Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
116987
Gene name Gene Name - the full gene name approved by the HGNC.
ArfGAP with GTPase domain, ankyrin repeat and PH domain 1
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
AGAP1
Synonyms (NCBI Gene) Gene synonyms aliases
AGAP-1, CENTG2, GGAP1, cnt-g2
Chromosome Chromosome number
2
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
2q37.2
Summary Summary of gene provided in NCBI Entrez Gene.
This gene encodes a member of an ADP-ribosylation factor GTPase-activating protein family involved in membrane trafficking and cytoskeleton dynamics. This gene functions as a direct regulator of the adaptor-related protein complex 3 on endosomes. Multiple
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT024193 hsa-miR-221-3p Sequencing 20371350
MIRT043133 hsa-miR-324-5p CLASH 23622248
MIRT036541 hsa-miR-1225-3p CLASH 23622248
MIRT689071 hsa-miR-181d-3p HITS-CLIP 23313552
MIRT689070 hsa-miR-5193 HITS-CLIP 23313552
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0000166 Function Nucleotide binding IEA
GO:0003924 Function GTPase activity IBA
GO:0003924 Function GTPase activity IEA
GO:0005096 Function GTPase activator activity IBA
GO:0005096 Function GTPase activator activity IEA
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
608651 16922 ENSG00000157985
Protein
UniProt ID Q9UPQ3
Protein name Arf-GAP with GTPase, ANK repeat and PH domain-containing protein 1 (AGAP-1) (Centaurin-gamma-2) (Cnt-g2) (GTP-binding and GTPase-activating protein 1) (GGAP1)
Protein function GTPase-activating protein for ARF1 and, to a lesser extent, ARF5. Directly and specifically regulates the adapter protein 3 (AP-3)-dependent trafficking of proteins in the endosomal-lysosomal system.
PDB 7EB6
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00071 Ras 73 231 Ras family Domain
PF01412 ArfGap 609 725 Putative GTPase activating protein for Arf Domain
PF12796 Ank_2 736 830 Ankyrin repeats (3 copies) Repeat
Tissue specificity TISSUE SPECIFICITY: Widely expressed. {ECO:0000269|PubMed:12388557, ECO:0000269|PubMed:12640130, ECO:0000269|PubMed:15381706, ECO:0000269|PubMed:16079295}.
Sequence
MNYQQQLANSAAIRAEIQRFESVHPNIYSIYELLERVEEPVLQNQIREHVIAIEDAFVNS
QEWTLSRSVPELKVGIVGNLASGKSALVHRYLTGTYVQEESPEGGRFKKEIVVDGQSYLL
LIRDEGGPPEAQFAMWVDAVIFVFSLEDEISFQTVYHYYSRMANYRNTSEIPLVLVGTQD
AISSANPRVIDDARARKLSNDLKRCTYYETCATYGLNVERVFQDVAQKIVA
TRKKQQLSI
GPCKSLPNSPSHSSVCSAQVSAVHISQTSNGGGSLSDYSSSVPSTPSTSQKELRIDVPPT
ANTPTPVRKQSKRRSNLFTSRKGSDPDKEKKGLESRADSIGSGRAIPIKQGMLLKRSGKS
LNKEWKKKYVTLCDNGVLTYHPSLHDYMQNVHGKEIDLLRTTVKVPGKRPPRATSACAPI
SSPKTNGLSKDMSSLHISPNSGNVTSASGSQMASGISLVSFNSRPDGMHQRSYSVSSADQ
WSEATVIANSAISSDTGLGDSVCSSPSISSTTSPKLDPPPSPHANRKKHRRKKSTSNFKA
DGLSGTAEEQEENFEFIIVSLTGQTWHFEATTYEERDAWVQAIESQILASLQSCESSKNK
SRLTSQSEAMALQSIRNMRGNSHCVDCETQNPNWASLNLGALMCIECSGIHRNLGTHLSR
VRSLDLDDWPVELIKVMSSIGNELANSVWEESSQGRTKPSVDSTREEKERWIRAKYEQKL
FLAPL
PCTELSLGQHLLRATADEDLRTAILLLAHGSRDEVNETCGEGDGRTALHLACRKG
NVVLAQLLIWYGVDVTARDAHGNTALAYARQASSQECIDVLLQYGCPDER
FVLMATPNLS
RRNNNRNNSSGRVPTII
Sequence length 857
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  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)
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
Dementia Dementia N/A N/A GWAS
Insomnia Insomnia N/A N/A GWAS
Ischemic Stroke Ischemic stroke N/A N/A GWAS
Metabolic Syndrome Metabolic syndrome N/A N/A GWAS
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Autistic Disorder Associate 15892143
Cleft Palate Associate 34382870
Ovarian Neoplasms Associate 37577760