UCSF Pharmacogenetics of Membrane Transporters
Gene View
Common Name:SLC7A10
HGNC Symbol:SLC7A10
HGNC Description:solute carrier family 7 (neutral amino acid transporter light chain, asc system), member 10
HGNC ID:11058
Superfamily:SLC
Chromosome:Chr.19(-): 33699570-33716756 GRCh37
Location:19q13.1
OMIM:607959
OMIM Phenotype:None
Accessions:NM_019849
Nucleotide RefSeq:NM_019849
Protein RefSeq:NP_062823
Entrez:56301
Ensembl:ENSG00000130876
Isoforms:1
Evidence:Substrate In Vitro Evidence: When coinjected with its heterodimer partner, 4F2hc, in X. laevis oocytes, ASC1 induced amino acid transport system asc, which transports small neutral amino acids (including D-serine) in a sodium-independent manner (Nakauchi J, Matsuo H, Kim DK, Goto A, Chairoungdua A, Cha SH, Inatomi J, Shiokawa Y, Yamaguchi K, Saito I, Endou H, Kanai Y. Cloning and characterization of a human brain Na(+)-independent transporter for small neutral amino acids that transports D-serine with high affinity. Neurosci Lett 287(3): 231-5, 2000). Tissue Distribution Evidence: Northern blot analysis detected transcripts of various sizes in brain, heart, placenta, skeletal muscle, and kidney. The 2.0-kb transcript predominated in brain (Nakauchi J, Matsuo H, Kim DK, Goto A, Chairoungdua A, Cha SH, Inatomi J, Shiokawa Y, Yamaguchi K, Saito I, Endou H, Kanai Y. Cloning and characterization of a human brain Na(+)-independent transporter for small neutral amino acids that transports D-serine with high affinity. Neurosci Lett 287(3): 231-5, 2000).
Tissues:Brain, heart, placenta, skeletal muscle, kidney
Type:protein-coding
Sets:V
PharmGKB ID:PA35918
HPRD ID:12137
Substrates:Small neutral amino acids, D-serine
Trivial Names:asc-1, HASC-1
Transcripts:NM_019849.2 [Chr.19(-): 33699570-33716756 GRCh37]
ENST00000253188 [Chr.19(-): 33699570-33716756 GRCh37]
ENST00000587064 [Chr.19(-): 33702333-33716704 GRCh37]
ENST00000590036 [Chr.19(-): 33699726-33716704 GRCh37]
ENST00000590490 [Chr.19(-): 33699682-33702595 GRCh37]
ENST00000592596 [Chr.19(-): 33702445-33716704 GRCh37]

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 SLC7A10.

Variant Data

View all PMT variants for SLC7A10 on UCSC Genome Browser
Showing SNP features for transcript: NM_019849  
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.