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SLC12A4 solute carrier family 12 member 4 [ Homo sapiens (human) ]

Gene ID: 6560, updated on 9-Oct-2018

Summary

Official Symbol
SLC12A4provided by HGNC
Official Full Name
solute carrier family 12 member 4provided by HGNC
Primary source
HGNC:HGNC:10913
See related
Ensembl:ENSG00000124067 MIM:604119; Vega:OTTHUMG00000137535
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
KCC1; hKCC1; CTC-479C5.17
Summary
This gene encodes a member of the SLC12A transporter family. The encoded protein mediates the coupled movement of potassium and chloride ions across the plasma membrane. This gene is expressed ubiquitously. Multiple alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq, Jan 2013]
Expression
Ubiquitous expression in lung (RPKM 18.3), placenta (RPKM 18.1) and 25 other tissues See more
Orthologs

Genomic context

See SLC12A4 in Genome Data Viewer
Location:
16q22.1
Exon count:
26
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 16 NC_000016.10 (67943474..67968694, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 16 NC_000016.9 (67977377..68002597, complement)

Chromosome 16 - NC_000016.10Genomic Context describing neighboring genes Neighboring gene protein serine kinase H1 Neighboring gene chymotrypsin like Neighboring gene proteasome subunit beta 10 Neighboring gene lecithin-cholesterol acyltransferase Neighboring gene dipeptidase 3 Neighboring gene dipeptidase 2

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Jun 15 11:32:44 2016

Bibliography

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Pathways from BioSystems

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ17069, FLJ40489

Gene Ontology Provided by GOA

Function Evidence Code Pubs
potassium:chloride symporter activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
potassium:chloride symporter activity TAS
Traceable Author Statement
more info
 
protein kinase binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
cell volume homeostasis IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
chemical synaptic transmission IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
chloride ion homeostasis IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
chloride transmembrane transport IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
ion transport TAS
Traceable Author Statement
more info
 
potassium ion homeostasis IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
potassium ion import across plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Component Evidence Code Pubs
integral component of plasma membrane TAS
Traceable Author Statement
more info
PubMed 
lysosomal membrane HDA PubMed 
membrane TAS
Traceable Author Statement
more info
PubMed 
plasma membrane TAS
Traceable Author Statement
more info
 

General protein information

Preferred Names
solute carrier family 12 member 4
Names
electroneutral potassium-chloride cotransporter 1
erythroid K-Cl cotransporter 1
potassium/chloride cotransporter 1
solute carrier family 12 (potassium/chloride transporter), member 4
solute carrier family 12 (potassium/chloride transporters), member 4

NCBI Reference Sequences (RefSeq)

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.

Genomic

  1. NG_033098.1 RefSeqGene

    Range
    5001..30221
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001145961.1NP_001139433.1  solute carrier family 12 member 4 isoform b

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) uses an alternate in-frame splice site in the 3' coding region compared to variant 1. This results in a shorter protein (isoform b) compared to isoform a.
    Source sequence(s)
    AI368074, AK293906, AK310027, BC021193, CF272417, DC321966
    UniProtKB/Swiss-Prot
    Q9UP95
    UniProtKB/TrEMBL
    B4DF30
    Conserved Domains (3) summary
    TIGR00930
    Location:421079
    2a30; K-Cl cotransporter
    pfam03522
    Location:7091079
    SLC12; Solute carrier family 12
    cl00456
    Location:142303
    SLC5-6-like_sbd; Solute carrier families 5 and 6-like; solute binding domain
  2. NM_001145962.1NP_001139434.1  solute carrier family 12 member 4 isoform c

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) lacks an alternate exon in the 5' coding region, and initiates translation at an alternate upstream start codon, compared to variant 1. The encoded isoform (c) has a distinct N-terminus and is longer than isoform a.
    Source sequence(s)
    AF047338, AI368074, AK293956, AK310027, CF272417, DC321966
    Consensus CDS
    CCDS54032.1
    UniProtKB/Swiss-Prot
    Q9UP95
    Related
    ENSP00000395983.2, ENST00000422611.6
    Conserved Domains (3) summary
    TIGR00930
    Location:701087
    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
  3. NM_001145963.1NP_001139435.1  solute carrier family 12 member 4 isoform d

    Status: REVIEWED

    Description
    Transcript Variant: This variant (4) contains an alternate 5' exon which includes a translational start codon, compared to variant 1. The encoded isoform (d) has a distinct N-terminus and is shorter than isoform a.
    Source sequence(s)
    AI368074, AK310027, AK316415, CF272417, DC402650
    Consensus CDS
    CCDS54030.1
    UniProtKB/Swiss-Prot
    Q9UP95
    Related
    ENSP00000445962.2, OTTHUMP00000256994, ENST00000537830.6, OTTHUMT00000437612
    Conserved Domains (3) summary
    TIGR00930
    Location:361079
    2a30; K-Cl cotransporter
    pfam03522
    Location:7031079
    SLC12; Solute carrier family 12
    cl00456
    Location:136297
    SLC5-6-like_sbd; Solute carrier families 5 and 6-like; solute binding domain
  4. NM_001145964.1NP_001139436.1  solute carrier family 12 member 4 isoform e

    Status: REVIEWED

    Description
    Transcript Variant: This variant (5) contains an alternate 5' exon which includes a translational start codon, compared to variant 1. The encoded isoform (e) has a distinct N-terminus and is shorter than isoform a.
    Source sequence(s)
    AI368074, AK299042, AK310027, CF272417, DC333904
    Consensus CDS
    CCDS54031.1
    UniProtKB/Swiss-Prot
    Q9UP95
    Related
    ENSP00000438334.2, OTTHUMP00000256993, ENST00000541864.6, OTTHUMT00000437611
    Conserved Domains (3) summary
    TIGR00930
    Location:111054
    2a30; K-Cl cotransporter
    pfam03522
    Location:6781054
    SLC12; Solute carrier family 12
    cl00456
    Location:111272
    SLC5-6-like_sbd; Solute carrier families 5 and 6-like; solute binding domain
  5. NM_005072.4NP_005063.1  solute carrier family 12 member 4 isoform a

    See identical proteins and their annotated locations for NP_005063.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longest transcript and encodes isoform a.
    Source sequence(s)
    AF047338, AI368074, AK310027, CF272417, DC321966
    Consensus CDS
    CCDS10855.1
    UniProtKB/Swiss-Prot
    Q9UP95
    Related
    ENSP00000318557.3, OTTHUMP00000174837, ENST00000316341.7, OTTHUMT00000268864
    Conserved Domains (1) summary
    TIGR00930
    Location:421085
    2a30; K-Cl cotransporter

RefSeqs of Annotated Genomes: Homo sapiens 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 GRCh38.p12 Primary Assembly

Genomic

  1. NC_000016.10 Reference GRCh38.p12 Primary Assembly

    Range
    67943474..67968694 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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