This gene encodes a cytosolic, NADP-dependent enzyme that generates NADPH for fatty acid biosynthesis. The activity of this enzyme, the reversible oxidative decarboxylation of malate, links the glycolytic and citric acid cycles. The regulation of expression for this gene is complex. Increased expression can result from elevated levels of thyroid hormones or by higher proportion... See more...

Aliases for ME1 Gene

Aliases for ME1 Gene

  • Malic Enzyme 1 2 3 4 5
  • NADP-Dependent Malic Enzyme 2 3 4
  • Malate Dehydrogenase (Oxaloacetate-Decarboxylating) (NADP(+)) 2 3
  • Malic Enzyme 1, NADP(+)-Dependent, Cytosolic 2 3
  • EC 1.1.1.40 4 50
  • NADP-ME 3 4
  • Malic Enzyme, Cytoplasmic 3
  • Pyruvic-Malic Carboxylase 3
  • Malic Enzyme 1, Soluble 3
  • EC 1.1.1 50
  • HUMNDME 3
  • MES 3
  • ME1 5

External Ids for ME1 Gene

Previous GeneCards Identifiers for ME1 Gene

  • GC06M083867
  • GC06M083916
  • GC06M083977
  • GC06M083920
  • GC06M081148

Summaries for ME1 Gene

Entrez Gene Summary for ME1 Gene

  • This gene encodes a cytosolic, NADP-dependent enzyme that generates NADPH for fatty acid biosynthesis. The activity of this enzyme, the reversible oxidative decarboxylation of malate, links the glycolytic and citric acid cycles. The regulation of expression for this gene is complex. Increased expression can result from elevated levels of thyroid hormones or by higher proportions of carbohydrates in the diet. [provided by RefSeq, Jul 2008]

GeneCards Summary for ME1 Gene

ME1 (Malic Enzyme 1) is a Protein Coding gene. Among its related pathways are Carbon metabolism and PPAR signaling pathway. Gene Ontology (GO) annotations related to this gene include electron transfer activity and NAD binding. An important paralog of this gene is ME3.

Gene Wiki entry for ME1 Gene

No data available for CIViC Summary , UniProtKB/Swiss-Prot Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for ME1 Gene

Genomics for ME1 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for ME1 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH06J083428 Promoter/Enhancer 2.2 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas 258.8 +0.1 115 5.1 NCOR1 MYC IKZF1 ZNF600 ZNF592 POLR2A ZNF10 ZSCAN16 NFIC ZIC2 ME1 PRSS35 CEP162 ENSG00000219951 PGM3
GH06J083462 Enhancer 1.1 FANTOM5 Ensembl ENCODE 19.4 -35.4 -35422 8.2 ZNF600 BHLHE40 FEZF1 MAFF ZNF316 ZNF843 PRDM6 SPI1 MYC PKNOX1 PRSS35 ME1 CEP162 CYB5R4 piR-38580-293 HSALNG0051610-002 HSALNG0051610-001
GH06J083190 Promoter/Enhancer 2 EPDnew Ensembl ENCODE CraniofacialAtlas 4.4 +238.5 238452 5.2 BCLAF1 SP1 MYC ZNF600 ZNF580 POLR2A ZNF10 ZSCAN16 NFIC ZIC2 RWDD2A PGM3 lnc-ME1-1 DOP1A ME1 HSALNG0051604 HSALNG0051605 RF00017-5145
GH06J083442 Enhancer 0.8 Ensembl 7.7 -12.2 -12222 1.4 MYC NCOR1 IKZF1 NFIC HES1 ARNT TAL1 RUNX1 ZNF316 NFE2 HSALNG0051610-001 ME1 PRSS35
GH06J083271 Enhancer 0.9 Ensembl ENCODE 4.2 +159.5 159477 1.6 JUND BCL11A CEBPB EP300 STAT3 ZNF316 CBFB USF2 MAFK MAFG PRSS35 ME1 HSALNG0051608 MG828668-102 PGM3
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around ME1 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for ME1

Top Transcription factor binding sites by QIAGEN in the ME1 gene promoter:
  • AREB6
  • C/EBPalpha
  • COUP-TF1
  • CUTL1
  • FOXL1
  • HNF-4alpha1
  • HNF-4alpha2
  • p53
  • RORalpha1
  • S8

Genomic Locations for ME1 Gene

Latest Assembly
chr6:83,210,402-83,431,078
(GRCh38/hg38)
Size:
220,677 bases
Orientation:
Minus strand

Previous Assembly
chr6:83,920,121-84,140,770
(GRCh37/hg19 by Entrez Gene)
Size:
220,650 bases
Orientation:
Minus strand

chr6:83,920,108-84,140,797
(GRCh37/hg19 by Ensembl)
Size:
220,690 bases
Orientation:
Minus strand

Genomic View for ME1 Gene

Genes around ME1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ME1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ME1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ME1 Gene

Proteins for ME1 Gene

  • Protein details for ME1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P48163-MAOX_HUMAN
    Recommended name:
    NADP-dependent malic enzyme
    Protein Accession:
    P48163
    Secondary Accessions:
    • B4DZ70
    • Q16797
    • Q16855
    • Q53F72
    • Q5VWA2
    • Q9BWX8
    • Q9H1W3
    • Q9UIY4

    Protein attributes for ME1 Gene

    Size:
    572 amino acids
    Molecular mass:
    64150 Da
    Cofactor:
    Name=Mg(2+); Xref=ChEBI:CHEBI:18420;
    Cofactor:
    Name=Mn(2+); Xref=ChEBI:CHEBI:29035;
    Quaternary structure:
    • Homotetramer.

    Three dimensional structures from OCA and Proteopedia for ME1 Gene

    Alternative splice isoforms for ME1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for ME1 Gene

Selected DME Specific Peptides for ME1 Gene

P48163:
  • FASGSPF
  • NAFRLLNKYRN
  • GRLYPPL
  • YTPTVGLAC
  • LLKDPLY
  • GAGEAALGIA
  • VTDGERILGLGD
  • IFALSNPT
  • FASGSPFDPV
  • YIGLRQRR
  • TIRDVSL
  • GIPVGKL
  • GMGIPVGKLALYTACGG
  • FAHEHEEMKNLEAIVQ
  • GSPFDPV
  • LAALRITKN
  • LIQFEDFAN
  • FQGAGEAA
  • VYTPTVG
  • RILGLGDLG
  • FNDDIQGT
  • DSKGLIV
  • RNEKLFY
  • LNSDFDRYLLLMDLQDRNEKLFY

Post-translational modifications for ME1 Gene

  • Ubiquitination at Lys26 and Lys60
  • Modification sites at PhosphoSitePlus

Other Protein References for ME1 Gene

ENSEMBL proteins:
REFSEQ proteins:

Domains & Families for ME1 Gene

Gene Families for ME1 Gene

Human Protein Atlas (HPA):
  • Enzymes
  • Plasma proteins
  • Predicted intracellular proteins

Protein Domains for ME1 Gene

Suggested Antigen Peptide Sequences for ME1 Gene

GenScript: Design optimal peptide antigens:
  • Malic enzyme (B4DZ70_HUMAN)
  • Malic enzyme (F5H4W0_HUMAN)
  • Malic enzyme 1 (MAOX_HUMAN)
  • Cadherin (O15199_HUMAN)

Graphical View of Domain Structure for InterPro Entry

P48163

UniProtKB/Swiss-Prot:

MAOX_HUMAN :
  • Belongs to the malic enzymes family.
Family:
  • Belongs to the malic enzymes family.
genes like me logo Genes that share domains with ME1: view

Function for ME1 Gene

Molecular function for ME1 Gene

UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=(S)-malate + NADP(+) = CO2 + NADPH + pyruvate; Xref=Rhea:RHEA:18253, ChEBI:CHEBI:15361, ChEBI:CHEBI:15589, ChEBI:CHEBI:16526, ChEBI:CHEBI:57783, ChEBI:CHEBI:58349; EC=1.1.1.40;.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=H(+) + oxaloacetate = CO2 + pyruvate; Xref=Rhea:RHEA:15641, ChEBI:CHEBI:15361, ChEBI:CHEBI:15378, ChEBI:CHEBI:16452, ChEBI:CHEBI:16526; EC=1.1.1.40;.
GENATLAS Biochemistry:
malic enzyme 1,soluble

Enzyme Numbers (IUBMB) for ME1 Gene

Phenotypes From GWAS Catalog for ME1 Gene

Gene Ontology (GO) - Molecular Function for ME1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004470 malic enzyme activity IDA,IMP 23334421
GO:0004471 malate dehydrogenase (decarboxylating) (NAD+) activity IEA --
GO:0004473 malate dehydrogenase (decarboxylating) (NADP+) activity ISS --
GO:0008948 oxaloacetate decarboxylase activity IEA --
GO:0009055 electron transfer activity TAS 7622060
genes like me logo Genes that share ontologies with ME1: view
genes like me logo Genes that share phenotypes with ME1: view

miRNA for ME1 Gene

miRTarBase miRNAs that target ME1

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ME1

No data available for Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for ME1 Gene

Localization for ME1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for ME1 Gene

Cytoplasm.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for ME1 gene
Compartment Confidence
cytosol 5
mitochondrion 4
nucleus 4
plasma membrane 2
peroxisome 2
extracellular 1
cytoskeleton 1
endoplasmic reticulum 1
lysosome 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (3)
  • Nucleoplasm (1)
  • Plasma membrane (1)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for ME1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA --
GO:0005739 mitochondrion IBA 21873635
GO:0005829 cytosol TAS --
genes like me logo Genes that share ontologies with ME1: view

Pathways & Interactions for ME1 Gene

genes like me logo Genes that share pathways with ME1: view

Gene Ontology (GO) - Biological Process for ME1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005975 carbohydrate metabolic process NAS 8187880
GO:0006090 pyruvate metabolic process IBA,TAS --
GO:0006108 malate metabolic process IDA 7622060
GO:0009165 nucleotide biosynthetic process TAS 8187880
GO:0009725 response to hormone ISS --
genes like me logo Genes that share ontologies with ME1: view

No data available for SIGNOR curated interactions for ME1 Gene

Drugs & Compounds for ME1 Gene

(11) Drugs for ME1 Gene - From: DrugBank, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
NADH Approved Nutra Target 0
Carbon dioxide Approved, Investigational, Vet_approved Pharma 0
Magnesium Approved, Experimental, Investigational Pharma 0
Manganese Approved Nutra 65
Pyruvic acid Approved, Investigational Nutra 0

(4) Additional Compounds for ME1 Gene - From: HMDB and Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
Hydrogen Ion
  • H+
  • H(+)
  • Hydron
  • Hydrogen cation
  • Proton
Oxalacetic acid
  • 2-Oxobutanedioic acid
  • 2-Oxosuccinic acid
  • 3-Carboxy-3-oxopropanoic acid
  • Keto-succinic acid
  • Ketosuccinic acid
328-42-7
genes like me logo Genes that share compounds with ME1: view

Transcripts for ME1 Gene

mRNA/cDNA for ME1 Gene

1 REFSEQ mRNAs :
12 NCBI additional mRNA sequence :
1 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ME1

Alternative Splicing Database (ASD) splice patterns (SP) for ME1 Gene

No ASD Table

Relevant External Links for ME1 Gene

GeneLoc Exon Structure for
ME1

Expression for ME1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for ME1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for ME1 Gene

This gene is overexpressed in Adrenal Gland (x4.2).

Protein differential expression in normal tissues from HIPED for ME1 Gene

This gene is overexpressed in Retina (15.6), Brain (6.4), and Nasopharynx (6.3).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for ME1 Gene



Protein tissue co-expression partners for ME1 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for ME1

SOURCE GeneReport for Unigene cluster for ME1 Gene:

Hs.21160

mRNA Expression by UniProt/SwissProt for ME1 Gene:

P48163-MAOX_HUMAN
Tissue specificity: Expressed in all tissues tested including liver, placenta and white adipose tissue.

Evidence on tissue expression from TISSUES for ME1 Gene

  • Liver(4.5)
  • Skin(4.4)
  • Nervous system(4.2)
  • Muscle(2.3)
  • Heart(2.3)
genes like me logo Genes that share expression patterns with ME1: view

No data available for Phenotype-based relationships between genes and organs from Gene ORGANizer for ME1 Gene

Orthologs for ME1 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for ME1 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia ME1 29 30
  • 99.77 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia ME1 29 30
  • 92.31 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia ME1 29 30
  • 91.33 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Me1 29 16 30
  • 86.54 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Me1 29
  • 86.42 (n)
Platypus
(Ornithorhynchus anatinus)
Mammalia ME1 30
  • 82 (a)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia -- 30
  • 74 (a)
OneToMany
-- 30
  • 66 (a)
OneToMany
Chicken
(Gallus gallus)
Aves ME1 29 30
  • 76.88 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia ME1 30
  • 70 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia me1 29
  • 74.24 (n)
Str.5724 29
Zebrafish
(Danio rerio)
Actinopterygii ME1 (2 of 2) 30
  • 71 (a)
OneToMany
me1 30
  • 68 (a)
OneToMany
Fruit Fly
(Drosophila melanogaster)
Insecta Men 29 30 31
  • 56.77 (n)
ManyToMany
Mdh 31
  • 56 (a)
Men-b 30
  • 50 (a)
ManyToMany
Menl-1 30 31
  • 41 (a)
ManyToMany
Menl-2 30 31
  • 39 (a)
ManyToMany
CG7848 30 31
  • 31 (a)
ManyToMany
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP000184 29
  • 56.35 (n)
Worm
(Caenorhabditis elegans)
Secernentea Y48B6A.12 31
  • 52 (a)
men-1 30
  • 47 (a)
OneToMany
Baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes MAE1 30 32
  • 32 (a)
OneToMany
Thale Cress
(Arabidopsis thaliana)
eudicotyledons NADP-ME4 29
  • 57.24 (n)
Rice
(Oryza sativa)
Liliopsida Os05g0186300 29
  • 54 (n)
Os.421 29
Wheat
(Triticum aestivum)
Liliopsida Ta.7720 29
Bread mold
(Neurospora crassa)
Ascomycetes NCU03651 29
  • 50.19 (n)
Species where no ortholog for ME1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Squirt (Ciona savignyi)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)

Evolution for ME1 Gene

ENSEMBL:
Gene Tree for ME1 (if available)
TreeFam:
Gene Tree for ME1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for ME1: view image
Alliance of Genome Resources:
Additional Orthologs for ME1

Paralogs for ME1 Gene

Paralogs for ME1 Gene

genes like me logo Genes that share paralogs with ME1: view

Variants for ME1 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for ME1 Gene

SNP ID Clinical significance and condition Chr 06 pos Variation AA Info Type
rs116402692 Benign: not provided 83,223,772(-) G/A
NM_002395.6(ME1):c.1437C>T (p.Leu479=)
SYNONYMOUS

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for ME1 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Structural Variations from Database of Genomic Variants (DGV) for ME1 Gene

Variant ID Type Subtype PubMed ID
esv1011019 CNV insertion 20482838
esv1303011 CNV deletion 17803354
esv2660285 CNV deletion 23128226
esv2732363 CNV deletion 23290073
esv2732364 CNV deletion 23290073
esv3571274 CNV loss 25503493
esv3571275 CNV loss 25503493
esv3609774 CNV gain 21293372
esv3609775 CNV loss 21293372
esv3609776 CNV loss 21293372
nsv1129432 OTHER inversion 24896259
nsv1131995 CNV deletion 24896259
nsv1141517 CNV duplication 24896259
nsv823766 CNV gain 20364138
nsv970146 CNV duplication 23825009

Variation tolerance for ME1 Gene

Residual Variation Intolerance Score: 46.1% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.22; 52.36% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for ME1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
ME1
Leiden Open Variation Database (LOVD)
ME1

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ME1 Gene

Disorders for ME1 Gene

Additional Disease Information for ME1

Human Genome Epidemiology Navigator
(HuGE)
Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform

No disorders were found for ME1 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for ME1 Gene

Publications for ME1 Gene

  1. Cloning, sequencing and functional expression of a cDNA encoding a NADP-dependent malic enzyme from human liver. (PMID: 7622060) González-Manchón C … Parrilla R (Gene 1995) 3 4 22
  2. Characterization of cytosolic malic enzyme in human tumor cells. (PMID: 8187880) Loeber G … Ahorn H (FEBS letters 1994) 2 3 4
  3. Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression. (PMID: 20877624) Hendrickson SL … O'Brien SJ (PloS one 2010) 3 40
  4. Multiple genetic variants along candidate pathways influence plasma high-density lipoprotein cholesterol concentrations. (PMID: 18660489) Lu Y … Boer JM (Journal of lipid research 2008) 3 40
  5. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4

Products for ME1 Gene

Sources for ME1 Gene