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

Gene Gene information from NCBI Gene database.
Gene Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID 9744
Gene name ArfGAP with coiled-coil, ankyrin repeat and PH domains 1
Gene symbol ACAP1
Synonyms (NCBI Gene)
CENTB1
Chromosome 17
Chromosome location 17p13.1
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
10
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 identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
607763 16467 ENSG00000072818
Protein Protein information from UniProt database.
Gene Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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  
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
7
Gene Gene ontology Other IDs Protein Pathways Associated diseases
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Show/Hide Unknown Diseases (7)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
AUTOIMMUNE THYROID DISEASE — GWAS catalog
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Colorectal cancer Uncertain significance ClinVar
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
HYPOTHYROIDISM — GWAS catalog
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
SYSTEMIC LUPUS ERYTHEMATOSUS — GWAS catalog
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Show/Hide Text Mining Associations (7)
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Anemia Sickle Cell Sickle cell anemia Pubtator 17156400 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Breast Neoplasms Breast neoplasm Pubtator 22302350 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Colorectal Carcinoma Colorectal Cancer UNIPROT_DG
★★★★★
★☆☆☆☆
Found in Text Mining only
Hypothyroidism Hypothyroidism GWASCAT_DG 30595370
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Malignant neoplasm of breast Breast Cancer UNIPROT_DG
★★★★★
★☆☆☆☆
Found in Text Mining only
Meningomyelocele Meningomyelocele BEFREE 28735706
★★★★★
★☆☆☆☆
Found in Text Mining only
Urinary Bladder Neoplasms Urinary bladder neoplasms Pubtator 34112144 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only