SLC8B1 - solute carrier family 8 member B1 Gene

Homo sapiens

Also known as NCLX; NCKX6; SLC24A6

Gene ID: 80024 | Gene type: protein coding

About SLC8B1

Cytogenetic location: 12q24.13 Genomic coordinates (GRCh38): 12:113,298,771-113,335,109 (from NCBI)

This gene has 17 transcripts (splice variants) and 207 orthologues. Ubiquitous expression in ovary (RPKM 24.7), adrenal (RPKM 19.7) and 25 other tissues.

Summary

SLC24A6 belongs to a family of potassium-dependent sodium/calcium exchangers that maintain cellular calcium homeostasis through the electrogenic countertransport of 4 sodium ions for 1 calcium ion and 1 potassium ion (Cai and Lytton, 2004 [PubMed 14625281]).[supplied by OMIM, Mar 2008]

SLC8B1 Products(3)

mRNA	Protein	Name
NM_001330466.2	NP_001317395.1	mitochondrial sodium/calcium exchanger protein isoform 2 precursor
NM_001358345.2	NP_001345274.1	mitochondrial sodium/calcium exchanger protein isoform 1 precursor
NM_024959.4	NP_079235.2	mitochondrial sodium/calcium exchanger protein isoform 1 precursor

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	Reference	Source
enables calcium:sodium antiporter activity	IDA IDA: Inferred from direct assay	15060069	GOA
enables calcium:sodium antiporter activity	IMP IMP: Inferred from mutant phenotype	20018762	GOA
enables protein homodimerization activity	IPI IPI: Inferred from physical interaction	20018762	GOA

Biological Process GO Annotation	Evidence	Reference	Source
involved in calcium export from the mitochondrion	IDA IDA: Inferred from direct assay	24898248	GOA
involved in glucose homeostasis	IDA IDA: Inferred from direct assay	23056385	GOA
involved in mitochondrial calcium ion homeostasis	IDA IDA: Inferred from direct assay	24898248	GOA
involved in mitochondrial calcium ion homeostasis	IMP IMP: Inferred from mutant phenotype	20018762	GOA
involved in mitochondrial calcium ion transmembrane transport	IDA IDA: Inferred from direct assay	23056385	GOA
acts upstream of or within mitochondrial calcium ion transmembrane transport	IMP IMP: Inferred from mutant phenotype	20018762	GOA
involved in regulation of cardiac muscle cell membrane potential	IMP IMP: Inferred from mutant phenotype	20018762	GOA
involved in regulation of cytosolic calcium ion concentration	IMP IMP: Inferred from mutant phenotype	20018762	GOA
involved in regulation of insulin secretion	IDA IDA: Inferred from direct assay	23056385	GOA
involved in regulation of store-operated calcium entry	IDA IDA: Inferred from direct assay	28219928	GOA

Cellular Component GO Annotation	Evidence	Reference	Source
located in mitochondrial crista	IDA IDA: Inferred from direct assay	20018762	GOA
located in mitochondrial membrane	IDA IDA: Inferred from direct assay	23056385	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

SLC8B1 Protein Structure

Na_Ca_ex

0
100
200
300
400
500
584 a.a.

Protein Preferred Names

Protein Names

mitochondrial sodium/calcium exchanger protein

Na(+)/K(+)/Ca(2+)-exchange protein 6

Related Diseases

Diseases

Alias

Night Blindness, Congenital Stationary, Type 1d

Congenital Stationary Night Blindness 1d	CSNB1D
Csnb, Complete, Autosomal Recessive	Night Blindness, Congenital Stationary , 1d, Autosomal Recessive
Congenital Stationary Night Blindness 1d Autosomal Recessive	Night Blindness, Congenital Stationary, 1d
Complete Autosomal Recessive Csnb	Blindness, Night, Stationary, Congenital, Type 1d

Wolf-Hirschhorn Syndrome

Pitt-Rogers-Danks Syndrome	WHS
Chromosome 4p16.3 Deletion Syndrome	Wittwer Syndrome
4p- Syndrome	Pitt Syndrome
4p Deletion Syndrome	Distal Deletion 4p
Distal Monosomy 4p	Telomeric Deletion 4p
Prds	4p Syndrome
Chromosome 4p Syndrome	Microcephaly, Iugr, Hypertelorism, Ptosis, Iris Coloboma, Hooked Nose, External Ear Dysplasia, Psychomotor Retardation
Wolf Syndrome	Chromosome 4p Deletion Syndrome
Chromosome 4p Monosomy	Del Syndrome
Monosomy 4p	Partial Monosomy 4p
Chromosome 4 Short Arm Deletion

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS13340	SLC8B1 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Bos taurus	SLC8B1	VGNC	VGNC:34938
Felis catus	SLC8B1	VGNC	VGNC:65431
Rattus norvegicus	SLC8B1	RGD	RGD:1565818
Mus musculus	SLC8B1	MGD	MGI:2180781
Macaca mulatta	SLC8B1	VGNC	VGNC:100106
Canis familiaris	SLC8B1	VGNC	VGNC:46483

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