mutLBSgeneDB

mutLBSgeneDB
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 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)

* Left PPI network was created from samples with mutations in the LBS of SLC4A1 and the right PPI network was created from samples without mutations in the LBS of SLC4A1. Only genes with p-value < 0.05 are shown.
Red circle: input gene. Orange circle: LBSgene. Blue circle: other gene.

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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