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SLC14A1 (solute carrier family 14 member 1 (Kidd blood group))

Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
6563
Gene nameGene Name - the full gene name approved by the HGNC.
Solute carrier family 14 member 1 (Kidd blood group)
Gene symbolGene Symbol - the official gene symbol approved by the HGNC, which is a short abbreviated form of the gene name.
SLC14A1
SynonymsGene synonyms aliases
HUT11, HUT11A, HsT1341, JK, Jk(a), Jk(b), RACH1, RACH2, UT-B1, UT1, UTE
ChromosomeChromosome number
18
Chromosome locationChromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
18q12.3
SummarySummary of gene provided in NCBI Entrez Gene.
The protein encoded by this gene is a membrane transporter that mediates urea transport in erythrocytes. This gene forms the basis for the Kidd blood group system. [provided by RefSeq, Mar 2009]
miRNAmiRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT443546 hsa-miR-3613-3p PAR-CLIP 22100165
MIRT443546 hsa-miR-3613-3p PAR-CLIP 22100165
MIRT1352530 hsa-miR-1224-3p CLIP-seq
MIRT1352531 hsa-miR-1256 CLIP-seq
MIRT1352532 hsa-miR-1260 CLIP-seq
Gene ontology (GO)Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0005372 Function Water transmembrane transporter activity IEA
GO:0005886 Component Plasma membrane IDA
GO:0005886 Component Plasma membrane TAS
GO:0005887 Component Integral component of plasma membrane IDA 19865084
GO:0006833 Process Water transport IEA
Other IDsOther ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM
HGNC
e!Ensembl
Protein
UniProt ID Q13336
Protein name Urea transporter 1 (Solute carrier family 14 member 1) (Urea transporter, erythrocyte)
Protein function Mediates the transport of urea driven by a concentration gradient across the cell membrane of erythrocytes (PubMed:10514515, PubMed:7797558, PubMed:7989337, PubMed:8997401). Also mediates the transport of urea across the cell membrane of the ren
PDB 6QD5 , 8BLP , 8XDF
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF03253 UT
59 354
Urea transporter
Family
Sequence
Sequence length 389
Interactions View interactions
PathwaysPathway information has different metabolic/signaling pathways associated with genes. Each record is hyperlinked to a complete information page which also includes links to the KEGG/Reactome pathway database.
 
Reactome
    Transport of bile salts and organic acids, metal ions and amine compounds
Associated diseases
Causal
Disease name Disease term dbSNP ID References
Anemia Anemia, Hemolytic, Idiopathic Acquired, Idiopathic Autoimmune Hemolytic Anemia rs118204044, rs118204045, rs118204046, rs121918330, rs869320719, rs869312029, rs121918332, rs869320724, rs767094129, rs786205058, rs786205059, rs137853119, rs137853120, rs137853121, rs1384933966, rs137853122, rs137853123, rs786205060, rs267607121, rs121908584, rs80338697, rs80338699, rs120074166, rs120074167, rs1050828, rs74575103, rs137852314, rs5030868, rs137852316, rs137852317, rs137852318, rs137852319, rs137852320, rs137852321, rs137852322, rs137852323, rs137852324, rs72554665, rs387906468, rs5030872, rs137852326, rs137852333, rs137852327, rs137852328, rs137852329, rs137852330, rs137852331, rs137852332, rs137852334, rs137852335, rs137852336, rs137852339, rs76645461, rs137852340, rs137852341, rs78478128, rs137852343, rs137852344, rs137852345, rs587776730, rs137852346, rs137852347, rs137852349, rs2070404412, rs2070350038, rs2070350009, rs137852303, rs137852304, rs33946267, rs34378160, rs33933298, rs11549407, rs35724775, rs34598529, rs41469945, rs267607201, rs80338694, rs80338696, rs387907018, rs398123546, rs78365220, rs587777100, rs587777101, rs483352840, rs869312752, rs765487627, rs1557229599, rs1557230040, rs1555524842, rs782090947, rs1358275550, rs1557229736, rs1557230573, rs1556323334, rs1233124208, rs1293528130, rs146864395, rs1595503440, rs1603411214, rs137852325, rs1575247302, rs1603411177, rs1336651679, rs782322505 6427987
Unknown
Disease name Disease term dbSNP ID References
Autoimmune hemolytic anemia Autoimmune hemolytic anemia, Cold Hemagglutinin Disease 6427987
Urinary bladder cancer Malignant neoplasm of urinary bladder 21824976, 24163127, 21750109
Bladder carcinoma Carcinoma of bladder 21750109, 21824976, 24163127

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