Gene Gene information from NCBI Gene database.
Entrez ID 6563
Gene name Solute carrier family 14 member 1 (Kidd blood group)
Gene symbol SLC14A1
Synonyms (NCBI Gene)
HUT11HUT11AHsT1341JKJk(a)Jk(b)RACH1RACH2UT-B1UT1UTE
Chromosome 18
Chromosome location 18q12.3
Summary 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]
miRNA miRNA information provided by mirtarbase database.
178
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 (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
20
GO ID Ontology Definition Evidence Reference
GO:0005372 Function Water transmembrane transporter activity IEA
GO:0005515 Function Protein binding IPI 32296183
GO:0005886 Component Plasma membrane IDA 7797558, 10514515, 19865084
GO:0005886 Component Plasma membrane IEA
GO:0005886 Component Plasma membrane TAS 7797558, 7989337
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
613868 10918 ENSG00000141469
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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
Tissue specificity TISSUE SPECIFICITY: Detected in erythrocytes (at protein level) (PubMed:23219802). Expressed in spleen erythroblasts and tumoral kidney (PubMed:7989337). {ECO:0000269|PubMed:23219802, ECO:0000269|PubMed:7989337}.
Sequence
Sequence length 389
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  Reactome
    Transport of bile salts and organic acids, metal ions and amine compounds
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
15
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Jk-null variant Likely pathogenic; Pathogenic rs78937798, rs77744921 RCV000019291
RCV000019292
Jk-null variant, finnish type Pathogenic rs78242949 RCV000019293
Malignant lymphoma, large B-cell, diffuse Likely pathogenic rs78937798 RCV005887567
SLC14A1-related disorder Likely pathogenic rs760401643, rs78937798 RCV003422467
RCV003415719
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
altered red cell phenotype Affects rs777313922 RCV001754579
BLOOD GROUP, KIDD SYSTEM Uncertain significance rs751692991 RCV002221430
KIDD BLOOD POLYMORPHISM Jk(a)/Jk(b) Benign rs1058396 RCV000019290
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Carcinoma Renal Cell Associate 35955933
Hemolytic Uremic Syndrome Associate 29279852
Leukemia Myeloid Acute Associate 38077322
Prostatic Neoplasms Associate 22735730
Prostatic Neoplasms Inhibit 36257969
Urethral Neoplasms Associate 32703295
Urinary Bladder Neoplasms Associate 21750109, 23754249, 29028944, 32703295