• Gene id: 80024

Gene Summary

• Gene Symbol: SLC8B1   Gene   UCSC   Ensembl
• Aliases: NCKX6, NCLX, SLC24A6
• Gene name: solute carrier family 8 member B1
• Alternate names: mitochondrial sodium/calcium exchanger protein, Na(+)/K(+)/Ca(2+)-exchange protein 6, sodium/calcium exchanger protein, mitochondrial, sodium/potassium/calcium exchanger 6, mitochondrial, solute carrier family 24 (sodium/lithium/calcium exchanger), member 6, s,
• Gene location: 12q24.13 (113335167: 113298765)     Exons: 18     NC_000012.12
• Gene summary(Entrez): 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
• OMIM: 609084

Protein Summary

• Protein general information: Q6J4K2  
  • Name: Mitochondrial sodium/calcium exchanger protein (Na(+)/K(+)/Ca(2+) exchange protein 6) (Sodium/calcium exchanger protein, mitochondrial) (Sodium/potassium/calcium exchanger 6) (Solute carrier family 24 member 6) (Solute carrier family 8 member B1)
  • Length: 584  
  • Mass: 64231
  • Tissue specificity: Present in pancreatic beta-cells (at protein level). {ECO
• Sequence:

  MAGRRLNLRWALSVLCVLLMAETVSGTRGSSTGAHISPQFPASGVNQTPVVDCRKVCGLNVSDRCDFIRTNPDCH
  SDGGYLDYLEGIFCHFPPSLLPLAVTLYVSWLLYLFLILGVTAAKFFCPNLSAISTTLKLSHNVAGVTFLAFGNG
  APDIFSALVAFSDPHTAGLALGALFGAGVLVTTVVAGGITILHPFMAASRPFFRDIVFYMVAVFLTFLMLFRGRV
  TLAWALGYLGLYVFYVVTVILCTWIYQRQRRGSLFCPMPVTPEILSDSEEDRVSSNTNSYDYGDEYRPLFFYQET
  TAQILVRALNPLDYMKWRRKSAYWKALKVFKLPVEFLLLLTVPVVDPDKDDQNWKRPLNCLHLVISPLVVVLTLQ
  SGTYGVYEIGGLVPVWVVVVIAGTALASVTFFATSDSQPPRLHWLFAFLGFLTSALWINAAATEVVNILRSLGVV
  FRLSNTVLGLTLLAWGNSIGDAFSDFTLARQGYPRMAFSACFGGIIFNILVGVGLGCLLQISRSHTEVKLEPDGL
  LVWVLAGALGLSLVFSLVSVPLQCFQLSRVYGFCLLLFYLNFLVVALLTEFGVIHLKSM

• Structural information:
  • Interpro: IPR004837  
  • STRING: ENSP00000447091
• Other Databases: GeneCards:  SLC8B1  Malacards:  SLC8B1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0006812	cation transport	IBA	biological process
GO:0006874	cellular calcium ion homeostasis	IBA	biological process
GO:0086038	calcium:sodium antiporter activity involved in regulation of cardiac muscle cell membrane potential	IBA	molecular function
GO:0099093	calcium export from the mitochondrion	IBA	biological process
GO:0008324	cation transmembrane transporter activity	IBA	molecular function
GO:0016020	membrane	IBA	cellular component
GO:0042593	glucose homeostasis	IDA	biological process
GO:0099093	calcium export from the mitochondrion	IDA	biological process
GO:0051560	mitochondrial calcium ion homeostasis	IDA	biological process
GO:0050796	regulation of insulin secretion	IDA	biological process
GO:0032592	integral component of mitochondrial membrane	IDA	cellular component
GO:0006851	mitochondrial calcium ion transmembrane transport	IDA	biological process
GO:0005432	calcium:sodium antiporter activity	IDA	molecular function
GO:0005432	calcium:sodium antiporter activity	IDA	molecular function
GO:2001256	regulation of store-operated calcium entry	IDA	biological process
GO:0005432	calcium:sodium antiporter activity	IDA	molecular function
GO:0006851	mitochondrial calcium ion transmembrane transport	IDA	biological process
GO:1901623	regulation of lymphocyte chemotaxis	ISS	biological process
GO:0086038	calcium:sodium antiporter activity involved in regulation of cardiac muscle cell membrane potential	ISS	molecular function
GO:0016021	integral component of membrane	IEA	cellular component
GO:0055085	transmembrane transport	IEA	biological process
GO:0006816	calcium ion transport	IEA	biological process
GO:0050896	response to stimulus	IEA	biological process
GO:0015297	antiporter activity	IEA	molecular function
GO:0006814	sodium ion transport	IEA	biological process
GO:0016021	integral component of membrane	IEA	cellular component
GO:0006811	ion transport	IEA	biological process
GO:0005739	mitochondrion	IEA	cellular component
GO:0005743	mitochondrial inner membrane	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0006851	mitochondrial calcium ion transmembrane transport	IMP	biological process
GO:0005432	calcium:sodium antiporter activity	TAS	molecular function
GO:0005743	mitochondrial inner membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0006811	ion transport	TAS	biological process
GO:0006851	mitochondrial calcium ion transmembrane transport	TAS	biological process
GO:0015368	calcium:cation antiporter activity	TAS	molecular function
GO:0042803	protein homodimerization activity	IEA	molecular function
GO:1901623	regulation of lymphocyte chemotaxis	IEA	biological process
GO:0099093	calcium export from the mitochondrion	IEA	biological process
GO:0086038	calcium:sodium antiporter activity involved in regulation of cardiac muscle cell membrane potential	IEA	molecular function
GO:0051560	mitochondrial calcium ion homeostasis	IEA	biological process
GO:0051480	regulation of cytosolic calcium ion concentration	IEA	biological process
GO:0042803	protein homodimerization activity	IEA	molecular function
GO:0035725	sodium ion transmembrane transport	IEA	biological process
GO:0042802	identical protein binding	IEA	molecular function
GO:0042383	sarcolemma	IEA	cellular component
GO:0030061	mitochondrial crista	IEA	cellular component
GO:0005743	mitochondrial inner membrane	IEA	cellular component
GO:0005739	mitochondrion	IEA	cellular component
GO:0070588	calcium ion transmembrane transport	IEA	biological process
GO:0006851	mitochondrial calcium ion transmembrane transport	IEA	biological process
GO:0005886	plasma membrane	IEA	cellular component
GO:0005739	mitochondrion	IEA	cellular component
GO:0005432	calcium:sodium antiporter activity	IEA	molecular function
GO:0086038	calcium:sodium antiporter activity involved in regulation of cardiac muscle cell membrane potential	TAS	molecular function
GO:0042803	protein homodimerization activity	IPI	molecular function
GO:0005432	calcium:sodium antiporter activity	IMP	molecular function
GO:0030061	mitochondrial crista	IDA	cellular component
GO:0051560	mitochondrial calcium ion homeostasis	IMP	biological process
GO:0051480	regulation of cytosolic calcium ion concentration	IMP	biological process
GO:0086036	regulation of cardiac muscle cell membrane potential	TAS	biological process
GO:0005743	mitochondrial inner membrane	IEA	cellular component

Diseases

Associated diseases	References
Cryptorchidism	MIK: 28606200
Spermatogenic defects	MIK: 31037746

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
31037746	Spermatogenic defects			28 men with azoospermia	Male infertility	Microarray