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ACAP3 Gene(Protein Coding)

ArfGAP With Coiled-Coil, Ankyrin Repeat And PH Domains 3

GCID:
GC01M001292
GIFtS:
50
Genes Participants
UDN Logo

Aliases for ACAP3 Gene

Aliases for ACAP3 Gene

  • ArfGAP With Coiled-Coil, Ankyrin Repeat And PH Domains 3 2 3 5
  • Centaurin-Beta-5 3 4
  • Cnt-B5 3 4
  • CENTB5 3 4
  • Arf-GAP With Coiled-Coil, ANK Repeat And PH Domain-Containing Protein 3 3
  • Centaurin, Beta 5 2
  • 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 ACAP2.

UniProtKB/Swiss-Prot for ACAP3 Gene

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

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

Genomics for ACAP3 Gene

Products:

  1. Regulatory Element

Regulatory Elements for ACAP3 Gene

Enhancers for ACAP3 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
GH01G001172 1.2 Ensembl ENCODE 4.7 +135.7 135691 2.0 ATF1 PKNOX1 ARID4B YY1 YY2 NCOA1 REST ZNF592 SMARCA4 RFX3 ANKRD65 TTLL10 ACAP3 TTLL10-AS1
GH01G001356 1.7 FANTOM5 ENCODE dbSUPER 2 -49.8 -49762 6.5 HDGF ARNT AGO1 ARID4B SIN3A YBX1 DMAP1 ZNF2 ZNF143 FOS CCNL2 ENSG00000230092 LOC100288379 PUSL1 ANKRD65 NOC2L ATAD3A ENSG00000240731 LINC00115 LOC100129381
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around ACAP3 on UCSC Golden Path with GeneCards custom track

Promoters for ACAP3 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000000174 1309 2201 PKNOX1 ARNT CREB3L1 AGO1 ARID4B SIN3A FEZF1 DMAP1 ZNF2 YY1

Transcription factor binding sites by QIAGEN in the ACAP3 gene promoter:

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 Structure • Gene Density

RefSeq DNA sequence for ACAP3 Gene

Proteins for ACAP3 Gene

Products:

  1. Antibody
  2. Protein
  3. Assay

  • 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

Protein Expression for ACAP3 Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

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

Gene Families for ACAP3 Gene

HGNC:

Protein Domains for ACAP3 Gene

InterPro:
Blocks:
ProtoNet:

Suggested Antigen Peptide Sequences for ACAP3 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

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

No data available for UniProtKB/Swiss-Prot for ACAP3 Gene

Function for ACAP3 Gene

Products:

  1. Animal Model
  2. CRISPR
  3. miRNA
  4. Inhibitory RNA
  5. Clone
  6. Cell Line
  7. Flow Cytometry

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 --
GO:0046872 metal ion binding IEA --
genes like me logo Genes that share ontologies with ACAP3: view

Phenotypes for ACAP3 Gene

MGI mutant phenotypes for ACAP3:
inferred from 1 alleles
GenomeRNAi human phenotypes for ACAP3:
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

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

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
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 ACAP3 gene
Compartment Confidence
nucleus 2
cytosol 2
golgi apparatus 2
plasma membrane 1
extracellular 1
mitochondrion 1
peroxisome 1
endoplasmic reticulum 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

PathCards logo More details on SuperPathways for ACAP3
SuperPathway Contained pathways
1 Endocytosis
Endocytosis
-
genes like me logo Genes that share pathways with ACAP3: view

Pathways by source for ACAP3 Gene

1 KEGG pathway for ACAP3 Gene

Interacting Proteins for ACAP3 Gene

STRING Interaction Network Preview (showing 5 interactants - click image to see 25)
http://string-db.org/version_10/api/image/networkList?limit=0&targetmode=proteins&caller_identity=gene_cards&network_flavor=evidence&identifiers=9606.ENSP00000346733%0d%0a9606.ENSP00000364898%0d%0a9606.ENSP00000264972%0d%0a9606.ENSP00000261497%0d%0a9606.ENSP00000363054%0d%0a9606.ENSP00000314080%0d%0a
Selected Interacting proteins: ENSP00000346733 Q96P50-ACAP3_HUMAN for ACAP3 Gene via STRING MINT IID

Gene Ontology (GO) - Biological Process for ACAP3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0043547 positive regulation of GTPase activity IEA --
genes like me logo Genes that share ontologies with ACAP3: view

No data available for SIGNOR curated interactions for ACAP3 Gene

Drugs & Compounds for ACAP3 Gene

Products:

  1. Drug
No Compound Related Data Available

Transcripts for ACAP3 Gene

Products:

  1. CRISPR
  2. miRNA
  3. Inhibitory RNA
  4. Clone
  5. Flow Cytometry

mRNA/cDNA for ACAP3 Gene

(8) REFSEQ mRNAs :
(7) Additional mRNA sequences :
(178) Selected AceView cDNA sequences:
(13) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for ACAP3 Gene

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

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

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

Products:

  1. Primer

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for ACAP3 Gene

mRNA expression in normal human tissues for ACAP3 Gene
mRNA expression by BioGPS for ACAP3 GenemRNA expression by GTEx 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, PaxDb, MaxQB, and MOPED for ACAP3 Gene



Protein tissue co-expression partners for ACAP3 Gene

NURSA nuclear receptor signaling pathways regulating expression of ACAP3 Gene:

ACAP3

SOURCE GeneReport for Unigene cluster for ACAP3 Gene:

Hs.535257

Evidence on tissue expression from TISSUES for ACAP3 Gene

  • Nervous system(4.7)
genes like me logo Genes that share expression patterns with ACAP3: 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 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 35
  • 98 (a)
 OneToOne
cow
(Bos Taurus)
 Mammalia ACAP3 34 35
  • 88.21 (n)
dog
(Canis familiaris)
 Mammalia ACAP3 34 35
  • 87.65 (n)
mouse
(Mus musculus)
 Mammalia Acap3 34 16 35
  • 86.1 (n)
rat
(Rattus norvegicus)
 Mammalia Acap3 34
  • 84.52 (n)
platypus
(Ornithorhynchus anatinus)
 Mammalia -- 35
  • 73 (a)
 OneToMany
-- 35
  • 62 (a)
 OneToMany
oppossum
(Monodelphis domestica)
 Mammalia ACAP3 35
  • 65 (a)
 OneToOne
chicken
(Gallus gallus)
 Aves ACAP3 34 35
  • 75.52 (n)
lizard
(Anolis carolinensis)
 Reptilia -- 35
  • 81 (a)
 OneToMany
-- 35
  • 67 (a)
 OneToMany
tropical clawed frog
(Silurana tropicalis)
 Amphibia acap3 34
  • 71.24 (n)
Str.17649 34
zebrafish
(Danio rerio)
 Actinopterygii ACAP3 (1 of 3) 35
  • 79 (a)
 OneToMany
acap3b 34 35
  • 71.04 (n)
acap3a 35
  • 69 (a)
 OneToMany
Dr.17461 34
fruit fly
(Drosophila melanogaster)
 Insecta cenB1A 35
  • 35 (a)
 OneToMany
worm
(Caenorhabditis elegans)
 Secernentea cnt-1 35
  • 30 (a)
 OneToMany
baker's yeast
(Saccharomyces cerevisiae)
 Saccharomycetes AGE1 35
  • 22 (a)
 OneToMany
thale cress
(Arabidopsis thaliana)
 eudicotyledons AGD1 34
  • 42.84 (n)
rice
(Oryza sativa)
 Liliopsida Os09g0510700 34
  • 44.04 (n)
sea squirt
(Ciona savignyi)
 Ascidiacea -- 35
  • 39 (a)
 OneToMany
Species where no ortholog for ACAP3 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)
  • 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

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
rs1000013557 -- 1,307,957(+) GCCCC(C/G)CCTGT upstream-variant-2KB
rs1000022315 -- 1,296,519(+) GCTGT(G/T)GCCGG upstream-variant-2KB, reference, missense
rs1000056560 -- 1,296,315(+) GGGAG(A/G)CAAGG intron-variant, upstream-variant-2KB
rs1000090854 -- 1,301,823(+) CCCCC(C/T)GCACT intron-variant
rs1000236370 -- 1,300,912(+) GATTA(C/T)AGGCA intron-variant, utr-variant-5-prime

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

Variant ID Type Subtype PubMed ID
dgv25n54 CNV loss 21841781
dgv2n67 CNV gain 20364138
dgv6n100 CNV gain+loss 25217958
dgv7n100 CNV loss 25217958
esv2758912 CNV loss 17122850
esv3050 CNV loss 18987735
esv3890636 CNV loss 25118596
nsv1000169 CNV gain 25217958
nsv1009541 CNV gain 25217958
nsv10161 CNV gain+loss 18304495
nsv1074967 CNV deletion 25765185
nsv1118091 CNV deletion 24896259
nsv1119655 CNV deletion 24896259
nsv1133121 CNV tandem duplication 24896259
nsv1140724 CNV deletion 24896259
nsv1160772 CNV duplication 26073780
nsv1160788 CNV deletion 26073780
nsv160950 CNV insertion 16902084
nsv469848 CNV gain 16826518
nsv470680 CNV loss 18288195
nsv482937 CNV loss 15286789
nsv544947 CNV loss 21841781
nsv544965 CNV loss 21841781
nsv544969 CNV loss 21841781
nsv544971 CNV loss 21841781
nsv817616 CNV loss 17921354
nsv950452 CNV deletion 24416366
nsv997291 CNV gain 25217958

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

Human Gene Mutation Database (HGMD)
ACAP3
SNPedia medical, phenotypic, and genealogical associations of SNPs for
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 46 64
  2. [CENTB5 gene expression in human and mouse]. (PMID: 19548526) Shubina D.M. … Patkin E.L. (Mol. Biol. (Mosk.) 2009) 3 22 64
  3. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 3 4 64
  4. Prediction of the coding sequences of unidentified human genes. XIX. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro. (PMID: 11214970) Nagase T. … Ohara O. (DNA Res. 2000) 3 4 64
  5. A deep proteomics perspective on CRM1-mediated nuclear export and nucleocytoplasmic partitioning. (PMID: 26673895) KA+rlA+ K. … GAPrlich D. (Elife 2015) 3 64

Products for ACAP3 Gene

Sources for ACAP3 Gene

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