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mutLBSgeneDB |
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| Gene summary for ABCC1 |
 Gene summary |
| Basic gene Info. | Gene symbol | ABCC1 |
| Gene name | ATP-binding cassette, sub-family C (CFTR/MRP), member 1 | |
| Synonyms | ABC29|ABCC|GS-X|MRP|MRP1 | |
| Cytomap | UCSC genome browser: 16p13.1 | |
| Type of gene | protein-coding | |
| RefGenes | NM_004996.3, NM_019862.2,NM_019898.2,NM_019899.2,NM_019900.2, NM_019901.1,NM_019902.1, | |
| Description | ATP-binding cassette transporter variant ABCC1delta-ex13ATP-binding cassette transporter variant ABCC1delta-ex13&14ATP-binding cassette transporter variant ABCC1delta-ex25ATP-binding cassette transporter variant ABCC1delta-ex25&26LTC4 transporterleuk | |
| Modification date | 20141222 | |
| dbXrefs | MIM : 158343 | |
| HGNC : HGNC | ||
| Ensembl : ENSG00000103222 | ||
| HPRD : 01153 | ||
| Vega : OTTHUMG00000048267 | ||
| Protein | UniProt: P33527 go to UniProt's Cross Reference DB Table | |
| Expression | CleanEX: HS_ABCC1 | |
| BioGPS: 4363 | ||
| Pathway | NCI Pathway Interaction Database: ABCC1 | |
| KEGG: ABCC1 | ||
| REACTOME: ABCC1 | ||
| Pathway Commons: ABCC1 | ||
| Context | iHOP: ABCC1 | |
| ligand binding site mutation search in PubMed: ABCC1 | ||
| UCL Cancer Institute: ABCC1 | ||
| Assigned class in mutLBSgeneDB | B: This gene belongs to targetable_mutLBSgenes. | |
| Gene ontology having evidence of Inferred from Direct Assay (IDA) from Entrez |
| GO ID | GO Term | PubMed ID | GO:0006200 | ATP catabolic process | 15999530 |
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| Ligand binding site mutations for ABCC1 |
| Cancer type specific mutLBS sorted by frequency |
| LBS | AAchange of nsSNV | Cancer type | # samples | G683 | G683R | COAD | 1 | G683 | G683E | LUAD | 1 | W653 | R655M | 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 ABCC1 |
| 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 |
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| 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 | W653 | R655M | -0.90596107 | G683 | G683R | -0.30293813 | G683 | G683E | -0.2672922 |
| (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 ABCC1 from PDB |
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| Differential gene expression and gene-gene network for ABCC1 |
| 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 ABCC1 |
| Gene level disease information (DisGeNet) |
| Disease ID | Disease name | # PubMed | Association type |
| umls:C1458155 | Breast Neoplasms | 8 | AlteredExpression, Biomarker |
| umls:C0009404 | Colorectal Neoplasms | 2 | Biomarker, GeneticVariation |
| umls:C0020538 | Hypertension | 1 | Biomarker, GeneticVariation |
| umls:C0031117 | Peripheral Nervous System Diseases | 1 | Biomarker, GeneticVariation |
| umls:C0242656 | Disease Progression | 1 | Biomarker |
| umls:C0018799 | Heart 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 ABCC1 |
| 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. |
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| Gene-centered drug-gene interaction network |
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| Drug information targeting mutLBSgene (Approved drugs only) |
| Drug status | DrugBank ID | Name | Type | Drug structure |
| Approved | DB01138 | Sulfinpyrazone | Small molecule |  |
| Investigational | DB04851 | Biricodar dicitrate | Small molecule |  |
| Gene-centered ligand-gene interaction network |
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| Ligands binding to mutated ligand binding site of ABCC1 go to BioLip |
| Ligand ID | Ligand short name | Ligand long name | PDB ID | PDB name | mutLBS | ATP | ATP | 2cbz | A | W653 G683 |
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| Conservation information for LBS of ABCC1 |
| Multiple alignments for P33527 in multiple species |
| LBS | AA sequence | # species | Species | C682 | VGQVGCGKSSL | 6 | Homo sapiens, Gallus gallus, Mus musculus, Rattus norvegicus, Canis lupus familiaris, Bos taurus | C682 | CGTVGSGKSSF | 1 | Arabidopsis thaliana | C682 | CGVIGSGKSSL | 1 | Oryza sativa subsp. japonica | G681 | VVGQVGCGKSS | 6 | Homo sapiens, Gallus gallus, Mus musculus, Rattus norvegicus, Canis lupus familiaris, Bos taurus | G681 | VCGTVGSGKSS | 1 | Arabidopsis thaliana | G681 | VCGVIGSGKSS | 1 | Oryza sativa subsp. japonica | G683 | GQVGCGKSSLL | 6 | Homo sapiens, Gallus gallus, Mus musculus, Rattus norvegicus, Canis lupus familiaris, Bos taurus | G683 | GTVGSGKSSFI | 1 | Arabidopsis thaliana | G683 | GVIGSGKSSLL | 1 | Oryza sativa subsp. japonica | K684 | QVGCGKSSLLS | 6 | Homo sapiens, Gallus gallus, Mus musculus, Rattus norvegicus, Canis lupus familiaris, Bos taurus | K684 | TVGSGKSSFIS | 1 | Arabidopsis thaliana | K684 | VIGSGKSSLLS | 1 | Oryza sativa subsp. japonica | Q713 | VAYVPQQAWIQ | 5 | Homo sapiens, Mus musculus, Rattus norvegicus, Canis lupus familiaris, Bos taurus | Q713 | IAYVPQQAWIQ | 1 | Gallus gallus | Q713 | TGYVSQSAWIQ | 1 | Arabidopsis thaliana | Q713 | AAYVPQTAWIQ | 1 | Oryza sativa subsp. japonica | S685 | VGCGKSSLLSA | 6 | Homo sapiens, Gallus gallus, Mus musculus, Rattus norvegicus, Canis lupus familiaris, Bos taurus | S685 | VGSGKSSFISC | 1 | Arabidopsis thaliana | S685 | IGSGKSSLLSS | 1 | Oryza sativa subsp. japonica | S686 | GCGKSSLLSAL | 6 | Homo sapiens, Gallus gallus, Mus musculus, Rattus norvegicus, Canis lupus familiaris, Bos taurus | S686 | GSGKSSFISCI | 1 | Arabidopsis thaliana | S686 | GSGKSSLLSSI | 1 | Oryza sativa subsp. japonica | T660 | SDP-PTLNGIT | 1 | Homo sapiens | T660 | TDP-PSLNSIN | 1 | Gallus gallus | T660 | GEP-PTLNGIT | 1 | Mus musculus | T660 | DEP-PTLNGIT | 1 | Rattus norvegicus | T660 | SDP-PTLSGIT | 1 | Canis lupus familiaris | T660 | NDP-PTLHGIT | 1 | Bos taurus | T660 | FSSRPTLSGIQ | 1 | Arabidopsis thaliana | T660 | SSPTPTLSGIN | 1 | Oryza sativa subsp. japonica | V680 | AVVGQVGCGKS | 6 | Homo sapiens, Gallus gallus, Mus musculus, Rattus norvegicus, Canis lupus familiaris, Bos taurus | V680 | AVCGTVGSGKS | 1 | Arabidopsis thaliana | V680 | AVCGVIGSGKS | 1 | Oryza sativa subsp. japonica | W653 | NATFTWARSDP | 2 | Homo sapiens, Canis lupus familiaris | W653 | NATFSWSKTDP | 1 | Gallus gallus | W653 | NATFTWARGEP | 1 | Mus musculus | W653 | NATFTWARDEP | 1 | Rattus norvegicus | W653 | NATFTWARNDP | 1 | Bos taurus | W653 | DGVFCWDPFSS | 1 | Arabidopsis thaliana | W653 | DATFSWNPSSP | 1 | Oryza sativa subsp. japonica |
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