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solute carrier family 12 member 4; electroneutral K+-chloride cotransporter 1; erythroid K-Cl cotransporter 1; hKCC1 (SLC12A4, KCC1)
Function:
- mediates electroneutral K+-chloride cotransport when activated by cell swelling
- may contribute to cell volume homeostasis in single cells
- may be involved in regulation of basolateral Cl- exit in NaCl absorbing epithelia
- isoform 4 has no transport activity
- homomultimer & heteromultimer with other K-Cl cotransporters
Structure:
- N-glycosylated
- belongs to the SLC12A transporter family
Compartment: membrane
Alternative splicing: named isoforms=4
Expression:
- ubiquitous
- isoform 1 was not detected in circulating reticulocytes
Pathology:
- expression is higher in erythrocytes from patients with Hb SC & Hb SS compared to normal Hb AA erythrocytes
- this may contribute to red blood cell dehydration & to the manifestation of sickle cell disease by increasing the intracellular concentration of HbS
General
glycoprotein
solute carrier family 12 (SLC12, SLC12A)
transmembrane 12 protein
Properties
SIZE: entity length = 1085 aa
MW = 121 kD
COMPARTMENT: cellular membrane
MOTIF: cytoplasmic domain {1-118}
MOTIF: Ser phosphorylation site {S47}
Ser phosphorylation site {S51}
transmembrane domain {119-139}
exoplasmic loop {140-148}
transmembrane domain {149-169}
cytoplasmic loop {170-214}
transmembrane domain {215-235}
exoplasmic loop {236-252}
MOTIF: N-glycosylation site {N245}
transmembrane domain {253-273}
cytoplasmic loop {274-275}
transmembrane domain {276-296}
exoplasmic loop {297-355}
MOTIF: N-glycosylation site {N312}
N-glycosylation site {N331}
N-glycosylation site {N347}
transmembrane domain {356-376}
cytoplasmic loop {377-407}
transmembrane domain {408-428}
exoplasmic loop {429-452}
MOTIF: N-glycosylation site {N439}
transmembrane domain {453-473}
cytoplasmic loop {474-493}
transmembrane domain {494-514}
exoplasmic loop {515-566}
transmembrane domain {567-587}
cytoplasmic loop {588-627}
transmembrane domain {628-648}
exoplasmic loop {649-844}
transmembrane domain {845-865}
cytoplasmic domain {866-1085}
MOTIF: Ser phosphorylation site {S967}
Thr phosphorylation site {T983}
Database Correlations
OMIM 604119
UniProt Q9UP95
PFAM correlations
Entrez Gene 6560
Kegg hsa:6560
References
UniProt :accession Q9UP95