Aliases for ACAP1 Gene

Aliases for ACAP1 Gene

  • ArfGAP With Coiled-Coil, Ankyrin Repeat And PH Domains 1 2 3 5
  • Arf-GAP With Coiled-Coil, ANK Repeat And PH Domain-Containing Protein 1 3 4
  • Centaurin-Beta-1 3 4
  • KIAA0050 2 4
  • CENTB1 3 4
  • Cnt-B1 3 4
  • Arf GAP With Coiled Coil, ANK Repeat And PH Domains 1 3
  • Centaurin, Beta 1 2
  • ACAP1 5

External Ids for ACAP1 Gene

Previous HGNC Symbols for ACAP1 Gene

  • CENTB1

Previous GeneCards Identifiers for ACAP1 Gene

  • GC17P007181
  • GC17P007239
  • GC17P007133
  • GC17P007350
  • GC17P007352
  • GC17P007364

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. Diseases associated with ACAP1 include Ileum Cancer. Among its related pathways are Nucleotide-binding Oligomerization Domain (NOD) pathway and 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 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

Additional gene information for ACAP1 Gene

No data available for Entrez Gene Summary , CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for ACAP1 Gene

Genomics for ACAP1 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for ACAP1 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 ACAP1 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for ACAP1

Top Transcription factor binding sites by QIAGEN in the ACAP1 gene promoter:
  • AP-1
  • ATF-2
  • c-Jun
  • COUP
  • COUP-TF
  • COUP-TF1
  • HNF-4alpha1
  • HNF-4alpha2

Genomic Locations for ACAP1 Gene

Genomic Locations for ACAP1 Gene
chr17:7,336,506-7,354,944
(GRCh38/hg38)
Size:
18,439 bases
Orientation:
Plus strand
chr17:7,239,848-7,254,797
(GRCh37/hg19)
Size:
14,950 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.
    SequenceCaution:
    • Sequence=BAA06418.2; Type=Erroneous initiation; Note=Extended N-terminus.; Evidence={ECO:0000305};
    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.

    Three dimensional structures from OCA and Proteopedia for ACAP1 Gene

neXtProt entry for ACAP1 Gene

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 Lys40, Lys90, Lys114, Lys183, Lys185, Lys218, Lys248, Lys274, Lys522, and Lys558
  • 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

Gene Families for ACAP1 Gene

HGNC:
Human Protein Atlas (HPA):
  • Cancer-related genes
  • Plasma proteins
  • Predicted intracellular proteins

Protein Domains for ACAP1 Gene

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

Suggested Antigen Peptide Sequences for ACAP1 Gene

GenScript: Design optimal peptide antigens:
  • Centaurin-beta-1 (ACAP1_HUMAN)

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.
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.
genes like me logo Genes that share domains with ACAP1: view

Function for ACAP1 Gene

Molecular function for ACAP1 Gene

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.
UniProtKB/Swiss-Prot EnzymeRegulation:
GAP activity stimulated by phosphatidylinositol 4,5-bisphosphate (PIP2) and phosphatidic acid.

Phenotypes From GWAS Catalog for ACAP1 Gene

Gene Ontology (GO) - Molecular Function for ACAP1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005096 GTPase activator activity IEA --
GO:0005515 protein binding IPI 17474147
GO:0046872 metal ion binding IEA --
genes like me logo Genes that share ontologies with ACAP1: view
genes like me logo Genes that share phenotypes with ACAP1: view

Animal Models for ACAP1 Gene

MGI Knock Outs for ACAP1:
  • Acap1 Acap1<tm1.1(KOMP)Vlcg>

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ACAP1

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , 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
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 ACAP1 gene
Compartment Confidence
endosome 4
nucleus 3
cytosol 3
plasma membrane 2
extracellular 1
cytoskeleton 1
mitochondrion 1
endoplasmic reticulum 1
lysosome 1
golgi apparatus 1

Subcellular locations from the

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

Gene Ontology (GO) - Cellular Components for ACAP1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005768 endosome IEA --
GO:0016020 membrane IEA,HDA 19946888
GO:0055038 recycling endosome membrane IEA --
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

SIGNOR curated interactions for ACAP1 Gene

Other effect:

Gene Ontology (GO) - Biological Process for ACAP1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0015031 protein transport IEA --
GO:0043547 positive regulation of GTPase activity IEA --
genes like me logo Genes that share ontologies with ACAP1: view

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-Dipalmitoyl-3-sn-phosphatidic acid
  • 1,2-Dipalmitoyl-sn-glycerol-3-phosphate
  • 1,2-Dipalmitoyl-sn-glycerol-3-phosphoric acid
  • Dipalmitoyl phosphatidic acid
  • PA(32:0)
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))
  • (2R)-1-(Palmitoyloxy)-3-(phosphonooxy)propan-2-yl (9Z)-octadec-9-enoate
  • 1-Hexadecanoyl-2-(9Z-octadecenoyl)-sn-glycero-3-phosphate
  • 1-Hexadecanoyl-2-(9Z-octadecenoyl)-sn-glycerol 3-phosphate
  • 1-Hexadecanoyl-2-(9Z-octadecenoyl)-sn-phosphatidic acid
  • PA(16:0/18:1)
PA(16:0/18:2(9Z,12Z))
  • 1-16:0-2-18:2-Phosphatidic acid
  • 1-Palmitoyl-2-linoleoyl-sn-glycero-3-phosphate
  • 16:0-18:2-PA
  • 2-Linoleoyl-1-palmitoyl-sn-glycero-3-phosphate
  • PA(16:0/18:2)
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

mRNA/cDNA for ACAP1 Gene

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

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ACAP1

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

Expression for ACAP1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE 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, MaxQB, and MOPED for ACAP1 Gene



Protein tissue co-expression partners for ACAP1 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for ACAP1

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.

Evidence on tissue expression from TISSUES for ACAP1 Gene

  • Bone marrow(4.4)
  • Blood(2.6)
  • Intestine(2.5)
  • Lymph node(2.5)
  • Spleen(2.4)
  • Kidney(2)
  • Nervous system(2)
genes like me logo Genes that share expression patterns with ACAP1: view

No data available for Phenotype-based relationships between genes and organs from Gene ORGANizer for ACAP1 Gene

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 30 31
  • 98.65 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia ACAP1 30 31
  • 91.35 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Acap1 30 17 31
  • 87.84 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Acap1 30
  • 87.66 (n)
Dog
(Canis familiaris)
Mammalia ACAP1 30 31
  • 85.95 (n)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia ACAP1 31
  • 79 (a)
OneToOne
Zebrafish
(Danio rerio)
Actinopterygii acap1 30 31
  • 61.08 (n)
OneToOne
Fruit Fly
(Drosophila melanogaster)
Insecta cenB1A 31
  • 32 (a)
OneToMany
Worm
(Caenorhabditis elegans)
Secernentea cnt-1 31
  • 27 (a)
OneToMany
Baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes AGE1 31 33
  • 20 (a)
OneToMany
Sea Squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 32 (a)
OneToMany
Species where no ortholog for ACAP1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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 Vase (Ciona intestinalis)
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for ACAP1: view image

Paralogs for ACAP1 Gene

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

  • ACAP1_HUMAN
  • I3L0K9_HUMAN
  • I3L268_HUMAN
  • I3L2Z4_HUMAN
  • I3L3X6_HUMAN
genes like me logo Genes that share paralogs with ACAP1: view

Variants for ACAP1 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for ACAP1 Gene

SNP ID Clinical significance and condition Chr 17 pos Variation AA Info Type
787990 Benign: not provided 7,353,006(+) G/A MISSENSE_VARIANT
rs754740225 A colorectal cancer sample p.Arg129Gln
rs759855054 A breast cancer sample p.Lys114Arg
rs35019942 - p.Arg533Trp
rs35933585 - p.Arg68Cys

Additional dbSNP identifiers (rs#s) for ACAP1 Gene

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

Variant ID Type Subtype PubMed ID
esv2422288 CNV deletion 17116639
esv2671173 CNV deletion 23128226
esv3639867 CNV loss 21293372
nsv1143848 CNV deletion 24896259
nsv457659 CNV loss 19166990
nsv509650 CNV insertion 20534489
nsv574322 CNV loss 21841781
nsv952118 CNV deletion 24416366

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)

Additional Variant Information for ACAP1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
ACAP1

SNP Genotyping and Copy Number Assay Products

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

Disorders for ACAP1 Gene

MalaCards: The human disease database

(1) MalaCards diseases for ACAP1 Gene - From: DISEASES

Disorder Aliases PubMed IDs
ileum cancer
  • ileal neoplasm
- elite association - COSMIC cancer census association via MalaCards
Search ACAP1 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for ACAP1

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
genes like me logo Genes that share disorders with ACAP1: view

No data available for 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 TR … Randazzo PA (The Journal of cell biology 2000) 2 3 4 23
  2. An ACAP1-containing clathrin coat complex for endocytic recycling. (PMID: 17664335) Li J … Hsu VW (The Journal of cell biology 2007) 3 4 23
  3. Cooperation of phosphoinositides and BAR domain proteins in endosomal tubulation. (PMID: 17010122) Shinozaki-Narikawa N … Shibasaki Y (Traffic (Copenhagen, Denmark) 2006) 3 4 23
  4. Nitroproteins from a human pituitary adenoma tissue discovered with a nitrotyrosine affinity column and tandem mass spectrometry. (PMID: 16777052) Zhan X … Desiderio DM (Analytical biochemistry 2006) 3 4 23
  5. Mechanistic insights into regulated cargo binding by ACAP1 protein. (PMID: 22645133) Bai M … Hsu VW (The Journal of biological chemistry 2012) 3 4

Products for ACAP1 Gene

  • Signalway ELISA kits for ACAP1
  • Signalway Proteins for ACAP1

Sources for ACAP1 Gene