Gene Gene information from NCBI Gene database.
Entrez ID 55738
Gene name ARF GTPase activating protein 1
Gene symbol ARFGAP1
Synonyms (NCBI Gene)
ARF1GAPHRIHFB2281
Chromosome 20
Chromosome location 20q13.33
Summary The protein encoded by this gene is a GTPase-activating protein, which associates with the Golgi apparatus and which interacts with ADP-ribosylation factor 1. The encoded protein promotes hydrolysis of ADP-ribosylation factor 1-bound GTP and is required f
miRNA miRNA information provided by mirtarbase database.
154
miRTarBase ID miRNA Experiments Reference
MIRT047930 hsa-miR-30c-5p CLASH 23622248
MIRT042628 hsa-miR-423-3p CLASH 23622248
MIRT038909 hsa-miR-93-3p CLASH 23622248
MIRT792746 hsa-miR-1343 CLIP-seq
MIRT792747 hsa-miR-1908 CLIP-seq
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
15
GO ID Ontology Definition Evidence Reference
GO:0000139 Component Golgi membrane IBA
GO:0005096 Function GTPase activator activity IBA
GO:0005096 Function GTPase activator activity IDA 22423108
GO:0005096 Function GTPase activator activity IEA
GO:0005515 Function Protein binding IPI 22363216, 25416956, 25910212, 32296183, 32814053
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
608377 15852 ENSG00000101199
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q8N6T3
Protein name ADP-ribosylation factor GTPase-activating protein 1 (ARF GAP 1) (ADP-ribosylation factor 1 GTPase-activating protein) (ARF1 GAP) (ARF1-directed GTPase-activating protein)
Protein function GTPase-activating protein (GAP) for the ADP ribosylation factor 1 (ARF1). Involved in membrane trafficking and /or vesicle transport. Promotes hydrolysis of the ARF1-bound GTP and thus, is required for the dissociation of coat proteins from Golg
PDB 3DWD , 3O47
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF01412 ArfGap 7 120 Putative GTPase activating protein for Arf Domain
Sequence
MASPRTRKVLKEVRVQDENNVCFECGAFNPQWVSVTYGIWICLECSGRHRGLGVHLSFVR
SVTMDKWKDIELEKMKAGGNAKFREFLESQEDYDPCWSLQEKYNSRAAALFRDKVVALAE

GREWSLESSPAQNWTPPQPRTLPSMVHRVSGQPQSVTASSDKAFEDWLNDDLGSYQGAQG
NRYVGFGNTPPPQKKEDDFLNNAMSSLYSGWSSFTTGASRFASAAKEGATKFGSQASQKA
SELGHSLNENVLKPAQEKVKEGKIFDDVSSGVSQLASKVQGVGSKGWRDVTTFFSGKAEG
PLDSPSEGHSYQNSGLDHFQNSNIDQSFWETFGSAEPTKTRKSPSSDSWTCADTSTERRS
SDSWEVWGSASTNRNSNSDGGEGGEGTKKAVPPAVPTDDGWDNQNW
Sequence length 406
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  Endocytosis   XBP1(S) activates chaperone genes
COPI-mediated anterograde transport
COPI-dependent Golgi-to-ER retrograde traffic
Clathrin-mediated endocytosis
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
3
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)
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
DEVELOPMENTAL DISABILITIES CTD, Disgenet
CTD, Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
NERVOUS SYSTEM DISEASES CTD
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
NERVOUS SYSTEM DISORDER Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Child Development Deviations Development Disorder CTD_human_DG 20805988
★☆☆☆☆
Found in Text Mining only
Child Development Disorders, Specific Development Disorder CTD_human_DG 20805988
★☆☆☆☆
Found in Text Mining only
Colorectal Carcinoma Colorectal Cancer BEFREE 23752192
★☆☆☆☆
Found in Text Mining only
Developmental Disabilities Development Disorder CTD_human_DG 20805988
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Neoplasms Neoplasms BEFREE 23752192
★☆☆☆☆
Found in Text Mining only
nervous system disorder Nervous System Disorder CTD_human_DG 20805988
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Parkinson Disease Parkinson disease BEFREE 22363216
★☆☆☆☆
Found in Text Mining only
Parkinson Disease Parkinson disease Pubtator 22363216, 36593912 Associate
★☆☆☆☆
Found in Text Mining only
Venous Thromboembolism Venous thromboembolism Pubtator 28011674 Associate
★☆☆☆☆
Found in Text Mining only