mutLBSgeneDB |
Gene summary for ARFGAP1 |
Gene summary |
Basic gene Info. | Gene symbol | ARFGAP1 |
Gene name | ADP-ribosylation factor GTPase activating protein 1 | |
Synonyms | ARF1GAP|HRIHFB2281 | |
Cytomap | UCSC genome browser: 20q13.33 | |
Type of gene | protein-coding | |
RefGenes | NM_001281482.1, NM_001281483.1,NM_001281484.1,NM_018209.3,NM_175609.2, NR_104022.1,NR_104023.1, | |
Description | ADP-ribosylation factor GTPase-activating protein 1ARF1-directed GTPase-activating protein | |
Modification date | 20141207 | |
dbXrefs | MIM : 608377 | |
HGNC : HGNC | ||
Ensembl : ENSG00000101199 | ||
HPRD : 06443 | ||
Vega : OTTHUMG00000032965 | ||
Protein | UniProt: Q8N6T3 go to UniProt's Cross Reference DB Table | |
Expression | CleanEX: HS_ARFGAP1 | |
BioGPS: 55738 | ||
Pathway | NCI Pathway Interaction Database: ARFGAP1 | |
KEGG: ARFGAP1 | ||
REACTOME: ARFGAP1 | ||
Pathway Commons: ARFGAP1 | ||
Context | iHOP: ARFGAP1 | |
ligand binding site mutation search in PubMed: ARFGAP1 | ||
UCL Cancer Institute: ARFGAP1 | ||
Assigned class in mutLBSgeneDB | C: This gene just belongs to mutLBSgenes. |
Gene ontology having evidence of Inferred from Direct Assay (IDA) from Entrez |
GO ID | GO Term | PubMed ID | GO:0043547 | positive regulation of GTPase activity | 22423108 |
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Ligand binding site mutations for ARFGAP1 |
Cancer type specific mutLBS sorted by frequency |
LBS | AAchange of nsSNV | Cancer type | # samples | C25 | A27T | LUSC | 1 |
cf) Cancer type abbreviation. BLCA: Bladder urothelial carcinoma, BRCA: Breast invasive carcinoma, CESC: Cervical squamous cell carcinoma and endocervical adenocarcinoma, COAD: Colon adenocarcinoma, GBM: Glioblastoma multiforme, LGG: Brain lower grade glioma, HNSC: Head and neck squamous cell carcinoma, KICH: Kidney chromophobe, KIRC: Kidney renal clear cell carcinoma, KIRP: Kidney renal papillary cell carcinoma, LAML: Acute myeloid leukemia, LUAD: Lung adenocarcinoma, LUSC: Lung squamous cell carcinoma, OV: Ovarian serous cystadenocarcinoma, PAAD: Pancreatic adenocarcinoma, PRAD: Prostate adenocarcinoma, SKCM: Skin cutaneous melanoma, STAD: Stomach adenocarcinoma, THCA: Thyroid carcinoma, UCEC: Uterine corpus endometrial carcinoma. |
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Protein structure related information for ARFGAP1 |
Relative protein structure stability change (ΔΔE) using Mupro 1.1 Mupro score denotes assessment of the effect of mutations on thermodynamic stability. (ΔΔE<0: mutation decreases stability, ΔΔE>0: mutation increases stability) |
: nsSNV at non-LBS: nsSNV at LBS |
nsSNVs sorted by the relative stability change of protein structure by each mutation Blue: mutations of positive stability change. and red : the most recurrent mutation for this gene. |
LBS | AAchange of nsSNV | Relative stability change | C25 | A27T | -0.95651515 |
(MuPro1.1: Jianlin Cheng et al., Prediction of Protein Stability Changes for Single-Site Mutations Using Support Vector Machines, PROTEINS: Structure, Function, and Bioinformatics. 2006, 62:1125-1132) |
Structure image for ARFGAP1 from PDB |
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Differential gene expression and gene-gene network for ARFGAP1 |
Differential gene expression between mutated and non-mutated LBS samples in all 16 major cancer types |
Differential co-expressed gene network based on protein-protein interaction data (CePIN) |
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Phenotype information for ARFGAP1 |
Gene level disease information (DisGeNet) |
Disease ID | Disease name | # PubMed | Association type |
umls:C0008073 | Developmental Disabilities | 1 | Biomarker |
umls:C0027765 | Nervous System Diseases | 1 | Biomarker |
Mutation level pathogenic information (ClinVar annotation) |
Allele ID | AA change | Clinical significance | Origin | Phenotype IDs |
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Pharmacological information for ARFGAP1 |
Gene expression profile of anticancer drug treated cell-lines (CCLE) Heatmap showing the correlation between gene expression and drug response across all the cell-lines. We chose the top 20 among 138 drugs.We used Pearson's correlation coefficient. |
Drug information targeting mutLBSgene (Approved drugs only) |
Drug status | DrugBank ID | Name | Type | Drug structure |
Gene-centered ligand-gene interaction network |
Ligands binding to mutated ligand binding site of ARFGAP1 go to BioLip |
Ligand ID | Ligand short name | Ligand long name | PDB ID | PDB name | mutLBS | ZN | ZINC(2+) | 3dwd | A | C25 | ZN | ZINC(2+) | 3dwd | B | C25 | ZN | ZINC(2+) | 3o47 | A | C25 | ZN | ZINC(2+) | 3o47 | B | C25 |
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Conservation information for LBS of ARFGAP1 |
Multiple alignments for Q8N6T3 in multiple species |
LBS | AA sequence | # species | Species | C22 | DENNVCFECGA | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | C22 | PENKKCFDCDA | 1 | Schizosaccharomyces pombe (strain 972 / ATCC 24843) | C22 | GANKKCMDCGA | 1 | Saccharomyces cerevisiae (strain ATCC 204508 / S288c) | C25 | NVCFECGAFNP | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | C25 | KKCFDCDAPNP | 1 | Schizosaccharomyces pombe (strain 972 / ATCC 24843) | C25 | KKCMDCGAPNP | 1 | Saccharomyces cerevisiae (strain ATCC 204508 / S288c) | C42 | YGIWICLECSG | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | C42 | LGIFICLDCSG | 1 | Schizosaccharomyces pombe (strain 972 / ATCC 24843) | C42 | FGAFICLECAG | 1 | Saccharomyces cerevisiae (strain ATCC 204508 / S288c) | C45 | WICLECSGRHR | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | C45 | FICLDCSGQHR | 1 | Schizosaccharomyces pombe (strain 972 / ATCC 24843) | C45 | FICLECAGIHR | 1 | Saccharomyces cerevisiae (strain ATCC 204508 / S288c) |
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