome 11q23-q24 is a candidate tumor suppressor gene. (PMID: 14504409) Martin E.S. … Croce C.M. (Proc. Natl. Acad. Sci. U.S.A. 2003) 2 3 4 67
  2. Molecular cloning and characterization of LOH11CR2A, a new gene within a refined minimal region of LOH at 11q23. (PMID: 9417908) Monaco C. … Croce C.M. (Genomics 1997) 2 3
  3. A census of human soluble protein complexes. (PMID: 22939629) Havugimana P.C. … Emili A. (Cell 2012) 3
  4. Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population. (PMID: 23251661) Comuzzie A.G. … Butte N.F. (PLoS ONE 2012) 3
  5. Breast cancer suppressor candidate-1 (BCSC-1) is a melanoma tumor suppressor that down regulates MITF. (PMID: 22594792) Anghel S.I. … Piguet V. (Pigment Cell Melanoma Res 2012) 3

Products for VWA5A Gene

Sources for VWA5A Gene

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