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Aliases for ACAP1 Gene

Aliases for ACAP1 Gene

  • ArfGAP With Coiled-Coil, Ankyrin Repeat And PH Domains 1 2 3 5
  • Centaurin, Beta 1 2 3
  • Centaurin-Beta-1 3 4
  • Cnt-B1 3 4
  • CENTB1 3 4
  • Arf GAP With Coiled Coil, ANK Repeat And PH Domains 1 3
  • KIAA0050 4

External Ids for ACAP1 Gene

Previous HGNC Symbols for ACAP1 Gene

  • CENTB1

Previous GeneCards Identifiers for ACAP1 Gene

  • GC17P007181
  • GC17P007239
  • GC17P007133

Summaries for ACAP1 Gene

GeneCards Summary for ACAP1 Gene

ACAP1 (ArfGAP With Coiled-Coil, Ankyrin Repeat And PH Domains 1) is a Protein Coding gene. Among its related pathways are Nucleotide-binding domain, leucine rich repeat containing receptor (NLR) signaling pathways and Endocytosis. GO annotations related to this gene include GTPase activator activity. An important paralog of this gene is ASAP3.

UniProtKB/Swiss-Prot for ACAP1 Gene

  • GTPase-activating protein (GAP) for ADP ribosylation factor 6 (ARF6) required for clathrin-dependent export of proteins from recycling endosomes to trans-Golgi network and cell surface. Required for regulated export of ITGB1 from recycling endosomes to the cell surface and ITGB1-dependent cell migration.

Gene Wiki entry for ACAP1 Gene

No data available for Entrez Gene Summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ACAP1 Gene

Genomics for ACAP1 Gene

Regulatory Elements for ACAP1 Gene

Promoters for ACAP1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around ACAP1 on UCSC Golden Path with GeneCards custom track

Genomic Location for ACAP1 Gene

Chromosome:
17
Start:
7,336,511 bp from pter
End:
7,351,478 bp from pter
Size:
14,968 bases
Orientation:
Plus strand

Genomic View for ACAP1 Gene

Genes around ACAP1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ACAP1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ACAP1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ACAP1 Gene

Proteins for ACAP1 Gene

  • Protein details for ACAP1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q15027-ACAP1_HUMAN
    Recommended name:
    Arf-GAP with coiled-coil, ANK repeat and PH domain-containing protein 1
    Protein Accession:
    Q15027
    Secondary Accessions:
    • Q53XN9

    Protein attributes for ACAP1 Gene

    Size:
    740 amino acids
    Molecular mass:
    81536 Da
    Quaternary structure:
    • Banana-shaped homodimer laterally assembling into tetramers, the tetramers further pack helically onto the membrane. Interacts with GTP-bound ARF6. Interacts with third cytoplasmic loop of SLC2A4/GLUT4. Interacts with CLTC. Interacts with GULP1. Forms a complex with GDP-bound ARF6 and GULP1. Interacts with ITGB1; required for ITGB1 recycling.
    Miscellaneous:
    • Cells overexpressing ACAP1 show an accumulation of ITGB1 in recycling endosomes and inhibition of stimulation-dependent cell migration. Cells with reduced levels of ACAP1 or AKT1 and AKT2 show inhibition of stimulation-dependent cell migration. Cells overexpressing ACAP1 and PIP5K1C show formation of tubular structures derived from endosomal membranes.
    SequenceCaution:
    • Sequence=BAA06418.2; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for ACAP1 Gene

neXtProt entry for ACAP1 Gene

Proteomics data for ACAP1 Gene at MOPED

Post-translational modifications for ACAP1 Gene

  • Phosphorylation at Ser-554 by PKB is required for interaction with ITGB1, export of ITGB1 from recycling endosomes to the cell surface and ITGB1-dependent cell migration.
  • Ubiquitination at Lys 40, Lys 90, Lys 114, Lys 183, Lys 185, Lys 218, Lys 248, Lys 274, Lys 522, and Lys 558
  • Modification sites at PhosphoSitePlus

Other Protein References for ACAP1 Gene

No data available for DME Specific Peptides for ACAP1 Gene

Domains & Families for ACAP1 Gene

Suggested Antigen Peptide Sequences for ACAP1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q15027

UniProtKB/Swiss-Prot:

ACAP1_HUMAN :
  • PH domain binds phospholipids including phosphatidic acid, phosphatidylinositol 3-phosphate, phosphatidylinositol 3,5-bisphosphate (PIP2) and phosphatidylinositol 3,4,5-trisphosphate (PIP3). May mediate ACAP1-binding to PIP2 or PIP3 containing membranes. Only one PH domain of one ACAP1 dimer inserts into the membrane, while the other PH domain acts primaryly to interact with adjacent ACAP1 dimers.
  • Contains 3 ANK repeats.
Domain:
  • PH domain binds phospholipids including phosphatidic acid, phosphatidylinositol 3-phosphate, phosphatidylinositol 3,5-bisphosphate (PIP2) and phosphatidylinositol 3,4,5-trisphosphate (PIP3). May mediate ACAP1-binding to PIP2 or PIP3 containing membranes. Only one PH domain of one ACAP1 dimer inserts into the membrane, while the other PH domain acts primaryly to interact with adjacent ACAP1 dimers.
  • The BAR domain mediates homodimerization, it can neither bind membrane nor impart curvature, but instead requires the neighboring PH domain to achieve these functions.
  • Contains 1 Arf-GAP domain.
  • Contains 1 BAR domain.
  • Contains 1 PH domain.
Similarity:
  • Contains 3 ANK repeats.
genes like me logo Genes that share domains with ACAP1: view

Function for ACAP1 Gene

Molecular function for ACAP1 Gene

UniProtKB/Swiss-Prot EnzymeRegulation:
GAP activity stimulated by phosphatidylinositol 4,5-bisphosphate (PIP2) and phosphatidic acid.
UniProtKB/Swiss-Prot Function:
GTPase-activating protein (GAP) for ADP ribosylation factor 6 (ARF6) required for clathrin-dependent export of proteins from recycling endosomes to trans-Golgi network and cell surface. Required for regulated export of ITGB1 from recycling endosomes to the cell surface and ITGB1-dependent cell migration.
genes like me logo Genes that share phenotypes with ACAP1: view

Animal Model Products

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 , miRNA , Transcription Factor Targets and HOMER Transcription for ACAP1 Gene

Localization for ACAP1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for ACAP1 Gene

Recycling endosome membrane; Peripheral membrane protein; Cytoplasmic side.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for ACAP1 Gene COMPARTMENTS Subcellular localization image for ACAP1 gene
Compartment Confidence
endosome 4
cytosol 3
nucleus 3
plasma membrane 1

Gene Ontology (GO) - Cellular Components for ACAP1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0016020 membrane IDA 19946888
genes like me logo Genes that share ontologies with ACAP1: view

Pathways & Interactions for ACAP1 Gene

genes like me logo Genes that share pathways with ACAP1: view

Pathways by source for ACAP1 Gene

3 BioSystems pathways for ACAP1 Gene
1 KEGG pathway for ACAP1 Gene

SIGNOR curated interactions for ACAP1 Gene

Other effect:

Gene Ontology (GO) - Biological Process for ACAP1 Gene

None

Drugs & Compounds for ACAP1 Gene

(1) Drugs for ACAP1 Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Guanosine triphosphate Experimental Pharma 0

(391) Additional Compounds for ACAP1 Gene - From: HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
PA(16:0/16:0)
  • 1,2-Di-O-palmitoyl-3-sn-glyceryl-O-phosphorate
  • 1,2-Di-O-palmitoyl-3-sn-glyceryl-O-phosphoric acid
  • 1,2-Dihexadecanoyl-rac-phosphatidic acid
  • 1,2-Dipalmitoyl-3-sn-phosphatidate
  • 1,2-Dipalmitoyl-3-sn-phosphatidic acid
7091-44-3
PA(16:0/18:1(11Z))
  • 1-Hexadecanoyl-2-(11Z-octadecenoyl)-sn-phosphatidic acid
  • 1-Palmitoyl-2-vaccenoyl-sn-glycero-3-phosphate
  • PA(16:0/18:1)
  • PA(16:0/18:1n7)
  • PA(16:0/18:1w7)
PA(16:0/18:1(9Z))
  • 1-Hexadecanoyl-2-(9Z-octadecenoyl)-sn-phosphatidic acid
  • 1-Palmitoyl-2-oleoyl-sn-glycero-3-phosphate
  • PA(16:0/18:1)
  • PA(16:0/18:1n9)
  • PA(16:0/18:1w9)
PA(16:0/18:2(9Z,12Z))
  • 1-Hexadecanoyl-2-(9Z,12Z-octadecadienoyl)-sn-phosphatidic acid
  • 1-Palmitoyl-2-linoleoyl-sn-glycero-3-phosphate
  • PA(16:0/18:2)
  • PA(16:0/18:2n6)
  • PA(16:0/18:2w6)
PA(16:0e/18:0)
  • 2-Octadecanoyl-1-hexadecyl-sn-glycero-3-phosphate
  • PA(O-16:0/18:0)
genes like me logo Genes that share compounds with ACAP1: view

Transcripts for ACAP1 Gene

Unigene Clusters for ACAP1 Gene

ArfGAP with coiled-coil, ankyrin repeat and PH domains 1:
Representative Sequences:

Inhibitory RNA Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for ACAP1 Gene

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

ExUns: 22b ^ 23
SP1:
SP2:
SP3:
SP4:
SP5:
SP6:
SP7:
SP8:

Relevant External Links for ACAP1 Gene

GeneLoc Exon Structure for
ACAP1
ECgene alternative splicing isoforms for
ACAP1

Expression for ACAP1 Gene

mRNA expression in normal human tissues for ACAP1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for ACAP1 Gene

This gene is overexpressed in Whole Blood (x26.9) and Spleen (x6.0).

Protein differential expression in normal tissues from HIPED for ACAP1 Gene

This gene is overexpressed in Lymph node (23.4), Peripheral blood mononuclear cells (15.9), Tlymphocyte (6.9), and Blymphocyte (6.2).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MOPED, and MaxQB for ACAP1 Gene



SOURCE GeneReport for Unigene cluster for ACAP1 Gene Hs.337242

mRNA Expression by UniProt/SwissProt for ACAP1 Gene

Q15027-ACAP1_HUMAN
Tissue specificity: Highest level in lung and spleen. Low level in heart, kidney, liver and pancreas.
genes like me logo Genes that share expression patterns with ACAP1: view

Protein tissue co-expression partners for ACAP1 Gene

- Elite partner

Primer Products

In Situ Assay Products

Orthologs for ACAP1 Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for ACAP1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia ACAP1 36
  • 99 (a)
OneToOne
ACAP1 35
  • 98.65 (n)
  • 98.26 (a)
cow
(Bos Taurus)
Mammalia ACAP1 35
  • 91.35 (n)
  • 94.32 (a)
ACAP1 36
  • 94 (a)
OneToOne
dog
(Canis familiaris)
Mammalia ACAP1 36
  • 90 (a)
OneToOne
ACAP1 35
  • 85.95 (n)
  • 87.84 (a)
mouse
(Mus musculus)
Mammalia Acap1 16
Acap1 36
  • 93 (a)
OneToOne
Acap1 35
  • 87.84 (n)
  • 93.11 (a)
oppossum
(Monodelphis domestica)
Mammalia ACAP1 36
  • 79 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Acap1 35
  • 87.66 (n)
  • 92.3 (a)
zebrafish
(Danio rerio)
Actinopterygii acap1 36
  • 56 (a)
OneToOne
acap1 35
  • 61.08 (n)
  • 59.62 (a)
fruit fly
(Drosophila melanogaster)
Insecta cenB1A 36
  • 32 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea cnt-1 36
  • 27 (a)
OneToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes AGE1 36
  • 20 (a)
OneToMany
AGE1 38
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 32 (a)
OneToMany
Species with no ortholog for ACAP1:
  • 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)
  • chicken (Gallus gallus)
  • 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)
  • lizard (Anolis carolinensis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • 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)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)

Evolution for ACAP1 Gene

ENSEMBL:
Gene Tree for ACAP1 (if available)
TreeFam:
Gene Tree for ACAP1 (if available)

Paralogs for ACAP1 Gene

(2) SIMAP similar genes for ACAP1 Gene using alignment to 5 proteins:

genes like me logo Genes that share paralogs with ACAP1: view

Variants for ACAP1 Gene

Sequence variations from dbSNP and Humsavar for ACAP1 Gene

SNP ID Clin Chr 17 pos Sequence Context AA Info Type
rs3809824 -- 7,334,809(+) TGAGA(A/G)CCTGG upstream-variant-2KB
rs3809827 -- 7,336,592(+) GAAAG(A/G)ATTGT nc-transcript-variant, utr-variant-5-prime
rs3809828 -- 7,343,532(+) GGGTA(C/T)CGGGG nc-transcript-variant, reference, synonymous-codon
rs3809829 -- 7,343,621(+) AGGCT(G/T)GGGGG intron-variant
rs2292067 -- 7,348,829(+) CATAC(G/T)CATAC intron-variant

Structural Variations from Database of Genomic Variants (DGV) for ACAP1 Gene

Variant ID Type Subtype PubMed ID
esv2422288 CNV Deletion 17116639
nsv457659 CNV Loss 19166990
dgv3053n71 CNV Loss 21882294
nsv907641 CNV Loss 21882294
nsv509650 CNV Insertion 20534489
nsv907642 CNV Loss 21882294
esv2671173 CNV Deletion 23128226
nsv907643 CNV Loss 21882294

Variation tolerance for ACAP1 Gene

Residual Variation Intolerance Score: 58.2% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 4.61; 65.38% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for ACAP1 Gene

HapMap Linkage Disequilibrium report
ACAP1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ACAP1 Gene

Disorders for ACAP1 Gene

Relevant External Links for ACAP1

Genetic Association Database (GAD)
ACAP1
Human Genome Epidemiology (HuGE) Navigator
ACAP1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
ACAP1

No disorders were found for ACAP1 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for ACAP1 Gene

Publications for ACAP1 Gene

  1. ACAPs are arf6 GTPase-activating proteins that function in the cell periphery. (PMID: 11062263) Jackson T.R. … Randazzo P.A. (J. Cell Biol. 2000) 2 3 4 23 67
  2. An ACAP1-containing clathrin coat complex for endocytic recycling. (PMID: 17664335) Li J. … Hsu V.W. (J. Cell Biol. 2007) 3 23
  3. Nitroproteins from a human pituitary adenoma tissue discovered with a nitrotyrosine affinity column and tandem mass spectrometry. (PMID: 16777052) Zhan X. … Desiderio D.M. (Anal. Biochem. 2006) 3 23
  4. Centaurin beta1 down-regulates nucleotide-binding oligomerization domains 1- and 2-dependent NF-kappaB activation. (PMID: 17005562) Yamamoto-Furusho J.K. … Podolsky D.K. (J. Biol. Chem. 2006) 3 23
  5. Cooperation of phosphoinositides and BAR domain proteins in endosomal tubulation. (PMID: 17010122) Shinozaki-Narikawa N. … Shibasaki Y. (Traffic 2006) 3 23

Products for ACAP1 Gene

Sources for ACAP1 Gene

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