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UniProtKB - Q9BV79 (MECR_HUMAN)

Entry version 171 (25 May 2022)
Sequence version 2 (31 May 2011)
Previous versions | rss
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Protein

Enoyl-[acyl-carrier-protein] reductase, mitochondrial

Gene

MECR

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score:

Annotation score:5 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>-Experimental evidence at protein leveli <p>This indicates the type of evidence that supports the existence of the protein. Note that the 'protein existence' evidence does not give information on the accuracy or correctness of the sequence(s) displayed.<p><a href='/help/protein_existence' target='_top'>More...</a></p>

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>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 Publications

<p>This subsection of the <a href="http://www.uniprot.org/help/function%5Fsection">Function</a> section describes the catalytic activity of an enzyme, i.e. a chemical reaction that the enzyme catalyzes.<p><a href='/help/catalytic_activity' target='_top'>More...</a></p>Catalytic activityi

<p>This subsection of the 'Function' section describes biophysical and chemical properties, such as maximal absorption, kinetic parameters, pH dependence, redox potentials and temperature dependence.<p><a href='/help/biophysicochemical_properties' target='_top'>More...</a></p>Kineticsi

  1. KM=74.2 µM for (2E)-butenoyl-CoA1 Publication
  2. KM=63.5 µM for (2E)-hexenoyl-CoA1 Publication
  3. KM=10.2 µM for (2E)-octenoyl-CoA1 Publication
  4. KM=10.4 µM for (2E)-decenoyl-CoA1 Publication
  5. KM=3.6 µM for (2E)-dodecenoyl-CoA1 Publication
  6. KM=4.3 µM for (2E)-tetradecenoyl-CoA1 Publication
  7. KM=6.6 µM for (2E)-hexadecenoyl-CoA1 Publication
  8. KM=37 µM for (2E)-hexenoyl-CoA1 Publication
  9. KM=7.1 µM for (2E)-decenoyl-CoA1 Publication

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/function%5Fsection">Function</a> section is used for enzymes and indicates the residues directly involved in catalysis.<p><a href='/help/act_site' target='_top'>More...</a></p>Active sitei94Proton donorBy similarity1
<p>This subsection of the <a href="http://www.uniprot.org/help/function%5Fsection">Function</a> section describes the interaction between a single amino acid and another chemical entity. Priority is given to the annotation of physiological ligands.<p><a href='/help/binding' target='_top'>More...</a></p>Binding sitei167NADPBy similarity1
Binding sitei368NADPBy similarity1

Regions

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/function%5Fsection">Function</a> section describes a region in the protein which binds nucleotide phosphates. It always involves more than one amino acid and includes all residues involved in nucleotide-binding.<p><a href='/help/np_bind' target='_top'>More...</a></p>Nucleotide bindingi193 – 196NADPBy similarity4
Nucleotide bindingi216 – 218NADPBy similarity3
Nucleotide bindingi285 – 288NADPBy similarity4
Nucleotide bindingi310 – 312NADPBy similarity3

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Molecular functioni

Complete GO annotation on QuickGO ...

GO - Biological processi

Complete GO annotation on QuickGO ...

<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywordsi

Molecular functionOxidoreductase
Biological processFatty acid biosynthesis, Fatty acid metabolism, Lipid biosynthesis, Lipid metabolism
LigandNADP

Enzyme and pathway databases

Pathway Commons web resource for biological pathway data

More...PathwayCommonsi		Q9BV79

Reactome - a knowledgebase of biological pathways and processes

More...Reactomei		R-HSA-77346, Beta oxidation of decanoyl-CoA to octanoyl-CoA-CoA

SABIO-RK: Biochemical Reaction Kinetics Database

More...SABIO-RKi		Q9BV79

SignaLink: a signaling pathway resource with multi-layered regulatory networks

More...SignaLinki		Q9BV79

Chemistry databases

SwissLipids knowledge resource for lipid biology

More...SwissLipidsi		SLP:000001054

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>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
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: 'Name', 'Synonyms', 'Ordered locus names' and 'ORF names'.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi
Name:MECR
Synonyms:NBRF1
ORF Names:CGI-63
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the 'taxonomic identifier' or 'taxid'.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes%5Fmanual">proteome</a> can consist of several components.<br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome 1

Organism-specific databases

Human Gene Nomenclature Database

More...HGNCi		HGNC:19691, MECR

Online Mendelian Inheritance in Man (OMIM)

More...MIMi		608205, gene

neXtProt; the human protein knowledge platform

More...neXtProti		NX_Q9BV79

Eukaryotic Pathogen, Vector and Host Database Resources

More...VEuPathDBi		HostDB:ENSG00000116353

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>Subcellular locationi

Keywords - Cellular componenti

Cytoplasm, Mitochondrion, Nucleus

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

<p>This subsection of the 'Pathology and Biotech' section provides information on the disease(s) associated with genetic variations in a given protein. The information is extracted from the scientific literature and diseases that are also described in the <a href="http://www.ncbi.nlm.nih.gov/sites/entrez?db=omim">OMIM</a> database are represented with a <a href="http://www.uniprot.org/diseases">controlled vocabulary</a> in the following way:<p><a href='/help/involvement_in_disease' target='_top'>More...</a></p>Involvement in diseasei

Dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities (DYTOABG)1 Publication
The disease is caused by variants affecting the gene represented in this entry.
Disease descriptionAn 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.
Related information in OMIM
Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Sequence' section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_077997232G → E in DYTOABG; probably decreased protein abundance. 1 PublicationCorresponds to variant dbSNP:rs762913101EnsemblClinVar.1
Natural variantiVAR_077998258R → W in DYTOABG. 1 PublicationCorresponds to variant dbSNP:rs145192716EnsemblClinVar.1
Natural variantiVAR_077999285 – 373Missing in DYTOABG; probably decreased protein abundance. 1 PublicationAdd BLAST89
Natural variantiVAR_078000285Y → C in DYTOABG. 1 PublicationCorresponds to variant dbSNP:rs759218713EnsemblClinVar.1

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/manual/pathology%5Fand%5Fbiotech%5Fsection">'Pathology and Biotech'</a> section describes the effect of the experimental mutation of one or more amino acid(s) on the biological properties of the protein.<p><a href='/help/mutagen' target='_top'>More...</a></p>Mutagenesisi85S → A: Reduces catalytic activity by 68%. 1 Publication1
Mutagenesisi94Y → F: Reduces catalytic activity by 95%. Strongly reduces affinity for trans-oct-2-enoyl-CoA. 1 Publication1
Mutagenesisi129I → 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 Publication1
Mutagenesisi165G → 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 Publication1
Mutagenesisi170T → A: Reduces catalytic activity by 69%. 1 Publication1
Mutagenesisi311W → A: Reduces catalytic activity by 98%. Strongly reduces affinity for trans-oct-2-enoyl-CoA. 1 Publication1
Mutagenesisi311W → L: Reduces catalytic activity by 87%. Strongly reduces affinity for trans-oct-2-enoyl-CoA. 1 Publication1
Mutagenesisi324F → 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 Publication1

Keywords - Diseasei

Disease variant, Dystonia

Organism-specific databases

DisGeNET

More...DisGeNETi		51102

GeneReviews a resource of expert-authored, peer-reviewed disease descriptions.

More...GeneReviewsi		MECR

MalaCards human disease database

More...MalaCardsi		MECR
MIMi617282, phenotype

Open Targets

More...OpenTargetsi		ENSG00000116353

Orphanet; a database dedicated to information on rare diseases and orphan drugs

More...Orphaneti		508093, MEPAN syndrome

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...PharmGKBi		PA142671471

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...Pharosi		Q9BV79, Tbio

Genetic variation databases

BioMuta curated single-nucleotide variation and disease association database

More...BioMutai		MECR

Domain mapping of disease mutations (DMDM)

More...DMDMi		334302832

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'PTM / Processing' section describes the extent of a transit peptide.<p><a href='/help/transit' target='_top'>More...</a></p>Transit peptidei1 – 53MitochondrionSequence analysisAdd BLAST53
<p>This subsection of the 'PTM / Processing' section describes the extent of a polypeptide chain in the mature protein following processing or proteolytic cleavage.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_000000088854 – 373Enoyl-[acyl-carrier-protein] reductase, mitochondrialAdd BLAST320

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'PTM / Processing' section specifies the position and type of each modified residue excluding <a href="http://www.uniprot.org/manual/lipid">lipids</a>, <a href="http://www.uniprot.org/manual/carbohyd">glycans</a> and <a href="http://www.uniprot.org/manual/crosslnk">protein cross-links</a>.<p><a href='/help/mod_res' target='_top'>More...</a></p>Modified residuei61N6-acetyllysine; alternateBy similarity1
Modified residuei61N6-succinyllysine; alternateBy similarity1
Modified residuei252N6-acetyllysine; alternateBy similarity1
Modified residuei252N6-succinyllysine; alternateBy similarity1
Modified residuei267N6-acetyllysine; alternateBy similarity1
Modified residuei267N6-succinyllysine; alternateBy similarity1
Modified residuei316N6-succinyllysineBy similarity1

Keywords - PTMi

Acetylation

Proteomic databases

Encyclopedia of Proteome Dynamics

More...EPDi		Q9BV79

jPOST - Japan Proteome Standard Repository/Database

More...jPOSTi		Q9BV79

MassIVE - Mass Spectrometry Interactive Virtual Environment

More...MassIVEi		Q9BV79

MaxQB - The MaxQuant DataBase

More...MaxQBi		Q9BV79

PaxDb, a database of protein abundance averages across all three domains of life

More...PaxDbi		Q9BV79

PeptideAtlas

More...PeptideAtlasi		Q9BV79

PRoteomics IDEntifications database

More...PRIDEi		Q9BV79

ProteomicsDB: a multi-organism proteome resource

More...ProteomicsDBi		79177 [Q9BV79-1]
79178 [Q9BV79-2]

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...iPTMneti		Q9BV79

Comprehensive resource for the study of protein post-translational modifications (PTMs) in human, mouse and rat.

More...PhosphoSitePlusi		Q9BV79

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

<p>This subsection of the 'Expression' section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms. By default, the information is derived from experiments at the mRNA level, unless specified 'at protein level'.<br></br>Examples: <a href="http://www.uniprot.org/uniprot/P92958#expression">P92958</a>, <a href="http://www.uniprot.org/uniprot/Q8TDN4#expression">Q8TDN4</a>, <a href="http://www.uniprot.org/uniprot/O14734#expression">O14734</a><p><a href='/help/tissue_specificity' target='_top'>More...</a></p>Tissue specificityi

Highly expressed in skeletal and heart muscle. Expressed at lower level in placenta, liver, kidney and pancreas. Weakly or not expressed in lung.1 Publication

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...Bgeei		ENSG00000116353, Expressed in muscle of leg and 213 other tissues

ExpressionAtlas, Differential and Baseline Expression

More...ExpressionAtlasi		Q9BV79, baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...Genevisiblei		Q9BV79, HS

Organism-specific databases

Human Protein Atlas

More...HPAi		ENSG00000116353, Tissue enhanced (skeletal)

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

<p>This subsection of the <a href="http://www.uniprot.org/help/interaction%5Fsection">'Interaction'</a> section provides information about the protein quaternary structure and interaction(s) with other proteins or protein complexes (with the exception of physiological receptor-ligand interactions which are annotated in the <a href="http://www.uniprot.org/help/function%5Fsection">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>Subunit structurei

Homodimer (PubMed:12654921, PubMed:18479707).

Isoform 2 interacts with PPARA in the nucleus and increases its activity (By similarity).

By similarity2 Publications

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGRID)

More...BioGRIDi		119291, 28 interactors

Protein interaction database and analysis system

More...IntActi		Q9BV79, 4 interactors

STRING: functional protein association networks

More...STRINGi		9606.ENSP00000263702

Miscellaneous databases

RNAct, Protein-RNA interaction predictions for model organisms.

More...RNActi		Q9BV79, protein

<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei

Secondary structure

1373
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details

3D structure databases

AlphaFold Protein Structure Database

More...AlphaFoldDBi		Q9BV79

SWISS-MODEL Repository - a database of annotated 3D protein structure models

More...SMRi		Q9BV79

Database of comparative protein structure models

More...ModBasei		Search...

Protein Data Bank in Europe - Knowledge Base

More...PDBe-KBi		Search...

Miscellaneous databases

Relative evolutionary importance of amino acids within a protein sequence

More...EvolutionaryTracei		Q9BV79

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

<p>This subsection of the 'Family and domains' section provides information about the sequence similarity with other proteins.<p><a href='/help/sequence_similarities' target='_top'>More...</a></p>Sequence similaritiesi

Belongs to the zinc-containing alcohol dehydrogenase family. Quinone oxidoreductase subfamily.Curated

Keywords - Domaini

Transit peptide

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...eggNOGi		KOG0025, Eukaryota

Ensembl GeneTree

More...GeneTreei		ENSGT00940000156592

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...HOGENOMi		CLU_026673_17_1_1

InParanoid: Eukaryotic Ortholog Groups

More...InParanoidi		Q9BV79

Identification of Orthologs from Complete Genome Data

More...OMAi		HQLCRAW

Database of Orthologous Groups

More...OrthoDBi		1269870at2759

Database for complete collections of gene phylogenies

More...PhylomeDBi		Q9BV79

TreeFam database of animal gene trees

More...TreeFami		TF312886

Family and domain databases

Integrated resource of protein families, domains and functional sites

More...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

Pfam protein domain database

More...Pfami		View protein in Pfam
PF08240, ADH_N, 1 hit
PF00107, ADH_zinc_N, 1 hit

Simple Modular Architecture Research Tool; a protein domain database

More...SMARTi		View protein in SMART
SM00829, PKS_ER, 1 hit

Superfamily database of structural and functional annotation

More...SUPFAMi		SSF50129, SSF50129, 1 hit
SSF51735, SSF51735, 1 hit

<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence%5Flength">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>. The information is filed in different subsections. The current subsections and their content are listed below:<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequences (2+)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences%5Fsection">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>Sequence statusi: Complete.

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences%5Fsection">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">canonical sequence</a> displayed by default in the entry is in its mature form or if it represents the precursor.<p><a href='/help/sequence_processing' target='_top'>More...</a></p>Sequence processingi: The displayed sequence is further processed into a mature form.

This entry describes 2 <p>This subsection of the 'Sequence' section lists the alternative protein sequences (isoforms) that can be generated from the same gene by a single or by the combination of up to four biological events (alternative promoter usage, alternative splicing, alternative initiation and ribosomal frameshifting). Additionally, this section gives relevant information on each alternative protein isoform.<p><a href='/help/alternative_products' target='_top'>More...</a></p> isoformsi produced by alternative splicing. AlignAdd to basket

This entry has 2 described isoforms and 1 potential isoform that is computationally mapped.Show allAlign All

Isoform 1 (identifier: Q9BV79-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the <p><strong>What is the canonical sequence?</strong><p><a href='/help/canonical_and_isoforms' target='_top'>More...</a></p>canonicali sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide
        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
Length:373
Mass (Da):40,462
Last modified:May 31, 2011 - v2
<p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> Checksum:iDB13F6B0ED54A823
GO
Isoform 2 (identifier: Q9BV79-2) [UniParc]FASTAAdd to basket
Also known as: cMECR

The sequence of this isoform differs from the canonical sequence as follows:
     1-76: Missing.

Show »
Length:297
Mass (Da):32,228
Checksum:i1A27621E27728B76
GO

<p>In eukaryotic reference proteomes, unreviewed entries that are likely to belong to the same gene are computationally mapped, based on gene identifiers from Ensembl, EnsemblGenomes and model organism databases.<p><a href='/help/gene_centric_isoform_mapping' target='_top'>More...</a></p>Computationally mapped potential isoform sequencesi

There is 1 potential isoform mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
H3BM30H3BM30_HUMAN
Enoyl-[acyl-carrier-protein] reduct...
MECR
212Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>

<p>This subsection of the 'Sequence' section reports difference(s) between the protein sequence shown in the UniProtKB entry and other available protein sequences derived from the same gene.<p><a href='/help/sequence_caution' target='_top'>More...</a></p>Sequence cautioni

The sequence AAD34058 differs from that shown. Reason: Frameshift.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Sequence' section reports difference(s) between the canonical sequence (displayed by default in the entry) and the different sequence submissions merged in the entry. These various submissions may originate from different sequencing projects, different types of experiments, or different biological samples. Sequence conflicts are usually of unknown origin.<p><a href='/help/conflict' target='_top'>More...</a></p>Sequence conflicti45 – 46AL → GV in AAD34058 (PubMed:10810093).Curated2
Sequence conflicti373M → I in CAG32984 (PubMed:14702039).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_02793596F → L5 PublicationsCorresponds to variant dbSNP:rs1128400Ensembl.1
Natural variantiVAR_055486227R → K. Corresponds to variant dbSNP:rs11544658EnsemblClinVar.1
Natural variantiVAR_077997232G → E in DYTOABG; probably decreased protein abundance. 1 PublicationCorresponds to variant dbSNP:rs762913101EnsemblClinVar.1
Natural variantiVAR_055487258R → L. Corresponds to variant dbSNP:rs34835902EnsemblClinVar.1
Natural variantiVAR_077998258R → W in DYTOABG. 1 PublicationCorresponds to variant dbSNP:rs145192716EnsemblClinVar.1
Natural variantiVAR_077999285 – 373Missing in DYTOABG; probably decreased protein abundance. 1 PublicationAdd BLAST89
Natural variantiVAR_078000285Y → C in DYTOABG. 1 PublicationCorresponds to variant dbSNP:rs759218713EnsemblClinVar.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Sequence' section describes the sequence of naturally occurring alternative protein isoform(s). The changes in the amino acid sequence may be due to alternative splicing, alternative promoter usage, alternative initiation, or ribosomal frameshifting.<p><a href='/help/var_seq' target='_top'>More...</a></p>Alternative sequenceiVSP_0411311 – 76Missing in isoform 2. 1 PublicationAdd BLAST76

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

More...EMBLi

GenBank nucleotide sequence database

More...GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...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

The Consensus CDS (CCDS) project

More...CCDSi		CCDS30659.1 [Q9BV79-1]
CCDS30660.1 [Q9BV79-2]

NCBI Reference Sequences

More...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

Ensembl eukaryotic genome annotation project

More...Ensembli		ENST00000263702.11; ENSP00000263702.6; ENSG00000116353.16
ENST00000373791.7; ENSP00000362896.3; ENSG00000116353.16 [Q9BV79-2]

Database of genes from NCBI RefSeq genomes

More...GeneIDi		51102

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...KEGGi		hsa:51102

Matched Annotation from NCBI and EMBL-EBI (MANE) - Phase one

More...MANE-Selecti		ENST00000263702.11; ENSP00000263702.6; NM_016011.5; NP_057095.4

UCSC genome browser

More...UCSCi		uc001brp.3, human [Q9BV79-1]

Keywords - Coding sequence diversityi

Alternative splicing

<p>This section provides links to proteins that are similar to the protein sequence(s) described in this entry at different levels of sequence identity thresholds (100%, 90% and 50%) based on their membership in UniProt Reference Clusters (<a href="http://www.uniprot.org/help/uniref">UniRef</a>).<p><a href='/help/similar_proteins_section' target='_top'>More...</a></p>Similar proteinsi

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>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
CCDSiCCDS30659.1 [Q9BV79-1]
CCDS30660.1 [Q9BV79-2]
RefSeqiNP_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:

Protein Data Bank Europe

More...PDBei

Protein Data Bank RCSB

More...RCSB PDBi

Protein Data Bank Japan

More...PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
1ZSYX-ray1.75A40-373[»]
2VCYX-ray2.41A/B31-373[»]
AlphaFoldDBiQ9BV79
SMRiQ9BV79
ModBaseiSearch...
PDBe-KBiSearch...

Protein-protein interaction databases

BioGRIDi119291, 28 interactors
IntActiQ9BV79, 4 interactors
STRINGi9606.ENSP00000263702

Chemistry databases

SwissLipidsiSLP:000001054

PTM databases

iPTMnetiQ9BV79
PhosphoSitePlusiQ9BV79

Genetic variation databases

BioMutaiMECR
DMDMi334302832

Proteomic databases

EPDiQ9BV79
jPOSTiQ9BV79
MassIVEiQ9BV79
MaxQBiQ9BV79
PaxDbiQ9BV79
PeptideAtlasiQ9BV79
PRIDEiQ9BV79
ProteomicsDBi79177 [Q9BV79-1]
79178 [Q9BV79-2]

Protocols and materials databases

Antibodypedia a portal for validated antibodies

More...Antibodypediai		16646, 176 antibodies from 26 providers

The DNASU plasmid repository

More...DNASUi		51102

Genome annotation databases

EnsembliENST00000263702.11; ENSP00000263702.6; ENSG00000116353.16
ENST00000373791.7; ENSP00000362896.3; ENSG00000116353.16 [Q9BV79-2]
GeneIDi51102
KEGGihsa:51102
MANE-SelectiENST00000263702.11; ENSP00000263702.6; NM_016011.5; NP_057095.4
UCSCiuc001brp.3, human [Q9BV79-1]

Organism-specific databases

Comparative Toxicogenomics Database

More...CTDi		51102
DisGeNETi51102

GeneCards: human genes, protein and diseases

More...GeneCardsi		MECR
GeneReviewsiMECR
HGNCiHGNC:19691, MECR
HPAiENSG00000116353, Tissue enhanced (skeletal)
MalaCardsiMECR
MIMi608205, gene
617282, phenotype
neXtProtiNX_Q9BV79
OpenTargetsiENSG00000116353
Orphaneti508093, MEPAN syndrome
PharmGKBiPA142671471
VEuPathDBiHostDB:ENSG00000116353

GenAtlas: human gene database

More...GenAtlasi		Search...

Phylogenomic databases

eggNOGiKOG0025, Eukaryota
GeneTreeiENSGT00940000156592
HOGENOMiCLU_026673_17_1_1
InParanoidiQ9BV79
OMAiHQLCRAW
OrthoDBi1269870at2759
PhylomeDBiQ9BV79
TreeFamiTF312886

Enzyme and pathway databases

PathwayCommonsiQ9BV79
ReactomeiR-HSA-77346, Beta oxidation of decanoyl-CoA to octanoyl-CoA-CoA
SABIO-RKiQ9BV79
SignaLinkiQ9BV79

Miscellaneous databases

BioGRID ORCS database of CRISPR phenotype screens

More...BioGRID-ORCSi		51102, 93 hits in 1082 CRISPR screens

ChiTaRS: a database of human, mouse and fruit fly chimeric transcripts and RNA-sequencing data

More...ChiTaRSi		MECR, human
EvolutionaryTraceiQ9BV79

The Gene Wiki collection of pages on human genes and proteins

More...GeneWikii		MECR

Database of phenotypes from RNA interference screens in Drosophila and Homo sapiens

More...GenomeRNAii		51102
PharosiQ9BV79, Tbio

Protein Ontology

More...PROi		PR:Q9BV79
RNActiQ9BV79, protein

The Stanford Online Universal Resource for Clones and ESTs

More...SOURCEi		Search...

Gene expression databases

BgeeiENSG00000116353, Expressed in muscle of leg and 213 other tissues
ExpressionAtlasiQ9BV79, baseline and differential
GenevisibleiQ9BV79, HS

Family and domain databases

InterProiView protein in InterPro
IPR013149, ADH-like_C
IPR013154, ADH_N
IPR011032, GroES-like_sf
IPR036291, NAD(P)-bd_dom_sf
IPR020843, PKS_ER
PfamiView protein in Pfam
PF08240, ADH_N, 1 hit
PF00107, ADH_zinc_N, 1 hit
SMARTiView protein in SMART
SM00829, PKS_ER, 1 hit
SUPFAMiSSF50129, SSF50129, 1 hit
SSF51735, SSF51735, 1 hit

MobiDB: a database of protein disorder and mobility annotations

More...MobiDBi		Search...

<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

<p>This subsection of the 'Entry information' section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.<p><a href='/help/entry_name' target='_top'>More...</a></p>Entry nameiMECR_HUMAN
<p>This subsection of the 'Entry information' section provides one or more accession number(s). These are stable identifiers and should be used to cite UniProtKB entries. Upon integration into UniProtKB, each entry is assigned a unique accession number, which is called 'Primary (citable) accession number'.<p><a href='/help/accession_numbers' target='_top'>More...</a></p>AccessioniPrimary (citable) accession number: Q9BV79
Secondary accession number(s): B3KT72
, Q5SYU0, Q5SYU1, Q5SYU2, Q6IBU9, Q9Y373
<p>This subsection of the 'Entry information' section shows the date of integration of the entry into UniProtKB, the date of the last sequence update and the date of the last annotation modification ('Last modified'). The version number for both the entry and the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated 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.
<p>This subsection of the 'Entry information' section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny 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.

<p>This section contains any relevant information that doesn't fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>Miscellaneousi

Keywords - Technical termi

3D-structure, Reference proteome

Documents

  1. Human chromosome 1
    Human chromosome 1: entries, gene names and cross-references to MIM
  2. Human entries with genetic variants
    List of human entries with genetic variants
  3. Human variants curated from literature reports
    Index of human variants curated from literature reports
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  6. SIMILARITY comments
    Index of protein domains and families
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