UCSF Pharmacogenetics of Membrane Transporters
Gene View
Common Name:CAT1
HGNC Symbol:SLC7A1
HGNC Description:solute carrier family 7 (cationic amino acid transporter, y+ system), member 1
HGNC ID:11057
Superfamily:SLC
Chromosome:Chr.13(-): 30083551-30169825 GRCh37
Location:13q12.3
OMIM:104615
OMIM Phenotype:None
Accessions:NM_003045
Nucleotide RefSeq:NM_003045
Protein RefSeq:NP_003036
Entrez:6541
Ensembl:ENSG00000139514
Isoforms:2
Evidence:Substrate In Vitro Evidence: Cationic amino acids in oocytes, more sensitive to trans-stimulation than other isoforms Closs et al 1997, Biochemistry, Vol 36 (21), p. 6462-8 Transports zwitterionic amino acids at low affinity Palacin et al 1998, Physiol Rev, Vol 78 (4) p.969-1054 Substrate In Vivo Evidence: CAT-1 K.O. mice die shortly after birth, and are smaller than littermates and have severe anemia Perkins et al 1997, Genes Dev, Vol 11, p.914-25 Verrey et al 2003, Pflugers Arch Tissue Distribution Evidence: Found in nearly all tissues except for adult liver (immunohistochemistry) Woodard et al 1994, Am J Physiol, Vol 266 (5 Pt1), E817-24 Verrey et al 2003, Pflugers Arch
Tissues:ubiquitous except for liver, plasma
Type:protein-coding
Sets:V
PharmGKB ID:PA35917
HPRD ID:00091
Substrates:cationic L-amino acids
Trivial Names:ERR, ATRC1, CAT-1, HCAT1, REC1L
Transcripts:NM_003045.4 [Chr.13(-): 30083551-30169825 GRCh37]
XM_005266507.1 [Chr.13(-): 30083551-30160929 GRCh37]
ENST00000380752 [Chr.13(-): 30083547-30169825 GRCh37]
ENST00000450494 [Chr.13(-): 30109961-30160929 GRCh37]
ENST00000473577 [Chr.13(-): 30091004-30093647 GRCh37]
Annotation History:View Events (10)

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 SLC7A1.

Variant Data

View all PMT variants for SLC7A1 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:

Non-synonymous amino acid changes shown in red, indels (insertions and deletions) in blue, and synonymous changes in green. Exon(s) indicated by black outlines.