• Gene id: 283652

Gene Summary

• Gene Symbol: SLC24A5   Gene   UCSC   Ensembl
• Aliases: JSX, NCKX5, OCA6, SHEP4
• Gene name: solute carrier family 24 member 5
• Alternate names: sodium/potassium/calcium exchanger 5, Na(+)/K(+)/Ca(2+)-exchange protein 5, ion transporter JSX, oculocutaneous albinism 6 (autosomal recessive), solute carrier family 24 (sodium/potassium/calcium exchanger), member 5,
• Gene location: 15q21.1 (110958705: 110967871)     Exons: 6     NC_000006.12
• Gene summary(Entrez): This gene is a member of the potassium-dependent sodium/calcium exchanger family and encodes an intracellular membrane protein with 2 large hydrophilic loops and 2 sets of multiple transmembrane-spanning segments. Sequence variation in this gene has been
• OMIM: 609802

Protein Summary

• Protein general information: Q71RS6  
  • Name: Sodium/potassium/calcium exchanger 5 (Na(+)/K(+)/Ca(2+) exchange protein 5) (Solute carrier family 24 member 5)
  • Length: 500  
  • Mass: 54888
• Sequence:

  MQTKGGQTWARRALLLGILWATAHLPLSGTSLPQRLPRATGNSTQCVISPSSEFPEGFFTRQERRDGGIIIYFLI
  IVYMFMAISIVCDEYFLPSLEIISESLGLSQDVAGTTFMAAGSSAPELVTAFLGVFITKGDIGISTILGSAIYNL
  LGICAACGLLSNTVSTLSCWPLFRDCAAYTISAAAVLGIIYDNQVYWYEGALLLLIYGLYVLVLCFDIKINQYII
  KKCSPCCACLAKAMERSEQQPLMGWEDEGQPFIRRQSRTDSGIFYEDSGYSQLSISLHGLSQVSEDPPSVFNMPE
  ADLKRIFWVLSLPIITLLFLTTPDCRKKFWKNYFVITFFMSAIWISAFTYILVWMVTITGETLEIPDTVMGLTLL
  AAGTSIPDTIASVLVARKGKGDMAMSNIVGSNVFDMLCLGIPWFIKTAFINGSAPAEVNSRGLTYITISLNISII
  FLFLAVHFNGWKLDRKLGIVCLLSYLGLATLSVLYELGIIGNNKIRGCGG

• Structural information:
  • Interpro: IPR004481  IPR004837  IPR030245  
  • STRING: ENSP00000341550
• Other Databases: GeneCards:  SLC24A5  Malacards:  SLC24A5

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0006874	cellular calcium ion homeostasis	IBA	biological process
GO:0005802	trans-Golgi network	IBA	cellular component
GO:0005262	calcium channel activity	IBA	molecular function
GO:0070588	calcium ion transmembrane transport	IBA	biological process
GO:0030318	melanocyte differentiation	IBA	biological process
GO:0008273	calcium, potassium:sodium antiporter activity	IBA	molecular function
GO:0005802	trans-Golgi network	IEA	cellular component
GO:0006874	cellular calcium ion homeostasis	IEA	biological process
GO:0008273	calcium, potassium:sodium antiporter activity	IEA	molecular function
GO:0016021	integral component of membrane	IEA	cellular component
GO:0055085	transmembrane transport	IEA	biological process
GO:0070588	calcium ion transmembrane transport	IEA	biological process
GO:0006816	calcium ion transport	IEA	biological process
GO:0006814	sodium ion transport	IEA	biological process
GO:0015297	antiporter activity	IEA	molecular function
GO:0050896	response to stimulus	IEA	biological process
GO:0005794	Golgi apparatus	IEA	cellular component
GO:0006811	ion transport	IEA	biological process
GO:0006813	potassium ion transport	IEA	biological process
GO:0016021	integral component of membrane	IEA	cellular component
GO:0015293	symporter activity	IEA	molecular function
GO:0016020	membrane	IEA	cellular component
GO:0005802	trans-Golgi network	IDA	cellular component
GO:0034220	ion transmembrane transport	IDA	biological process
GO:0008273	calcium, potassium:sodium antiporter activity	IDA	molecular function
GO:0006811	ion transport	TAS	biological process
GO:0008273	calcium, potassium:sodium antiporter activity	TAS	molecular function
GO:0032588	trans-Golgi network membrane	TAS	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0048022	negative regulation of melanin biosynthetic process	IEA	biological process
GO:0042470	melanosome	IEA	cellular component
GO:0005794	Golgi apparatus	IEA	cellular component
GO:0098656	anion transmembrane transport	IEA	biological process
GO:0098656	anion transmembrane transport	IEA	biological process
GO:0098656	anion transmembrane transport	IEA	biological process
GO:0098656	anion transmembrane transport	IEA	biological process
GO:0071805	potassium ion transmembrane transport	IEA	biological process
GO:0071805	potassium ion transmembrane transport	IEA	biological process
GO:0071805	potassium ion transmembrane transport	IEA	biological process
GO:0071805	potassium ion transmembrane transport	IEA	biological process
GO:0035725	sodium ion transmembrane transport	IEA	biological process
GO:0035725	sodium ion transmembrane transport	IEA	biological process
GO:0035725	sodium ion transmembrane transport	IEA	biological process
GO:0035725	sodium ion transmembrane transport	IEA	biological process

Diseases

Associated diseases	References
Oculocutaneous albinism	KEGG:H00168
Oculocutaneous albinism	KEGG:H00168
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)