Gene Gene information from NCBI Gene database.
Entrez ID 50807
Gene name ArfGAP with SH3 domain, ankyrin repeat and PH domain 1
Gene symbol ASAP1
Synonyms (NCBI Gene)
AMAP1CENTB4DDEF1PAG2PAPZG14P
Chromosome 8
Chromosome location 8q24.21-q24.22
Summary 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.
881
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 ImmunohistochemistryqRT-PCRWestern blot 24682952
MIRT441176 hsa-miR-493-3p HITS-CLIP 24374217
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
21
GO ID Ontology Definition Evidence Reference
GO:0000139 Component Golgi membrane IDA 25673879
GO:0002102 Component Podosome IBA
GO:0005096 Function GTPase activator activity IBA
GO:0005096 Function GTPase activator activity IEA
GO:0005515 Function Protein binding IPI 12029088, 15090612, 16636290, 17255943, 17474147, 18786926, 19380743, 20936779, 21706016, 21988832, 25673879, 28514442, 31980649, 33961781
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
605953 2720 ENSG00000153317
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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 associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
21
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
ALZHEIMER DISEASE GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ARTHRITIS, JUVENILE CTD
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ASTHMA GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
AUTISM SPECTRUM DISORDER GWAS catalog
★★☆☆☆
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
Amyotrophic Lateral Sclerosis Amyotrophic Lateral Sclerosis BEFREE 30050497
★☆☆☆☆
Found in Text Mining only
Androgen-Insensitivity Syndrome Androgen-Insensitivity Syndrome BEFREE 17481701
★☆☆☆☆
Found in Text Mining only
Atrial Fibrillation Atrial Fibrillation BEFREE 30373693
★☆☆☆☆
Found in Text Mining only
Bladder Neoplasm Bladder Neoplasm CTD_human_DG 26039340
★☆☆☆☆
Found in Text Mining only
Breast Carcinoma Breast Carcinoma BEFREE 15719014, 21858086, 27871329, 28834540
★☆☆☆☆
Found in Text Mining only
Breast Neoplasms Breast neoplasm Pubtator 17255943, 24621372, 32235890, 37762658 Associate
★☆☆☆☆
Found in Text Mining only
Carcinogenesis Carcinogenesis Pubtator 20187983 Associate
★☆☆☆☆
Found in Text Mining only
Carcinoma Hepatocellular Hepatocellular carcinoma Pubtator 36110251, 36550445 Associate
★☆☆☆☆
Found in Text Mining only
Carcinoma in situ of uterine cervix Cervical Intraepithelial Neoplasia BEFREE 11042905
★☆☆☆☆
Found in Text Mining only
Carcinoma Ovarian Epithelial Epithelial ovarian carcinoma Pubtator 24427349, 27667152 Associate
★☆☆☆☆
Found in Text Mining only