Human Gene ACAP1 (ENST00000158762.8_4) from GENCODE V47lift37
  Description: ArfGAP with coiled-coil, ankyrin repeat and PH domains 1 (from RefSeq NM_014716.4)
Gencode Transcript: ENST00000158762.8_4
Gencode Gene: ENSG00000072818.12_12
Transcript (Including UTRs)
   Position: hg19 chr17:7,239,848-7,254,796 Size: 14,949 Total Exon Count: 22 Strand: +
Coding Region
   Position: hg19 chr17:7,240,054-7,254,714 Size: 14,661 Coding Exon Count: 22 

Page IndexSequence and LinksUniProtKB CommentsPrimersCTDGene Alleles
RNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther SpeciesGO Annotations
mRNA DescriptionsOther NamesModel InformationMethods
Data last updated at UCSC: 2024-08-22 23:36:26

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr17:7,239,848-7,254,796)mRNA (may differ from genome)Protein (740 aa)
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BioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: ACAP1_HUMAN
DESCRIPTION: RecName: Full=Arf-GAP with coiled-coil, ANK repeat and PH domain-containing protein 1; AltName: Full=Centaurin-beta-1; Short=Cnt-b1;
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.
ENZYME REGULATION: GAP activity stimulated by phosphatidylinositol 4,5-bisphosphate (PIP2) and phosphatidic acid.
SUBUNIT: 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.
TISSUE SPECIFICITY: Highest level in lung and spleen. Low level in heart, kidney, liver and pancreas.
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.
PTM: 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.
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.
SIMILARITY: Contains 3 ANK repeats.
SIMILARITY: Contains 1 Arf-GAP domain.
SIMILARITY: Contains 1 BAR domain.
SIMILARITY: Contains 1 PH domain.
SEQUENCE CAUTION: Sequence=BAA06418.2; Type=Erroneous initiation;

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 99.38 RPKM in Whole Blood
Total median expression: 364.94 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
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-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -81.50206-0.396 Picture PostScript Text
3' UTR -23.5082-0.287 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR002110 - Ankyrin_rpt
IPR020683 - Ankyrin_rpt-contain_dom
IPR001164 - ArfGAP
IPR011993 - PH_like_dom
IPR001849 - Pleckstrin_homology
IPR000909 - PLipase_C_PInositol-sp_X_dom

Pfam Domains:
PF00169 - PH domain
PF01412 - Putative GTPase activating protein for Arf
PF12796 - Ankyrin repeats (3 copies)
PF16746 - BAR domain of APPL family

SCOP Domains:
140860 - Pseudo ankyrin repeat-like
103657 - BAR/IMD domain-like
50729 - PH domain-like
48403 - Ankyrin repeat
57863 - ArfGap/RecO-like zinc finger

Protein Data Bank (PDB) 3-D Structure
MuPIT help
3JUE - X-ray MuPIT 3T9K - X-ray MuPIT 4F1P - X-ray MuPIT


ModBase Predicted Comparative 3D Structure on Q15027
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The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologNo orthologNo orthologNo orthologNo ortholog
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-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0005096 GTPase activator activity
GO:0005515 protein binding
GO:0046872 metal ion binding

Biological Process:
GO:0015031 protein transport
GO:0043547 positive regulation of GTPase activity

Cellular Component:
GO:0005768 endosome
GO:0016020 membrane
GO:0055038 recycling endosome membrane


-  Descriptions from all associated GenBank mRNAs
  LF209153 - JP 2014500723-A/16656: Polycomb-Associated Non-Coding RNAs.
D30758 - Homo sapiens KIAA0050 mRNA.
BC018543 - Homo sapiens ArfGAP with coiled-coil, ankyrin repeat and PH domains 1, mRNA (cDNA clone MGC:16966 IMAGE:4342840), complete cds.
JD519494 - Sequence 500518 from Patent EP1572962.
JD399035 - Sequence 380059 from Patent EP1572962.
JD276913 - Sequence 257937 from Patent EP1572962.
JD122043 - Sequence 103067 from Patent EP1572962.
JD192013 - Sequence 173037 from Patent EP1572962.
AB383727 - Synthetic construct DNA, clone: pF1KSDA0050, Homo sapiens CENTB1 gene for centaurin-beta 1, complete cds, without stop codon, in Flexi system.
CU676264 - Synthetic construct Homo sapiens gateway clone IMAGE:100017478 5' read CENTB1 mRNA.
BT009788 - Homo sapiens centaurin, beta 1 mRNA, complete cds.
DQ891719 - Synthetic construct clone IMAGE:100004349; FLH179384.01X; RZPDo839F11130D centaurin, beta 1 (CENTB1) gene, encodes complete protein.
LF326449 - JP 2014500723-A/133952: Polycomb-Associated Non-Coding RNAs.
JD026879 - Sequence 7903 from Patent EP1572962.
JD057906 - Sequence 38930 from Patent EP1572962.
JD193926 - Sequence 174950 from Patent EP1572962.
MA562026 - JP 2018138019-A/133952: Polycomb-Associated Non-Coding RNAs.
MA444730 - JP 2018138019-A/16656: Polycomb-Associated Non-Coding RNAs.

-  Other Names for This Gene
  Alternate Gene Symbols: ACAP1_HUMAN, CENTB1, ENST00000158762.1, ENST00000158762.2, ENST00000158762.3, ENST00000158762.4, ENST00000158762.5, ENST00000158762.6, ENST00000158762.7, KIAA0050, NM_014716, Q15027, Q53XN9, uc317cca.1, uc317cca.2
UCSC ID: ENST00000158762.8_4
RefSeq Accession: NM_014716.4
Protein: Q15027 (aka ACAP1_HUMAN)

-  Gene Model Information
  Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.