slc24a5 solute carrier family 24 member 5 [Danio rerio (zebrafish)] - Gene

Summary

Official Symbol: slc24a5provided by ZNC
Official Full Name: solute carrier family 24 member 5provided by ZNC
Primary source: ZFIN:ZDB-GENE-031210-1
See related: Ensembl:ENSDARG00000024771 AllianceGenome:ZFIN:ZDB-GENE-031210-1
Gene type: protein coding
RefSeq status: PROVISIONAL
Organism: Danio rerio
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Actinopterygii; Neopterygii; Teleostei; Ostariophysi; Cypriniformes; Danionidae; Danioninae; Danio
Summary: Predicted to enable calcium, potassium:sodium antiporter activity. Acts upstream of or within melanocyte differentiation and melanocyte migration. Predicted to be located in membrane and trans-Golgi network. Predicted to be integral component of membrane. Is expressed in female organism; male organism; melanocyte; and presumptive retinal pigmented epithelium. 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]
Orthologs: human mouse all
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Genomic context

Location:: chromosome: 18

Exon count:: 9

Annotation release	Status	Assembly	Chr	Location
106	current	GRCz11 (GCF_000002035.6)	18	NC_007129.7 (5213338..5227420)
105	previous assembly	GRCz10 (GCF_000002035.5)	18	NC_007129.6 (5532057..5546139)

Chromosome 18 - NC_007129.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: Sequencing the Zebrafish transcriptome from a range of tissues and developmental stages
Description: Sequencing the Zebrafish transcriptome from a range of tissues and developmental stages
BioProject: PRJEB1986
Analysis date: Fri Dec 8 19:48:10 2017

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Molecular characterization of SLC24A5 variants and evaluation of Nitisinone treatment efficacy in a zebrafish model of OCA6.
Title: Molecular characterization of SLC24A5 variants and evaluation of Nitisinone treatment efficacy in a zebrafish model of OCA6.
golden mutants are associated with diminished number, size and density of melanosomes; golden encodes a putative cation exchanger slc24a5 that localizes to an intracellular membrane, likely the melanosome or its precursor
Title: SLC24A5, a putative cation exchanger, affects pigmentation in zebrafish and humans.

Submit: New GeneRIF Correction

General gene information

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Gene Ontology Provided by ZFIN

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, potassium:sodium antiporter activity	IBA Inferred from Biological aspect of Ancestor 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
acts_upstream_of_or_within calcium ion transport	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within developmental pigmentation	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within eye pigmentation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in intracellular calcium ion homeostasis	IBA Inferred from Biological aspect of Ancestor more info
involved_in melanocyte differentiation	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within melanocyte differentiation	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within melanocyte migration	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within monoatomic ion transport	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within pigmentation	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
acts_upstream_of_or_within 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 melanosome	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

General protein information

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Preferred Names: sodium/potassium/calcium exchanger 5

Names: K-dependent Na,Ca exchanger 5; Na(+)/K(+)/Ca(2+)-exchange protein 5; gol; gol-1; golden; golden-1; protein golden; solute carrier family 24 (sodium/potassium/calcium exchanger), member 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_001030280.1 → NP_001025451.1 sodium/potassium/calcium exchanger 5 precursor

See identical proteins and their annotated locations for NP_001025451.1

Status: PROVISIONAL

Source sequence(s)

AY682553

UniProtKB/Swiss-Prot

Q49P06, Q49SH1, Q592E6

Related

ENSDARP00000030499.5, ENSDART00000033574.6

Conserved Domains (2) summary

COG0530
Location:81 → 497

ECM27; Ca2+/Na+ antiporter [Inorganic ion transport and metabolism]

pfam01699
Location:346 → 497

Na_Ca_ex; Sodium/calcium exchanger protein