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ASAP1 (ArfGAP with SH3 domain, ankyrin repeat and PH domain 1)

Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
50807
Gene nameGene Name - the full gene name approved by the HGNC.
ArfGAP with SH3 domain, ankyrin repeat and PH domain 1
Gene symbolGene Symbol - the official gene symbol approved by the HGNC, which is a short abbreviated form of the gene name.
ASAP1
SynonymsGene synonyms aliases
AMAP1, CENTB4, DDEF1, PAG2, PAP, ZG14P
ChromosomeChromosome number
8
Chromosome locationChromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
8q24.21-q24.22
SummarySummary 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
miRNAmiRNA 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 IDsOther ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM
HGNC
e!Ensembl
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
PathwaysPathway information has different metabolic/signaling pathways associated with genes. Each record is hyperlinked to a complete information page which also includes links to the KEGG/Reactome pathway database.
 
KEGG
 
Reactome
  Endocytosis
Fc gamma R-mediated phagocytosis
  VxPx cargo-targeting to cilium
Associated diseases
Causal
Disease name Disease term dbSNP ID References
Arthritis Juvenile arthritis rs1594890601, rs1594882933, rs184370809, rs776489319, rs1594883470 19565504
Schizophrenia Schizophrenia rs74315508, rs74315509, rs13447324, rs1558507406, rs387906932, rs387906933, rs863223354, rs863223355, rs776061422, rs863223349, rs748809996, rs759748655, rs863223353, rs863223350, rs863223356, rs781821239, rs863223348, rs863223346, rs863223347, rs863223351, rs863223352, rs61734270, rs797045205, rs869312829, rs869312830, rs770913157, rs869312832, rs869312831, rs781720548, rs1262969313 26198764
Unknown
Disease name Disease term dbSNP ID References
Urinary bladder cancer Malignant neoplasm of urinary bladder 26039340
Bladder neoplasm Bladder Neoplasm 26039340
Juvenile arthritis Juvenile psoriatic arthritis 19565504
Seronegative polyarthritis Polyarthritis, Juvenile, Rheumatoid Factor Negative 19565504

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