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UniProtKB - Q9BV79 (MECR_HUMAN)

Entry version 162 (17 Jun 2020)
Sequence version 2 (31 May 2011)
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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. Has a preference for short and medium chain substrates, including trans-2-hexenoyl-CoA (C6), trans-2-decenoyl-CoA (C10), and trans-2-hexadecenoyl-CoA (C16).2 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=37 µM for trans-2-hexenoyl-CoA2 Publications
  2. KM=7.1 µM for trans-2-decenoyl-CoA2 Publications
  3. KM=3.6 µM for trans-dodec-2-enoyl-CoA2 Publications
  4. KM=10.4 µM for trans-dec-2-enoyl-CoA2 Publications
  5. KM=10.2 µM for trans-oct-2-enoyl-CoA2 Publications
  6. KM=4.3 µM for trans-tetradec-2-enoyl-CoA2 Publications
  7. KM=6.6 µM for trans-hexadec-2-enoyl-CoA2 Publications
  8. KM=63.5 µM for trans-hex-2-enoyl-CoA2 Publications

    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

    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

    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 reductase
    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

    Eukaryotic Pathogen Database Resources

    More...    EuPathDBi    		HostDB:ENSG00000116353.15

    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

    <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

    Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte & Seán O’Donoghue; Source: COMPARTMENTS

    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 mutations 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 mutation, Dystonia

    Organism-specific databases

    DisGeNET

    More...    DisGeNETi    		51102

    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

    Polymorphism and mutation 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 197 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 Low tissue specificity

    <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, 18 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

    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
    COG0604 LUCA

    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

    KEGG Orthology (KO)

    More...    KOi    		K07512

    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_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. This section is only present in reviewed entries, i.e. in UniProtKB/Swiss-Prot.<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 <div> <p><b>What is the canonical sequence?</b><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:rs11544658Ensembl.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:rs34835902Ensembl.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; ENSP00000263702; ENSG00000116353 [Q9BV79-1]
    ENST00000373791; ENSP00000362896; ENSG00000116353 [Q9BV79-2]

    Database of genes from NCBI RefSeq genomes

    More...    GeneIDi    		51102

    KEGG: Kyoto Encyclopedia of Genes and Genomes

    More...    KEGGi    		hsa:51102

    UCSC genome browser

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

    Keywords - Coding sequence diversityi

    Alternative splicing, Polymorphism

    <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[»]
    SMRiQ9BV79
    ModBaseiSearch...
    PDBe-KBiSearch...

    Protein-protein interaction databases

    BioGRIDi119291, 18 interactors
    IntActiQ9BV79, 4 interactors
    STRINGi9606.ENSP00000263702

    Chemistry databases

    SwissLipidsiSLP:000001054

    PTM databases

    iPTMnetiQ9BV79
    PhosphoSitePlusiQ9BV79

    Polymorphism and mutation 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 161 antibodies

    The DNASU plasmid repository

    More...    DNASUi    		51102

    Genome annotation databases

    EnsembliENST00000263702; ENSP00000263702; ENSG00000116353 [Q9BV79-1]
    ENST00000373791; ENSP00000362896; ENSG00000116353 [Q9BV79-2]
    GeneIDi51102
    KEGGihsa:51102
    UCSCiuc001brp.3 human [Q9BV79-1]

    Organism-specific databases

    Comparative Toxicogenomics Database

    More...    CTDi    		51102
    DisGeNETi51102
    EuPathDBiHostDB:ENSG00000116353.15

    GeneCards: human genes, protein and diseases

    More...    GeneCardsi    		MECR
    HGNCiHGNC:19691 MECR
    HPAiENSG00000116353 Low tissue specificity
    MalaCardsiMECR
    MIMi608205 gene
    617282 phenotype
    neXtProtiNX_Q9BV79
    OpenTargetsiENSG00000116353
    Orphaneti508093 MEPAN syndrome
    PharmGKBiPA142671471

    GenAtlas: human gene database

    More...    GenAtlasi    		Search...

    Phylogenomic databases

    eggNOGiKOG0025 Eukaryota
    COG0604 LUCA
    GeneTreeiENSGT00940000156592
    HOGENOMiCLU_026673_17_1_1
    InParanoidiQ9BV79
    KOiK07512
    OMAiHQLCRAW
    OrthoDBi1269870at2759
    PhylomeDBiQ9BV79
    TreeFamiTF312886

    Enzyme and pathway databases

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

    Miscellaneous databases

    BioGRID ORCS database of CRISPR phenotype screens

    More...    BioGRID-ORCSi    		51102 48 hits in 788 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 197 other tissues
    ExpressionAtlasiQ9BV79 baseline and differential
    GenevisibleiQ9BV79 HS

    Family and domain databases

    InterProiView protein in InterPro
    IPR013149 ADH_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

    ProtoNet; Automatic hierarchical classification of proteins

    More...    ProtoNeti    		Search...

    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: June 17, 2020
    This is version 162 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. PDB cross-references
      Index of Protein Data Bank (PDB) cross-references
    2. SIMILARITY comments
      Index of protein domains and families
    3. Human chromosome 1
      Human chromosome 1: entries, gene names and cross-references to MIM
    4. Human entries with polymorphisms or disease mutations
      List of human entries with polymorphisms or disease mutations
    5. Human polymorphisms and disease mutations
      Index of human polymorphisms and disease mutations
    6. MIM cross-references
      Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
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