UCSF Pharmacogenetics of Membrane Transporters
Gene View
Common Name:AT1, ACATN
HGNC Symbol:SLC33A1
HGNC Description:solute carrier family 33 (acetyl-CoA transporter), member 1
HGNC ID:95
Superfamily:SLC
Chromosome:Chr.3(-): 155544300-155572248 GRCh37
Location:3q25.31
OMIM:603690
OMIM Phenotype:None
Accessions:D88152
Nucleotide RefSeq:NM_004733
Protein RefSeq:NP_004724
Entrez:9197
Ensembl:ENSG00000169359
Isoforms:2
Evidence:Substrate In Vitro Evidence: Acetyl-CoA, in semi-intact HeLa cells. Transfected cells showed a higher accumulation of acetyl-CoA than mock transfected cells Kanamori et al 1997, PNAS, Vol 94 (7), p. 2897-2902 Substrate In Vivo Evidence: C. elegans with a defective SLC33A1 gene are viable but developmentally compromised Hirabayashi et al 2003, Pflugers Arch Tissue Distribution Evidence: Found in all tissues examined by Northern Blot, immunohistochemical evidence indicates that SLC33A1 is probably expressed in the ER membrane and is involved in the process of O-acetylation. Kanamori et al 1997, PNAS, Vol 94 (7), p. 2897-2902
Tissues:brain, spinal cord, prostate, placenta, uterus, testis, thymus, trachea, ER
Type:protein-coding
Sets:0
PharmGKB ID:PA24432
HPRD ID:04734
Substrates:acetyl-CoA
Trivial Names:AT1, AT-1, ACATN, SPG42, CCHLND
Transcripts:NM_004733.3 [Chr.3(-): 155544300-155572248 GRCh37]
NM_001190992.1 [Chr.3(-): 155544300-155572248 GRCh37]
ENST00000359479 [Chr.3(-): 155544315-155572218 GRCh37]
ENST00000392845 [Chr.3(-): 155538813-155572167 GRCh37]
ENST00000460729 [Chr.3(-): 155562507-155571151 GRCh37]
ENST00000468581 [Chr.3(-): 155546017-155571106 GRCh37]
ENST00000475842 [Chr.3(-): 155545747-155571280 GRCh37]
ENST00000496772 [Chr.3(-): 155546002-155560394 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 SLC33A1.

Variant Data

View all PMT variants for SLC33A1 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.