UniProtKB - Q9BV79 (MECR_HUMAN)
Enoyl-[acyl-carrier-protein] reductase, mitochondrial
MECR
Functioni
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:18479707, PubMed:12654921, 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).
By similarity3 PublicationsCatalytic activityi
- EC:1.3.1.1042 PublicationsThis reaction proceeds in the backward2 Publications direction.
- This reaction proceeds in the forward1 Publication direction.
- This reaction proceeds in the forward1 Publication direction.
- This reaction proceeds in the forward1 Publication direction.
- This reaction proceeds in the forward1 Publication direction.
- This reaction proceeds in the forward1 Publication direction.
- This reaction proceeds in the forward1 Publication direction.
- This reaction proceeds in the forward1 Publication direction.
Kineticsi
- KM=74.2 µM for (2E)-butenoyl-CoA1 Publication
- KM=63.5 µM for (2E)-hexenoyl-CoA1 Publication
- KM=10.2 µM for (2E)-octenoyl-CoA1 Publication
- KM=10.4 µM for (2E)-decenoyl-CoA1 Publication
- KM=3.6 µM for (2E)-dodecenoyl-CoA1 Publication
- KM=4.3 µM for (2E)-tetradecenoyl-CoA1 Publication
- KM=6.6 µM for (2E)-hexadecenoyl-CoA1 Publication
- KM=37 µM for (2E)-hexenoyl-CoA1 Publication
- KM=7.1 µM for (2E)-decenoyl-CoA1 Publication
Sites
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Active sitei | 94 | Proton donorBy similarity | 1 | |
Binding sitei | 167 | NADPBy similarity | 1 | |
Binding sitei | 368 | NADPBy similarity | 1 |
Regions
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Nucleotide bindingi | 193 – 196 | NADPBy similarity | 4 | |
Nucleotide bindingi | 216 – 218 | NADPBy similarity | 3 | |
Nucleotide bindingi | 285 – 288 | NADPBy similarity | 4 | |
Nucleotide bindingi | 310 – 312 | NADPBy similarity | 3 |
GO - Molecular functioni
- trans-2-enoyl-CoA reductase (NADPH) activity Source: UniProtKB
GO - Biological processi
- fatty acid biosynthetic process Source: UniProtKB-KW
- fatty acid metabolic process Source: UniProtKB
Keywordsi
Molecular function | Oxidoreductase |
Biological process | Fatty acid biosynthesis, Fatty acid metabolism, Lipid biosynthesis, Lipid metabolism |
Ligand | NADP |
Enzyme and pathway databases
PathwayCommonsi | Q9BV79 |
Reactomei | R-HSA-77346, Beta oxidation of decanoyl-CoA to octanoyl-CoA-CoA |
SABIO-RKi | Q9BV79 |
SignaLinki | Q9BV79 |
Chemistry databases
SwissLipidsi | SLP:000001054 |
Names & Taxonomyi
Protein namesi | Recommended name: Enoyl-[acyl-carrier-protein] reductase, mitochondrialCurated (EC:1.3.1.1042 Publications)Alternative name(s): 2-enoyl thioester reductase2 Publications Nuclear receptor-binding factor 1 Short name: HsNrbf-1 Short name: NRBF-1 |
Gene namesi | Name:MECR Synonyms:NBRF1 ORF Names:CGI-63 |
Organismi | Homo sapiens (Human) |
Taxonomic identifieri | 9606 [NCBI] |
Taxonomic lineagei | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Proteomesi |
|
Organism-specific databases
HGNCi | HGNC:19691, MECR |
MIMi | 608205, gene |
neXtProti | NX_Q9BV79 |
VEuPathDBi | HostDB:ENSG00000116353 |
Subcellular locationi
Mitochondrion
- Mitochondrion 1 Publication
Mitochondrion
- mitochondrial matrix Source: Reactome
- mitochondrion Source: UniProtKB
Nucleus
- nucleus Source: UniProtKB-SubCell
Keywords - Cellular componenti
Cytoplasm, Mitochondrion, NucleusPathology & Biotechi
Involvement in diseasei
Dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities (DYTOABG)1 Publication
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_077997 | 232 | G → E in DYTOABG; probably decreased protein abundance. 1 PublicationCorresponds to variant dbSNP:rs762913101EnsemblClinVar. | 1 | |
Natural variantiVAR_077998 | 258 | R → W in DYTOABG. 1 PublicationCorresponds to variant dbSNP:rs145192716EnsemblClinVar. | 1 | |
Natural variantiVAR_077999 | 285 – 373 | Missing in DYTOABG; probably decreased protein abundance. 1 PublicationAdd BLAST | 89 | |
Natural variantiVAR_078000 | 285 | Y → C in DYTOABG. 1 PublicationCorresponds to variant dbSNP:rs759218713EnsemblClinVar. | 1 |
Mutagenesis
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Mutagenesisi | 85 | S → A: Reduces catalytic activity by 68%. 1 Publication | 1 | |
Mutagenesisi | 94 | Y → F: Reduces catalytic activity by 95%. Strongly reduces affinity for trans-oct-2-enoyl-CoA. 1 Publication | 1 | |
Mutagenesisi | 129 | 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%. 1 Publication | 1 | |
Mutagenesisi | 165 | 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%. 1 Publication | 1 | |
Mutagenesisi | 170 | T → A: Reduces catalytic activity by 69%. 1 Publication | 1 | |
Mutagenesisi | 311 | W → A: Reduces catalytic activity by 98%. Strongly reduces affinity for trans-oct-2-enoyl-CoA. 1 Publication | 1 | |
Mutagenesisi | 311 | W → L: Reduces catalytic activity by 87%. Strongly reduces affinity for trans-oct-2-enoyl-CoA. 1 Publication | 1 | |
Mutagenesisi | 324 | 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%. 1 Publication | 1 |
Keywords - Diseasei
Disease variant, DystoniaOrganism-specific databases
DisGeNETi | 51102 |
GeneReviewsi | MECR |
MalaCardsi | MECR |
MIMi | 617282, phenotype |
OpenTargetsi | ENSG00000116353 |
Orphaneti | 508093, MEPAN syndrome |
PharmGKBi | PA142671471 |
Miscellaneous databases
Pharosi | Q9BV79, Tbio |
Genetic variation databases
BioMutai | MECR |
DMDMi | 334302832 |
PTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Transit peptidei | 1 – 53 | MitochondrionSequence analysisAdd BLAST | 53 | |
ChainiPRO_0000000888 | 54 – 373 | Enoyl-[acyl-carrier-protein] reductase, mitochondrialAdd BLAST | 320 |
Amino acid modifications
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Modified residuei | 61 | N6-acetyllysine; alternateBy similarity | 1 | |
Modified residuei | 61 | N6-succinyllysine; alternateBy similarity | 1 | |
Modified residuei | 252 | N6-acetyllysine; alternateBy similarity | 1 | |
Modified residuei | 252 | N6-succinyllysine; alternateBy similarity | 1 | |
Modified residuei | 267 | N6-acetyllysine; alternateBy similarity | 1 | |
Modified residuei | 267 | N6-succinyllysine; alternateBy similarity | 1 | |
Modified residuei | 316 | N6-succinyllysineBy similarity | 1 |
Keywords - PTMi
AcetylationProteomic databases
EPDi | Q9BV79 |
jPOSTi | Q9BV79 |
MassIVEi | Q9BV79 |
MaxQBi | Q9BV79 |
PaxDbi | Q9BV79 |
PeptideAtlasi | Q9BV79 |
PRIDEi | Q9BV79 |
ProteomicsDBi | 79177 [Q9BV79-1] 79178 [Q9BV79-2] |
PTM databases
iPTMneti | Q9BV79 |
PhosphoSitePlusi | Q9BV79 |
Expressioni
Tissue specificityi
Gene expression databases
Bgeei | ENSG00000116353, Expressed in muscle of leg and 213 other tissues |
ExpressionAtlasi | Q9BV79, baseline and differential |
Genevisiblei | Q9BV79, HS |
Organism-specific databases
HPAi | ENSG00000116353, Tissue enhanced (skeletal) |
Interactioni
Subunit structurei
Protein-protein interaction databases
BioGRIDi | 119291, 28 interactors |
IntActi | Q9BV79, 4 interactors |
STRINGi | 9606.ENSP00000263702 |
Miscellaneous databases
RNActi | Q9BV79, protein |
Structurei
Secondary structure
3D structure databases
AlphaFoldDBi | Q9BV79 |
SMRi | Q9BV79 |
ModBasei | Search... |
PDBe-KBi | Search... |
Miscellaneous databases
EvolutionaryTracei | Q9BV79 |
Family & Domainsi
Sequence similaritiesi
Keywords - Domaini
Transit peptidePhylogenomic databases
eggNOGi | KOG0025, Eukaryota |
GeneTreei | ENSGT00940000156592 |
HOGENOMi | CLU_026673_17_1_1 |
InParanoidi | Q9BV79 |
OMAi | HQLCRAW |
OrthoDBi | 1269870at2759 |
PhylomeDBi | Q9BV79 |
TreeFami | TF312886 |
Family and domain databases
InterProi | View protein in InterPro IPR013149, ADH-like_C IPR013154, ADH_N IPR011032, GroES-like_sf IPR036291, NAD(P)-bd_dom_sf IPR020843, PKS_ER |
Pfami | View protein in Pfam PF08240, ADH_N, 1 hit PF00107, ADH_zinc_N, 1 hit |
SMARTi | View protein in SMART SM00829, PKS_ER, 1 hit |
SUPFAMi | SSF50129, SSF50129, 1 hit SSF51735, SSF51735, 1 hit |
s (2+)i Sequence
Sequence statusi: Complete.
: The displayed sequence is further processed into a mature form. Sequence processingi
This entry describes 2 produced by isoformsialternative splicing. AlignAdd to basketThis entry has 2 described isoforms and 1 potential isoform that is computationally mapped.Show allAlign All
This isoform has been chosen as the sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry. canonicali
10 20 30 40 50
MWVCSTLWRV RTPARQWRGL LPASGCHGPA ASSYSASAEP ARVRALVYGH
60 70 80 90 100
HGDPAKVVEL KNLELAAVRG SDVRVKMLAA PINPSDINMI QGNYGFLPEL
110 120 130 140 150
PAVGGNEGVA QVVAVGSNVT GLKPGDWVIP ANAGLGTWRT EAVFSEEALI
160 170 180 190 200
QVPSDIPLQS AATLGVNPCT AYRMLMDFEQ LQPGDSVIQN ASNSGVGQAV
210 220 230 240 250
IQIAAALGLR TINVVRDRPD IQKLSDRLKS LGAEHVITEE ELRRPEMKNF
260 270 280 290 300
FKDMPQPRLA LNCVGGKSST ELLRQLARGG TMVTYGGMAK QPVVASVSLL
310 320 330 340 350
IFKDLKLRGF WLSQWKKDHS PDQFKELILT LCDLIRRGQL TAPACSQVPL
360 370
QDYQSALEAS MKPFISSKQI LTM
Computationally mapped potential isoform sequencesi
There is 1 potential isoform mapped to this entry.BLASTAlignShow allAdd to basketH3BM30 | H3BM30_HUMAN | Enoyl-[acyl-carrier-protein] reduct... | MECR | 212 | Annotation score: |
Sequence cautioni
Experimental Info
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Sequence conflicti | 45 – 46 | AL → GV in AAD34058 (PubMed:10810093).Curated | 2 | |
Sequence conflicti | 373 | M → I in CAG32984 (PubMed:14702039).Curated | 1 |
Natural variant
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_027935 | 96 | F → L5 PublicationsCorresponds to variant dbSNP:rs1128400Ensembl. | 1 | |
Natural variantiVAR_055486 | 227 | R → K. Corresponds to variant dbSNP:rs11544658EnsemblClinVar. | 1 | |
Natural variantiVAR_077997 | 232 | G → E in DYTOABG; probably decreased protein abundance. 1 PublicationCorresponds to variant dbSNP:rs762913101EnsemblClinVar. | 1 | |
Natural variantiVAR_055487 | 258 | R → L. Corresponds to variant dbSNP:rs34835902EnsemblClinVar. | 1 | |
Natural variantiVAR_077998 | 258 | R → W in DYTOABG. 1 PublicationCorresponds to variant dbSNP:rs145192716EnsemblClinVar. | 1 | |
Natural variantiVAR_077999 | 285 – 373 | Missing in DYTOABG; probably decreased protein abundance. 1 PublicationAdd BLAST | 89 | |
Natural variantiVAR_078000 | 285 | Y → C in DYTOABG. 1 PublicationCorresponds to variant dbSNP:rs759218713EnsemblClinVar. | 1 |
Alternative sequence
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Alternative sequenceiVSP_041131 | 1 – 76 | Missing in isoform 2. 1 PublicationAdd BLAST | 76 |
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | AF151821 mRNA Translation: AAD34058.1 Frameshift. AK095099 mRNA Translation: BAG52984.1 CR456703 mRNA Translation: CAG32984.1 AL590729 Genomic DNA No translation available. CH471059 Genomic DNA Translation: EAX07655.1 BC001419 mRNA Translation: AAH01419.1 |
CCDSi | CCDS30659.1 [Q9BV79-1] CCDS30660.1 [Q9BV79-2] |
RefSeqi | NP_001019903.2, NM_001024732.2 [Q9BV79-2] NP_057095.3, NM_016011.3 [Q9BV79-1] XP_005245944.1, XM_005245887.2 XP_016856902.1, XM_017001413.1 [Q9BV79-2] XP_016856903.1, XM_017001414.1 XP_016856904.1, XM_017001415.1 |
Genome annotation databases
Ensembli | ENST00000263702.11; ENSP00000263702.6; ENSG00000116353.16 ENST00000373791.7; ENSP00000362896.3; ENSG00000116353.16 [Q9BV79-2] |
GeneIDi | 51102 |
KEGGi | hsa:51102 |
MANE-Selecti | ENST00000263702.11; ENSP00000263702.6; NM_016011.5; NP_057095.4 |
UCSCi | uc001brp.3, human [Q9BV79-1] |
Keywords - Coding sequence diversityi
Alternative splicingSimilar proteinsi
Cross-referencesi
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | AF151821 mRNA Translation: AAD34058.1 Frameshift. AK095099 mRNA Translation: BAG52984.1 CR456703 mRNA Translation: CAG32984.1 AL590729 Genomic DNA No translation available. CH471059 Genomic DNA Translation: EAX07655.1 BC001419 mRNA Translation: AAH01419.1 |
CCDSi | CCDS30659.1 [Q9BV79-1] CCDS30660.1 [Q9BV79-2] |
RefSeqi | NP_001019903.2, NM_001024732.2 [Q9BV79-2] NP_057095.3, NM_016011.3 [Q9BV79-1] XP_005245944.1, XM_005245887.2 XP_016856902.1, XM_017001413.1 [Q9BV79-2] XP_016856903.1, XM_017001414.1 XP_016856904.1, XM_017001415.1 |
3D structure databases
Select the link destinations: PDBei RCSB PDBi PDBji Links Updated | PDB entry | Method | Resolution (Å) | Chain | Positions | PDBsum |
1ZSY | X-ray | 1.75 | A | 40-373 | [»] | |
2VCY | X-ray | 2.41 | A/B | 31-373 | [»] | |
AlphaFoldDBi | Q9BV79 | |||||
SMRi | Q9BV79 | |||||
ModBasei | Search... | |||||
PDBe-KBi | Search... |
Protein-protein interaction databases
BioGRIDi | 119291, 28 interactors |
IntActi | Q9BV79, 4 interactors |
STRINGi | 9606.ENSP00000263702 |
Chemistry databases
SwissLipidsi | SLP:000001054 |
PTM databases
iPTMneti | Q9BV79 |
PhosphoSitePlusi | Q9BV79 |
Genetic variation databases
BioMutai | MECR |
DMDMi | 334302832 |
Proteomic databases
EPDi | Q9BV79 |
jPOSTi | Q9BV79 |
MassIVEi | Q9BV79 |
MaxQBi | Q9BV79 |
PaxDbi | Q9BV79 |
PeptideAtlasi | Q9BV79 |
PRIDEi | Q9BV79 |
ProteomicsDBi | 79177 [Q9BV79-1] 79178 [Q9BV79-2] |
Protocols and materials databases
Antibodypediai | 16646, 176 antibodies from 26 providers |
DNASUi | 51102 |
Genome annotation databases
Ensembli | ENST00000263702.11; ENSP00000263702.6; ENSG00000116353.16 ENST00000373791.7; ENSP00000362896.3; ENSG00000116353.16 [Q9BV79-2] |
GeneIDi | 51102 |
KEGGi | hsa:51102 |
MANE-Selecti | ENST00000263702.11; ENSP00000263702.6; NM_016011.5; NP_057095.4 |
UCSCi | uc001brp.3, human [Q9BV79-1] |
Organism-specific databases
CTDi | 51102 |
DisGeNETi | 51102 |
GeneCardsi | MECR |
GeneReviewsi | MECR |
HGNCi | HGNC:19691, MECR |
HPAi | ENSG00000116353, Tissue enhanced (skeletal) |
MalaCardsi | MECR |
MIMi | 608205, gene 617282, phenotype |
neXtProti | NX_Q9BV79 |
OpenTargetsi | ENSG00000116353 |
Orphaneti | 508093, MEPAN syndrome |
PharmGKBi | PA142671471 |
VEuPathDBi | HostDB:ENSG00000116353 |
GenAtlasi | Search... |
Phylogenomic databases
eggNOGi | KOG0025, Eukaryota |
GeneTreei | ENSGT00940000156592 |
HOGENOMi | CLU_026673_17_1_1 |
InParanoidi | Q9BV79 |
OMAi | HQLCRAW |
OrthoDBi | 1269870at2759 |
PhylomeDBi | Q9BV79 |
TreeFami | TF312886 |
Enzyme and pathway databases
PathwayCommonsi | Q9BV79 |
Reactomei | R-HSA-77346, Beta oxidation of decanoyl-CoA to octanoyl-CoA-CoA |
SABIO-RKi | Q9BV79 |
SignaLinki | Q9BV79 |
Miscellaneous databases
BioGRID-ORCSi | 51102, 93 hits in 1082 CRISPR screens |
ChiTaRSi | MECR, human |
EvolutionaryTracei | Q9BV79 |
GeneWikii | MECR |
GenomeRNAii | 51102 |
Pharosi | Q9BV79, Tbio |
PROi | PR:Q9BV79 |
RNActi | Q9BV79, protein |
SOURCEi | Search... |
Gene expression databases
Bgeei | ENSG00000116353, Expressed in muscle of leg and 213 other tissues |
ExpressionAtlasi | Q9BV79, baseline and differential |
Genevisiblei | Q9BV79, HS |
Family and domain databases
InterProi | View protein in InterPro IPR013149, ADH-like_C IPR013154, ADH_N IPR011032, GroES-like_sf IPR036291, NAD(P)-bd_dom_sf IPR020843, PKS_ER |
Pfami | View protein in Pfam PF08240, ADH_N, 1 hit PF00107, ADH_zinc_N, 1 hit |
SMARTi | View protein in SMART SM00829, PKS_ER, 1 hit |
SUPFAMi | SSF50129, SSF50129, 1 hit SSF51735, SSF51735, 1 hit |
MobiDBi | Search... |
Entry informationi
Entry namei | MECR_HUMAN | |
Accessioni | Q9BV79Primary (citable) accession number: Q9BV79 Secondary accession number(s): B3KT72 Q9Y373 | |
Entry historyi | Integrated into UniProtKB/Swiss-Prot: | April 26, 2005 |
Last sequence update: | May 31, 2011 | |
Last modified: | May 25, 2022 | |
This is version 171 of the entry and version 2 of the sequence. See complete history. | ||
Entry statusi | Reviewed (UniProtKB/Swiss-Prot) | |
Annotation program | Chordata Protein Annotation Program | |
Disclaimer | Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care. |
Miscellaneousi
Keywords - Technical termi
3D-structure, Reference proteomeDocuments
- Human chromosome 1
Human chromosome 1: entries, gene names and cross-references to MIM - Human entries with genetic variants
List of human entries with genetic variants - Human variants curated from literature reports
Index of human variants curated from literature reports - MIM cross-references
Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot - PDB cross-references
Index of Protein Data Bank (PDB) cross-references - SIMILARITY comments
Index of protein domains and families