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Protein

Methylcrotonoyl-CoA carboxylase beta chain, mitochondrial

Gene

MCCC2

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

Carboxyltransferase subunit of the 3-methylcrotonyl-CoA carboxylase, an enzyme that catalyzes the conversion of 3-methylcrotonyl-CoA to 3-methylglutaconyl-CoA, a critical step for leucine and isovaleric acid catabolism.1 Publication

<p>This subsection of the <a href="http://www.uniprot.org/help/function_section">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

kcat is 4.0 sec(-1).
  1. KM=45 µM for ATP1 Publication
  2. KM=74 µM for 3-methylcrotonyl-CoA1 Publication

    <p>This subsection of the <a href="http://www.uniprot.org/help/function_section">'Function'</a> section describes the metabolic pathway(s) associated with a protein.<p><a href='/help/pathway' target='_top'>More...</a></p>Pathwayi: L-leucine degradation

    This protein is involved in step 2 of the subpathway that synthesizes (S)-3-hydroxy-3-methylglutaryl-CoA from 3-isovaleryl-CoA.
    Proteins known to be involved in the 3 steps of the subpathway in this organism are:
    1. Isovaleryl-CoA dehydrogenase, mitochondrial (IVD)
    2. Methylcrotonoyl-CoA carboxylase beta chain, mitochondrial (MCCC2), Methylcrotonoyl-CoA carboxylase subunit alpha, mitochondrial (MCCC1)
    3. Methylglutaconyl-CoA hydratase, mitochondrial (AUH)
    This subpathway is part of the pathway L-leucine degradation, which is itself part of Amino-acid degradation.
    View all proteins of this organism that are known to be involved in the subpathway that synthesizes (S)-3-hydroxy-3-methylglutaryl-CoA from 3-isovaleryl-CoA, the pathway L-leucine degradation and in Amino-acid degradation.

    <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

    GO - Biological processi

    • biotin metabolic process Source: Reactome
    • coenzyme A metabolic process Source: Ensembl
    • leucine catabolic process Source: GO_Central
    • protein heterooligomerization Source: ParkinsonsUK-UCL

    <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 functionLigase
    LigandATP-binding, Nucleotide-binding

    Enzyme and pathway databases

    BioCyc Collection of Pathway/Genome Databases

    More...
    BioCyci
    MetaCyc:ENSG00000131844-MONOMER

    Reactome - a knowledgebase of biological pathways and processes

    More...
    Reactomei
    R-HSA-196780 Biotin transport and metabolism
    R-HSA-3371599 Defective HLCS causes multiple carboxylase deficiency
    R-HSA-70895 Branched-chain amino acid catabolism

    UniPathway: a resource for the exploration and annotation of metabolic pathways

    More...
    UniPathwayi
    UPA00363;UER00861

    <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_and_taxonomy_section">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:
    Methylcrotonoyl-CoA carboxylase beta chain, mitochondrial (EC:6.4.1.4)
    Short name:
    MCCase subunit beta
    Alternative name(s):
    3-methylcrotonyl-CoA carboxylase 2
    3-methylcrotonyl-CoA carboxylase non-biotin-containing subunit
    3-methylcrotonyl-CoA:carbon dioxide ligase subunit beta
    <p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">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:MCCC2
    Synonyms:MCCB
    <p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">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_and_taxonomy_section">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_and_taxonomy_section">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 lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    <p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">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_manual">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 5

    Organism-specific databases

    Eukaryotic Pathogen Database Resources

    More...
    EuPathDBi
    HostDB:ENSG00000131844.15

    Human Gene Nomenclature Database

    More...
    HGNCi
    HGNC:6937 MCCC2

    Online Mendelian Inheritance in Man (OMIM)

    More...
    MIMi
    609014 gene

    neXtProt; the human protein knowledge platform

    More...
    neXtProti
    NX_Q9HCC0

    <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; Source: COMPARTMENTS

    Keywords - Cellular componenti

    Mitochondrion

    <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

    3-methylcrotonoyl-CoA carboxylase 2 deficiency (MCC2D)11 Publications
    The disease is caused by mutations affecting the gene represented in this entry.
    Disease descriptionAn autosomal recessive disorder of leucine catabolism. The phenotype is variable, ranging from neonatal onset with severe neurological involvement to asymptomatic adults. There is a characteristic organic aciduria with massive excretion of 3-hydroxyisovaleric acid and 3-methylcrotonylglycine, usually in combination with a severe secondary carnitine deficiency.
    See also OMIM:210210
    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_07250739S → F in MCC2D; has some wild-type residual activity. 1 PublicationCorresponds to variant dbSNP:rs398124371EnsemblClinVar.1
    Natural variantiVAR_07729168G → V in MCC2D; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs1187203558Ensembl.1
    Natural variantiVAR_01279299E → Q in MCC2D; severe and mild form. 3 PublicationsCorresponds to variant dbSNP:rs119103219EnsemblClinVar.1
    Natural variantiVAR_072508101S → F in MCC2D. 1 PublicationCorresponds to variant dbSNP:rs748028684Ensembl.1
    Natural variantiVAR_077292105G → R in MCC2D; unknown pathological significance. 1 Publication1
    Natural variantiVAR_072509118Missing in MCC2D; has some wild-type residual activity. 1 Publication1
    Natural variantiVAR_072510131C → F in MCC2D. 1 Publication1
    Natural variantiVAR_077293139T → I in MCC2D. 1 Publication1
    Natural variantiVAR_072511146Y → N in MCC2D; has some wild-type residual activity. 1 Publication1
    Natural variantiVAR_072512152K → T in MCC2D. 1 Publication1
    Natural variantiVAR_012793155R → Q in MCC2D; mild form. 2 PublicationsCorresponds to variant dbSNP:rs119103220EnsemblClinVar.1
    Natural variantiVAR_072513155R → W in MCC2D. 3 PublicationsCorresponds to variant dbSNP:rs141030969EnsemblClinVar.1
    Natural variantiVAR_077294163N → D in MCC2D; unknown pathological significance. 1 Publication1
    Natural variantiVAR_012794167C → R in MCC2D. 2 PublicationsCorresponds to variant dbSNP:rs119103222EnsemblClinVar.1
    Natural variantiVAR_072514169Y → D in MCC2D. 1 Publication1
    Natural variantiVAR_012795173S → L in MCC2D; severe form. 2 PublicationsCorresponds to variant dbSNP:rs752866557Ensembl.1
    Natural variantiVAR_072515190H → R in MCC2D. 2 PublicationsCorresponds to variant dbSNP:rs119103225EnsemblClinVar.1
    Natural variantiVAR_072516190H → Y in MCC2D; produces severely decreased wild-type residual activity. 2 PublicationsCorresponds to variant dbSNP:rs773774134EnsemblClinVar.1
    Natural variantiVAR_012796193R → C in MCC2D; mild form. 2 PublicationsCorresponds to variant dbSNP:rs547662164Ensembl.1
    Natural variantiVAR_072517193R → H in MCC2D. 1 PublicationCorresponds to variant dbSNP:rs535519604Ensembl.1
    Natural variantiVAR_072518200I → N in MCC2D; unknown pathological significance. 2 PublicationsCorresponds to variant dbSNP:rs140806722EnsemblClinVar.1
    Natural variantiVAR_077295214G → A in MCC2D. 1 PublicationCorresponds to variant dbSNP:rs277995Ensembl.1
    Natural variantiVAR_077296216C → W in MCC2D. 1 Publication1
    Natural variantiVAR_012797218A → T in MCC2D. 3 PublicationsCorresponds to variant dbSNP:rs886043524EnsemblClinVar.1
    Natural variantiVAR_072519218A → V in MCC2D. 3 PublicationsCorresponds to variant dbSNP:rs760420191EnsemblClinVar.1
    Natural variantiVAR_072520220G → E in MCC2D. 1 PublicationCorresponds to variant dbSNP:rs1254750166Ensembl.1
    Natural variantiVAR_072521224P → L in MCC2D. 1 PublicationCorresponds to variant dbSNP:rs1195601465Ensembl.1
    Natural variantiVAR_077297230N → D in MCC2D. 1 PublicationCorresponds to variant dbSNP:rs766753795EnsemblClinVar.1
    Natural variantiVAR_072522237G → D in MCC2D. 1 Publication1
    Natural variantiVAR_072523266H → L in MCC2D. 1 Publication1
    Natural variantiVAR_012798268R → T in MCC2D; asymptomatic form. 2 PublicationsCorresponds to variant dbSNP:rs119103223EnsemblClinVar.1
    Natural variantiVAR_072524268Missing in MCC2D. 1 Publication1
    Natural variantiVAR_067199280D → Y in MCC2D. 3 PublicationsCorresponds to variant dbSNP:rs119103226EnsemblClinVar.1
    Natural variantiVAR_072525282H → R in MCC2D; has some wild-type residual activity. 2 Publications1
    Natural variantiVAR_012799310P → R in MCC2D; mild form. 3 PublicationsCorresponds to variant dbSNP:rs119103221EnsemblClinVar.1
    Natural variantiVAR_077298318Y → C in MCC2D. 1 PublicationCorresponds to variant dbSNP:rs773115035Ensembl.1
    Natural variantiVAR_077299319G → R in MCC2D. 1 PublicationCorresponds to variant dbSNP:rs1443551700Ensembl.1
    Natural variantiVAR_012800339V → M in MCC2D; severe form. 4 PublicationsCorresponds to variant dbSNP:rs150591260EnsemblClinVar.1
    Natural variantiVAR_072526340D → V in MCC2D. 1 PublicationCorresponds to variant dbSNP:rs398124370EnsemblClinVar.1
    Natural variantiVAR_072527352G → R in MCC2D; produces severely decreased wild-type residual activity. 1 PublicationCorresponds to variant dbSNP:rs765438239Ensembl.1
    Natural variantiVAR_072528355L → F in MCC2D. 2 PublicationsCorresponds to variant dbSNP:rs757052602EnsemblClinVar.1
    Natural variantiVAR_072529375V → F in MCC2D. 2 Publications1
    Natural variantiVAR_077300387F → V in MCC2D; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs1450515408Ensembl.1
    Natural variantiVAR_077301393Q → P in MCC2D. 1 PublicationCorresponds to variant dbSNP:rs750782118Ensembl.1
    Natural variantiVAR_072530403N → T in MCC2D. 1 PublicationCorresponds to variant dbSNP:rs142887940Ensembl.1
    Natural variantiVAR_077302410G → D in MCC2D. 1 PublicationCorresponds to variant dbSNP:rs771440617Ensembl.1
    Natural variantiVAR_077303410G → R in MCC2D. 1 Publication1
    Natural variantiVAR_072531434V → L in MCC2D; has some wild-type residual activity. 1 PublicationCorresponds to variant dbSNP:rs758506791Ensembl.1
    Natural variantiVAR_012801437I → V in MCC2D; mild form. Corresponds to variant dbSNP:rs119103224EnsemblClinVar.1
    Natural variantiVAR_077304441I → T in MCC2D; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs139852818EnsemblClinVar.1
    Natural variantiVAR_072532456A → V in MCC2D; shows virtually no enzyme activity. 2 PublicationsCorresponds to variant dbSNP:rs727504011EnsemblClinVar.1
    Natural variantiVAR_067200459P → S in MCC2D. 1 PublicationCorresponds to variant dbSNP:rs754741111Ensembl.1
    Natural variantiVAR_077305461F → V in MCC2D. 1 Publication1
    Natural variantiVAR_072533475G → R in MCC2D; has some wild-type residual activity. 2 PublicationsCorresponds to variant dbSNP:rs148773718EnsemblClinVar.1
    Natural variantiVAR_072534477Q → R in MCC2D. 2 PublicationsCorresponds to variant dbSNP:rs769558016Ensembl.1
    Natural variantiVAR_072535517G → R in MCC2D. 2 PublicationsCorresponds to variant dbSNP:rs979584886Ensembl.1
    Natural variantiVAR_072536520Y → S in MCC2D. 2 PublicationsCorresponds to variant dbSNP:rs150327768EnsemblClinVar.1
    Natural variantiVAR_072537523S → G in MCC2D; has some wild-type residual activity. 2 PublicationsCorresponds to variant dbSNP:rs1459143051Ensembl.1
    Natural variantiVAR_077306524A → T in MCC2D. 1 PublicationCorresponds to variant dbSNP:rs774241918Ensembl.1
    Natural variantiVAR_072538555K → E in MCC2D. 1 PublicationCorresponds to variant dbSNP:rs1257849672Ensembl.1

    Keywords - Diseasei

    Disease mutation

    Organism-specific databases

    DisGeNET

    More...
    DisGeNETi
    64087

    MalaCards human disease database

    More...
    MalaCardsi
    MCCC2
    MIMi210210 phenotype

    Open Targets

    More...
    OpenTargetsi
    ENSG00000131844

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

    More...
    Orphaneti
    6 3-methylcrotonyl-CoA carboxylase deficiency

    The Pharmacogenetics and Pharmacogenomics Knowledge Base

    More...
    PharmGKBi
    PA30681

    Chemistry databases

    Drug and drug target database

    More...
    DrugBanki
    DB00121 Biotin

    Polymorphism and mutation databases

    BioMuta curated single-nucleotide variation and disease association database

    More...
    BioMutai
    MCCC2

    Domain mapping of disease mutations (DMDM)

    More...
    DMDMi
    20138731

    <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 – 22Mitochondrion1 PublicationAdd BLAST22
    <p>This subsection of the ‘PTM / Processing’ section describes the extent of a polypeptide chain in the mature protein following processing.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_000000029123 – 563Methylcrotonoyl-CoA carboxylase beta chain, mitochondrialAdd BLAST541

    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 residuei70N6-acetyllysine; alternateBy similarity1
    Modified residuei70N6-succinyllysine; alternateBy similarity1
    Modified residuei141N6-succinyllysineBy similarity1
    Modified residuei495N6-acetyllysine; alternateBy similarity1
    Modified residuei495N6-succinyllysine; alternateBy similarity1
    Modified residuei511N6-acetyllysineBy similarity1

    Keywords - PTMi

    Acetylation

    Proteomic databases

    Encyclopedia of Proteome Dynamics

    More...
    EPDi
    Q9HCC0

    jPOST - Japan Proteome Standard Repository/Database

    More...
    jPOSTi
    Q9HCC0

    MaxQB - The MaxQuant DataBase

    More...
    MaxQBi
    Q9HCC0

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

    More...
    PaxDbi
    Q9HCC0

    PeptideAtlas

    More...
    PeptideAtlasi
    Q9HCC0

    PRoteomics IDEntifications database

    More...
    PRIDEi
    Q9HCC0

    ProteomicsDB human proteome resource

    More...
    ProteomicsDBi
    81665
    81666 [Q9HCC0-2]

    2D gel databases

    REPRODUCTION-2DPAGE

    More...
    REPRODUCTION-2DPAGEi
    IPI00784044

    PTM databases

    iPTMnet integrated resource for PTMs in systems biology context

    More...
    iPTMneti
    Q9HCC0

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

    More...
    PhosphoSitePlusi
    Q9HCC0

    <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

    Gene expression databases

    Bgee dataBase for Gene Expression Evolution

    More...
    Bgeei
    ENSG00000131844 Expressed in 207 organ(s), highest expression level in epithelium of mammary gland

    CleanEx database of gene expression profiles

    More...
    CleanExi
    HS_MCCC2

    ExpressionAtlas, Differential and Baseline Expression

    More...
    ExpressionAtlasi
    Q9HCC0 baseline and differential

    Genevisible search portal to normalized and curated expression data from Genevestigator

    More...
    Genevisiblei
    Q9HCC0 HS

    Organism-specific databases

    Human Protein Atlas

    More...
    HPAi
    HPA038300
    HPA038301
    HPA061546

    <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_section">'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_section">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>Subunit structurei

    Probably a dodecamer composed of six biotin-containing alpha subunits (MCCC1) and six beta (MCCC2) subunits.

    Protein-protein interaction databases

    The Biological General Repository for Interaction Datasets (BioGrid)

    More...
    BioGridi
    122050, 39 interactors

    CORUM comprehensive resource of mammalian protein complexes

    More...
    CORUMi
    Q9HCC0

    Protein interaction database and analysis system

    More...
    IntActi
    Q9HCC0, 25 interactors

    Molecular INTeraction database

    More...
    MINTi
    Q9HCC0

    STRING: functional protein association networks

    More...
    STRINGi
    9606.ENSP00000343657

    <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

    3D structure databases

    Protein Model Portal of the PSI-Nature Structural Biology Knowledgebase

    More...
    ProteinModelPortali
    Q9HCC0

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

    More...
    SMRi
    Q9HCC0

    Database of comparative protein structure models

    More...
    ModBasei
    Search...

    MobiDB: a database of protein disorder and mobility annotations

    More...
    MobiDBi
    Search...

    <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

    Domains and Repeats

    Feature keyPosition(s)DescriptionActionsGraphical viewLength
    <p>This subsection of the <a href="http://www.uniprot.org/help/family_and_domains_section">Family and Domains</a> section describes the position and type of a domain, which is defined as a specific combination of secondary structures organized into a characteristic three-dimensional structure or fold.<p><a href='/help/domain' target='_top'>More...</a></p>Domaini49 – 306CoA carboxyltransferase N-terminalPROSITE-ProRule annotationAdd BLAST258
    Domaini309 – 555CoA carboxyltransferase C-terminalPROSITE-ProRule annotationAdd BLAST247

    Region

    Feature keyPosition(s)DescriptionActionsGraphical viewLength
    <p>This subsection of the ‘Family and Domains’ section describes a region of interest that cannot be described in other subsections.<p><a href='/help/region' target='_top'>More...</a></p>Regioni49 – 555CarboxyltransferasePROSITE-ProRule annotationAdd BLAST507
    Regioni343 – 372Acyl-CoA bindingSequence analysisAdd BLAST30

    <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 AccD/PCCB family.Curated

    Keywords - Domaini

    Transit peptide

    Phylogenomic databases

    evolutionary genealogy of genes: Non-supervised Orthologous Groups

    More...
    eggNOGi
    KOG0540 Eukaryota
    COG4799 LUCA

    Ensembl GeneTree

    More...
    GeneTreei
    ENSGT00940000155949

    The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

    More...
    HOGENOMi
    HOG000218692

    The HOVERGEN Database of Homologous Vertebrate Genes

    More...
    HOVERGENi
    HBG052424

    InParanoid: Eukaryotic Ortholog Groups

    More...
    InParanoidi
    Q9HCC0

    KEGG Orthology (KO)

    More...
    KOi
    K01969

    Identification of Orthologs from Complete Genome Data

    More...
    OMAi
    AYLPIMS

    Database of Orthologous Groups

    More...
    OrthoDBi
    632665at2759

    Database for complete collections of gene phylogenies

    More...
    PhylomeDBi
    Q9HCC0

    TreeFam database of animal gene trees

    More...
    TreeFami
    TF300446

    Family and domain databases

    Integrated resource of protein families, domains and functional sites

    More...
    InterProi
    View protein in InterPro
    IPR034733 AcCoA_carboxyl
    IPR029045 ClpP/crotonase-like_dom_sf
    IPR011763 COA_CT_C
    IPR011762 COA_CT_N

    Pfam protein domain database

    More...
    Pfami
    View protein in Pfam
    PF01039 Carboxyl_trans, 1 hit

    Superfamily database of structural and functional annotation

    More...
    SUPFAMi
    SSF52096 SSF52096, 2 hits

    PROSITE; a protein domain and family database

    More...
    PROSITEi
    View protein in PROSITE
    PS50989 COA_CT_CTER, 1 hit
    PS50980 COA_CT_NTER, 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_length">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>.<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_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">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_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">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 4 potential isoforms that are computationally mapped.Show allAlign All

    Isoform 1 (identifier: Q9HCC0-1) [UniParc]FASTAAdd to basket

    This isoform has been chosen as the 'canonical' 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
    MWAVLRLALR PCARASPAGP RAYHGDSVAS LGTQPDLGSA LYQENYKQMK
    60 70 80 90 100
    ALVNQLHERV EHIKLGGGEK ARALHISRGK LLPRERIDNL IDPGSPFLEL
    110 120 130 140 150
    SQFAGYQLYD NEEVPGGGII TGIGRVSGVE CMIIANDATV KGGAYYPVTV
    160 170 180 190 200
    KKQLRAQEIA MQNRLPCIYL VDSGGAYLPR QADVFPDRDH FGRTFYNQAI
    210 220 230 240 250
    MSSKNIAQIA VVMGSCTAGG AYVPAMADEN IIVRKQGTIF LAGPPLVKAA
    260 270 280 290 300
    TGEEVSAEDL GGADLHCRKS GVSDHWALDD HHALHLTRKV VRNLNYQKKL
    310 320 330 340 350
    DVTIEPSEEP LFPADELYGI VGANLKRSFD VREVIARIVD GSRFTEFKAF
    360 370 380 390 400
    YGDTLVTGFA RIFGYPVGIV GNNGVLFSES AKKGTHFVQL CCQRNIPLLF
    410 420 430 440 450
    LQNITGFMVG REYEAEGIAK DGAKMVAAVA CAQVPKITLI IGGSYGAGNY
    460 470 480 490 500
    GMCGRAYSPR FLYIWPNARI SVMGGEQAAN VLATITKDQR AREGKQFSSA
    510 520 530 540 550
    DEAALKEPII KKFEEEGNPY YSSARVWDDG IIDPADTRLV LGLSFSAALN
    560
    APIEKTDFGI FRM
    Length:563
    Mass (Da):61,333
    Last modified:March 1, 2001 - v1
    <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:i8E3D401AF52DC7D2
    GO
    Isoform 2 (identifier: Q9HCC0-2) [UniParc]FASTAAdd to basket

    The sequence of this isoform differs from the canonical sequence as follows:
         209-246: Missing.

    Note: No experimental confirmation available.
    Show »
    Length:525
    Mass (Da):57,519
    Checksum:i344050ABB7A9DE8A
    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 are 4 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
    EntryEntry nameProtein names
    Gene namesLengthAnnotation
    D6RDF7D6RDF7_HUMAN
    Methylcrotonoyl-CoA carboxylase bet...
    MCCC2
    363Annotation 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>
    D6RD67D6RD67_HUMAN
    Methylcrotonoyl-CoA carboxylase bet...
    MCCC2
    286Annotation 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>
    D6R9R1D6R9R1_HUMAN
    Methylcrotonoyl-CoA carboxylase 2 i...
    MCCC2 hCG_37849
    329Annotation 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>
    A0A0G2JM88A0A0G2JM88_HUMAN
    Methylcrotonoyl-CoA carboxylase bet...
    MCCC2
    208Annotation 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 AAH14897 differs from that shown. Reason: Frameshift at position 359.Curated

    Natural variant

    Feature keyPosition(s)DescriptionActionsGraphical viewLength
    Natural variantiVAR_07250739S → F in MCC2D; has some wild-type residual activity. 1 PublicationCorresponds to variant dbSNP:rs398124371EnsemblClinVar.1
    Natural variantiVAR_07729168G → V in MCC2D; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs1187203558Ensembl.1
    Natural variantiVAR_01279299E → Q in MCC2D; severe and mild form. 3 PublicationsCorresponds to variant dbSNP:rs119103219EnsemblClinVar.1
    Natural variantiVAR_072508101S → F in MCC2D. 1 PublicationCorresponds to variant dbSNP:rs748028684Ensembl.1
    Natural variantiVAR_077292105G → R in MCC2D; unknown pathological significance. 1 Publication1
    Natural variantiVAR_072509118Missing in MCC2D; has some wild-type residual activity. 1 Publication1
    Natural variantiVAR_072510131C → F in MCC2D. 1 Publication1
    Natural variantiVAR_077293139T → I in MCC2D. 1 Publication1
    Natural variantiVAR_072511146Y → N in MCC2D; has some wild-type residual activity. 1 Publication1
    Natural variantiVAR_072512152K → T in MCC2D. 1 Publication1
    Natural variantiVAR_012793155R → Q in MCC2D; mild form. 2 PublicationsCorresponds to variant dbSNP:rs119103220EnsemblClinVar.1
    Natural variantiVAR_072513155R → W in MCC2D. 3 PublicationsCorresponds to variant dbSNP:rs141030969EnsemblClinVar.1
    Natural variantiVAR_077294163N → D in MCC2D; unknown pathological significance. 1 Publication1
    Natural variantiVAR_012794167C → R in MCC2D. 2 PublicationsCorresponds to variant dbSNP:rs119103222EnsemblClinVar.1
    Natural variantiVAR_072514169Y → D in MCC2D. 1 Publication1
    Natural variantiVAR_012795173S → L in MCC2D; severe form. 2 PublicationsCorresponds to variant dbSNP:rs752866557Ensembl.1
    Natural variantiVAR_072515190H → R in MCC2D. 2 PublicationsCorresponds to variant dbSNP:rs119103225EnsemblClinVar.1
    Natural variantiVAR_072516190H → Y in MCC2D; produces severely decreased wild-type residual activity. 2 PublicationsCorresponds to variant dbSNP:rs773774134EnsemblClinVar.1
    Natural variantiVAR_012796193R → C in MCC2D; mild form. 2 PublicationsCorresponds to variant dbSNP:rs547662164Ensembl.1
    Natural variantiVAR_072517193R → H in MCC2D. 1 PublicationCorresponds to variant dbSNP:rs535519604Ensembl.1
    Natural variantiVAR_072518200I → N in MCC2D; unknown pathological significance. 2 PublicationsCorresponds to variant dbSNP:rs140806722EnsemblClinVar.1
    Natural variantiVAR_077295214G → A in MCC2D. 1 PublicationCorresponds to variant dbSNP:rs277995Ensembl.1
    Natural variantiVAR_077296216C → W in MCC2D. 1 Publication1
    Natural variantiVAR_012797218A → T in MCC2D. 3 PublicationsCorresponds to variant dbSNP:rs886043524EnsemblClinVar.1
    Natural variantiVAR_072519218A → V in MCC2D. 3 PublicationsCorresponds to variant dbSNP:rs760420191EnsemblClinVar.1
    Natural variantiVAR_072520220G → E in MCC2D. 1 PublicationCorresponds to variant dbSNP:rs1254750166Ensembl.1
    Natural variantiVAR_072521224P → L in MCC2D. 1 PublicationCorresponds to variant dbSNP:rs1195601465Ensembl.1
    Natural variantiVAR_077297230N → D in MCC2D. 1 PublicationCorresponds to variant dbSNP:rs766753795EnsemblClinVar.1
    Natural variantiVAR_072522237G → D in MCC2D. 1 Publication1
    Natural variantiVAR_072523266H → L in MCC2D. 1 Publication1
    Natural variantiVAR_012798268R → T in MCC2D; asymptomatic form. 2 PublicationsCorresponds to variant dbSNP:rs119103223EnsemblClinVar.1
    Natural variantiVAR_072524268Missing in MCC2D. 1 Publication1
    Natural variantiVAR_067199280D → Y in MCC2D. 3 PublicationsCorresponds to variant dbSNP:rs119103226EnsemblClinVar.1
    Natural variantiVAR_072525282H → R in MCC2D; has some wild-type residual activity. 2 Publications1
    Natural variantiVAR_012799310P → R in MCC2D; mild form. 3 PublicationsCorresponds to variant dbSNP:rs119103221EnsemblClinVar.1
    Natural variantiVAR_077298318Y → C in MCC2D. 1 PublicationCorresponds to variant dbSNP:rs773115035Ensembl.1
    Natural variantiVAR_077299319G → R in MCC2D. 1 PublicationCorresponds to variant dbSNP:rs1443551700Ensembl.1
    Natural variantiVAR_012800339V → M in MCC2D; severe form. 4 PublicationsCorresponds to variant dbSNP:rs150591260EnsemblClinVar.1
    Natural variantiVAR_072526340D → V in MCC2D. 1 PublicationCorresponds to variant dbSNP:rs398124370EnsemblClinVar.1
    Natural variantiVAR_072527352G → R in MCC2D; produces severely decreased wild-type residual activity. 1 PublicationCorresponds to variant dbSNP:rs765438239Ensembl.1
    Natural variantiVAR_072528355L → F in MCC2D. 2 PublicationsCorresponds to variant dbSNP:rs757052602EnsemblClinVar.1
    Natural variantiVAR_072529375V → F in MCC2D. 2 Publications1
    Natural variantiVAR_077300387F → V in MCC2D; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs1450515408Ensembl.1
    Natural variantiVAR_077301393Q → P in MCC2D. 1 PublicationCorresponds to variant dbSNP:rs750782118Ensembl.1
    Natural variantiVAR_072530403N → T in MCC2D. 1 PublicationCorresponds to variant dbSNP:rs142887940Ensembl.1
    Natural variantiVAR_077302410G → D in MCC2D. 1 PublicationCorresponds to variant dbSNP:rs771440617Ensembl.1
    Natural variantiVAR_077303410G → R in MCC2D. 1 Publication1
    Natural variantiVAR_072531434V → L in MCC2D; has some wild-type residual activity. 1 PublicationCorresponds to variant dbSNP:rs758506791Ensembl.1
    Natural variantiVAR_012801437I → V in MCC2D; mild form. Corresponds to variant dbSNP:rs119103224EnsemblClinVar.1
    Natural variantiVAR_077304441I → T in MCC2D; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs139852818EnsemblClinVar.1
    Natural variantiVAR_072532456A → V in MCC2D; shows virtually no enzyme activity. 2 PublicationsCorresponds to variant dbSNP:rs727504011EnsemblClinVar.1
    Natural variantiVAR_067200459P → S in MCC2D. 1 PublicationCorresponds to variant dbSNP:rs754741111Ensembl.1
    Natural variantiVAR_077305461F → V in MCC2D. 1 Publication1
    Natural variantiVAR_072533475G → R in MCC2D; has some wild-type residual activity. 2 PublicationsCorresponds to variant dbSNP:rs148773718EnsemblClinVar.1
    Natural variantiVAR_072534477Q → R in MCC2D. 2 PublicationsCorresponds to variant dbSNP:rs769558016Ensembl.1
    Natural variantiVAR_038630478A → G. Corresponds to variant dbSNP:rs35068278EnsemblClinVar.1
    Natural variantiVAR_072535517G → R in MCC2D. 2 PublicationsCorresponds to variant dbSNP:rs979584886Ensembl.1
    Natural variantiVAR_072536520Y → S in MCC2D. 2 PublicationsCorresponds to variant dbSNP:rs150327768EnsemblClinVar.1
    Natural variantiVAR_072537523S → G in MCC2D; has some wild-type residual activity. 2 PublicationsCorresponds to variant dbSNP:rs1459143051Ensembl.1
    Natural variantiVAR_077306524A → T in MCC2D. 1 PublicationCorresponds to variant dbSNP:rs774241918Ensembl.1
    Natural variantiVAR_072538555K → E in MCC2D. 1 PublicationCorresponds to variant dbSNP:rs1257849672Ensembl.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. The information stored in this subsection is used to automatically construct alternative protein sequence(s) for display.<p><a href='/help/var_seq' target='_top'>More...</a></p>Alternative sequenceiVSP_000069209 – 246Missing in isoform 2. 1 PublicationAdd BLAST38

    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
    AB050049 mRNA Translation: BAB16880.1
    AB050050 Genomic DNA Translation: BAB41121.1
    AF310971 mRNA Translation: AAG53094.1
    AF301000 mRNA Translation: AAK16404.1
    AF261884 mRNA Translation: AAK49409.1
    AC138832 Genomic DNA No translation available.
    CH471084 Genomic DNA Translation: EAW95693.1
    BC014897 mRNA Translation: AAH14897.1 Frameshift.
    BC065027 mRNA Translation: AAH65027.1
    AL079298 mRNA Translation: CAB45194.1

    The Consensus CDS (CCDS) project

    More...
    CCDSi
    CCDS34184.1 [Q9HCC0-1]

    NCBI Reference Sequences

    More...
    RefSeqi
    NP_071415.1, NM_022132.4 [Q9HCC0-1]
    XP_005248624.1, XM_005248567.1

    UniGene gene-oriented nucleotide sequence clusters

    More...
    UniGenei
    Hs.604789

    Genome annotation databases

    Ensembl eukaryotic genome annotation project

    More...
    Ensembli
    ENST00000340941; ENSP00000343657; ENSG00000131844 [Q9HCC0-1]

    Database of genes from NCBI RefSeq genomes

    More...
    GeneIDi
    64087

    KEGG: Kyoto Encyclopedia of Genes and Genomes

    More...
    KEGGi
    hsa:64087

    UCSC genome browser

    More...
    UCSCi
    uc003kbs.5 human [Q9HCC0-1]

    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
    AB050049 mRNA Translation: BAB16880.1
    AB050050 Genomic DNA Translation: BAB41121.1
    AF310971 mRNA Translation: AAG53094.1
    AF301000 mRNA Translation: AAK16404.1
    AF261884 mRNA Translation: AAK49409.1
    AC138832 Genomic DNA No translation available.
    CH471084 Genomic DNA Translation: EAW95693.1
    BC014897 mRNA Translation: AAH14897.1 Frameshift.
    BC065027 mRNA Translation: AAH65027.1
    AL079298 mRNA Translation: CAB45194.1
    CCDSiCCDS34184.1 [Q9HCC0-1]
    RefSeqiNP_071415.1, NM_022132.4 [Q9HCC0-1]
    XP_005248624.1, XM_005248567.1
    UniGeneiHs.604789

    3D structure databases

    ProteinModelPortaliQ9HCC0
    SMRiQ9HCC0
    ModBaseiSearch...
    MobiDBiSearch...

    Protein-protein interaction databases

    BioGridi122050, 39 interactors
    CORUMiQ9HCC0
    IntActiQ9HCC0, 25 interactors
    MINTiQ9HCC0
    STRINGi9606.ENSP00000343657

    Chemistry databases

    DrugBankiDB00121 Biotin

    PTM databases

    iPTMnetiQ9HCC0
    PhosphoSitePlusiQ9HCC0

    Polymorphism and mutation databases

    BioMutaiMCCC2
    DMDMi20138731

    2D gel databases

    REPRODUCTION-2DPAGEiIPI00784044

    Proteomic databases

    EPDiQ9HCC0
    jPOSTiQ9HCC0
    MaxQBiQ9HCC0
    PaxDbiQ9HCC0
    PeptideAtlasiQ9HCC0
    PRIDEiQ9HCC0
    ProteomicsDBi81665
    81666 [Q9HCC0-2]

    Protocols and materials databases

    Structural Biology KnowledgebaseSearch...

    Genome annotation databases

    EnsembliENST00000340941; ENSP00000343657; ENSG00000131844 [Q9HCC0-1]
    GeneIDi64087
    KEGGihsa:64087
    UCSCiuc003kbs.5 human [Q9HCC0-1]

    Organism-specific databases

    Comparative Toxicogenomics Database

    More...
    CTDi
    64087
    DisGeNETi64087
    EuPathDBiHostDB:ENSG00000131844.15

    GeneCards: human genes, protein and diseases

    More...
    GeneCardsi
    MCCC2
    HGNCiHGNC:6937 MCCC2
    HPAiHPA038300
    HPA038301
    HPA061546
    MalaCardsiMCCC2
    MIMi210210 phenotype
    609014 gene
    neXtProtiNX_Q9HCC0
    OpenTargetsiENSG00000131844
    Orphaneti6 3-methylcrotonyl-CoA carboxylase deficiency
    PharmGKBiPA30681

    GenAtlas: human gene database

    More...
    GenAtlasi
    Search...

    Phylogenomic databases

    eggNOGiKOG0540 Eukaryota
    COG4799 LUCA
    GeneTreeiENSGT00940000155949
    HOGENOMiHOG000218692
    HOVERGENiHBG052424
    InParanoidiQ9HCC0
    KOiK01969
    OMAiAYLPIMS
    OrthoDBi632665at2759
    PhylomeDBiQ9HCC0
    TreeFamiTF300446

    Enzyme and pathway databases

    UniPathwayi
    UPA00363;UER00861

    BioCyciMetaCyc:ENSG00000131844-MONOMER
    ReactomeiR-HSA-196780 Biotin transport and metabolism
    R-HSA-3371599 Defective HLCS causes multiple carboxylase deficiency
    R-HSA-70895 Branched-chain amino acid catabolism

    Miscellaneous databases

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

    More...
    GenomeRNAii
    64087

    Protein Ontology

    More...
    PROi
    PR:Q9HCC0

    The Stanford Online Universal Resource for Clones and ESTs

    More...
    SOURCEi
    Search...

    Gene expression databases

    BgeeiENSG00000131844 Expressed in 207 organ(s), highest expression level in epithelium of mammary gland
    CleanExiHS_MCCC2
    ExpressionAtlasiQ9HCC0 baseline and differential
    GenevisibleiQ9HCC0 HS

    Family and domain databases

    InterProiView protein in InterPro
    IPR034733 AcCoA_carboxyl
    IPR029045 ClpP/crotonase-like_dom_sf
    IPR011763 COA_CT_C
    IPR011762 COA_CT_N
    PfamiView protein in Pfam
    PF01039 Carboxyl_trans, 1 hit
    SUPFAMiSSF52096 SSF52096, 2 hits
    PROSITEiView protein in PROSITE
    PS50989 COA_CT_CTER, 1 hit
    PS50980 COA_CT_NTER, 1 hit

    ProtoNet; Automatic hierarchical classification of proteins

    More...
    ProtoNeti
    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 nameiMCCB_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: Q9HCC0
    Secondary accession number(s): A6NIY9, Q96C27, Q9Y4L7
    <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_and_isoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: March 5, 2002
    Last sequence update: March 1, 2001
    Last modified: January 16, 2019
    This is version 176 of the entry and version 1 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

    Complete proteome, Direct protein sequencing, Reference proteome

    Documents

    1. SIMILARITY comments
      Index of protein domains and families
    2. Human entries with polymorphisms or disease mutations
      List of human entries with polymorphisms or disease mutations
    3. Human polymorphisms and disease mutations
      Index of human polymorphisms and disease mutations
    4. MIM cross-references
      Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
    5. PATHWAY comments
      Index of metabolic and biosynthesis pathways
    6. Human chromosome 5
      Human chromosome 5: entries, gene names and cross-references to MIM
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