mutLBSgeneDB |
Gene summary for SLC4A1 |
Gene summary |
Basic gene Info. | Gene symbol | SLC4A1 |
Gene name | solute carrier family 4 (anion exchanger), member 1 (Diego blood group) | |
Synonyms | AE1|BND3|CD233|DI|EMPB3|EPB3|FR|RTA1A|SW|WD|WD1|WR | |
Cytomap | UCSC genome browser: 17q21.31 | |
Type of gene | protein-coding | |
RefGenes | NM_000342.3, | |
Description | Diego blood groupFroese blood groupSwann blood groupWaldner blood groupWright blood groupanion exchange protein 1anion exchanger 1anion exchanger-1band 3 anion transport proteinerythrocyte membrane protein band 3erythroid anion exchange protein | |
Modification date | 20141207 | |
dbXrefs | MIM : 109270 | |
HGNC : HGNC | ||
Ensembl : ENSG00000004939 | ||
HPRD : 00175 | ||
Vega : OTTHUMG00000156843 | ||
Protein | UniProt: P02730 go to UniProt's Cross Reference DB Table | |
Expression | CleanEX: HS_SLC4A1 | |
BioGPS: 6521 | ||
Pathway | NCI Pathway Interaction Database: SLC4A1 | |
KEGG: SLC4A1 | ||
REACTOME: SLC4A1 | ||
Pathway Commons: SLC4A1 | ||
Context | iHOP: SLC4A1 | |
ligand binding site mutation search in PubMed: SLC4A1 | ||
UCL Cancer Institute: SLC4A1 | ||
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:0006820 | anion transport | 14734552 | GO:0015701 | bicarbonate transport | 24121512 |
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Ligand binding site mutations for SLC4A1 |
Cancer type specific mutLBS sorted by frequency |
LBS | AAchange of nsSNV | Cancer type | # samples | K851 | V850A | STAD | 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 SLC4A1 |
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 | K851 | V850A | -1.4503319 |
(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 SLC4A1 from PDB |
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Differential gene expression and gene-gene network for SLC4A1 |
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 SLC4A1 |
Gene level disease information (DisGeNet) |
Disease ID | Disease name | # PubMed | Association type |
umls:C0259810 | Hypokalemic distal renal tubular acidosis | 41 | Biomarker, GeneticVariation |
umls:C0037889 | Spherocytosis, Hereditary | 16 | Biomarker, GeneticVariation |
umls:C0001126 | Acidosis, Renal Tubular | 12 | Biomarker, GeneticVariation |
umls:C0013902 | Elliptocytosis, Hereditary | 8 | Biomarker, GeneticVariation |
umls:C0002878 | Anemia, Hemolytic | 6 | Biomarker, GeneticVariation |
umls:C0024530 | Malaria | 5 | Biomarker, GeneticVariation |
umls:C1864498 | Renal tubular acidosis, distal, autosomal recessive | 2 | Biomarker, GeneticVariation |
umls:C0018939 | Hematologic 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 SLC4A1 |
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 SLC4A1 go to BioLip |
Ligand ID | Ligand short name | Ligand long name | PDB ID | PDB name | mutLBS | 4KU | 2,2'-ETHANE-1,2-DIYLBIS{5-[(SULFANYLMETHYL) AMINO]BENZENESULFONIC ACID} | 4yzf | A | K851 | 4KU | 2,2'-ETHANE-1,2-DIYLBIS{5-[(SULFANYLMETHYL) AMINO]BENZENESULFONIC ACID} | 4yzf | B | K851 | 4KU | 2,2'-ETHANE-1,2-DIYLBIS{5-[(SULFANYLMETHYL) AMINO]BENZENESULFONIC ACID} | 4yzf | C | K851 | 4KU | 2,2'-ETHANE-1,2-DIYLBIS{5-[(SULFANYLMETHYL) AMINO]BENZENESULFONIC ACID} | 4yzf | D | K851 |
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Conservation information for LBS of SLC4A1 |
Multiple alignments for P02730 in multiple species |
LBS | AA sequence | # species | Species | E535 | LIFIYETFSKL | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | E681 | ILIFLESQITT | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | F423 | SPAVTFGGLLG | 2 | Mus musculus, Rattus norvegicus | F423 | SPAITFGGLLG | 1 | Homo sapiens | F532 | LISLIFIYETF | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | F792 | VLFGIFLYMGV | 2 | Homo sapiens, Mus musculus | F792 | VLFGIFLYMGI | 1 | Rattus norvegicus | G466 | VLGFSGPLLVF | 2 | Mus musculus, Rattus norvegicus | G466 | VVGFSGPLLVF | 1 | Homo sapiens | K539 | YETFSKLIKIF | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | K851 | VLWVVKSTPAS | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | P419 | FAALSPAVTFG | 2 | Mus musculus, Rattus norvegicus | P419 | FAALSPAITFG | 1 | Homo sapiens | P467 | LGFSGPLLVFE | 2 | Mus musculus, Rattus norvegicus | P467 | VGFSGPLLVFE | 1 | Homo sapiens | T422 | LSPAVTFGGLL | 2 | Mus musculus, Rattus norvegicus | T422 | LSPAITFGGLL | 1 | Homo sapiens |
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