SLC14A1_UT-B2

Protein name: N/D Aliases: N/D Substrates: N/D Transport type: N/D Tissue and cellular expression: caudate nucleus (human), rumen (bovine), thymus (mouse) Subcellular expression: N/D Disease: N/D Locus: N/D Sequence ID: NP_001122060.3, NP_001139508.2, NP_001139509.1, NP_056949.4, Gene ID: 6563 Splice variants: N/D

UT1_HUMAN (UniProt)

Gene names: SLC14A1, HUT11, JK, RACH1, UT1, UTE
Protein names and data: UT1_HUMAN, Full=Urea transporter 1, Full=Solute carrier family 14 member 1;Full=Urea transporter, erythrocyte; Length: 389 a.a., Mass: 42528 Da,
fasta formatted sequence
Function: Specialized low-affinity urea transporter. Mediates urea transport in erythrocytes
Cellular location: Membrane; Multi-pass membrane protein. Cell membrane (By similarity)
Tissue specificity: Erythrocytes

Database cross-references

UniProt: Q13336
NextBio: 25535
OMIM: 111000 613868
Ensembl: ENST00000436407
GeneCard: GC18P045723
Guide to Pharmacology: SLC14A1_UT-B2 (982)
SLC14 family of facilitative urea transporters (982)
HGNC: HGNC:10918

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. See also Ensembl:ENST00000436407