UCSF Pharmacogenetics of Membrane Transporters
Gene View
Common Name:UT-B1
HGNC Symbol:SLC14A1
HGNC Description:solute carrier family 14 (urea transporter), member 1
HGNC ID:10918
Superfamily:SLC
Chromosome:Chr.18(+): 43304088-43332485 GRCh37
Location:18q11-q12
OMIM:613868
OMIM Phenotype:Kidd blood polymorphism, Jk; JK-null variant; Jk-null variant, finnish type
Accessions:U35735
Nucleotide RefSeq:NM_001128588
Protein RefSeq:NP_001122060
Entrez:6563
Ensembl:ENSG00000141469
Isoforms:9
Evidence:Substrate In Vitro Evidence: Urea p-chloromercuribenzenesulfonate (pCMBS) - Review article. Shayakul C and Hediger MA. Pflugers Archive. 2003 (Epub). Substrate In Vivo Evidence: Urea - K.O. mice have defective urea recycling - Review article. Shayakul C and Hediger MA. Pflugers Archive. 2003 (Epub). Tissue Distribution Evidence: Kidney (vasa recta, papillary epithelia); erythrocytes, testes, brain, spleen, small intestine, colon, pancreas, skeletal muscle - Review article. Shayakul C and Hediger MA. Pflugers Archive. 2003 (Epub).
Tissues:Kidney (vasa recta, papillary epithelia); erythrocytes, testes, brain, spleen, small intestine, colon, pancreas, skeletal muscle
Type:protein-coding
Sets:0
PharmGKB ID:PA35810
HPRD ID:00195
Substrates:Urea, p-chloromercuribenzenesulfonate (pCMBS)
Trivial Names:JK, UT1, UTE, HUT11, RACH1, RACH2, UT-B1, HsT1341
Transcripts:NM_001128588.3 [Chr.18(+): 43304092-43332485 GRCh37]
NM_015865.6 [Chr.18(+): 43304092-43332485 GRCh37]
NM_001146036.2 [Chr.18(+): 43304092-43332485 GRCh37]
NM_001146037.1 [Chr.18(+): 43306918-43332485 GRCh37]
XM_005258332.1 [Chr.18(+): 43304088-43332485 GRCh37]
XM_005258329.1 [Chr.18(+): 43304116-43332485 GRCh37]
XM_005258333.1 [Chr.18(+): 43304118-43332485 GRCh37]
XM_005258331.1 [Chr.18(+): 43304144-43332485 GRCh37]
XM_005258330.1 [Chr.18(+): 43304149-43332485 GRCh37]
ENST00000321925 [Chr.18(+): 43304092-43332485 GRCh37]
ENST00000402943 [Chr.18(+): 43304149-43330133 GRCh37]
ENST00000415427 [Chr.18(+): 43304149-43329967 GRCh37]
ENST00000436407 [Chr.18(+): 43306690-43330295 GRCh37]
ENST00000502059 [Chr.18(+): 43304144-43331141 GRCh37]
ENST00000535474 [Chr.18(+): 43304149-43329981 GRCh37]
ENST00000586056 [Chr.18(+): 43304856-43314305 GRCh37]
ENST00000586142 [Chr.18(+): 43308994-43330300 GRCh37]
ENST00000586854 [Chr.18(+): 43316518-43319825 GRCh37]
ENST00000586951 [Chr.18(+): 43304149-43311135 GRCh37]
ENST00000587601 [Chr.18(+): 43304115-43314297 GRCh37]
ENST00000588179 [Chr.18(+): 43304161-43330300 GRCh37]
ENST00000589322 [Chr.18(+): 43304149-43319584 GRCh37]
ENST00000589700 [Chr.18(+): 43310286-43329916 GRCh37]
ENST00000589891 [Chr.18(+): 43307023-43311048 GRCh37]
ENST00000590246 [Chr.18(+): 43307339-43316613 GRCh37]
ENST00000590377 [Chr.18(+): 43311106-43332485 GRCh37]
ENST00000591541 [Chr.18(+): 43319467-43330085 GRCh37]
ENST00000591642 [Chr.18(+): 43314082-43319213 GRCh37]
ENST00000591943 [Chr.18(+): 43307339-43319186 GRCh37]
Annotation History:View Events (43)

GTEx Expression by Gene and Transcript

The heat map summarizes relative expression by tissue type at two levels of tissue detail, e.g., 'Brain' and 'Brain - Amygdala'. Choose among four calculated expression values, including mean and median RPKM values, and quantile normalized (QN) distributions of these values. (Note that differences between some distributions are subtle.) The coloring is relative to the mean of all displayed values. All values are log base 2. (See also PMT GTEx Expression Plotting.) Click on a transcript or tissue to resort the data.

Tissues:
Expression values:
No expression data exists for SLC14A1.

Variant Data

View all PMT variants for SLC14A1 on UCSC Genome Browser
Showing SNP features for transcript:   
1000 Genomes  

20141104 phase 3 variant call set of the 20130502 sequence freeze and alignments for SNPs and short indels (indels > 255 and structural variants are not included here). This variant set contains 2504 individuals from 26 populations (mouse over population column heading for population sizes).
Showing gene variants in regions defined by NCBI RefSeq exons, putative promoter, and PMT resequencing assays.
Note: Frequencies are calculated directly from reported genotypes and may vary from consensus frequencies reported by the 1000 Genomes project, which relied on additional data and the GATK tool Variant Quality Score Recalibrator.
dbSNP build 142.
Array availability: I - found on Illumina Human1M-Duo BeadChip (2011-04-21)  A - found on Affymetrix Genome-Wide SNP Array 6.0 (2011-06-21)  
Download the SNP table data as a tab-delimited file.

Transmembrane prediction: TOPO2 image is not available.