Property Summary

NCBI Gene PubMed Count 55
PubMed Score 109.17
PubTator Score 131.92

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (23)

Disease log2 FC p
nephrosclerosis 1.131 2.1e-03
gastric carcinoma -1.200 9.3e-03
astrocytic glioma 2.900 1.2e-02
psoriasis -2.400 2.7e-43
cutaneous lupus erythematosus -1.500 1.8e-02
osteosarcoma -5.483 1.7e-05
glioblastoma -2.100 4.9e-03
group 4 medulloblastoma -3.500 9.7e-04
cystic fibrosis 1.839 1.7e-05
atypical teratoid/rhabdoid tumor -3.400 1.6e-06
medulloblastoma, large-cell -2.900 4.5e-03
primitive neuroectodermal tumor -2.100 4.8e-02
tuberculosis 1.500 3.4e-05
non-small cell lung cancer -1.693 6.3e-11
colon cancer 5.400 1.9e-04
interstitial cystitis -5.400 8.6e-06
pediatric high grade glioma -2.600 3.1e-03
pilocytic astrocytoma -2.100 1.3e-02
posterior fossa group B ependymoma 1.400 4.2e-02
subependymal giant cell astrocytoma -1.280 4.6e-02
Pick disease 1.800 2.0e-03
ovarian cancer -1.200 3.6e-02
Down syndrome 1.200 1.2e-02

 OMIM Phenotype (1)

 GWAS Trait (1)

Protein-protein Interaction (4)

Gene RIF (34)

PMID Text
25807964 The Jk(a-b-) phenotype in the Chinese population shows several different molecular mechanisms. A novel missense mutation nt737T>G of JK gene was found as associated with Jk(a-b-) phenotype.
25445116 Reduction or loss of UT-B expression may be related to the incidence, progression and invasiveness of bladder urothelial carcinoma.
25298346 Studies indicate that acid substitution in the urea transporter Slc14A1 UT-B protein determines the erythrocyte Kidd blood group antigen.
25298342 Studies indicate that expression of urea transporter UT-B confers high urea permeability to erythrocytes.
25218484 Results suggested that polymorphism in TERTC/T and SLC14A1C/T confirmed high risk for BC in North Indian population.
25209859 these data confirm the presence of UT-B protein within the human bladder.
24877238 Novel polymorphisms in exon 9 of the JSLC14A1 gene in Japanese individuals associated with the Jk(a-b-) phenotype.
24845979 High-throughput Kell, Kidd, and Duffy matrix-assisted laser desorption/ionization, time-of-flight mass spectrometry-based blood group genotyping of 4000 donors shows close to full concordance with serotyping and detects new alleles.
24376529 UT-B should be considered as a new member of the water channel family.
23898208 HIV-1 Tat downregulates the expression of solute carrier family 14, member 1 (SLC14A1) in human primary T cells
23754249 SLC14A1 could be a unique urea transporter in the bladder that has the ability to influence urine concentration and that this mechanism might explain the increased bladder cancer susceptibility associated with rs10775480.
23698785 Data indicate that urea transporter UT-A1 successfully trafficking to the apical membrane of the epithelial cells is crucial for the regulation of urea transport.
23552862 Inhibitor and mutagenesis studies and results of molecular dynamics simulations suggest that NH and HO pass through the three monomeric urea channels in UT-B.
23486518 Thienoquinoline PU-14 is a selective UT inhibitor and has urea-selective diuretic activity.
22738189 Four novel JK-null alleles were noted to be associated with the Jk(a-b-) phenotype.
22733730 the rate of urea conduction in UT-B is increased by hypoosmotic stress, and the site of osmoregulation coincides with the location of the energy barrier
22223368 Loss of SLC14A1 is associated with lung adenocarcinoma.
21824976 Genetic variation in SLC14A1 could provide new etiological insights into bladder carcinogenesis.
21750109 rs17674580, or other sequence variants of SLC14A1, indirectly modifies urinary bladder cancer risk by affecting urine production.
21309779 A new allele JK*01W has 3 changes (130G>A, 588A>G, Intron 9-46a>g)in addition to 838G. It is associated with weak expression of the Jk-a antigen on erythrocytes.
20560530 Observational study of genetic testing. (HuGE Navigator)
20431033 Observational study of genetic testing. (HuGE Navigator)
20424473 Observational study of gene-disease association. (HuGE Navigator)
20379614 Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
19926813 Results illustrate differential protein abundance of functional UT-B protein in different sections of the human colon, strongly correlating to regions that contain the largest populations of intestinal bacteria.
18997004 Three blood group antigens genes, namely CD55, CD151, and SLC14A1, have been subjected to balancing selection, a process, rare outside MHC genes, which maintains variability at a locus.
18713105 high frequency of JK null allele in Taiwanese indigenous groups
18510579 Observational study of genetic testing. (HuGE Navigator)
18067501 Observational study of genetic testing. (HuGE Navigator)
15783300 Observational study of genotype prevalence. (HuGE Navigator)
15754970 Observational study of genotype prevalence. (HuGE Navigator)
14985236 Kidd antigen/UT-B urea transporter is physiologically expressed in the human colon epithelium, where it could participate in the transport of urea across the colon mucosa.
12093813 gene encodes the Kidd blood group antigens
11852461 Observational study of genotype prevalence. (HuGE Navigator)

AA Sequence

MEDSPTMVRVDSPTMVRGENQVSPCQGRRCFPKALGYVTGDMKELANQLKDKPVVLQFIDWILRGISQVV      1 - 70
FVNNPVSGILILVGLLVQNPWWALTGWLGTVVSTLMALLLSQDRSLIASGLYGYNATLVGVLMAVFSDKG     71 - 140
DYFWWLLLPVCAMSMTCPIFSSALNSMLSKWDLPVFTLPFNMALSMYLSATGHYNPFFPAKLVIPITTAP    141 - 210
NISWSDLSALELLKSIPVGVGQIYGCDNPWTGGIFLGAILLSSPLMCLHAAIGSLLGIAAGLSLSAPFED    211 - 280
IYFGLWGFNSSLACIAMGGMFMALTWQTHLLALGCALFTAYLGVGMANFMAEVGLPACTWPFCLATLLFL    281 - 350
IMTTKNSNIYKMPLSKVTYPEENRIFYLQAKKRMVESPL                                   351 - 389
//

Text Mined References (59)

PMID Year Title
25807964 2015 A novel missense mutation nt737T>G of JK gene with Jk(a-b-) phenotype in Chinese blood donors.
25445116 2014 Clinical significance of the reduction of UT-B expression in urothelial carcinoma of the bladder.
25298346 2014 Clinical aspects of urea transporters.
25298342 2014 Transport characteristics of urea transporter-B.
25218484 2014 Replicative study of GWAS TP63C/T, TERTC/T, and SLC14A1C/T with susceptibility to bladder cancer in North Indians.
25209859 2014 Expression and localization of a UT-B urea transporter in the human bladder.
24877238 2014 JK null alleles identified from Japanese individuals with Jk(a?b?) phenotype.
24845979 2014 High-throughput Kell, Kidd, and Duffy matrix-assisted laser desorption/ionization, time-of-flight mass spectrometry-based blood group genotyping of 4000 donors shows close to full concordance with serotyping and detects new alleles.
24376529 2013 Energetic and molecular water permeation mechanisms of the human red blood cell urea transporter B.
24163127 2014 Genome-wide association study identifies multiple loci associated with bladder cancer risk.
23754249 2013 Differential urinary specific gravity as a molecular phenotype of the bladder cancer genetic association in the urea transporter gene, SLC14A1.
23710545 2013 A novel JK*02 allele in a French Canadian family.
23698785 2013 New advances in urea transporter UT-A1 membrane trafficking.
23552862 2013 Movement of NH? through the human urea transporter B: a new gas channel.
23486518 2013 A novel small-molecule thienoquinolin urea transporter inhibitor acts as a potential diuretic.
23219802 2013 Stomatin interacts with GLUT1/SLC2A1, band 3/SLC4A1, and aquaporin-1 in human erythrocyte membrane domains.
22738189 2013 The mutation spectrum of the JK-null phenotype in the Chinese population.
22733730 2012 Structure and permeation mechanism of a mammalian urea transporter.
22223368 2012 Association of lung adenocarcinoma clinical stage with gene expression pattern in noninvolved lung tissue.
21824976 2011 A genome-wide association study of bladder cancer identifies a new susceptibility locus within SLC14A1, a urea transporter gene on chromosome 18q12.3.
21750109 2011 European genome-wide association study identifies SLC14A1 as a new urinary bladder cancer susceptibility gene.
21309779 2011 Characterization of Jk(a+(weak)): a new blood group phenotype associated with an altered JK*01 allele.
20560530 2010 Robust, high-throughput solution for blood group genotyping.
20431033 2010 Single PCR multiplex SNaPshot reaction for detection of eleven blood group nucleotide polymorphisms: optimization, validation, and one year of routine clinical use.
20424473 2010 L-type voltage-dependent calcium channel alpha subunit 1C is a novel candidate gene associated with secondary hyperparathyroidism: an application of haplotype-based analysis for multiple linked single nucleotide polymorphisms.
20379614 Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
19926813 2010 Differential protein abundance and function of UT-B urea transporters in human colon.
19865084 2009 Crystal structure of a bacterial homologue of the kidney urea transporter.
19175544 2009 A genetic strategy to control expression of human blood group antigens in red blood cells generated in vitro.
18997004 2009 Widespread balancing selection and pathogen-driven selection at blood group antigen genes.
18980618 2009 Two novel Jk(null) alleles derived from 222C>A in Exon 5 and 896G>A in Exon 9 of the JK gene.
18713105 2008 Frequencies of the JKnull (IVS5-1g>a) allele in Taiwanese, Fujian, Filipino, and Indonesian populations.
18510579 2008 Introduction of a real-time-based blood-group genotyping approach.
18067501 2008 Blood group genotyping for Jk(a)/Jk(b), Fy(a)/Fy(b), S/s, K/k, Kp(a)/Kp(b), Js(a)/Js(b), Co(a)/Co(b), and Lu(a)/Lu(b) with microarray beads.
18028269 2008 Erythroid urea transporter deficiency due to novel JKnull alleles.
16344560 2006 Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes.
15783300 2005 ABO, Rh, MNS, Duffy, Kidd,Yt, Scianna, and Colton blood group systems in indigenous Chinese.
15754970 2004 Genetic characterization of the population of Grande Comore Island (Njazidja) according to major blood groups.
15489334 2004 The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
14985236 2004 Identification and characterization of a Kidd antigen/UT-B urea transporter expressed in human colon.
14702039 2004 Complete sequencing and characterization of 21,243 full-length human cDNAs.
12477932 2002 Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.
12093813 2002 Antigenic and functional properties of the human red blood cell urea transporter hUT-B1.
11852461 2001 A molecular genetic analysis of the Kidd blood group polymorphism in Taiwanese, Thais, and Filipinos.
11841450 2002 Novel alleles at the JK blood group locus explain the absence of the erythrocyte urea transporter in European families.
11807016 2002 Partial deletion in the JK locus causing a Jk(null) phenotype.
11435423 2001 U box proteins as a new family of ubiquitin-protein ligases.
10942407 2000 Molecular heterogeneity of the Jk(null) phenotype: expression analysis of the Jk(S291P) mutation found in Finns.
10653983 2000 Identification and cloning of a human urea transporter HUT11, which is downregulated during adipogenesis of explant cultures of human bone.
10644814 2000 Genomic characterization of the kidd blood group gene:different molecular basis of the Jk(a-b-) phenotype in Polynesians and Finns.
10514515 1999 At physiological expression levels the Kidd blood group/urea transporter protein is not a water channel.
9734652 1998 Genomic typing of the Kidd blood group locus by a single-tube allele-specific primer PCR technique.
9582331 1998 Characterization of the gene encoding the human Kidd blood group/urea transporter protein. Evidence for splice site mutations in Jknull individuals.
9215669 1997 The molecular basis of the Kidd blood group polymorphism and its lack of association with type 1 diabetes susceptibility.
8647271 1996 Molecular characterization of a new urea transporter in the human kidney.
8573795 1995 RACH2, a novel human gene that complements a fission yeast cell cycle checkpoint mutation.
7989337 1994 Cloning and functional expression of a urea transporter from human bone marrow cells.
7797558 1995 Kidd blood group and urea transport function of human erythrocytes are carried by the same protein.
2890568 1987 The Kidd (JK) blood group locus assigned to chromosome 18 by close linkage to a DNA-RFLP.