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Entry version 193 (29 Sep 2021)
Sequence version 1 (01 Mar 2001)
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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.1 Publication 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

<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

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BioCyci
MetaCyc:ENSG00000131844-MONOMER

Pathway Commons web resource for biological pathway data

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PathwayCommonsi
Q9HCC0

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:6.4.1.41 Publication)
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

Human Gene Nomenclature Database

More...
HGNCi
HGNC:6937, MCCC2

Online Mendelian Inheritance in Man (OMIM)

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MIMi
609014, gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_Q9HCC0

Eukaryotic Pathogen, Vector and Host Database Resources

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VEuPathDBi
HostDB:ENSG00000131844

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

Keywords - Cellular componenti

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 variants 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.
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_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 PublicationCorresponds to variant dbSNP:rs1554134065EnsemblClinVar.1
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:rs752866557EnsemblClinVar.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:rs547662164EnsemblClinVar.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:rs277995EnsemblClinVar.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 variant

Organism-specific databases

DisGeNET

More...
DisGeNETi
64087

MalaCards human disease database

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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

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PharmGKBi
PA30681

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...
Pharosi
Q9HCC0, Tbio

Chemistry databases

Drug and drug target database

More...
DrugBanki
DB00121, Biotin

Genetic variation 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 or proteolytic cleavage.<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

The CPTAC Assay portal

More...
CPTACi
CPTAC-405
CPTAC-406

Encyclopedia of Proteome Dynamics

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EPDi
Q9HCC0

jPOST - Japan Proteome Standard Repository/Database

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jPOSTi
Q9HCC0

MassIVE - Mass Spectrometry Interactive Virtual Environment

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MassIVEi
Q9HCC0

MaxQB - The MaxQuant DataBase

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MaxQBi
Q9HCC0

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

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PaxDbi
Q9HCC0

PeptideAtlas

More...
PeptideAtlasi
Q9HCC0

PRoteomics IDEntifications database

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PRIDEi
Q9HCC0

ProteomicsDB: a multi-organism proteome resource

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ProteomicsDBi
81665 [Q9HCC0-1]
81666 [Q9HCC0-2]

2D gel databases

REPRODUCTION-2DPAGE

More...
REPRODUCTION-2DPAGEi
IPI00784044

PTM databases

GlyGen: Computational and Informatics Resources for Glycoscience

More...
GlyGeni
Q9HCC0, 1 site, 1 O-linked glycan (1 site)

iPTMnet integrated resource for PTMs in systems biology context

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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

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Bgeei
ENSG00000131844, Expressed in epithelium of mammary gland and 222 other tissues

ExpressionAtlas, Differential and Baseline Expression

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ExpressionAtlasi
Q9HCC0, baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

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Genevisiblei
Q9HCC0, HS

Organism-specific databases

Human Protein Atlas

More...
HPAi
ENSG00000131844, Tissue enhanced (heart)

<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.

<p>This subsection of the '<a href="http://www.uniprot.org/help/interaction_section">Interaction</a>' section provides information about binary protein-protein interactions. The data presented in this section are a quality-filtered subset of binary interactions automatically derived from the <a href="https://www.ebi.ac.uk/intact/">IntAct database</a>. It is updated at every <a href="http://www.uniprot.org/help/synchronization">UniProt release</a>.<p><a href='/help/binary_interactions' target='_top'>More...</a></p>Binary interactionsi

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGRID)

More...
BioGRIDi
122050, 80 interactors

ComplexPortal: manually curated resource of macromolecular complexes

More...
ComplexPortali
CPX-6236, Mitochondrial methylcrotonyl-CoA carboxylase complex

CORUM comprehensive resource of mammalian protein complexes

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CORUMi
Q9HCC0

Protein interaction database and analysis system

More...
IntActi
Q9HCC0, 40 interactors

Molecular INTeraction database

More...
MINTi
Q9HCC0

STRING: functional protein association networks

More...
STRINGi
9606.ENSP00000343657

Miscellaneous databases

RNAct, Protein-RNA interaction predictions for model organisms.

More...
RNActi
Q9HCC0, 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

3D structure databases

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

More...
SMRi
Q9HCC0

Database of comparative protein structure models

More...
ModBasei
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

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eggNOGi
KOG0540, Eukaryota

Ensembl GeneTree

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GeneTreei
ENSGT00940000155949

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...
HOGENOMi
CLU_018822_0_1_1

InParanoid: Eukaryotic Ortholog Groups

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InParanoidi
Q9HCC0

Identification of Orthologs from Complete Genome Data

More...
OMAi
AYLPIMS

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

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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

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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>. 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_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 21 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 <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
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.

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 21 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
D6RD67D6RD67_HUMAN
Methylcrotonoyl-CoA carboxylase bet...
MCCC2
115Annotation 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>
D6RDF7D6RDF7_HUMAN
Methylcrotonoyl-CoA carboxylase bet...
MCCC2
357Annotation 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>
A0A0S2Z5R4A0A0S2Z5R4_HUMAN
Methylcrotonoyl-CoA carboxylase 2 i...
MCCC2
367Annotation 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>
A0A804HJ31A0A804HJ31_HUMAN
Methylcrotonoyl-CoA carboxylase bet...
MCCC2 hCG_37849
432Annotation 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>
A0A804HHS4A0A804HHS4_HUMAN
Methylcrotonoyl-CoA carboxylase bet...
MCCC2
368Annotation 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>
A0A804HIH3A0A804HIH3_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>
A0A804HIQ3A0A804HIQ3_HUMAN
Methylcrotonoyl-CoA carboxylase bet...
MCCC2
58Annotation 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>
A0A804HJ24A0A804HJ24_HUMAN
Methylcrotonoyl-CoA carboxylase bet...
MCCC2
515Annotation 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>
There are more potential isoformsShow all

<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.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 PublicationCorresponds to variant dbSNP:rs1554134065EnsemblClinVar.1
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:rs752866557EnsemblClinVar.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:rs547662164EnsemblClinVar.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:rs277995EnsemblClinVar.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.<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

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...
Ensembli
ENST00000340941; ENSP00000343657; ENSG00000131844 [Q9HCC0-1]
ENST00000683789; ENSP00000507012; ENSG00000131844 [Q9HCC0-2]

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

3D structure databases

SMRiQ9HCC0
ModBaseiSearch...

Protein-protein interaction databases

BioGRIDi122050, 80 interactors
ComplexPortaliCPX-6236, Mitochondrial methylcrotonyl-CoA carboxylase complex
CORUMiQ9HCC0
IntActiQ9HCC0, 40 interactors
MINTiQ9HCC0
STRINGi9606.ENSP00000343657

Chemistry databases

DrugBankiDB00121, Biotin

PTM databases

GlyGeniQ9HCC0, 1 site, 1 O-linked glycan (1 site)
iPTMnetiQ9HCC0
PhosphoSitePlusiQ9HCC0

Genetic variation databases

BioMutaiMCCC2
DMDMi20138731

2D gel databases

REPRODUCTION-2DPAGEiIPI00784044

Proteomic databases

CPTACiCPTAC-405
CPTAC-406
EPDiQ9HCC0
jPOSTiQ9HCC0
MassIVEiQ9HCC0
MaxQBiQ9HCC0
PaxDbiQ9HCC0
PeptideAtlasiQ9HCC0
PRIDEiQ9HCC0
ProteomicsDBi81665 [Q9HCC0-1]
81666 [Q9HCC0-2]

Protocols and materials databases

Antibodypedia a portal for validated antibodies

More...
Antibodypediai
24162, 278 antibodies

The DNASU plasmid repository

More...
DNASUi
64087

Genome annotation databases

EnsembliENST00000340941; ENSP00000343657; ENSG00000131844 [Q9HCC0-1]
ENST00000683789; ENSP00000507012; ENSG00000131844 [Q9HCC0-2]
GeneIDi64087
KEGGihsa:64087
UCSCiuc003kbs.5, human [Q9HCC0-1]

Organism-specific databases

Comparative Toxicogenomics Database

More...
CTDi
64087
DisGeNETi64087

GeneCards: human genes, protein and diseases

More...
GeneCardsi
MCCC2
HGNCiHGNC:6937, MCCC2
HPAiENSG00000131844, Tissue enhanced (heart)
MalaCardsiMCCC2
MIMi210210, phenotype
609014, gene
neXtProtiNX_Q9HCC0
OpenTargetsiENSG00000131844
Orphaneti6, 3-methylcrotonyl-CoA carboxylase deficiency
PharmGKBiPA30681
VEuPathDBiHostDB:ENSG00000131844

GenAtlas: human gene database

More...
GenAtlasi
Search...

Phylogenomic databases

eggNOGiKOG0540, Eukaryota
GeneTreeiENSGT00940000155949
HOGENOMiCLU_018822_0_1_1
InParanoidiQ9HCC0
OMAiAYLPIMS
PhylomeDBiQ9HCC0
TreeFamiTF300446

Enzyme and pathway databases

UniPathwayiUPA00363;UER00861
BioCyciMetaCyc:ENSG00000131844-MONOMER
PathwayCommonsiQ9HCC0
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

BioGRID ORCS database of CRISPR phenotype screens

More...
BioGRID-ORCSi
64087, 6 hits in 1017 CRISPR screens

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

More...
ChiTaRSi
MCCC2, human

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

More...
GenomeRNAii
64087
PharosiQ9HCC0, Tbio

Protein Ontology

More...
PROi
PR:Q9HCC0
RNActiQ9HCC0, protein

The Stanford Online Universal Resource for Clones and ESTs

More...
SOURCEi
Search...

Gene expression databases

BgeeiENSG00000131844, Expressed in epithelium of mammary gland and 222 other tissues
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

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 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: September 29, 2021
This is version 193 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

Direct protein sequencing, Reference proteome

Documents

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