This gene encodes an enzyme that catalyzes the NAD/NADH-dependent, reversible oxidation of malate to oxaloacetate in many metabolic pathways, including the citric acid cycle. Two main isozymes are known to exist in eukaryotic cells: one is found in the mitochondrial matrix and the other in the cytoplasm. This gene encodes the cytosolic isozyme, which plays a key role in the malate-aspartate shuttle that allows malate to pass through the mitochondrial membrane to be transformed into oxaloacetate for further cellular processes. Alternatively spliced transcript variants have been found for this gene. A recent study showed that a C-terminally extended isoform is produced by use of an alternative in-frame translation termination codon via a stop codon readthrough mechanism, and that this isoform is localized in the peroxisomes. Pseudogenes have been identified on chromosomes X and 6. [provided by RefSeq, Feb 2016].
The following MDH1 gene cDNA ORF clone sequences were retrieved from the NCBI Reference Sequence Database (RefSeq). These sequences represent the protein coding region of the MDH1 cDNA ORF which is encoded by the open reading frame (ORF) sequence. ORF sequences can be delivered in our standard vector, pcDNA3.1+/C-(K)DYK or the vector of your choice as an expression/transfection-ready ORF clone. Not the clone you want? Click here to find your clone.
Comment: REVIEWED REFSEQ: This record has been curated by NCBI staff. The reference sequence was derived from BI667299.1, AK295931.1 and BC001484.2.
Transcript Variant: This variant (2) contains a different 5' terminal exon, which results in translation initiation from an alternate start codon compared to variant 1. The encoded isoform (2) is longer with a distinct N-terminus compared to isoform MDH1.
Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications.
##Evidence-Data-START##
Transcript exon combination :: SRR1163658.383670.1, SRR1163657.241771.1 [ECO:0000332]
RNAseq introns :: single sample supports all introns SAMEA1966682, SAMEA1968968 [ECO:0000348]
##Evidence-Data-END##
COMPLETENESS: complete on the 3' end.
Comment: REVIEWED REFSEQ: This record has been curated by NCBI staff. The reference sequence was derived from BI667299.1, AK300719.1 and BC001484.2.
Transcript Variant: This variant (3) lacks an exon in the 5' region, which results in translation initiation from an in-frame downstream start codon compared to variant 1. The encoded isoform (3) has a shorter N-terminus compared to isoform MDH1.
Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications.
##Evidence-Data-START##
Transcript exon combination :: AK300719.1 [ECO:0000332]
RNAseq introns :: single sample supports all introns SAMEA1970526, SAMEA2142348 [ECO:0000348]
##Evidence-Data-END##
COMPLETENESS: complete on the 3' end.
Comment: REVIEWED REFSEQ: This record has been curated by NCBI staff. The reference sequence was derived from CB266998.1 and BC001484.2. On Nov 20, 2010 this sequence version replaced NM_005917.2.
Transcript Variant: This variant (1) represents the predominant transcript and encodes two isoforms, which result from the use of alternative in-frame translation termination codons. The shorter isoform (MDH1) results from translation termination at the upstream UGA stop codon, while the longer isoform (MDH1x) results from UGA stop codon readthrough to the downstream UGA termination codon. This RefSeq represents the shorter isoform (MDH1), which is localized in the cytosol.
Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications.
##Evidence-Data-START##
Transcript exon combination :: SRR1803616.273195.1, SRR1163655.377309.1 [ECO:0000332]
RNAseq introns :: single sample supports all introns SAMEA1965299, SAMEA1966682 [ECO:0000348]
##Evidence-Data-END##
COMPLETENESS: complete on the 3' end.
Comment: REVIEWED REFSEQ: This record has been curated by NCBI staff. The reference sequence was derived from CB266998.1 and BC001484.2. On Nov 22, 2018 this sequence version replaced NM_005917.3.
Transcript Variant: This variant (1) represents the predominant transcript and encodes two isoforms, which result from the use of alternative in-frame translation termination codons. The shorter isoform (MDH1) results from translation termination at the upstream UGA stop codon, while the longer isoform (MDH1x) results from UGA stop codon readthrough to the downstream UGA termination codon. This RefSeq represents the shorter isoform (MDH1), which is localized in the cytosol.
Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications.
##Evidence-Data-START##
Transcript exon combination :: SRR3476690.1025765.1, SRR3476690.1059713.1 [ECO:0000332]
RNAseq introns :: single sample supports all introns SAMEA1965299, SAMEA1966682 [ECO:0000348]
##Evidence-Data-END##
##RefSeq-Attributes-START##
MANE Ensembl match :: ENST00000233114.13/ ENSP00000233114.8
RefSeq Select criteria :: based on conservation, expression
##RefSeq-Attributes-END##
COMPLETENESS: full length.
Comment: REVIEWED REFSEQ: This record has been curated by NCBI staff. The reference sequence was derived from CB266998.1 and BC001484.2. On May 31, 2019 this sequence version replaced NM_001316374.1.
Transcript Variant: This variant (1) represents the predominant transcript and encodes two isoforms, which result from the use of alternative in-frame translation termination codons. The shorter isoform (MDH1) results from translation termination at the upstream UGA stop codon, while the longer isoform (MDH1x) results from UGA stop codon readthrough to the downstream UGA termination codon. This RefSeq represents the longer, C-terminally extended isoform (MDH1x), which is localized in the peroxisomes. As the UGA stop codon has been reported to specify several alternative amino acids (tryptophan, cysteine, arginine and serine), its location in the longer isoform is denoted by an 'X'.
Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications.
##Evidence-Data-START##
Transcript exon combination :: SRR5189655.54585.1, SRR5189661.64373.1 [ECO:0000332]
RNAseq introns :: single sample supports all introns SAMEA1965299, SAMEA1966682 [ECO:0000348]
##Evidence-Data-END##
##RefSeq-Attributes-START##
stop codon readthrough :: PMID: 25340584
##RefSeq-Attributes-END##
COMPLETENESS: complete on the 3' end.
Comment: REVIEWED REFSEQ: This record has been curated by NCBI staff. The reference sequence was derived from CB266998.1 and BC001484.2.
Transcript Variant: This variant (1) represents the predominant transcript and encodes two isoforms, which result from the use of alternative in-frame translation termination codons. The shorter isoform (MDH1) results from translation termination at the upstream UGA stop codon, while the longer isoform (MDH1x) results from UGA stop codon readthrough to the downstream UGA termination codon. This RefSeq represents the longer, C-terminally extended isoform (MDH1x), which is localized in the peroxisomes. As the UGA stop codon has been reported to specify several alternative amino acids (tryptophan, cysteine, arginine and serine), its location in the longer isoform is denoted by an 'X'.
Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications.
##Evidence-Data-START##
Transcript exon combination :: SRR1803616.273195.1, SRR1163655.377309.1 [ECO:0000332]
RNAseq introns :: single sample supports all introns SAMEA1965299, SAMEA1966682 [ECO:0000348]
##Evidence-Data-END##
##RefSeq-Attributes-START##
stop codon readthrough :: PMID: 25340584
##RefSeq-Attributes-END##
COMPLETENESS: complete on the 3' end.
User Manual
NM_001199111.1
