ACAP1 (ArfGAP with coiled-coil, ankyrin repeat and PH domains 1)

Gene
Gene Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
9744
Gene name Gene Name - the full gene name approved by the HGNC.
ArfGAP with coiled-coil, ankyrin repeat and PH domains 1
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
ACAP1
Synonyms (NCBI Gene) Gene synonyms aliases
CENTB1
Chromosome Chromosome number
17
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
17p13.1
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
Gene Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(10)
GO ID Ontology Definition Evidence Reference
GO:0005096 Function GTPase activator activity IEA
GO:0005515 Function Protein binding IPI 17474147, 25814554, 32296183, 32814053
GO:0005737 Component Cytoplasm IEA
GO:0005768 Component Endosome IEA
GO:0008270 Function Zinc ion binding IEA
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
607763 16467 ENSG00000072818
Protein
Gene Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID Q15027
Protein name Arf-GAP with coiled-coil, ANK repeat and PH domain-containing protein 1 (Centaurin-beta-1) (Cnt-b1)
Protein 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 endos
PDB 3JUE , 3T9K , 4CKG , 4CKH , 4F1P , 4NSW , 5H3D
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF16746 BAR_3 5 → 238 Domain
PF00169 PH 266 → 360 PH domain Domain
PF01412 ArfGap 405 → 523 Putative GTPase activating protein for Arf Domain
Tissue specificity TISSUE SPECIFICITY: Highest level in lung and spleen. Low level in heart, kidney, liver and pancreas. {ECO:0000269|PubMed:11062263}.
Sequence
Sequence length 740
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Gene Gene ontology Other IDs Protein Pathways Associated diseases
  KEGG  
  Endocytosis  
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Gene Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Unknown Diseases (2)
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Hypothyroidism Hypothyroidism N/A N/A GWAS
Systemic lupus erythematosus Systemic lupus erythematosus N/A N/A GWAS
Show/Hide Text Mining Associations (4)
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Anemia Sickle Cell Associate 17156400
Breast Neoplasms Associate 22302350
Meningomyelocele Associate 28735706
Urinary Bladder Neoplasms Associate 34112144