Gene Gene information from NCBI Gene database.
Entrez ID 3267
Gene name ArfGAP with FG repeats 1
Gene symbol AGFG1
Synonyms (NCBI Gene)
HRBRABRIP
Chromosome 2
Chromosome location 2q36.3
Summary The protein encoded by this gene is related to nucleoporins, a class of proteins that mediate nucleocytoplasmic transport. The encoded protein binds the activation domain of the human immunodeficiency virus Rev protein when Rev is assembled onto its RNA t
miRNA miRNA information provided by mirtarbase database.
629
miRTarBase ID miRNA Experiments Reference
MIRT027233 hsa-miR-103a-3p Sequencing 20371350
MIRT030393 hsa-miR-24-3p Microarray 19748357
MIRT040920 hsa-miR-18a-3p CLASH 23622248
MIRT087396 hsa-miR-3121-3p PAR-CLIP 20371350
MIRT087387 hsa-miR-18a-5p PAR-CLIP 20371350
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
25
GO ID Ontology Definition Evidence Reference
GO:0001675 Process Acrosome assembly IBA
GO:0001675 Process Acrosome assembly IEA
GO:0003677 Function DNA binding IEA
GO:0003723 Function RNA binding TAS 7634337
GO:0005096 Function GTPase activator activity IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
600862 5175 ENSG00000173744
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
P52594
Protein name Arf-GAP domain and FG repeat-containing protein 1 (HIV-1 Rev-binding protein) (Nucleoporin-like protein RIP) (Rev-interacting protein) (Rev/Rex activation domain-binding protein)
Protein function Required for vesicle docking or fusion during acrosome biogenesis (By similarity). May play a role in RNA trafficking or localization. In case of infection by HIV-1, acts as a cofactor for viral Rev and promotes movement of Rev-responsive elemen
PDB 2D9L , 2OLM , 2VX8
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF01412 ArfGap 14 130 Putative GTPase activating protein for Arf Domain
Tissue specificity TISSUE SPECIFICITY: Ubiquitously expressed. {ECO:0000269|PubMed:7634337}.
Sequence
MAASAKRKQEEKHLKMLRDMTGLPHNRKCFDCDQRGPTYVNMTVGSFVCTSCSGSLRGLN
PPHRVKSISMTTFTQQEIEFLQKHGNEVCKQIWLGLFDDRSSAIPDFRDPQKVKEFLQEK
YEKKRWYVPP
EQAKVVASVHASISGSSASSTSSTPEVKPLKSLLGDSAPTLHLNKGTPSQ
SPVVGRSQGQQQEKKQFDLLSDLGSDIFAAPAPQSTATANFANFAHFNSHAAQNSANADF
ANFDAFGQSSGSSNFGGFPTASHSPFQPQTTGGSAASVNANFAHFDNFPKSSSADFGTFN
TSQSHQTASAVSKVSTNKAGLQTADKYAALANLDNIFSAGQGGDQGSGFGTTGKAPVGSV
VSVPSQSSASSDKYAALAELDSVFSSAATSSNAYTSTSNASSNVFGTVPVVASAQTQPAS
SSVPAPFGATPSTNPFVAAAGPSVASSTNPFQTNARGATAATFGTASMSMPTGFGTPAPY
SLPTSFSGSFQQPAFPAQAAFPQQTAFSQQPNGAGFAAFGQTKPVVTPFGQVAAAGVSSN
PFMTGAPTGQFPTGSSSTNPFL
Sequence length 562
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  Reactome
    Cargo recognition for clathrin-mediated endocytosis
Clathrin-mediated endocytosis
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
1
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
LIVER CIRRHOSIS, EXPERIMENTAL CTD
★★☆☆☆
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
Albinism Albinism BEFREE 27931534
★☆☆☆☆
Found in Text Mining only
Amyotrophic Lateral Sclerosis Amyotrophic Lateral Sclerosis BEFREE 30741580
★☆☆☆☆
Found in Text Mining only
Aortic Dissection Aortic dissection Pubtator 35178459 Associate
★☆☆☆☆
Found in Text Mining only
Autism Spectrum Disorders Autism Spectrum Disorder BEFREE 31323913
★☆☆☆☆
Found in Text Mining only
Bladder Neoplasm Bladder Neoplasm BEFREE 22724020
★☆☆☆☆
Found in Text Mining only
Breast Carcinoma Breast Carcinoma BEFREE 17007882, 18641687, 20370918, 22920728, 24447584, 27255086, 28979817
★☆☆☆☆
Found in Text Mining only
Breast Neoplasms Breast neoplasm Pubtator 24447584, 32432324 Associate
★☆☆☆☆
Found in Text Mining only
Carcinoma Hepatocellular Hepatocellular carcinoma Pubtator 34401050 Associate
★☆☆☆☆
Found in Text Mining only
Carcinoma of bladder Bladder carcinoma BEFREE 22724020
★☆☆☆☆
Found in Text Mining only
Carcinoma Pancreatic Ductal Pancreatic ductal carcinoma Pubtator 32759795 Associate
★☆☆☆☆
Found in Text Mining only