Slc24a1 solute carrier family 24 (sodium/potassium/calcium exchanger), member 1 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Slc24a1provided by MGI
Official Full Name: solute carrier family 24 (sodium/potassium/calcium exchanger), member 1provided by MGI
Primary source: MGI:MGI:2384871
See related: Ensembl:ENSMUSG00000034452 AllianceGenome:MGI:2384871
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Summary: Predicted to enable calcium channel activity and calcium, potassium:sodium antiporter activity. Predicted to be involved in intracellular calcium ion homeostasis; monoatomic cation transmembrane transport; and regulation of synaptic plasticity. Predicted to be located in cell surface. Predicted to be active in plasma membrane. Is expressed in brain; lens epithelium; and retina nuclear layer. Used to study congenital stationary night blindness 1D. Human ortholog(s) of this gene implicated in congenital stationary night blindness 1D. Orthologous to human SLC24A1 (solute carrier family 24 member 1). [provided by Alliance of Genome Resources, Nov 2024]
Expression: Low expression observed in reference dataset See more
Orthologs: human all
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Genomic context

Location:: 9 C; 9 35.0 cM

Exon count:: 10

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	9	NC_000075.7 (64830143..64858902, complement)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	9	NC_000075.6 (64922861..64951620, complement)

Chromosome 9 - NC_000075.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

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Expression

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See details

Project title: Mouse ENCODE transcriptome data
Description: RNA profiling data sets generated by the Mouse ENCODE project.
BioProject: PRJNA66167
Publication: PMID 25409824
Analysis date: n/a

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

The deletion of NCKX1 in mice results in malformed outer segment disks, suppressed expression and function of rod cGMP-gated channels and a subsequent 100-fold reduction in rod responses, while preserving normal cone responses.
Title: A new mouse model for stationary night blindness with mutant Slc24a1 explains the pathophysiology of the associated human disease.

Submit: New GeneRIF Correction

Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Endonuclease-mediated (1)
Gene trapped (1)
Targeted (1) 1 citation

General gene information

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Markers

Slc24a1 (e-PCR), detects polymorphism
- UniSTS:547027

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables calcium channel activity	IBA Inferred from Biological aspect of Ancestor more info
enables calcium, potassium:sodium antiporter activity	IBA Inferred from Biological aspect of Ancestor more info
enables calcium, potassium:sodium antiporter activity	IEA Inferred from Electronic Annotation more info
enables calcium, potassium:sodium antiporter activity	ISO Inferred from Sequence Orthology more info
enables symporter activity	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
involved_in calcium ion transmembrane transport	IBA Inferred from Biological aspect of Ancestor more info
involved_in calcium ion transmembrane transport	IEA Inferred from Electronic Annotation more info
involved_in calcium ion transmembrane transport	ISO Inferred from Sequence Orthology more info
involved_in intracellular calcium ion homeostasis	IBA Inferred from Biological aspect of Ancestor more info
involved_in intracellular calcium ion homeostasis	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within intracellular calcium ion homeostasis	ISO Inferred from Sequence Orthology more info
involved_in long-term synaptic depression	IBA Inferred from Biological aspect of Ancestor more info
involved_in long-term synaptic potentiation	IBA Inferred from Biological aspect of Ancestor more info
involved_in potassium ion transmembrane transport	IEA Inferred from Electronic Annotation more info
involved_in potassium ion transmembrane transport	ISO Inferred from Sequence Orthology more info
involved_in sodium ion transmembrane transport	IEA Inferred from Electronic Annotation more info
involved_in sodium ion transmembrane transport	ISO Inferred from Sequence Orthology more info
involved_in visual perception	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
located_in cell surface	IEA Inferred from Electronic Annotation more info
located_in cell surface	ISO Inferred from Sequence Orthology more info
is_active_in plasma membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in plasma membrane	IEA Inferred from Electronic Annotation more info
located_in plasma membrane	ISO Inferred from Sequence Orthology more info

General protein information

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Preferred Names: sodium/potassium/calcium exchanger 1

Names: Na(+)/K(+)/Ca(2+)-exchange protein 1; retinal rod Na-Ca+K exchanger; solute carrier family 24 member 1

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

NM_001410501.1 → NP_001397430.1 sodium/potassium/calcium exchanger 1 isoform 2

Status: VALIDATED

Source sequence(s)

AC140243
NM_144813.3 → NP_659062.1 sodium/potassium/calcium exchanger 1 isoform 1

See identical proteins and their annotated locations for NP_659062.1

Status: VALIDATED

Source sequence(s)

AC140243

Consensus CDS

CCDS23283.1

UniProtKB/Swiss-Prot

Q91WD8

Related

ENSMUSP00000035616.8, ENSMUST00000037798.8

Conserved Domains (1) summary

TIGR00927
Location:1 → 1130

2A1904; K+-dependent Na+/Ca+ exchanger

RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCm39 C57BL/6J

Genomic

NC_000075.7 Reference GRCm39 C57BL/6J

Range

64830143..64858902 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_017313271.2 → XP_017168760.1 sodium/potassium/calcium exchanger 1 isoform X1

UniProtKB/Swiss-Prot

Q91WD8

Conserved Domains (1) summary

TIGR00927
Location:1 → 1130

2A1904; K+-dependent Na+/Ca+ exchanger