Source: hRBCD ; ID: IPI00298337
BGMUT ; ID: kidd
Marked as 'Integral membrane protein'
Confidence: high (a blood group or CD marker) Search PubMed for
(RBC AND this entry)

Gene names: SLC14A1 , HUT11, JK, RACH1, UT1, UTE
Protein names and data: UT1_HUMAN , Urea transporter 1 , Solute carrier family 14 member 1; Urea transporter, erythrocyte Lenght: 389 a.a.
Mass: 42528 Da
fasta formatted sequence

Function: Mediates urea transport in erythrocytes (By similarity). Low-affinity facilitative urea transporter that allow rapid equilibration between the urinary space and the hyperosmotic interstitium. the rate of urea conduction is increased by hypoosmotic stress.
Cellular location: Cell membrane; Multi-pass membrane protein (By similarity). Basolateral cell membrane (By similarity).
Tissue specificity: Erythrocytes.

Genetic variants

SLC14A1 is responsible for the Kidd blood group system (JK) [MIM:111000]. JK is defined by 2 alleles, JK*01 and JK*02 that give rise to Jk(a) and Jk(b) antigens respectively. The molecular basis of the Jk(a)/Jk(b) antigens is a single variation in position 280; Asp-280 corresponds to Jk(a) and Asn-280 to Jk(b). Some individuals carry silenced JK*01 and JK*02 alleles, designated JK*01N or JK*02N. They results in a Jk(null) phenotype associated with reduced urea permeability of red blood cells. Jk(null) is not associated with any obvious clinical syndrome except for a urine concentration defect.

Database cross-references

UniProt: Q13336
Ensembl: ENST00000321925
Ensembl: ENST00000415427
Ensembl: ENST00000436407
Ensembl: ENST00000586142
MIM: 111000
MIM: 613868
neXtProt: NX_Q13336
Antibodypedia: Q13336 (may not find the protein thus also not any antibody)
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