MECR

Protein identityUniProt · HPA

UniProt accession

Q9BV79

Gene

MECR

Ensembl

ENSG00000116353

Chromosome

1

Canonical length

373 aa

Protein class

Disease related genes, Enzymes, Human disease related genes, Metabolic proteins, Potential drug targets, Predicted intracellular proteins

Subcellular location

Mitochondria

Quaternary structure

Homodimer

OverviewNCBI Gene

The protein encoded by this gene is an oxidoreductase that catalyzes the last step in mitochondrial fatty acid synthesis. Defects in this gene are a cause of childhood-onset dystonia and optic atrophy. [provided by RefSeq, Mar 2017]

Canonical amino-acid sequenceUniProt

373 residues, UniProt reviewed canonical sequence.

>Q9BV79|MECR
     1  MWVCSTLWRV RTPARQWRGL LPASGCHGPA ASSYSASAEP ARVRALVYGH HGDPAKVVEL
    61  KNLELAAVRG SDVRVKMLAA PINPSDINMI QGNYGFLPEL PAVGGNEGVA QVVAVGSNVT
   121  GLKPGDWVIP ANAGLGTWRT EAVFSEEALI QVPSDIPLQS AATLGVNPCT AYRMLMDFEQ
   181  LQPGDSVIQN ASNSGVGQAV IQIAAALGLR TINVVRDRPD IQKLSDRLKS LGAEHVITEE
   241  ELRRPEMKNF FKDMPQPRLA LNCVGGKSST ELLRQLARGG TMVTYGGMAK QPVVASVSLL
   301  IFKDLKLRGF WLSQWKKDHS PDQFKELILT LCDLIRRGQL TAPACSQVPL QDYQSALEAS
   361  MKPFISSKQI LTM

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against MECR can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability

Intracellular

Secreted

No

Transmembrane segments

0

Mean surface accessibility (rSASA)

0.3

Highest tissue expression

9.2 nTPM

Expression across tissuesHPA

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about MECR.

Disease | AllUniProt

Conditions MECR is implicated in, by any mechanism.

• Dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities (DYTOABG) MIM:617282
• Optic atrophy 16 (OPA16) MIM:620629

Disease | GeneticClinVar

31 pathogenic / likely-pathogenic of 353 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

• Dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities
• Childhood Onset Dystonias
• Optic atrophy
• Optic atrophy 16
• Mitochondrial disease

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance)

0.85

gnomAD pLI

0

gnomAD missense Z

0.11

DepMap mean gene effect

-0.22

DepMap dependency class

selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 7% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

• ceramide biosynthetic process
• fatty acid biosynthetic process
• fatty acid metabolic process
• intracellular iron ion homeostasis

Molecular functions

• enoyl-[acyl-carrier-protein] reductase (NADPH) activity

Cellular components

• membrane
• mitochondrial matrix
• mitochondrion
• nucleus

Protein domainsUniProt · Pfam · InterPro

• GroES-like superfamily
• Alcohol dehydrogenase-like, C-terminal
• Alcohol dehydrogenase-like, N-terminal
• Enoylreductase domain
• NAD(P)-binding domain superfamily
• Zinc-binding dehydrogenase
• Alcohol dehydrogenase GroES-like domain
• Mitochondrial Enoyl-ACP Reductase

KeywordsUniProt

• Acetylation
• Cytoplasm
• Dystonia
• Fatty acid biosynthesis
• Fatty acid metabolism
• Lipid biosynthesis
• Lipid metabolism
• Mitochondrion
• NADP
• Nucleus
• Oxidoreductase
• Transit peptide

InteractionsUniProt · HPA

Protein binding partners of MECR in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

• PPARA