MECR
entrez
51102
canonical
uniprot
Q9BV79
canonical
ensembl
ENSG00000116353
resolver
ensp
ENSP00000263702
resolver
ensp
ENSP00000362896
resolver
ensp
ENSP00000693013
resolver
ensp
ENSP00000782519
resolver
genesymbol
MECR
resolver
genesymbol_syn
NBRF1
resolver
hgnc
HGNC:19691
resolver
uniprot
B3KT72
resolver
uniprot
Q5SYU0
resolver
uniprot
Q5SYU1
resolver
uniprot
Q5SYU2
resolver
uniprot
Q6IBU9
resolver
uniprot
Q9Y373
resolver
uniprot_entry
MECR_HUMAN
resolver
uniprot_sec
B3KT72
resolver
uniprot_sec
Q5SYU0
resolver
uniprot_sec
Q5SYU1
resolver
uniprot_sec
Q5SYU2
resolver
uniprot_sec
Q6IBU9
resolver
uniprot_sec
Q9Y373
resolver
amino_acid_sequence
MWVCSTLWRVRTPARQWRGLLPASGCHGPAASSYSASAEPARVRALVYGHHGDPAKVVELKNLELAAVRGSDVRVKMLAAPINPSDINMIQGNYGFLPELPAVGGNEGVAQVVAVGSNVTGLKPGDWVIPANAGLGTWRTEAVFSEEALIQVPSDIPLQSAATLGVNPCTAYRMLMDFEQLQPGDSVIQNASNSGVGQAVIQIAAALGLRTINVVRDRPDIQKLSDRLKSLGAEHVITEEELRRPEMKNFFKDMPQPRLALNCVGGKSSTELLRQLARGGTMVTYGGMAKQPVVASVSLLIFKDLKLRGFWLSQWKKDHSPDQFKELILTLCDLIRRGQLTAPACSQVPLQDYQSALEASMKPFISSKQILTM
uniprot
proteins
disease_involvement
DISEASE: Dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities (DYTOABG) [MIM:617282]: An autosomal recessive neurologic disorder characterized by childhood-onset dystonia, basal ganglia degeneration and optic atrophy with decreased visual acuity. Dystonia is defined by the presence of sustained involuntary muscle contraction, often leading to abnormal postures. DYTOABG severity is variable, and some patients lose independent ambulation. {ECO:0000269|PubMed:27817865}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Optic atrophy 16 (OPA16) [MIM:620629]: A disease characterized by visual impairment in association with optic atrophy. Atrophy of the optic disk indicates a deficiency in the number of nerve fibers which arise in the retina and converge to form the optic disk, optic nerve, optic chiasm and optic tracts. OPA16 is an autosomal recessive form. Patients also show mild sensorineural hearing impairment. {ECO:0000269|PubMed:37734847}. Note=The disease may be caused by variants affecting the gene represented in this entry.
uniprot
proteins
ec_number
1.3.1.104
uniprot
proteins
function
FUNCTION: Catalyzes the NADPH-dependent reduction of trans-2-enoyl thioesters in mitochondrial fatty acid synthesis (fatty acid synthesis type II). Fatty acid chain elongation in mitochondria uses acyl carrier protein (ACP) as an acyl group carrier, but the enzyme accepts both ACP and CoA thioesters as substrates in vitro. Displays a preference for medium-chain over short- and long-chain substrates (PubMed:12654921, PubMed:18479707, PubMed:27817865). May provide the octanoyl chain used for lipoic acid biosynthesis, regulating protein lipoylation and mitochondrial respiratory activity particularly in Purkinje cells (By similarity). Involved in iron homeostasis; affecting Fe-S cluster assembly and ceramide metabolism (PubMed:37653044). Required for proper morphology and bioenergetic functions of mitochondria (PubMed:37653044). Required for maintenance of neurons (By similarity). {ECO:0000250|UniProtKB:Q9DCS3, ECO:0000250|UniProtKB:Q9V6U9, ECO:0000269|PubMed:12654921, ECO:0000269|PubMed:18479707, ECO:0000269|PubMed:27817865, ECO:0000269|PubMed:37653044}.
uniprot
proteins
mass_dalton
40462
uniprot
proteins
mutagenesis
MUTAGEN 85; /note="S->A: Reduces catalytic activity by 68%."; /evidence="ECO:0000269|PubMed:18479707"; MUTAGEN 94; /note="Y->F: Reduces catalytic activity by 95%. Strongly reduces affinity for trans-oct-2-enoyl-CoA."; /evidence="ECO:0000269|PubMed:18479707"; MUTAGEN 129; /note="I->M: Strongly increases activity with trans-oct-2-enoyl-CoA. No effect on activity with trans-tetradec-2-enoyl-CoA. Decreases activity with trans-hexadec-2-enoyl-CoA by 20%."; /evidence="ECO:0000269|PubMed:18479707"; MUTAGEN 165; /note="G->S: Strongly increases activity with trans-oct-2-enoyl-CoA. Decreases activity with trans-tetradec-2-enoyl-CoA by 73%. Decreases activity with trans-hexadec-2-enoyl-CoA by 80%."; /evidence="ECO:0000269|PubMed:18479707"; MUTAGEN 170; /note="T->A: Reduces catalytic activity by 69%."; /evidence="ECO:0000269|PubMed:18479707"; MUTAGEN 311; /note="W->A: Reduces catalytic activity by 98%. Strongly reduces affinity for trans-oct-2-enoyl-CoA."; /evidence="ECO:0000269|PubMed:18479707"; MUTAGEN 311; /note="W->L: Reduces catalytic activity by 87%. Strongly reduces affinity for trans-oct-2-enoyl-CoA."; /evidence="ECO:0000269|PubMed:18479707"; MUTAGEN 324; /note="F->Y: Strongly increases activity with trans-oct-2-enoyl-CoA. Decreases activity with trans-tetradec-2-enoyl-CoA by 25%. Decreases activity with trans-hexadec-2-enoyl-CoA by 68%."; /evidence="ECO:0000269|PubMed:18479707
uniprot
proteins
protein_family
Quinone oxidoreductase subfamily
uniprot
proteins
protein_family
Zinc-containing alcohol dehydrogenase family
uniprot
proteins
pubmed
10810093
uniprot
proteins
pubmed
12654921
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16710414
uniprot
proteins
pubmed
18479707
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
24275569
uniprot
proteins
pubmed
25031892
uniprot
proteins
pubmed
25944712
uniprot
proteins
pubmed
27817865
uniprot
proteins
pubmed
37653044
uniprot
proteins
pubmed
37734847
uniprot
proteins
sequence_length
373
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: [Isoform 1]: Mitochondrion {ECO:0000269|PubMed:12654921, ECO:0000269|PubMed:37653044}.; SUBCELLULAR LOCATION: [Isoform 2]: Cytoplasm {ECO:0000269|PubMed:25031892}. Nucleus {ECO:0000269|PubMed:25031892}.
uniprot
proteins