Slc24a5 solute carrier family 24, member 5 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Slc24a5provided by MGI
Official Full Name: solute carrier family 24, member 5provided by MGI
Primary source: MGI:MGI:2677271
See related: Ensembl:ENSMUSG00000035183 AllianceGenome:MGI:2677271
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
Also known as: JSX; NCX5; Oca6; NCKX5; F630045L20Rik
Summary: Enables calcium ion transmembrane transporter activity. Involved in calcium ion import. Acts upstream of or within negative regulation of melanin biosynthetic process. Predicted to be located in Golgi apparatus and membrane. Predicted to be integral component of membrane. Predicted to be active in trans-Golgi network. Is expressed in several structures, including brain; ear; gonad; spleen; and submandibular gland. Used to study ocular albinism. Human ortholog(s) of this gene implicated in oculocutaneous albinism type VI. Orthologous to human SLC24A5 (solute carrier family 24 member 5). [provided by Alliance of Genome Resources, Apr 2022]
Expression: Broad expression in CNS E14 (RPKM 23.7), whole brain E14.5 (RPKM 21.5) and 16 other tissues See more
Orthologs: human all
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Genomic context

Location:: 2 F1; 2 61.14 cM

Exon count:: 9

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	2	NC_000068.8 (124910076..124930316)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	2	NC_000068.7 (125068127..125088677)

Chromosome 2 - NC_000068.8 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

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?

NCKX5 is localized to mitochondria, not to melanosomes.
Title: Mitochondrial NCKX5 regulates melanosomal biogenesis and pigment production.
Mutation of Slc24a5 results in marked hypopigmentation of melanosomes in optic cup-derived pigmented epithelium in the eyes.
Title: Ocular albinism and hypopigmentation defects in Slc24a5-/- mice.
non-synonymous single nucleotide polymorphism in SLC24A5 alters a residue that is important for NCKX5 and NCKX2 activity
Title: SLC24A5 encodes a trans-Golgi network protein with potassium-dependent sodium-calcium exchange activity that regulates human epidermal melanogenesis.

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Variation

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Alleles

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

Endonuclease-mediated (2)
Targeted (3) 1 citation

General gene information

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Markers

Slc24a5 (e-PCR), detects polymorphism
- UniSTS:547030

Gene Ontology Provided by MGI

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

Process	Evidence Code	Pubs
involved_in calcium ion import	IDA Inferred from Direct Assay more info	PubMed
involved_in calcium ion import	ISO Inferred from Sequence Orthology more info
involved_in calcium ion transmembrane transport	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within calcium ion transport	IEA Inferred from Electronic Annotation more info
involved_in intracellular calcium ion homeostasis	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of melanin biosynthetic process	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in melanocyte differentiation	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within monoatomic ion transmembrane transport	ISO Inferred from Sequence Orthology more info	PubMed
acts_upstream_of_or_within monoatomic ion transport	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within negative regulation of melanin biosynthetic process	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within potassium ion transport	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within response to stimulus	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within sodium ion transport	IEA Inferred from Electronic Annotation more info
involved_in transmembrane transport	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
located_in Golgi apparatus	IEA Inferred from Electronic Annotation more info
located_in membrane	IEA Inferred from Electronic Annotation more info
is_active_in trans-Golgi network	IBA Inferred from Biological aspect of Ancestor more info
located_in trans-Golgi network	ISO Inferred from Sequence Orthology more info	PubMed

General protein information

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Preferred Names: sodium/potassium/calcium exchanger 5

Names: K-independent Na+/Ca2+ exchanger JSX; Na(+)/K(+)/Ca(2+)-exchange protein 5; Na-Ca exchanger 5; sodium/potassion/calcium exchanger 5

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_175034.4 → NP_778199.2 sodium/potassium/calcium exchanger 5 precursor

See identical proteins and their annotated locations for NP_778199.2

Status: VALIDATED

Source sequence(s)

AL928902

Consensus CDS

CCDS38226.1

UniProtKB/Swiss-Prot

Q6XE39, Q8C261, Q8CJF1

UniProtKB/TrEMBL

A2ATP8

Related

ENSMUSP00000063887.4, ENSMUST00000070353.4

Conserved Domains (2) summary

TIGR00367
Location:77 → 477

TIGR00367; K+-dependent Na+/Ca+ exchanger related-protein

pfam01699
Location:334 → 485

Na_Ca_ex; Sodium/calcium exchanger protein