Substrate In Vitro Evidence:
The human MCT1 transporter has not been characterized in heterologous expression systems, but MCT1 activity has been studied using erythrocytes, which transport acetate, propionate, pyruvate, lactate, acetoacetate, and D-(-hydroxybutyrate with the properties of MCT transporters (Deuticke B. Monocarboxylate transport in erythrocytes. J Membr Biol 70:89-103, 1982).
When expressed in X. laevis oocytes, rat MCT1 transported lactate, pyruvate, acetoacetate, D-(-hydroxybutyrate, ?-oxoisohexanoate and ?-oxoisovalerate, as measured by the two-electrode voltage clamp technique with change in intracellular pH as the index of transport activity (Bröer S, Schneider HP, Bröer A, Rahman B, Hamprecht B, Deitmer JW. Biochem J 333:167-174, 1998).
Substrate In Vivo Evidence:
A defect in the efflux of lactate from muscle has been suggested as a cause of cryptic exercise intolerance, and mutations in the MCT1 gene have been identified in patients with this disease; however, a causal relationship between MCT1 mutations and cryptic exercise intolerance has not been established (reviewed in: Halestrap AP, Meredith D. The SLC16 gene family-from monocarboxylate transporters (MCTs) to aromatic amino acid transporters and beyond. Pflugers Arch, May 9, 2003 [Epub ahead of
Tissue Distribution Evidence:
MCT1 expression was detected in erythrocytes, cardiac muscle, intestine, skeletal muscle, sperm, and liver (low) (Garcia CK, Goldstein JL, Pathak RK, Anderson RG, Brown MS. Molecular characterization of a membrane transporter for lactate, pyruvate, and other monocarboxylates: implications for the Cori cycle. Cell 76(5):865-73, 1994).
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.
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.
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)