Gene

slc12a1

ID

ZDB-GENE-080130-3

Name

solute carrier family 12 member 1

Symbol

slc12a1 Nomenclature History

Previous Names

nkcc2 (1)
si:ch73-34a12.1

Type

protein_coding_gene

Location

Chr: 18 Mapping Details/Browsers

Description

Predicted to enable sodium:potassium:chloride symporter activity. Predicted to be involved in several processes, including chloride ion homeostasis; monoatomic ion transmembrane transport; and potassium ion homeostasis. Predicted to act upstream of or within potassium ion transport; sodium ion transport; and transmembrane transport. Located in apical plasma membrane. Is expressed in eye and renal system. Human ortholog(s) of this gene implicated in Bartter disease and Bartter disease type 1. Orthologous to human SLC12A1 (solute carrier family 12 member 1).

Genome Resources

Note

None

Comparative Information

Expression

All Expression Data

53 figures from 24 publications

Cross-Species Comparison

High Throughput Data

Expression Atlas

UO scRNA-seq (UCSC browser)

Single Cell Expression Atlas

Daniocell

Thisse Expression Data

No data available

Wild Type Expression Summary

Phenotype

All Phenotype Data: No data available
Cross-Species Comparison: Alliance

Phenotype Summary

Mutations

Mutants

Sequence Targeting Reagents

Human Disease

Associated With slc12a1 Human Ortholog

Disease Ontology Term	Multi-Species Data	OMIM Term	OMIM Phenotype ID
Bartter disease type 1	Alliance	Bartter syndrome, type 1	601678

Associated With slc12a1 Via Experimental Models

No data available

Gene Ontology

Protein Domains

Domain, Family, and Site Summary

Type	InterPro ID	Name
Domain	IPR004841	Amino acid permease/ SLC12A domain
Domain	IPR013612	Amino acid permease, N-terminal
Domain	IPR018491	SLC12A transporter, C-terminal
Family	IPR002443	Solute carrier family 12 member 1/2
Family	IPR004842	SLC12A transporter family

Domain Details Per Protein

Protein	Additional Resources	Length	Amino acid permease, N-terminal	Amino acid permease/ SLC12A domain	SLC12A transporter, C-terminal	SLC12A transporter family	Solute carrier family 12 member 1/2
UniProtKB:A0A8M9PFN1	InterPro	1037

Transcripts

Genome Browsers

NCBI

Ensembl

ZFIN

Type	Name	Annotation Method	Has Havana Data	Length (nt)	Analysis
mRNA	slc12a1-201 (1) Ensembl	Ensembl		2,046 nt	Select Tool ZFIN BLAST

Interactions and Pathways

No data available

Antibodies

Name	Type	Antigen Genes	Isotype	Host Organism	Assay	Source	Citations
Ab1-slc12a	monoclonal	slc12a1 slc12a2	IgG1	Mouse	IHC	Developmental Studies Hybridoma Bank	5

Plasmids

No data available

Constructs

Marker Relationships

Sequences

Orthology

Comparative Orthology: Alliance
Gene Tree: Ensembl

Citations