ZFIN ID: ZDB-GENE-080130-3
Gene Name: solute carrier family 12 member 1
Gene Symbol: slc12a1    Nomenclature History

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Previous Names: nkcc2 (1), si:ch73-34a12.1

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(Including Attributions)
Gene Type: protein_coding_gene
Location: Chr: 18 Mapping Details/Browsers
Description: Predicted to have sodium:potassium:chloride symporter activity. Predicted to be involved in cell volume homeostasis; inorganic ion homeostasis; and inorganic ion transmembrane transport. Localizes to the apical plasma membrane. Human ortholog(s) of this gene implicated in Bartter disease and Bartter disease type 1. Is expressed in eye and renal system. Orthologous to human SLC12A1 (solute carrier family 12 member 1).
Genome Resources: Alliance (1),  Gene:100329975 (1),  Ensembl(GRCz11):ENSDARG00000098096 (1)
MUTATIONS AND SEQUENCE TARGETING REAGENTS No data available
PHENOTYPE No data available
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
DISEASE ASSOCIATED WITH slc12a1 VIA EXPERIMENTAL MODELS No data available
GENE ONTOLOGY
Ontology GO Term
Biological Process ion transport (more)
Cellular Component apical plasma membrane (more)
Molecular Function cation:chloride symporter activity (more)
GO Terms (all 17)
PROTEIN FAMILIES, DOMAINS AND SITES
Type InterPro ID Name
Family IPR002443 Solute carrier family 12 member 1/2
Domain IPR004841 Amino acid permease/ SLC12A domain
Family IPR004842 SLC12A transporter family
Domain IPR018491 SLC12A transporter, C-terminal
TRANSCRIPTS
Type Name Length (nt) Analysis
mRNA slc12a1-201 (1)    Ensembl 1983
Browsers: NCBIEnsemblZFIN
INTERACTIONS AND PATHWAYS
ANTIBODIES
Name Type Isotype Host Organism Assay Source Publications
Ab1-slc12a monoclonal IgG1 Mouse IHC Developmental Studies Hybridoma Bank
3
PLASMIDS No data available
CONSTRUCTS WITH SEQUENCES FROM slc12a1 No data available
MARKER RELATIONSHIPS
slc12a1 Contained in: [BAC] CH73-34A12 (1)
SEQUENCE INFORMATION
Type Accession # Length (bp/aa) Analysis
RNA RefSeq:XM_021467734 (1)
Genomic GenBank:CU498833 (1) 66872 bp
Select Tool
Polypeptide UniProtKB:A0A0R4IYN4 (1) 681 aa
Sequence Clusters UniGene:156611 (1)
Sequence Information (all 11)
ORTHOLOGY for slc12a1 ( Chr: 18 )
CITATIONS (39)