mutated Ligand Binding Site gene DataBase





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Gene Summary

Ligand Binding Site Mutation Information

Protein Structure Related Information

Gene Expression and Gene-Gene Network

Phenotype Information

Pharmacological Information

Conservation Information for LBS

Gene summary for ABCC1
Gene summary
Basic gene Info.Gene symbolABCC1
Gene nameATP-binding cassette, sub-family C (CFTR/MRP), member 1
CytomapUCSC genome browser: 16p13.1
Type of geneprotein-coding
DescriptionATP-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 date20141222
dbXrefs MIM : 158343
Ensembl : ENSG00000103222
HPRD : 01153
Vega : OTTHUMG00000048267
ProteinUniProt: P33527
go to UniProt's Cross Reference DB Table
ExpressionCleanEX: HS_ABCC1
BioGPS: 4363
PathwayNCI Pathway Interaction Database: ABCC1
Pathway Commons: ABCC1
ContextiHOP: ABCC1
ligand binding site mutation search in PubMed: ABCC1
UCL Cancer Institute: ABCC1
Assigned class in mutLBSgeneDBB: This gene belongs to targetable_mutLBSgenes.

Gene ontology having evidence of Inferred from Direct Assay (IDA) from Entrez
GO:0006200ATP catabolic process15999530

Ligand binding site mutations for ABCC1

Cancer type specific mutLBS sorted by frequency
LBSAAchange of nsSNVCancer type# samples
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.

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

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.
LBSAAchange of nsSNVRelative stability change
(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

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)
* Left PPI network was created from samples with mutations in the LBS of ABCC1 and the right PPI network was created from samples without mutations in the LBS of ABCC1. Only genes with p-value < 0.05 are shown.
Red circle: input gene. Orange circle: LBSgene. Blue circle: other gene.


Phenotype information for ABCC1
Gene level disease information (DisGeNet)
Disease IDDisease name# PubMedAssociation type
umls:C1458155Breast Neoplasms8AlteredExpression, Biomarker
umls:C0009404Colorectal Neoplasms2Biomarker, GeneticVariation
umls:C0020538Hypertension1Biomarker, GeneticVariation
umls:C0031117Peripheral Nervous System Diseases1Biomarker, GeneticVariation
umls:C0242656Disease Progression1Biomarker
umls:C0018799Heart Diseases1Biomarker

Mutation level pathogenic information (ClinVar annotation)
Allele IDAA changeClinical significanceOriginPhenotype IDs

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.

Gene-centered drug-gene interaction network
Drug information targeting mutLBSgene (Approved drugs only)
Drug statusDrugBank IDNameTypeDrug structure
ApprovedDB01138SulfinpyrazoneSmall molecule
InvestigationalDB04851Biricodar dicitrateSmall molecule

Gene-centered ligand-gene interaction network

Ligands binding to mutated ligand binding site of ABCC1 go to BioLip
Ligand IDLigand short nameLigand long namePDB IDPDB namemutLBS
ATPATP2cbzAW653 G683

Conservation information for LBS of ABCC1
Multiple alignments for P33527 in multiple species
LBSAA sequence# speciesSpecies
C682VGQVGCGKSSL6Homo sapiens, Gallus gallus, Mus musculus, Rattus norvegicus, Canis lupus familiaris, Bos taurus
C682CGTVGSGKSSF1Arabidopsis thaliana
C682CGVIGSGKSSL1Oryza sativa subsp. japonica
G681VVGQVGCGKSS6Homo sapiens, Gallus gallus, Mus musculus, Rattus norvegicus, Canis lupus familiaris, Bos taurus
G681VCGTVGSGKSS1Arabidopsis thaliana
G681VCGVIGSGKSS1Oryza sativa subsp. japonica
G683GQVGCGKSSLL6Homo sapiens, Gallus gallus, Mus musculus, Rattus norvegicus, Canis lupus familiaris, Bos taurus
G683GTVGSGKSSFI1Arabidopsis thaliana
G683GVIGSGKSSLL1Oryza sativa subsp. japonica
K684QVGCGKSSLLS6Homo sapiens, Gallus gallus, Mus musculus, Rattus norvegicus, Canis lupus familiaris, Bos taurus
K684TVGSGKSSFIS1Arabidopsis thaliana
K684VIGSGKSSLLS1Oryza sativa subsp. japonica
Q713VAYVPQQAWIQ5Homo sapiens, Mus musculus, Rattus norvegicus, Canis lupus familiaris, Bos taurus
Q713IAYVPQQAWIQ1Gallus gallus
Q713TGYVSQSAWIQ1Arabidopsis thaliana
Q713AAYVPQTAWIQ1Oryza sativa subsp. japonica
S685VGCGKSSLLSA6Homo sapiens, Gallus gallus, Mus musculus, Rattus norvegicus, Canis lupus familiaris, Bos taurus
S685VGSGKSSFISC1Arabidopsis thaliana
S685IGSGKSSLLSS1Oryza sativa subsp. japonica
S686GCGKSSLLSAL6Homo sapiens, Gallus gallus, Mus musculus, Rattus norvegicus, Canis lupus familiaris, Bos taurus
S686GSGKSSFISCI1Arabidopsis thaliana
S686GSGKSSLLSSI1Oryza sativa subsp. japonica
T660SDP-PTLNGIT1Homo sapiens
T660TDP-PSLNSIN1Gallus gallus
T660GEP-PTLNGIT1Mus musculus
T660DEP-PTLNGIT1Rattus norvegicus
T660SDP-PTLSGIT1Canis lupus familiaris
T660NDP-PTLHGIT1Bos taurus
T660FSSRPTLSGIQ1Arabidopsis thaliana
T660SSPTPTLSGIN1Oryza sativa subsp. japonica
V680AVVGQVGCGKS6Homo sapiens, Gallus gallus, Mus musculus, Rattus norvegicus, Canis lupus familiaris, Bos taurus
V680AVCGTVGSGKS1Arabidopsis thaliana
V680AVCGVIGSGKS1Oryza sativa subsp. japonica
W653NATFTWARSDP2Homo sapiens, Canis lupus familiaris
W653NATFSWSKTDP1Gallus gallus
W653NATFTWARGEP1Mus musculus
W653NATFTWARDEP1Rattus norvegicus
W653NATFTWARNDP1Bos taurus
W653DGVFCWDPFSS1Arabidopsis thaliana
W653DATFSWNPSSP1Oryza sativa subsp. japonica

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