Gene Gene information from NCBI Gene database.
Entrez ID 116987
Gene name ArfGAP with GTPase domain, ankyrin repeat and PH domain 1
Gene symbol AGAP1
Synonyms (NCBI Gene)
AGAP-1CENTG2GGAP1cnt-g2
Chromosome 2
Chromosome location 2q37.2
Summary 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.
214
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 (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
14
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 identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
608651 16922 ENSG00000157985
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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  
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
6
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Cholangiocarcinoma Likely benign rs199745326 RCV005934787
Clear cell carcinoma of kidney Uncertain significance rs753970882 RCV005928467
Hepatocellular carcinoma Benign rs2278884 RCV005926980
Malignant lymphoma, large B-cell, diffuse Benign rs2278884 RCV005926981
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Autistic Disorder Associate 15892143
Cleft Palate Associate 34382870
Ovarian Neoplasms Associate 37577760