UCSF Pharmacogenetics of Membrane Transporters
Gene View
Common Name:SLC36A1
HGNC Symbol:SLC36A1
HGNC Description:solute carrier family 36 (proton/amino acid symporter), member 1
HGNC ID:18761
Superfamily:SLC
Chromosome:Chr.5(+): 150816553-150871940 GRCh37
Location:5q33.1
OMIM:606561
OMIM Phenotype:None
Accessions:NM_078483
Nucleotide RefSeq:NM_078483
Protein RefSeq:NP_510968
Entrez:206358
Ensembl:ENSG00000123643
Isoforms:4
Evidence:Substrate In Vitro Evidence: 1. Cloned from Caco-2 cells. Expressed in human retinal pigment epithelial (HRPE) cells using vaccinia. Transports alpha-(methylamino)isobutyric acid (MeAIB), glycine, L-alanine, L-proline, AIB, and GABA. Transport is sodium-independent but energized by an inwardly-directed proton gradient. Chen, Z et al. J Physiol 2003 Jan 15, 546(part 2):349-61 PMID 12527723. 2. Murine PAT1 was expressed in xenopus oocytes for flux and electrophysiology studies. pH-dependent transport was demonstrated for glycine, alanine, and proline. Boll, M. et al. JBC 2002 Jun 21, 277(25):22966-73 PMID11959859. 3. Rat PAT1 was expressed in COS-7 cells, where it mediated the accumulation of neutral amino acids. Sagne, C et al. PNAS 2001 Jun 19, 98(13):7206-11 PMID 11390972. Tissue Distribution Evidence: 1. Northern blot revealed highest expression in the intestinal tract. Immunolocalization studies showed that the protein is expressed exclusively in the apical membrane of Caco-2 cells. Chen, Z et al. J Physiol 2003 Jan 15, 546(part 2):349-61 PMID 12527723. 2. Murine PAT1 mRNA is highly expressed in the small intestine, colon, kidney, and brain. Boll, M. et al. JBC 2002 Jun 21, 277(25):22966-73 PMID11959859.
Tissues:intestinal tract (apical membrane)
Type:protein-coding
Sets:V
PharmGKB ID:PA134870308
HPRD ID:07584
Substrates:MeAIB, glycine, alanine, proline, AIB, GABA
Trivial Names:Dct1, PAT1, LYAAT1, TRAMD3
Transcripts:NM_078483.2 [Chr.5(+): 150827163-150871940 GRCh37]
XM_005268386.1 [Chr.5(+): 150816553-150871940 GRCh37]
XM_005268387.1 [Chr.5(+): 150816553-150871940 GRCh37]
XM_005268388.1 [Chr.5(+): 150827157-150859705 GRCh37]
ENST00000243389 [Chr.5(+): 150827157-150871942 GRCh37]
ENST00000429484 [Chr.5(+): 150816647-150850520 GRCh37]
ENST00000517628 [Chr.5(+): 150853234-150859705 GRCh37]
ENST00000517945 [Chr.5(+): 150827188-150843181 GRCh37]
ENST00000519829 [Chr.5(+): 150830484-150843185 GRCh37]
ENST00000520111 [Chr.5(+): 150816607-150844139 GRCh37]
ENST00000520701 [Chr.5(+): 150816608-150868251 GRCh37]
ENST00000521351 [Chr.5(+): 150827362-150844710 GRCh37]
ENST00000521925 [Chr.5(+): 150827188-150859320 GRCh37]
ENST00000522185 [Chr.5(+): 150856150-150867830 GRCh37]
Annotation History:View Events (26)

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 SLC36A1.

Variant Data

View all PMT variants for SLC36A1 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.