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Slc12a4 solute carrier family 12, member 4 [ Mus musculus (house mouse) ]

Gene ID: 20498, updated on 22-May-2022

Summary

Official Symbol
Slc12a4provided by MGI
Official Full Name
solute carrier family 12, member 4provided by MGI
Primary source
MGI:MGI:1309465
See related
Ensembl:ENSMUSG00000017765 AllianceGenome:MGI:1309465
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
KCC1; RBCKCC1; AW546649
Summary
Predicted to enable potassium:chloride symporter activity and protein kinase binding activity. Predicted to be involved in several processes, including cell volume homeostasis; inorganic ion homeostasis; and inorganic ion transmembrane transport. Predicted to act upstream of or within potassium ion transport. Predicted to be located in membrane. Predicted to be integral component of membrane. Is expressed in several structures, including adrenal gland; genitourinary system; liver; retina; and spleen. Orthologous to human SLC12A4 (solute carrier family 12 member 4). [provided by Alliance of Genome Resources, Apr 2022]
Expression
Ubiquitous expression in ovary adult (RPKM 36.4), lung adult (RPKM 32.8) and 28 other tissues See more
Orthologs
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Genomic context

See Slc12a4 in Genome Data Viewer
Location:
8 D3; 8 53.06 cM
Exon count:
24
Annotation release Status Assembly Chr Location
109 current GRCm39 (GCF_000001635.27) 8 NC_000074.7 (106670222..106692781, complement)
108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 8 NC_000074.6 (105943590..105966149, complement)
Build 37.2 previous assembly MGSCv37 (GCF_000001635.18) 8 NC_000074.5 (108467493..108489939, complement)

Chromosome 8 - NC_000074.7Genomic Context describing neighboring genes Neighboring gene proteasome (prosome, macropain) subunit, beta type 10 Neighboring gene lecithin cholesterol acyltransferase Neighboring gene microRNA 7074 Neighboring gene dipeptidase 3 Neighboring gene dipeptidase 2 Neighboring gene predicted gene, 22972

Genomic regions, transcripts, and products

Expression

  • 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Variation

Alleles

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

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by MGI

Function Evidence Code Pubs
enables cation:chloride symporter activity IEA
Inferred from Electronic Annotation
more info
 
enables potassium:chloride symporter activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
enables protein kinase binding ISO
Inferred from Sequence Orthology
more info
 
enables symporter activity IEA
Inferred from Electronic Annotation
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
PubMed 
involved_in chemical synaptic transmission IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in chloride ion homeostasis IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in chloride transmembrane transport IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
acts_upstream_of_or_within ion transport IEA
Inferred from Electronic Annotation
more info
 
involved_in ion transport IEA
Inferred from Electronic Annotation
more info
 
involved_in potassium ion homeostasis IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in potassium ion import across plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
acts_upstream_of_or_within potassium 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 integral component of membrane IEA
Inferred from Electronic Annotation
more info
 
located_in membrane IEA
Inferred from Electronic Annotation
more info
 
is_active_in plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 

General protein information

Preferred Names
solute carrier family 12 member 4
Names
K-Cl Co-transporter-1
K-Cl cotransporter KCC1
electroneutral potassium-chloride cotransporter 1
erythroid K-Cl cotransporter 1
mKCC1

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)

  1. NM_001253804.1NP_001240733.1  solute carrier family 12 member 4 isoform 1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) represents the longest transcript and it encodes the longest protein (isoform 1).
    Source sequence(s)
    AK149969, AK159274, AK164479, BY740705
    Consensus CDS
    CCDS57642.1
    UniProtKB/TrEMBL
    F8WIJ0, Q3TPD4, Q3TWZ6, Q3UDQ8
    Related
    ENSMUSP00000034370.10, ENSMUST00000034370.17
    Conserved Domains (3) summary
    TIGR00930
    Location:441087
    2a30; K-Cl cotransporter
    pfam03522
    Location:7111087
    SLC12; Solute carrier family 12
    cl00456
    Location:144305
    SLC5-6-like_sbd; Solute carrier families 5 and 6-like; solute binding domain
  2. NM_009195.3NP_033221.1  solute carrier family 12 member 4 isoform 2

    See identical proteins and their annotated locations for NP_033221.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) uses a different splice site in the 5' coding region, compared to variant 1. The resulting protein (isoform 2) is shorter than isoform 1 by two amino acids.
    Source sequence(s)
    AK159274, BY740705
    Consensus CDS
    CCDS22623.1
    UniProtKB/Swiss-Prot
    Q9JIS8
    UniProtKB/TrEMBL
    Q3TWZ6
    Related
    ENSMUSP00000112130.3, ENSMUST00000116429.9
    Conserved Domains (3) summary
    TIGR00930
    Location:421085
    2a30; K-Cl cotransporter
    pfam03522
    Location:7091085
    SLC12; Solute carrier family 12
    cl00456
    Location:142303
    SLC5-6-like_sbd; Solute carrier families 5 and 6-like; solute binding domain

RNA

  1. NR_045594.1 RNA Sequence

    Status: VALIDATED

    Description
    Transcript Variant: This variant (3) uses a different splice site in the 3' end, compared to variant 1. This variant is represented as non-coding because the use of the 5'-most translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
    Source sequence(s)
    AK149969, AK159274, AK169044, BY740705

RefSeqs of Annotated Genomes: Mus musculus Annotation Release 109 details...Open this link in a new tab

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCm39 C57BL/6J

Genomic

  1. NC_000074.7 Reference GRCm39 C57BL/6J

    Range
    106670222..106692781 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_006530792.2XP_006530855.1  solute carrier family 12 member 4 isoform X1

    Conserved Domains (1) summary
    TIGR00930
    Location:631080
    2a30; K-Cl cotransporter