UCSF Pharmacogenetics of Membrane Transporters
Gene View
Common Name:CST
HGNC Symbol:SLC35A1
HGNC Description:solute carrier family 35 (CMP-sialic acid transporter), member A1
HGNC ID:11021
Superfamily:SLC
Chromosome:Chr.6(+): 88182637-88222057 GRCh37
Location:6q15
OMIM:605634
OMIM Phenotype:None
Accessions:BC017807
Nucleotide RefSeq:NM_006416
Protein RefSeq:NP_006407
Entrez:10559
Ensembl:ENSG00000164414
Isoforms:5
Evidence:Substrate In Vitro Evidence: CMP-Sialic Acid in CHO cells Eckhardt et al 1998, JBC, Vol 273 (32), p. 20189-95 Tissue Distribution Evidence: Ubiquitous distribution, found in the Golgi apparatus (immunofluorescence microscopy) Ishida et al 1998, J Biochem (Tokyo), Vol 124, p.171-178 Ishida and Kawakita 2003, Pflugers Arch
Tissues:ubiquitous/Golgi
Type:protein-coding
Sets:0
PharmGKB ID:PA35889
HPRD ID:09290
Substrates:CMP-Sia
Trivial Names:CST, hCST, CDG2F, CMPST
Transcripts:NM_006416.4 [Chr.6(+): 88182643-88222057 GRCh37]
NM_001168398.1 [Chr.6(+): 88182643-88222057 GRCh37]
XM_005248642.1 [Chr.6(+): 88182692-88222054 GRCh37]
XM_005248640.1 [Chr.6(+): 88182695-88222054 GRCh37]
XM_005248641.1 [Chr.6(+): 88182695-88222054 GRCh37]
ENST00000369552 [Chr.6(+): 88182695-88222054 GRCh37]
ENST00000369556 [Chr.6(+): 88182643-88222048 GRCh37]
ENST00000369557 [Chr.6(+): 88182722-88221244 GRCh37]
ENST00000464978 [Chr.6(+): 88180341-88221521 GRCh37]
ENST00000544441 [Chr.6(+): 88182692-88221567 GRCh37]
Annotation History:View Events (27)

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 SLC35A1.

Variant Data

View all PMT variants for SLC35A1 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.