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Gene Gene information from NCBI Gene database.
Entrez ID 55616
Gene name ArfGAP with SH3 domain, ankyrin repeat and PH domain 3
Gene symbol ASAP3
Synonyms (NCBI Gene)
ACAP4CENTB6DDEFL1UPLC1
Chromosome 1
Chromosome location 1p36.12
Summary This gene encodes a member of a subfamily of ADP-ribosylation factor(Arf) GTPase-activating proteins that contain additional ankyrin repeat and pleckstrin homology domains. The Arf GAP domain of this protein catalyzes the hydrolysis of GTP bound to Arf pr
miRNA miRNA information provided by mirtarbase database.
299 Show/Hide all (299)
miRTarBase ID miRNA Experiments Reference
MIRT018191 hsa-miR-335-5p Microarray 18185580
MIRT539081 hsa-miR-3667-5p PAR-CLIP 22012620
MIRT539080 hsa-miR-548ao-3p PAR-CLIP 22012620
MIRT539078 hsa-miR-6814-5p PAR-CLIP 22012620
MIRT539079 hsa-miR-208a-3p PAR-CLIP 22012620
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
20 Show/Hide all (20)
GO ID Ontology Definition Evidence Reference
GO:0001726 Component Ruffle IBA
GO:0001726 Component Ruffle IDA 18400762
GO:0005096 Function GTPase activator activity IBA
GO:0005096 Function GTPase activator activity IDA 18400762
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
616594 14987 ENSG00000088280
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q8TDY4
Protein name Arf-GAP with SH3 domain, ANK repeat and PH domain-containing protein 3 (Development and differentiation-enhancing factor-like 1) (Protein up-regulated in liver cancer 1)
Protein function Promotes cell proliferation.
PDB 2B0O , 3LVQ , 3LVR
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00169 PH 303 → 394 PH domain Domain
PF01412 ArfGap 426 → 544 Putative GTPase activating protein for Arf Domain
PF12796 Ank_2 590 → 682 Ankyrin repeats (3 copies) Repeat
PF16746 BAR_3 32 → 261 Domain
Tissue specificity TISSUE SPECIFICITY: Highly expressed in primary hepatocarcinoma. Detected in lung, liver and blood leukocytes. {ECO:0000269|PubMed:14654939}.
Sequence
MPEQFSVAEFLAVTAEDLSSPAGAAAFAAKMPRYRGAALAREEILEGDQAILQRIKKAVR
AIHSSGLGHVENEEQYREAVESLGNSHLSQNSHELSTGFLNLAVFTREVAALFKNLIQNL
NNIVSFPLDSLMKGQLRDGRQDSKKQLEKAWKDYEAKMAKLEKERDRARVTGGIPGEVAQ
DMQRERRIFQLHMCEYLLKAGESQMKQGPDFLQSLIKFFHAQHNFFQDGWKAAQSLFPFI
EKLAASVHALHQAQEDELQKL
TQLRDSLRGTLQLESREEHLSRKNSGCGYSIHQHQGNKQ
FGTEKVGFLYKKSDGIRRVWQKRKCGVKYGCLTISHSTINRPPVKLTLLTCQVRPNPEEK
KCFDLVTHNRTYHFQAEDEHECEAWVSVLQNSKD
EALSSAFLGEPSAGPGSWGSAGHDGE
PHDLTKLLIAEVKSRPGNSQCCDCGAADPTWLSTNLGVLTCIQCSGVHRELGVRFSRMQS
LTLDLLGPSELLLALNMGNTSFNEVMEAQLPSHGGPKPSAESDMGTRRDYIMAKYVEHRF
ARRC
TPEPQRLWTAICNRDLLSVLEAFANGQDFGQPLPGPDAQAPEELVLHLAVKVANQA
SLPLVDFIIQNGGHLDAKAADGNTALHYAALYNQPDCLKLLLKGRALVGTVNEAGETALD
IARKKHHKECEELLEQAQAGTF
AFPLHVDYSWVISTEPGSDSEEDEEEKRCLLKLPAQAH
WASGRLDISNKTYETVASLGAATPQGESEDCPPPLPVKNSSRTLVQGCARHASGDRSEVS
SLSSEAPETPESLGSPASSSSLMSPLEPGDPSQAPPNSEEGLREPPGTSRPSLTSGTTPS
EMYLPVRFSSESTRSYRRGARSPEDGPSARQPLPRRNVPVGITEGDGSRTGSLPASSVQL
LQD
Sequence length 903
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
KEGG Pathway
Endocytosis
Fc gamma R-mediated phagocytosis
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
2
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 Reference Evidence Score
Nonpapillary renal cell carcinoma Benign ClinVar —
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma Uncertain significance ClinVar —
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Show/Hide Text Mining Associations (20)
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Adenocarcinoma of lung (disorder) Lung adenocarcinoma BEFREE 31410024
★★★★★
★☆☆☆☆
Found in Text Mining only
Adult Hepatocellular Carcinoma Liver carcinoma BEFREE 29348842
★★★★★
★☆☆☆☆
Found in Text Mining only
Breast Carcinoma Breast Carcinoma BEFREE 29348842, 30395269
★★★★★
★☆☆☆☆
Found in Text Mining only
Carcinoma of lung Lung carcinoma BEFREE 24078447, 29348842
★★★★★
★☆☆☆☆
Found in Text Mining only
Childhood Hepatocellular Carcinoma Liver carcinoma BEFREE 29348842
★★★★★
★☆☆☆☆
Found in Text Mining only
Colitis Colitis BEFREE 28502111
★★★★★
★☆☆☆☆
Found in Text Mining only
Colonic Neoplasms Colonic Neoplasms BEFREE 28502111
★★★★★
★☆☆☆☆
Found in Text Mining only
Colorectal Carcinoma Colorectal Cancer BEFREE 28502111, 30536996
★★★★★
★☆☆☆☆
Found in Text Mining only
Colorectal Carcinoma Colorectal Cancer UNIPROT_DG
★★★★★
★☆☆☆☆
Found in Text Mining only
Colorectal Neoplasms Colorectal neoplasm Pubtator 30536996 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only