• Gene id: 9187

Gene Summary

• Gene Symbol: SLC24A1   Gene   UCSC   Ensembl
• Aliases: CSNB1D, HsT17412, NCKX, NCKX1, RODX
• Gene name: solute carrier family 24 member 1
• Alternate names: sodium/potassium/calcium exchanger 1, Na(+)/K(+)/Ca(2+)-exchange protein 1, retinal rod Na+/Ca+/K+ exchanger, solute carrier family 24 (sodium/potassium/calcium exchanger), member 1,
• Gene location: 15q22.31 (65611312: 65661001)     Exons: 17     NC_000015.10
• Gene summary(Entrez): This gene encodes a member of the potassium-dependent sodium/calcium exchanger protein family. The encoded protein plays an important role in sodium/calcium exchange in retinal rod and cone photoreceptors by mediating the extrusion of one calcium ion and

Protein Summary

• Protein general information: O60721  
  • Name: Sodium/potassium/calcium exchanger 1 (Na(+)/K(+)/Ca(2+) exchange protein 1) (Retinal rod Na Ca+K exchanger) (Solute carrier family 24 member 1)
  • Length: 1099  
  • Mass: 121374
  • Tissue specificity: Expressed in the retina, particularly in the inner segment, outer and inner nuclear layers, and ganglion cell layer. {ECO
• Sequence:

  MGKLIRMGPQERWLLRTKRLHWSRLLFLLGMLIIGSTYQHLRRPRGLSSLWAAVSSHQPIKLASRDLSSEEMMMM
  SSSPSKPSSEMGGKMLVPQASVGSDEATLSMTVENIPSMPKRTAKMIPTTTKNNYSPTAAGTERRKEDTPTSSRT
  LTYYTSTSSRQIVKKYTPTPRGEMKSYSPTQVREKVKYTPSPRGRRVGTYVPSTFMTMETSHAITPRTTVKDSDI
  TATYKILETNSLKRIMEETTPTTLKGMFDSTPTFLTHEVEANVLTSPRSVMEKNNLFPPRRVESNSSAHPWGLVG
  KSNPKTPQGTVLLHTPATSEGQVTISTMTGSSPAETKAFTAAWSLRNPSPRTSVSAIKTAPAIVWRLAKKPSTAP
  STSTTPTVRAKLTMQVHHCVVVKPTPAMLTTPSPSLTTALLPEELSPSPSVLPPSLPDLHPKGEYPPDLFSVEER
  RQGWVVLHVFGMMYVFVALAIVCDEYFVPALGVITDKLQISEDVAGATFMAAGGSAPELFTSLIGVFISHSNVGI
  GTIVGSAVFNILFVIGTCSLFSREILNLTWWPLFRDVSFYILDLIMLILFFLDSLIAWWESLLLLLAYAFYVFTM
  KWNKHIEVWVKEQLSRRPVAKVMALEDLSKPGDGAIAVDELQDNKKLKLPSLLTRGSSSTSLHNSTIRSTIYQLM
  LHSLDPLREVRLAKEKEEESLNQGARAQPQAKAESKPEEEEPAKLPAVTVTPAPVPDIKGDQKENPGGQEDVAEA
  ESTGEMPGEEGETAGEGETEEKSGGETQPEGEGETETQGKGEECEDENEAEGKGDNEGEDEGEIHAEDGEMKGNE
  GETESQELSAENHGEAKNDEKGVEDGGGSDGGDSEEEEEEEEEQEEEEEEEEQEEEEEEEEEEEEKGNEEPLSLD
  WPETRQKQAIYLFLLPIVFPLWLTVPDVRRQESRKFFVFTFLGSIMWIAMFSYLMVWWAHQVGETIGISEEIMGL
  TILAAGTSIPDLITSVIVARKGLGDMAVSSSVGSNIFDITVGLPVPWLLFSLINGLQPVPVSSNGLFCAIVLLFL
  MLLFVISSIASCKWRMNKILGFTMFLLYFVFLIISVMLEDRIISCPVSV

• Structural information:
  • Interpro: IPR004481  IPR004837  IPR004817  
  • STRING: ENSP00000261892
• Other Databases: GeneCards:  SLC24A1  Malacards:  SLC24A1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0006874	cellular calcium ion homeostasis	IDA	biological process
GO:0035725	sodium ion transmembrane transport	IDA	biological process
GO:0005886	plasma membrane	IDA	cellular component
GO:0008273	calcium, potassium:sodium antiporter activity	IDA	molecular function
GO:0008273	calcium, potassium:sodium antiporter activity	ISS	molecular function
GO:0070588	calcium ion transmembrane transport	IDA	biological process
GO:0071805	potassium ion transmembrane transport	IDA	biological process
GO:0098703	calcium ion import across plasma membrane	ISS	biological process
GO:0044214	spanning component of plasma membrane	RCA	cellular component
GO:0043025	neuronal cell body	ISS	cellular component
GO:0070588	calcium ion transmembrane transport	IBA	biological process
GO:0060292	long-term synaptic depression	IBA	biological process
GO:0008273	calcium, potassium:sodium antiporter activity	IBA	molecular function
GO:0005887	integral component of plasma membrane	IBA	cellular component
GO:0060291	long-term synaptic potentiation	IBA	biological process
GO:0006874	cellular calcium ion homeostasis	IBA	biological process
GO:0005262	calcium channel activity	IBA	molecular function
GO:0006816	calcium ion transport	IEA	biological process
GO:0007601	visual perception	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:0007601	visual perception	IEA	biological process
GO:0050896	response to stimulus	IEA	biological process
GO:0006816	calcium ion transport	IEA	biological process
GO:0015297	antiporter activity	IEA	molecular function
GO:0016020	membrane	IEA	cellular component
GO:0006811	ion transport	IEA	biological process
GO:0015293	symporter activity	IEA	molecular function
GO:0016021	integral component of membrane	IEA	cellular component
GO:0005887	integral component of plasma membrane	TAS	cellular component
GO:0016020	membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0006811	ion transport	TAS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0016020	membrane	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:0098656	anion transmembrane transport	IEA	biological process
GO:0019867	outer membrane	NAS	cellular component
GO:0007601	visual perception	NAS	biological process
GO:0006816	calcium ion transport	NAS	biological process
GO:0009642	response to light intensity	NAS	biological process
GO:0008273	calcium, potassium:sodium antiporter activity	NAS	molecular function

KEGG pathways

Pathway id	Pathway name
hsa04744	Phototransduction

Diseases

Associated diseases	References
Congenital stationary night blindness	KEGG:H00787
Congenital stationary night blindness	KEGG:H00787
Unexplained infertility	MIK: 25753583

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
25753583	Unexplained infertility			46 (17 fertile men, 29 male patients)	Male infertility	Microarray