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.
|
|
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 |
|
GO:0005547 |
Function |
Phosphatidylinositol-3,4,5-trisphosphate binding |
IEA |
|
GO:0005829 |
Component |
Cytosol |
TAS |
|
GO:0031253 |
Component |
Cell projection membrane |
IBA |
21873635 |
GO:0043197 |
Component |
Dendritic spine |
IEA |
|
GO:0043547 |
Process |
Positive regulation of GTPase activity |
IEA |
|
GO:0045296 |
Function |
Cadherin binding |
HDA |
25468996 |
GO:0046872 |
Function |
Metal ion binding |
IEA |
|
GO:0060271 |
Process |
Cilium assembly |
IBA |
21873635 |
GO:0060271 |
Process |
Cilium assembly |
IMP |
20393563 |
GO:0061000 |
Process |
Negative regulation of dendritic spine development |
IEA |
|
GO:0071803 |
Process |
Positive regulation of podosome assembly |
IBA |
21873635 |
GO:1903527 |
Process |
Positive regulation of membrane tubulation |
IBA |
21873635 |
|
Other IDsOther ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
|
|
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 |
|
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.
|
|
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 |
Polyarthritis, rheumatoid factor positive |
Polyarthritis, Juvenile, Rheumatoid Factor Positive |
|
19565504 |
Progressive supranuclear palsy |
Progressive supranuclear palsy |
|
30089514 |
Still disease |
Juvenile-Onset Still Disease |
|
19565504 |
|