Selected-GenAtlas references	SOURCE	GeneCards	NCBI Gene	Swiss-Prot	Ensembl
	HGNC	UniGene	Nucleotide	OMIM	UCSC

Home Page

FLASH GENE

Symbol

MECR

contributors: mct - updated : 18-01-2017

HGNC name	mitochondrial trans-2-enoyl-CoA reductase
HGNC id	19691

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Corresponding disease	DYTOABG dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities
Location	1p35.3      Physical location : 29.519.384 - 29.557.454
Synonym name	trans-2-enoyl-CoA reductase, mitochondrial
	nuclear receptor binding factor 1
Synonym symbol(s)	CGI-63, NRBF1, FASN2B
EC.number	1.3.1.38

DNA

TYPE	functioning gene
STRUCTURE	38.30 kb     10 Exon(s)

MAPPING

cloned

Y

linked

N

status

provisional

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_016011 10 - 2539 NP_057095 40 373 - 2014 25031892 NM_001024732 10 - 2666 NP_001019903 - 297 uniform distribution in the cytoplasm and nucleus of HeLa cells 2014 25031892 cMECR lacking the N-terminal 76 amino acids of MECR cMECR directly bound PPARA in the nucleus

EXPRESSION

Type

widely

expressed in	(based on citations)
organ(s)	System Organ level 1 Organ level 2 Organ level 3 Organ level 4 Level Pubmed Species Stage Rna symbol Digestive stomach       highly Lymphoid/Immune thymus       predominantly Reproductive female system ovary     highly   female system uterus cervix   highly Skin/Tegument skin       highly Visual eye       highly

cell lineage

cell lines

fluid/secretion

at STAGE

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains

mono polymer

homomer , dimer

HOMOLOGY

interspecies	ortholog to murine Nrbf1
	ortholog to rattus Nrbf1
	homolog to C. elegans ETR1

Homologene

FAMILY	zinc-containing alcohol dehydrogenase family
	quinone oxidoreductase subfamily

CATEGORY

receptor

SUBCELLULAR LOCALIZATION	intracellular
	intracellular,cytoplasm,organelle,mitochondria
	intracellular,nucleus

basic FUNCTION	acting as an alcohol dehydrogenase
	catalyzing the reduction of trans-2-enoyl-CoA to acyl-CoA with chain length from C6 to C16 in an NADPH-dependent manner with preference to medium chain length substrate
	catalyzes the NADPH-dependent reduction of trans-2-enoyl thioesters, generating saturated acyl-groups
	may have a role in the mitochondrial synthesis of fatty acids
	role of MECR in peroxisome-proliferator-activator-receptor (PPAR)-dependent signaling

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

lipid/lipoprotein

signaling

	fatty acid biosynthesis
	lipid synthesis
	involved in mitochondrial fatty acid synthesis (mtFASII), that may be involved in the regulation of bioactive lipid levels pathway

a component

INTERACTION

DNA

RNA

small molecule	metal binding, cofactor, nucleotide,
	Zn2+
	NADP

protein

binding protein of the nuclear hormone receptor peroxisome proliferator-activated receptor alpha (PPARA), but the presence of a cytosolic or nuclear isoform of MECR is necessary for functional interaction between MECR and PPARA

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

DYTOABG

Susceptibility

Variant & Polymorphism

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS

Mecr transgenic mice developed cardiac abnormalities (pMID: 1944339)