Aliases for ACAP3 Gene

Aliases for ACAP3 Gene

  • ArfGAP With Coiled-Coil, Ankyrin Repeat And PH Domains 3 2 3 5
  • Arf-GAP With Coiled-Coil, ANK Repeat And PH Domain-Containing Protein 3 3 4
  • Centaurin-Beta-5 3 4
  • Cnt-B5 3 4
  • CENTB5 3 4
  • 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. Diseases associated with ACAP3 include Recessive Dystrophic Epidermolysis Bullosa. Among its related pathways are Endocytosis. Gene Ontology (GO) annotations related to this gene include GTPase activator activity. An important paralog of this gene is ACAP2.

UniProtKB/Swiss-Prot Summary for ACAP3 Gene

Additional gene information for ACAP3 Gene

No data available for Entrez Gene Summary , CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for ACAP3 Gene

Genomics for ACAP3 Gene

GeneHancer (GH) Regulatory Elements for ACAP3 Gene

Promoters and enhancers for ACAP3 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around ACAP3 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for ACAP3

Top Transcription factor binding sites by QIAGEN in the ACAP3 gene promoter:
  • E47
  • GATA-2
  • HEN1
  • HTF
  • NRSF form 1
  • NRSF form 2
  • STAT5A
  • ZID

Genomic Locations for ACAP3 Gene

Genomic Locations for ACAP3 Gene
chr1:1,292,384-1,309,609
(GRCh38/hg38)
Size:
17,226 bases
Orientation:
Minus strand
chr1:1,227,756-1,244,989
(GRCh37/hg19)
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

Post-translational modifications for ACAP3 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for ACAP3 Gene

Domains & Families for ACAP3 Gene

Protein Domains for ACAP3 Gene

Blocks:
  • Pleckstrin-like
  • HIV Rev interacting protein signature
InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for ACAP3 Gene

GenScript: Design optimal peptide antigens:
  • Centaurin-beta-5 (ACAP3_HUMAN)
  • Centaurin, beta 5 (Q5TA40_HUMAN)
  • ACAP3 protein (Q8N2W2_HUMAN)
  • ACAP3 protein (Q8WTZ1_HUMAN)
genes like me logo Genes that share domains with ACAP3: view

No data available for Graphical View of Domain Structure and UniProtKB/Swiss-Prot for ACAP3 Gene

Function for ACAP3 Gene

Molecular function for ACAP3 Gene

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

Phenotypes From GWAS Catalog for ACAP3 Gene

Gene Ontology (GO) - Molecular Function for ACAP3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005096 GTPase activator activity IEA --
GO:0005515 protein binding IEA --
GO:0046872 metal ion binding 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:
  • Acap3 Acap3<tm1a(EUCOMM)Hmgu>

Animal Model Products

CRISPR Products

miRNA for ACAP3 Gene

miRTarBase miRNAs that target ACAP3

Clone 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
plasma membrane 1
cytoskeleton 1
golgi apparatus 1
extracellular 0
mitochondrion 0
peroxisome 0
endoplasmic reticulum 0

Subcellular locations from the

Human Protein Atlas (HPA)
  • Golgi apparatus (2)
  • Nucleoplasm (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for ACAP3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0030426 growth cone IEA --
genes like me logo Genes that share ontologies with ACAP3: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot for ACAP3 Gene

Pathways & Interactions for ACAP3 Gene

PathCards logo

SuperPathways for ACAP3 Gene

SuperPathway 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

GO ID Qualified GO term Evidence PubMed IDs
GO:0001764 neuron migration IEA --
GO:0010975 regulation of neuron projection development IEA --
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

No Compound Related Data Available

Transcripts for ACAP3 Gene

mRNA/cDNA for ACAP3 Gene

1 REFSEQ mRNAs :
9 NCBI additional mRNA sequence :
13 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Clone 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

Expression for ACAP3 Gene

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



Protein tissue co-expression partners for ACAP3 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for 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

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 31
  • 98 (a)
OneToOne
cow
(Bos Taurus)
Mammalia ACAP3 31 30
  • 88.21 (n)
OneToOne
dog
(Canis familiaris)
Mammalia ACAP3 31 30
  • 87.65 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Acap3 17 31 30
  • 86.1 (n)
rat
(Rattus norvegicus)
Mammalia Acap3 30
  • 84.52 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia -- 31
  • 73 (a)
OneToMany
-- 31
  • 62 (a)
OneToMany
oppossum
(Monodelphis domestica)
Mammalia ACAP3 31
  • 65 (a)
OneToOne
chicken
(Gallus gallus)
Aves ACAP3 31 30
  • 75.52 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia -- 31
  • 81 (a)
OneToMany
-- 31
  • 67 (a)
OneToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia acap3 30
  • 71.24 (n)
Str.17649 30
zebrafish
(Danio rerio)
Actinopterygii ACAP3 (1 of 3) 31
  • 79 (a)
OneToMany
acap3b 31 30
  • 71.04 (n)
OneToMany
acap3a 31
  • 69 (a)
OneToMany
Dr.17461 30
fruit fly
(Drosophila melanogaster)
Insecta cenB1A 31
  • 35 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea cnt-1 31
  • 30 (a)
OneToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes AGE1 31
  • 22 (a)
OneToMany
thale cress
(Arabidopsis thaliana)
eudicotyledons AGD1 30
  • 42.84 (n)
rice
(Oryza sativa)
Liliopsida Os09g0510700 30
  • 44.04 (n)
sea squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for ACAP3: view image

Paralogs for ACAP3 Gene

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

  • ACAP3_HUMAN
  • F8W850_HUMAN
  • Q8N2W2_HUMAN
  • Q8WTZ1_HUMAN
genes like me logo Genes that share paralogs with ACAP3: view

Variants for ACAP3 Gene

Additional dbSNP identifiers (rs#s) for ACAP3 Gene

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)

Additional Variant Information for ACAP3 Gene

Human Gene Mutation Database (HGMD)
ACAP3
SNPedia medical, phenotypic, and genealogical associations of SNPs for
ACAP3

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for ACAP3 Gene

Disorders for ACAP3 Gene

MalaCards: The human disease database

(1) MalaCards diseases for ACAP3 Gene - From: DISEASES

Disorder Aliases PubMed IDs
recessive dystrophic epidermolysis bullosa
  • autosomal recessive dystrophic epidermolysis bullosa generalisata gravis
- elite association - COSMIC cancer census association via MalaCards
Search ACAP3 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for ACAP3

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with ACAP3: view

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

Publications for ACAP3 Gene

  1. ACAP3, the GTPase-activating protein specific to the small GTPase Arf6, regulates neuronal migration in the developing cerebral cortex. (PMID: 28919417) Miura Y … Kanaho Y (Biochemical and biophysical research communications 2017) 2 3 54
  2. ACAP3 regulates neurite outgrowth through its GAP activity specific to Arf6 in mouse hippocampal neurons. (PMID: 27330119) Miura Y … Kanaho Y (The Biochemical journal 2016) 2 3 54
  3. 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 SD … DREAM investigators (Diabetes care 2010) 3 41 54
  4. [CENTB5 gene expression in human and mouse]. (PMID: 19548526) Shubina DM … Patkin EL (Molekuliarnaia biologiia 2009) 3 23 54
  5. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4 54

Products for ACAP3 Gene

Sources for ACAP3 Gene