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Aliases for EFCAB6 Gene

Aliases for EFCAB6 Gene

  • EF-Hand Calcium Binding Domain 6 2 3 5
  • CAP-Binding Protein Complex-Interacting Protein 1 3 4
  • DJ-1-Binding Protein 3 4
  • DJBP 3 4
  • DJ185D5.1 3
  • HSCBCIP1 3
  • KIAA1672 4

External Ids for EFCAB6 Gene

Previous GeneCards Identifiers for EFCAB6 Gene

  • GC22M042255
  • GC22M043924
  • GC22M026879

Summaries for EFCAB6 Gene

Entrez Gene Summary for EFCAB6 Gene

  • This gene encodes a protein which directly binds the oncogene DJ-1 and androgen receptor to form a ternary complex in cells. This binding protein recruits histone-deacetylase complexes in order to repress transcription activity of androgen receptor. This protein may also play a role in spermatogenesis and fertilization. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2011]

GeneCards Summary for EFCAB6 Gene

EFCAB6 (EF-Hand Calcium Binding Domain 6) is a Protein Coding gene. Among its related pathways are Androgen receptor signaling pathway. GO annotations related to this gene include calcium ion binding.

UniProtKB/Swiss-Prot for EFCAB6 Gene

  • Negatively regulates the androgen receptor by recruiting histone deacetylase complex, and protein DJ-1 antagonizes this inhibition by abrogation of this complex.

Gene Wiki entry for EFCAB6 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for EFCAB6 Gene

Genomics for EFCAB6 Gene

Regulatory Elements for EFCAB6 Gene

Promoters for EFCAB6 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around EFCAB6 on UCSC Golden Path with GeneCards custom track

Genomic Location for EFCAB6 Gene

Chromosome:
22
Start:
43,528,561 bp from pter
End:
43,812,337 bp from pter
Size:
283,777 bases
Orientation:
Minus strand

Genomic View for EFCAB6 Gene

Genes around EFCAB6 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
EFCAB6 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for EFCAB6 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for EFCAB6 Gene

Proteins for EFCAB6 Gene

  • Protein details for EFCAB6 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q5THR3-EFCB6_HUMAN
    Recommended name:
    EF-hand calcium-binding domain-containing protein 6
    Protein Accession:
    Q5THR3
    Secondary Accessions:
    • A8K8P6
    • A8K8Y3
    • B0QYI4
    • B0QYI6
    • Q5U5T6
    • Q9BY88
    • Q9H5C4
    • Q9NSF5

    Protein attributes for EFCAB6 Gene

    Size:
    1501 amino acids
    Molecular mass:
    172930 Da
    Quaternary structure:
    • Binds PARK7. Part of a ternary complex containing PARK7, EFCAB6/DJBP and AR.

    Three dimensional structures from OCA and Proteopedia for EFCAB6 Gene

    Alternative splice isoforms for EFCAB6 Gene

neXtProt entry for EFCAB6 Gene

Proteomics data for EFCAB6 Gene at MOPED

Post-translational modifications for EFCAB6 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for EFCAB6 Gene

No data available for DME Specific Peptides for EFCAB6 Gene

Domains & Families for EFCAB6 Gene

Gene Families for EFCAB6 Gene

Protein Domains for EFCAB6 Gene

Suggested Antigen Peptide Sequences for EFCAB6 Gene

Graphical View of Domain Structure for InterPro Entry

Q5THR3

UniProtKB/Swiss-Prot:

EFCB6_HUMAN :
  • Contains 17 EF-hand domains.
Domain:
  • Contains 17 EF-hand domains.
genes like me logo Genes that share domains with EFCAB6: view

Function for EFCAB6 Gene

Molecular function for EFCAB6 Gene

UniProtKB/Swiss-Prot Function:
Negatively regulates the androgen receptor by recruiting histone deacetylase complex, and protein DJ-1 antagonizes this inhibition by abrogation of this complex.

Phenotypes for EFCAB6 Gene

GenomeRNAi human phenotypes for EFCAB6:
genes like me logo Genes that share phenotypes with EFCAB6: view

Animal Model Products

CRISPR Products

miRNA for EFCAB6 Gene

Inhibitory RNA Products

In Situ Assay Products

Flow Cytometry 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 EFCAB6 Gene

Localization for EFCAB6 Gene

Subcellular locations from UniProtKB/Swiss-Prot for EFCAB6 Gene

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for EFCAB6 Gene COMPARTMENTS Subcellular localization image for EFCAB6 gene
Compartment Confidence
nucleus 4
mitochondrion 2
cytosol 1

No data available for Gene Ontology (GO) - Cellular Components for EFCAB6 Gene

Pathways & Interactions for EFCAB6 Gene

genes like me logo Genes that share pathways with EFCAB6: view

Pathways by source for EFCAB6 Gene

1 BioSystems pathway for EFCAB6 Gene

Gene Ontology (GO) - Biological Process for EFCAB6 Gene

None

No data available for SIGNOR curated interactions for EFCAB6 Gene

Drugs & Compounds for EFCAB6 Gene

No Compound Related Data Available

Transcripts for EFCAB6 Gene

Unigene Clusters for EFCAB6 Gene

EF-hand calcium binding domain 6:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for EFCAB6 Gene

ExUns: 1 ^ 2a · 2b ^ 3a · 3b ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11a · 11b ^ 12 ^ 13 ^ 14 ^ 15 ^ 16 ^ 17 ^ 18 ^ 19 ^ 20 ^ 21 ^ 22 ^ 23 ^
SP1: - - -
SP2:
SP3:
SP4: - -
SP5: -
SP6: -
SP7:
SP8:
SP9:

ExUns: 24 ^ 25 ^ 26a · 26b ^ 27 ^ 28 ^ 29 ^ 30 ^ 31a · 31b ^ 32 ^ 33 ^ 34 ^ 35 ^ 36
SP1: - -
SP2: - -
SP3: -
SP4:
SP5:
SP6:
SP7:
SP8: - -
SP9:

Relevant External Links for EFCAB6 Gene

GeneLoc Exon Structure for
EFCAB6
ECgene alternative splicing isoforms for
EFCAB6

Expression for EFCAB6 Gene

mRNA expression in normal human tissues for EFCAB6 Gene

mRNA differential expression in normal tissues according to GTEx for EFCAB6 Gene

This gene is overexpressed in Testis (x20.0).

Protein differential expression in normal tissues from HIPED for EFCAB6 Gene

This gene is overexpressed in Lung (29.1), Heart (17.3), and Liver, secretome (17.1).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for EFCAB6 Gene



SOURCE GeneReport for Unigene cluster for EFCAB6 Gene Hs.658996

mRNA Expression by UniProt/SwissProt for EFCAB6 Gene

Q5THR3-EFCB6_HUMAN
Tissue specificity: Specifically expressed in the testis.
genes like me logo Genes that share expression patterns with EFCAB6: view

Protein tissue co-expression partners for EFCAB6 Gene

Primer Products

In Situ Assay Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery for EFCAB6 Gene

Orthologs for EFCAB6 Gene

This gene was present in the common ancestor of chordates.

Orthologs for EFCAB6 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia EFCAB6 36
  • 99 (a)
OneToOne
EFCAB6 35
  • 99.26 (n)
  • 98.74 (a)
cow
(Bos Taurus)
Mammalia EFCAB6 35
  • 80.88 (n)
  • 76.6 (a)
EFCAB6 36
  • 76 (a)
OneToOne
dog
(Canis familiaris)
Mammalia EFCAB6 36
  • 73 (a)
OneToOne
EFCAB6 35
  • 81.96 (n)
  • 76.4 (a)
mouse
(Mus musculus)
Mammalia Efcab6 36
  • 65 (a)
OneToOne
Efcab6 16
Efcab6 35
  • 71.6 (n)
  • 66.85 (a)
oppossum
(Monodelphis domestica)
Mammalia EFCAB6 36
  • 48 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia EFCAB6 36
  • 39 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Efcab6 35
  • 72.29 (n)
  • 66.89 (a)
chicken
(Gallus gallus)
Aves EFCAB6 36
  • 54 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia EFCAB6 36
  • 40 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia Xl.32637 35
tropical clawed frog
(Silurana tropicalis)
Amphibia efcab6 35
  • 51.24 (n)
  • 38.63 (a)
zebrafish
(Danio rerio)
Actinopterygii im:7142172 35
  • 44.37 (n)
  • 30.79 (a)
EFCAB6 36
  • 17 (a)
OneToOne
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 33 (a)
OneToOne
Species with no ortholog for EFCAB6:
  • 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 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 EFCAB6 Gene

ENSEMBL:
Gene Tree for EFCAB6 (if available)
TreeFam:
Gene Tree for EFCAB6 (if available)

Paralogs for EFCAB6 Gene

No data available for Paralogs for EFCAB6 Gene

Variants for EFCAB6 Gene

Sequence variations from dbSNP and Humsavar for EFCAB6 Gene

SNP ID Clin Chr 22 pos Sequence Context AA Info Type
rs16990981 - 43,755,776(+) CTCCC(A/G)CTTGG intron-variant, nc-transcript-variant, reference, missense, utr-variant-5-prime
rs3747203 - 43,735,906(+) AACCC(C/T)TCTTA intron-variant, nc-transcript-variant, reference, missense
rs5764214 - 43,687,562(+) TTTAG(C/T)GGTGG nc-transcript-variant, reference, missense
rs6006438 - 43,683,848(+) TCTAG(A/C)GTTGA nc-transcript-variant, reference, missense
rs137794 - 43,683,800(+) AGTGT(A/G)TCTAA nc-transcript-variant, reference, missense

Structural Variations from Database of Genomic Variants (DGV) for EFCAB6 Gene

Variant ID Type Subtype PubMed ID
nsv915246 CNV Loss 21882294
nsv459892 CNV Gain 19166990
nsv471205 CNV Gain 18288195
nsv3646 CNV Loss 18451855
esv2724319 CNV Deletion 23290073
esv2724320 CNV Deletion 23290073
esv2724321 CNV Deletion 23290073
esv2724322 CNV Deletion 23290073
esv1623154 CNV Deletion 17803354
nsv191450 CNV Loss 16902084
nsv459893 CNV Gain 19166990
esv2662014 CNV Deletion 23128226
esv2724323 CNV Deletion 23290073
esv2658284 CNV Deletion 23128226
esv2673184 CNV Deletion 23128226
esv2539629 CNV Insertion 19546169
esv2724324 CNV Deletion 23290073
esv2668106 CNV Deletion 23128226
nsv834217 CNV Gain 17160897
nsv915255 CNV Gain 21882294
esv2672297 CNV Deletion 23128226
nsv834218 CNV Loss 17160897
dgv4998n71 CNV Loss 21882294

Variation tolerance for EFCAB6 Gene

Residual Variation Intolerance Score: 94.8% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 8.77; 86.71% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for EFCAB6 Gene

HapMap Linkage Disequilibrium report
EFCAB6

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for EFCAB6 Gene

Disorders for EFCAB6 Gene

Relevant External Links for EFCAB6

Genetic Association Database (GAD)
EFCAB6
Human Genome Epidemiology (HuGE) Navigator
EFCAB6
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
EFCAB6

No disorders were found for EFCAB6 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for EFCAB6 Gene

Publications for EFCAB6 Gene

  1. DJBP: a novel DJ-1-binding protein, negatively regulates the androgen receptor by recruiting histone deacetylase complex, and DJ-1 antagonizes this inhibition by abrogation of this complex. (PMID: 12612053) Niki T. … Ariga H. (Mol. Cancer Res. 2003) 2 3 4 67
  2. Identification of novel transcribed sequences on human chromosome 22 by expressed sequence tag mapping. (PMID: 11258795) Hirosawa M. … Ohara O. (DNA Res. 2001) 2 3
  3. Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers. (PMID: 23382691) Lauc G. … Rudan I. (PLoS Genet. 2013) 3
  4. Coeliac disease-associated risk variants in TNFAIP3 and REL implicate altered NF-kappaB signalling. (PMID: 19240061) Trynka G. … Wijmenga C. (Gut 2009) 3
  5. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3

Products for EFCAB6 Gene

Sources for EFCAB6 Gene

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