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Aliases for ACAP3 Gene

Aliases for ACAP3 Gene

  • ArfGAP With Coiled-Coil, Ankyrin Repeat And PH Domains 3 2 3 5
  • Centaurin, Beta 5 2 3
  • Centaurin-Beta-5 3 4
  • Cnt-B5 3 4
  • CENTB5 3 4
  • KIAA1716 4

External Ids for ACAP3 Gene

Previous HGNC Symbols for ACAP3 Gene

  • CENTB5

Previous GeneCards Identifiers for ACAP3 Gene

  • GC01M001220
  • GC01M000498

Summaries for ACAP3 Gene

GeneCards Summary for ACAP3 Gene

ACAP3 (ArfGAP With Coiled-Coil, Ankyrin Repeat And PH Domains 3) is a Protein Coding gene. Among its related pathways are Endocytosis. GO annotations related to this gene include GTPase activator activity. An important paralog of this gene is ASAP3.

UniProtKB/Swiss-Prot for ACAP3 Gene

  • GTPase-activating protein for the ADP ribosylation factor family.

No data available for Entrez Gene Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ACAP3 Gene

Genomics for ACAP3 Gene

Regulatory Elements for ACAP3 Gene

Genomic Location for ACAP3 Gene

Chromosome:
1
Start:
1,292,376 bp from pter
End:
1,309,609 bp from pter
Size:
17,234 bases
Orientation:
Minus strand

Genomic View for ACAP3 Gene

Genes around ACAP3 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ACAP3 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ACAP3 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ACAP3 Gene

Proteins for ACAP3 Gene

  • Protein details for ACAP3 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q96P50-ACAP3_HUMAN
    Recommended name:
    Arf-GAP with coiled-coil, ANK repeat and PH domain-containing protein 3
    Protein Accession:
    Q96P50
    Secondary Accessions:
    • B1AMF5
    • Q5TA42
    • Q5TA43
    • Q86UT3
    • Q9BSR9
    • Q9C0E7

    Protein attributes for ACAP3 Gene

    Size:
    834 amino acids
    Molecular mass:
    92495 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=BAB21807.1; Type=Erroneous initiation; Evidence={ECO:0000305};

    Alternative splice isoforms for ACAP3 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for ACAP3 Gene

Proteomics data for ACAP3 Gene at MOPED

Post-translational modifications for ACAP3 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for ACAP3 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for ACAP3 Gene

Domains & Families for ACAP3 Gene

Suggested Antigen Peptide Sequences for ACAP3 Gene

Graphical View of Domain Structure for InterPro Entry

Q96P50

UniProtKB/Swiss-Prot:

ACAP3_HUMAN :
  • Contains 1 Arf-GAP domain.
  • Contains 3 ANK repeats.
Domain:
  • Contains 1 Arf-GAP domain.
  • Contains 1 PH domain.
Similarity:
  • Contains 3 ANK repeats.
genes like me logo Genes that share domains with ACAP3: view

Function for ACAP3 Gene

Molecular function for ACAP3 Gene

UniProtKB/Swiss-Prot Function:
GTPase-activating protein for the ADP ribosylation factor family.

Gene Ontology (GO) - Molecular Function for ACAP3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005096 GTPase activator activity IEA --
genes like me logo Genes that share ontologies with ACAP3: view
genes like me logo Genes that share phenotypes with ACAP3: view

Animal Models for ACAP3 Gene

MGI Knock Outs for ACAP3:

Animal Model Products

miRNA for ACAP3 Gene

miRTarBase miRNAs that target ACAP3

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for ACAP3 Gene

Localization for ACAP3 Gene

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for ACAP3 Gene COMPARTMENTS Subcellular localization image for ACAP3 gene
Compartment Confidence
cytosol 2
golgi apparatus 2
nucleus 2
endoplasmic reticulum 1
extracellular 1
mitochondrion 1
peroxisome 1
plasma membrane 1

No data available for Subcellular locations from UniProtKB/Swiss-Prot and Gene Ontology (GO) - Cellular Components for ACAP3 Gene

Pathways & Interactions for ACAP3 Gene

SuperPathways for ACAP3 Gene

Superpath Contained pathways
1 Endocytosis
genes like me logo Genes that share pathways with ACAP3: view

Pathways by source for ACAP3 Gene

1 KEGG pathway for ACAP3 Gene

Gene Ontology (GO) - Biological Process for ACAP3 Gene

None

No data available for SIGNOR curated interactions for ACAP3 Gene

Drugs & Compounds for ACAP3 Gene

No Compound Related Data Available

Transcripts for ACAP3 Gene

Unigene Clusters for ACAP3 Gene

ArfGAP with coiled-coil, ankyrin repeat and PH domains 3:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for ACAP3 Gene

ExUns: 1a · 1b · 1c ^ 2 ^ 3a · 3b · 3c ^ 4a · 4b ^ 5a · 5b ^ 6a · 6b · 6c · 6d ^ 7 ^ 8a · 8b ^ 9 ^ 10a · 10b ^ 11 ^ 12 ^ 13a · 13b ^ 14 ^
SP1: - - - - - - - -
SP2:
SP3: - -
SP4: - - - - - - - - -
SP5:
SP6: - - - - - - - -
SP7: - - - - -
SP8: - - - - - - - -
SP9: - - - - -
SP10: -
SP11:
SP12:
SP13: - -
SP14:

ExUns: 15 ^ 16a · 16b ^ 17 ^ 18a · 18b ^ 19 ^ 20 ^ 21a · 21b ^ 22 ^ 23 ^ 24 ^ 25 ^ 26a · 26b ^ 27a · 27b · 27c · 27d
SP1: - -
SP2: -
SP3: - -
SP4:
SP5: -
SP6:
SP7:
SP8:
SP9:
SP10: -
SP11: -
SP12:
SP13:
SP14:

Relevant External Links for ACAP3 Gene

GeneLoc Exon Structure for
ACAP3
ECgene alternative splicing isoforms for
ACAP3

Expression for ACAP3 Gene

mRNA expression in normal human tissues for ACAP3 Gene

mRNA differential expression in normal tissues according to GTEx for ACAP3 Gene

This gene is overexpressed in Brain - Cerebellum (x4.9) and Brain - Cerebellar Hemisphere (x4.3).

Protein differential expression in normal tissues from HIPED for ACAP3 Gene

This gene is overexpressed in Bone (57.3) and Pancreas (9.8).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MOPED, and MaxQB for ACAP3 Gene



SOURCE GeneReport for Unigene cluster for ACAP3 Gene Hs.535257

genes like me logo Genes that share expression patterns with ACAP3: view

Protein tissue co-expression partners for ACAP3 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 ACAP3 Gene

Orthologs for ACAP3 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for ACAP3 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia ACAP3 36
  • 98 (a)
OneToOne
cow
(Bos Taurus)
Mammalia ACAP3 35
  • 88.21 (n)
  • 92.54 (a)
ACAP3 36
  • 92 (a)
OneToOne
dog
(Canis familiaris)
Mammalia ACAP3 35
  • 87.65 (n)
  • 93.5 (a)
ACAP3 36
  • 93 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Acap3 35
  • 86.1 (n)
  • 94.11 (a)
Acap3 16
Acap3 36
  • 94 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia ACAP3 36
  • 65 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 36
  • 62 (a)
OneToMany
-- 36
  • 73 (a)
OneToMany
rat
(Rattus norvegicus)
Mammalia Acap3 35
  • 84.52 (n)
  • 93.06 (a)
chicken
(Gallus gallus)
Aves ACAP3 36
  • 80 (a)
OneToOne
ACAP3 35
  • 75.52 (n)
  • 80.56 (a)
lizard
(Anolis carolinensis)
Reptilia -- 36
  • 81 (a)
OneToMany
-- 36
  • 67 (a)
OneToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia acap3 35
  • 71.24 (n)
  • 77.78 (a)
Str.17649 35
zebrafish
(Danio rerio)
Actinopterygii acap3b 35
  • 71.04 (n)
  • 74.52 (a)
Dr.17461 35
ACAP3 (1 of 3) 36
  • 79 (a)
OneToMany
acap3a 36
  • 69 (a)
OneToMany
acap3b 36
  • 71 (a)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta cenB1A 36
  • 35 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea cnt-1 36
  • 30 (a)
OneToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes AGE1 36
  • 22 (a)
OneToMany
thale cress
(Arabidopsis thaliana)
eudicotyledons AGD1 35
  • 42.84 (n)
  • 35.57 (a)
rice
(Oryza sativa)
Liliopsida Os09g0510700 35
  • 44.04 (n)
  • 37.46 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 39 (a)
OneToMany
Species with no ortholog for ACAP3:
  • 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)
  • 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)
  • 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 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)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for ACAP3 Gene

ENSEMBL:
Gene Tree for ACAP3 (if available)
TreeFam:
Gene Tree for ACAP3 (if available)

Paralogs for ACAP3 Gene

(7) SIMAP similar genes for ACAP3 Gene using alignment to 4 proteins:

genes like me logo Genes that share paralogs with ACAP3: view

Variants for ACAP3 Gene

Sequence variations from dbSNP and Humsavar for ACAP3 Gene

SNP ID Clin Chr 01 pos Sequence Context AA Info Type
rs640712 -- 1,300,330(+) CCAGC(A/T)CTGGG intron-variant
rs1047203 -- 1,292,534(-) CAACT(C/T)TCTTG utr-variant-3-prime
rs1272959 -- 1,295,039(+) AGGCC(C/T)TTTGG intron-variant
rs1536167 -- 1,305,643(+) TCCTC(A/G)GTCCT intron-variant, utr-variant-5-prime
rs1749952 -- 1,295,309(-) CAGCT(A/G)GAGGC intron-variant

Structural Variations from Database of Genomic Variants (DGV) for ACAP3 Gene

Variant ID Type Subtype PubMed ID
nsv10161 CNV Gain+Loss 18304495
dgv2n67 CNV Gain 20364138
dgv10n71 CNV Loss 21882294
dgv12n71 CNV Loss 21882294
nsv470680 CNV Loss 18288195
dgv17n71 CNV Loss 21882294
dgv19n71 CNV Loss 21882294
dgv20n71 CNV Loss 21882294
nsv870527 CNV Gain 21882294
nsv469848 CNV Gain 16826518
nsv482937 CNV Loss 15286789
dgv22n71 CNV Loss 21882294
nsv871329 CNV Gain 21882294
dgv25n71 CNV Loss 21882294
nsv871327 CNV Loss 21882294
nsv870639 CNV Loss 21882294
nsv871666 CNV Gain+Loss 21882294
nsv817616 CNV Loss 17921354
dgv28n71 CNV Gain 21882294
dgv8e1 CNV Complex 17122850
dgv29n71 CNV Loss 21882294
nsv870963 CNV Loss 21882294
dgv30n71 CNV Gain 21882294
dgv31n71 CNV Gain 21882294
dgv32n71 CNV Gain+Loss 21882294
dgv33n71 CNV Loss 21882294
dgv34n71 CNV Loss 21882294
dgv35n71 CNV Loss 21882294
dgv36n71 CNV Loss 21882294
nsv160950 CNV Insertion 16902084
esv3050 CNV Deletion 18987735
esv2746141 CNV Deletion 23290073
dgv37n71 CNV Loss 21882294
esv2746252 CNV Deletion 23290073
nsv870491 CNV Loss 21882294
dgv38n71 CNV Loss 21882294

Variation tolerance for ACAP3 Gene

Residual Variation Intolerance Score: 14.1% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.50; 43.78% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for ACAP3 Gene

HapMap Linkage Disequilibrium report
ACAP3
Human Gene Mutation Database (HGMD)
ACAP3

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ACAP3 Gene

Disorders for ACAP3 Gene

Relevant External Links for ACAP3

Genetic Association Database (GAD)
ACAP3
Human Genome Epidemiology (HuGE) Navigator
ACAP3
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
ACAP3

No disorders were found for ACAP3 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for ACAP3 Gene

Publications for ACAP3 Gene

  1. Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study. (PMID: 20628086) Bailey S.D. … Anand S. (Diabetes Care 2010) 3 48 67
  2. [CENTB5 gene expression in human and mouse]. (PMID: 19548526) Shubina D.M. … Patkin E.L. (Mol. Biol. (Mosk.) 2009) 3 23
  3. A directed protein interaction network for investigating intracellular signal transduction. (PMID: 21900206) Vinayagam A. … Wanker E.E. (Sci Signal 2011) 3
  4. Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip. (PMID: 19913121) Talmud P.J. … . (Am. J. Hum. Genet. 2009) 3
  5. Centaurin-like protein Cnt5 contributes to arsenic and cadmium resistance in fission yeast. (PMID: 19076239) Vashisht A.A. … Russell P. (FEMS Yeast Res. 2009) 23

Products for ACAP3 Gene

Sources for ACAP3 Gene

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