Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
50807
Gene name Gene Name - the full gene name approved by the HGNC.
ArfGAP with SH3 domain, ankyrin repeat and PH domain 1
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
ASAP1
Synonyms (NCBI Gene) Gene synonyms aliases
AMAP1, CENTB4, DDEF1, PAG2, PAP, ZG14P
Chromosome Chromosome number
8
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
8q24.21-q24.22
Summary Summary of gene provided in NCBI Entrez Gene.
This gene encodes an ADP-ribosylation factor (ARF) GTPase-activating protein. The GTPase-activating activity is stimulated by phosphatidylinositol 4,5-biphosphate (PIP2), and is greater towards ARF1 and ARF5, and lesser for ARF6. This gene maybe involved
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT027690 hsa-miR-98-5p Microarray 19088304
MIRT028337 hsa-miR-32-5p Sequencing 20371350
MIRT044301 hsa-miR-106b-5p CLASH 23622248
MIRT053162 hsa-miR-203a-3p Immunohistochemistry, qRT-PCR, Western blot 24682952
MIRT441176 hsa-miR-493-3p HITS-CLIP 24374217
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0001786 Function Phosphatidylserine binding IEA
GO:0002102 Component Podosome IBA 21873635
GO:0005096 Function GTPase activator activity IBA 21873635
GO:0005515 Function Protein binding IPI 12029088, 15090612, 16636290, 17255943, 17474147, 18786926, 19380743, 20936779, 21706016, 21988832, 28514442, 31980649
GO:0005546 Function Phosphatidylinositol-4,5-bisphosphate binding IEA
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
605953 2720 ENSG00000153317
Protein
UniProt ID Q9ULH1
Protein name Arf-GAP with SH3 domain, ANK repeat and PH domain-containing protein 1 (130 kDa phosphatidylinositol 4,5-bisphosphate-dependent ARF1 GTPase-activating protein) (ADP-ribosylation factor-directed GTPase-activating protein 1) (ARF GTPase-activating protein 1
Protein function Possesses phosphatidylinositol 4,5-bisphosphate-dependent GTPase-activating protein activity for ARF1 (ADP ribosylation factor 1) and ARF5 and a lesser activity towards ARF6. May coordinate membrane trafficking with cell growth or actin cytoskel
PDB 2D1X , 2DA0 , 2ED1 , 2RQT , 2RQU
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF16746 BAR_3 52 286 Domain
PF00169 PH 325 416 PH domain Domain
PF01412 ArfGap 439 556 Putative GTPase activating protein for Arf Domain
PF12796 Ank_2 576 669 Ankyrin repeats (3 copies) Repeat
PF12796 Ank_2 605 698 Ankyrin repeats (3 copies) Repeat
PF00018 SH3_1 1073 1121 SH3 domain Domain
Sequence
MRSSASRLSSFSSRDSLWNRMPDQISVSEFIAETTEDYNSPTTSSFTTRLHNCRNTVTLL
EEALDQDRTALQKVKKSVKAIYNSGQDHVQNEENYAQVLDKFGSNFLSRDNPDLGTAFVK
FSTLTKELSTLLKNLLQGLSHNVIFTLDSLLKGDLKGVKGDLKKPFDKAWKDYETKFTKI
EKEKREHAKQHGMIRTEITGAEIAEEMEKERRLFQLQMCEYLIKVNEIKTKKGVDLLQNL
IKYYHAQCNFFQDGLKTADKLKQYIEKLAADLYNIKQTQDEEKKQL
TALRDLIKSSLQLD
QKEDSQSRQGGYSMHQLQGNKEYGSEKKGYLLKKSDGIRKVWQRRKCSVKNGILTISHAT
SNRQPAKLNLLTCQVKPNAEDKKSFDLISHNRTYHFQAEDEQDYVAWISVLTNSKE
EALT
MAFRGEQSAGENSLEDLTKAIIEDVQRLPGNDICCDCGSSEPTWLSTNLGILTCIECSGI
HREMGVHISRIQSLELDKLGTSELLLAKNVGNNSFNDIMEANLPSPSPKPTPSSDMTVRK
EYITAKYVDHRFSRKT
CSTSSAKLNELLEAIKSRDLLALIQVYAEGVELMEPLLEPGQEL
GETA
LHLAVRTADQTSLHLVDFLVQNCGNLDKQTALGNTVLHYCSMYSKPECLKLLLRSK
PTVDIVNQA
GETALDIAKRLKATQCEDLLSQAKSGKFN
PHVHVEYEWNLRQEEIDESDDD
LDDKPSPIKKERSPRPQSFCHSSSISPQDKLALPGFSTPRDKQRLSYGAFTNQIFVSTST
DSPTSPTTEAPPLPPRNAGKGPTGPPSTLPLSTQTSSGSSTLSKKRPPPPPPGHKRTLSD
PPSPLPHGPPNKGAVPWGNDGGPSSSSKTTNKFEGLSQQSSTSSAKTALGPRVLPKLPQK
VALRKTDHLSLDKATIPPEIFQKSSQLAELPQKPPPGDLPPKPTELAPKPQIGDLPPKPG
ELPPKPQLGDLPPKPQLSDLPPKPQMKDLPPKPQLGDLLAKSQTGDVSPKAQQPSEVTLK
SHPLDLSPNVQSRDAIQKQASEDSNDLTPTLPETPVPLPRKINTGKNKVRRVKTIYDCQA
DNDDELTFIEGEVIIVTGEEDQEWWIGHIEGQPERKGVFPV
SFVHILSD
Sequence length 1129
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG   Reactome
  Endocytosis
Fc gamma R-mediated phagocytosis
  VxPx cargo-targeting to cilium
Associated diseases Disease information provided by ClinVar, GenCC, and GWAS databases.
Causal
Disease term Disease name dbSNP ID References
Arthritis Juvenile arthritis rs1594890601, rs1594882933, rs184370809, rs776489319, rs1594883470 19565504
Schizophrenia Schizophrenia rs13447324, rs387906932, rs387906933, rs863223354, rs863223355, rs776061422, rs863223349, rs748809996, rs759748655, rs863223353, rs863223350, rs863223356, rs781821239, rs863223348, rs863223346
View all (12 more)
26198764
Unknown
Disease term Disease name Evidence References Source
Multiple Sclerosis Multiple Sclerosis GWAS
Colorectal Cancer Colorectal Cancer In summary, our data strongly demonstrated that upregulation of GRB7 conferred MEKi resistance in CRC cells with KRAS mutations by mediating RTK signaling through the recruitment of PLK1. GWAS, CBGDA
Progressive Supranuclear Palsy Progressive Supranuclear Palsy GWAS
Dementia Dementia GWAS
Associations from Text Mining
Disease Name Relationship Type References
Breast Neoplasms Associate 17255943, 24621372, 32235890, 37762658
Carcinogenesis Associate 20187983
Carcinoma Hepatocellular Associate 36110251, 36550445
Carcinoma Non Small Cell Lung Associate 29364481
Carcinoma Ovarian Epithelial Associate 24427349, 27667152
Colorectal Neoplasms Associate 15750208
Glioblastoma Associate 32926734
Hepatoblastoma Associate 27910913
Intervertebral Disc Degeneration Associate 35069789
Lupus Erythematosus Systemic Inhibit 39473004