slc12a3 solute carrier family 12 member 3 [Danio rerio (zebrafish)] - Gene

Summary

Official Symbol: slc12a3provided by ZNC
Official Full Name: solute carrier family 12 member 3provided by ZNC
Primary source: ZFIN:ZDB-GENE-030131-9505
See related: Ensembl:ENSDARG00000013855 AllianceGenome:ZFIN:ZDB-GENE-030131-9505
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
Also known as: wu:fj83c03; si:ch211-122c9.4
Summary: Predicted to enable sodium:potassium:chloride symporter activity. Acts upstream of or within cloaca development and pronephric duct morphogenesis. Predicted to be located in membrane. Predicted to be active in apical plasma membrane. Is expressed in several structures, including blood; intermediate mesoderm; opercular flap; pleuroperitoneal region; and scale. Human ortholog(s) of this gene implicated in Gitelman syndrome and essential hypertension. Orthologous to human SLC12A3 (solute carrier family 12 member 3). [provided by Alliance of Genome Resources, Dec 2024]
Orthologs: human mouse all
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Genomic context

Location:: chromosome: 18

Exon count:: 26

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCz11 (GCF_000002035.6)	18	NC_007129.7 (17583479..17598755)
105	previous assembly	GRCz10 (GCF_000002035.5)	18	NC_007129.6 (17594413..17609689)

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?

Knockdown of slc12a3 led to structural abnormality of kidney pronephric distal duct at 1-cell stage.
Title: Genetic and biological effects of sodium-chloride cotransporter (SLC12A3) in diabetic nephropathy.

Submit: New GeneRIF Correction

General gene information

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Gene Ontology Provided by ZFIN

Function	Evidence Code	Pubs
enables chloride:monoatomic cation symporter activity	IEA Inferred from Electronic Annotation more info
enables sodium:potassium:chloride symporter activity	IBA Inferred from Biological aspect of Ancestor more info
enables transmembrane transporter activity	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
involved_in cell volume homeostasis	IBA Inferred from Biological aspect of Ancestor more info
involved_in chloride ion homeostasis	IBA Inferred from Biological aspect of Ancestor more info
involved_in chloride transmembrane transport	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within cloaca development	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within monoatomic ion transport	IEA Inferred from Electronic Annotation more info
involved_in potassium ion homeostasis	IBA Inferred from Biological aspect of Ancestor more info
involved_in potassium ion import across plasma membrane	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within pronephric duct morphogenesis	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in sodium ion homeostasis	IBA Inferred from Biological aspect of Ancestor more info
involved_in sodium ion transmembrane transport	IBA Inferred from Biological aspect of Ancestor 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
is_active_in apical plasma membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in membrane	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: solute carrier family 12 member 3

Names: NCCT; solute carrier family 12 (sodium/chloride transporter), member 3; solute carrier family 12 (sodium/chloride transporters), member 3

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_001045080.1 → NP_001038545.1 solute carrier family 12 member 3

Status: PROVISIONAL

Source sequence(s)

BX470170

UniProtKB/TrEMBL

A0A8M1N9Z5, Q1LX46

Related

ENSDARP00000025500.8, ENSDART00000010998.9

Conserved Domains (4) summary

TIGR00930
Location:48 → 1011

2a30; K-Cl cotransporter

pfam03522
Location:637 → 1011

SLC12; Solute carrier family 12

pfam08403
Location:34 → 101

AA_permease_N; Amino acid permease N-terminal

cl19823
Location:490 → 589

GtrA; GtrA-like protein