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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-Experimental evidence at protein leveli

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

Catalytic activityi

ATP + 3-methylcrotonoyl-CoA + HCO3- = ADP + phosphate + 3-methylglutaconyl-CoA.1 Publication

Kineticsi

kcat is 4.0 sec(-1).

  1. KM=45 µM for ATP1 Publication
  2. KM=74 µM for 3-methylcrotonyl-CoA1 Publication

    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 subunit alpha, mitochondrial (MCCC1), Methylcrotonoyl-CoA carboxylase beta chain, mitochondrial (MCCC2)
    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.

    GO - Molecular functioni

    • ATP binding Source: UniProtKB-KW
    • methylcrotonoyl-CoA carboxylase activity Source: CACAO

    GO - Biological processi

    • biotin metabolic process Source: Reactome
    • branched-chain amino acid catabolic process Source: Reactome
    • coenzyme A metabolic process Source: Ensembl
    • leucine catabolic process Source: UniProtKB
    • protein heterooligomerization Source: ParkinsonsUK-UCL
    Complete GO annotation...

    Keywords - Molecular functioni

    Ligase

    Keywords - Ligandi

    ATP-binding, Nucleotide-binding

    Enzyme and pathway databases

    BioCyciMetaCyc:ENSG00000131844-MONOMER.
    ZFISH: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.
    UniPathwayiUPA00363; UER00861.

    Names & Taxonomyi

    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
    Gene namesi
    Name:MCCC2
    Synonyms:MCCB
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    Proteomesi
    • UP000005640 Componenti: Chromosome 5

    Organism-specific databases

    HGNCiHGNC:6937. MCCC2.

    Subcellular locationi

    GO - Cellular componenti

    • 3-methylcrotonyl-CoA carboxylase complex, mitochondrial Source: ParkinsonsUK-UCL
    • cytosol Source: Reactome
    • methylcrotonoyl-CoA carboxylase complex Source: ParkinsonsUK-UCL
    • mitochondrial matrix Source: ParkinsonsUK-UCL
    • mitochondrion Source: UniProtKB
    Complete GO annotation...

    Keywords - Cellular componenti

    Mitochondrion

    Pathology & Biotechi

    Involvement in diseasei

    3-methylcrotonoyl-CoA carboxylase 2 deficiency (MCC2D)9 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
    Natural variantiVAR_07250739S → F in MCC2D; has some wild-type residual activity. 1 PublicationCorresponds to variant rs398124371dbSNPEnsembl.1
    Natural variantiVAR_01279299E → Q in MCC2D; severe and mild form. 3 PublicationsCorresponds to variant rs28934883dbSNPEnsembl.1
    Natural variantiVAR_072508101S → F in MCC2D. 1 PublicationCorresponds to variant rs748028684dbSNPEnsembl.1
    Natural variantiVAR_072509118Missing in MCC2D; has some wild-type residual activity. 1 Publication1
    Natural variantiVAR_072510131C → F 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 rs119103220dbSNPEnsembl.1
    Natural variantiVAR_072513155R → W in MCC2D. 2 PublicationsCorresponds to variant rs141030969dbSNPEnsembl.1
    Natural variantiVAR_012794167C → R in MCC2D. 2 PublicationsCorresponds to variant rs28934884dbSNPEnsembl.1
    Natural variantiVAR_072514169Y → D in MCC2D. 1 Publication1
    Natural variantiVAR_012795173S → L in MCC2D; severe form. 2 PublicationsCorresponds to variant rs752866557dbSNPEnsembl.1
    Natural variantiVAR_072515190H → R in MCC2D. 2 PublicationsCorresponds to variant rs119103225dbSNPEnsembl.1
    Natural variantiVAR_072516190H → Y in MCC2D; produces severely decreased wild-type residual activity. 2 PublicationsCorresponds to variant rs773774134dbSNPEnsembl.1
    Natural variantiVAR_012796193R → C in MCC2D; mild form. 2 PublicationsCorresponds to variant rs547662164dbSNPEnsembl.1
    Natural variantiVAR_072517193R → H in MCC2D. 1 PublicationCorresponds to variant rs535519604dbSNPEnsembl.1
    Natural variantiVAR_072518200I → N in MCC2D. 1 PublicationCorresponds to variant rs140806722dbSNPEnsembl.1
    Natural variantiVAR_012797218A → T in MCC2D. 2 Publications1
    Natural variantiVAR_072519218A → V in MCC2D. 3 PublicationsCorresponds to variant rs760420191dbSNPEnsembl.1
    Natural variantiVAR_072520220G → E in MCC2D. 1 Publication1
    Natural variantiVAR_072521224P → L in MCC2D. 1 Publication1
    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 rs119103223dbSNPEnsembl.1
    Natural variantiVAR_072524268Missing in MCC2D. 1 Publication1
    Natural variantiVAR_067199280D → Y in MCC2D. 3 PublicationsCorresponds to variant rs119103226dbSNPEnsembl.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 rs119103221dbSNPEnsembl.1
    Natural variantiVAR_012800339V → M in MCC2D; severe form. 3 PublicationsCorresponds to variant rs150591260dbSNPEnsembl.1
    Natural variantiVAR_072526340D → V in MCC2D. 1 PublicationCorresponds to variant rs398124370dbSNPEnsembl.1
    Natural variantiVAR_072527352G → R in MCC2D; produces severely decreased wild-type residual activity. 1 PublicationCorresponds to variant rs765438239dbSNPEnsembl.1
    Natural variantiVAR_072528355L → F in MCC2D. 2 PublicationsCorresponds to variant rs757052602dbSNPEnsembl.1
    Natural variantiVAR_072529375V → F in MCC2D. 2 Publications1
    Natural variantiVAR_072530403N → T in MCC2D. 1 Publication1
    Natural variantiVAR_072531434V → L in MCC2D; has some wild-type residual activity. 1 PublicationCorresponds to variant rs758506791dbSNPEnsembl.1
    Natural variantiVAR_012801437I → V in MCC2D; mild form. Corresponds to variant rs119103224dbSNPEnsembl.1
    Natural variantiVAR_072532456A → V in MCC2D; shows virtually no enzyme activity. 2 PublicationsCorresponds to variant rs727504011dbSNPEnsembl.1
    Natural variantiVAR_067200459P → S in MCC2D. 1 PublicationCorresponds to variant rs754741111dbSNPEnsembl.1
    Natural variantiVAR_072533475G → R in MCC2D; has some wild-type residual activity. 1 PublicationCorresponds to variant rs148773718dbSNPEnsembl.1
    Natural variantiVAR_072534477Q → R in MCC2D. 2 PublicationsCorresponds to variant rs769558016dbSNPEnsembl.1
    Natural variantiVAR_072535517G → R in MCC2D. 2 Publications1
    Natural variantiVAR_072536520Y → S in MCC2D. 2 PublicationsCorresponds to variant rs150327768dbSNPEnsembl.1
    Natural variantiVAR_072537523S → G in MCC2D; has some wild-type residual activity. 2 Publications1
    Natural variantiVAR_072538555K → E in MCC2D. 1 Publication1

    Keywords - Diseasei

    Disease mutation

    Organism-specific databases

    DisGeNETi64087.
    MalaCardsiMCCC2.
    MIMi210210. phenotype.
    OpenTargetsiENSG00000131844.
    Orphaneti6. Isolated 3-methylcrotonyl-CoA carboxylase deficiency.
    PharmGKBiPA30681.

    Chemistry databases

    DrugBankiDB00121. Biotin.

    Polymorphism and mutation databases

    BioMutaiMCCC2.
    DMDMi20138731.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)DescriptionActionsGraphical viewLength
    Transit peptidei1 – 22Mitochondrion1 PublicationAdd BLAST22
    ChainiPRO_000000029123 – 563Methylcrotonoyl-CoA carboxylase beta chain, mitochondrialAdd BLAST541

    Amino acid modifications

    Feature keyPosition(s)DescriptionActionsGraphical viewLength
    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

    EPDiQ9HCC0.
    MaxQBiQ9HCC0.
    PaxDbiQ9HCC0.
    PeptideAtlasiQ9HCC0.
    PRIDEiQ9HCC0.

    2D gel databases

    REPRODUCTION-2DPAGEIPI00784044.

    PTM databases

    iPTMnetiQ9HCC0.
    PhosphoSitePlusiQ9HCC0.

    Expressioni

    Gene expression databases

    BgeeiENSG00000131844.
    CleanExiHS_MCCC2.
    ExpressionAtlasiQ9HCC0. baseline and differential.
    GenevisibleiQ9HCC0. HS.

    Organism-specific databases

    HPAiHPA038300.
    HPA038301.
    HPA061546.

    Interactioni

    Subunit structurei

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

    Protein-protein interaction databases

    BioGridi122050. 35 interactors.
    IntActiQ9HCC0. 19 interactors.
    MINTiMINT-8051924.
    STRINGi9606.ENSP00000343657.

    Structurei

    3D structure databases

    ProteinModelPortaliQ9HCC0.
    SMRiQ9HCC0.
    ModBaseiSearch...
    MobiDBiSearch...

    Family & Domainsi

    Domains and Repeats

    Feature keyPosition(s)DescriptionActionsGraphical viewLength
    Domaini49 – 306CoA carboxyltransferase N-terminalPROSITE-ProRule annotationAdd BLAST258
    Domaini309 – 555CoA carboxyltransferase C-terminalPROSITE-ProRule annotationAdd BLAST247

    Region

    Feature keyPosition(s)DescriptionActionsGraphical viewLength
    Regioni49 – 555CarboxyltransferasePROSITE-ProRule annotationAdd BLAST507
    Regioni343 – 372Acyl-CoA bindingSequence analysisAdd BLAST30

    Sequence similaritiesi

    Belongs to the AccD/PCCB family.Curated
    Contains 1 CoA carboxyltransferase C-terminal domain.PROSITE-ProRule annotation
    Contains 1 CoA carboxyltransferase N-terminal domain.PROSITE-ProRule annotation

    Keywords - Domaini

    Transit peptide

    Phylogenomic databases

    eggNOGiKOG0540. Eukaryota.
    COG4799. LUCA.
    GeneTreeiENSGT00530000063337.
    HOGENOMiHOG000218692.
    HOVERGENiHBG052424.
    InParanoidiQ9HCC0.
    KOiK01969.
    OMAiQCIVVAN.
    OrthoDBiEOG091G05B5.
    PhylomeDBiQ9HCC0.
    TreeFamiTF300446.

    Family and domain databases

    Gene3Di3.90.226.10. 2 hits.
    InterProiIPR000022. Carboxyl_trans.
    IPR029045. ClpP/crotonase-like_dom.
    IPR011763. COA_CT_C.
    IPR011762. COA_CT_N.
    [Graphical view]
    PfamiPF01039. Carboxyl_trans. 1 hit.
    [Graphical view]
    SUPFAMiSSF52096. SSF52096. 2 hits.
    PROSITEiPS50989. COA_CT_CTER. 1 hit.
    PS50980. COA_CT_NTER. 1 hit.
    [Graphical view]

    Sequences (2)i

    Sequence statusi: Complete.

    Sequence processingi: The displayed sequence is further processed into a mature form.

    This entry describes 2 isoformsi produced by alternative splicing. AlignAdd to basket

    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
    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

    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 rs398124371dbSNPEnsembl.1
    Natural variantiVAR_01279299E → Q in MCC2D; severe and mild form. 3 PublicationsCorresponds to variant rs28934883dbSNPEnsembl.1
    Natural variantiVAR_072508101S → F in MCC2D. 1 PublicationCorresponds to variant rs748028684dbSNPEnsembl.1
    Natural variantiVAR_072509118Missing in MCC2D; has some wild-type residual activity. 1 Publication1
    Natural variantiVAR_072510131C → F 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 rs119103220dbSNPEnsembl.1
    Natural variantiVAR_072513155R → W in MCC2D. 2 PublicationsCorresponds to variant rs141030969dbSNPEnsembl.1
    Natural variantiVAR_012794167C → R in MCC2D. 2 PublicationsCorresponds to variant rs28934884dbSNPEnsembl.1
    Natural variantiVAR_072514169Y → D in MCC2D. 1 Publication1
    Natural variantiVAR_012795173S → L in MCC2D; severe form. 2 PublicationsCorresponds to variant rs752866557dbSNPEnsembl.1
    Natural variantiVAR_072515190H → R in MCC2D. 2 PublicationsCorresponds to variant rs119103225dbSNPEnsembl.1
    Natural variantiVAR_072516190H → Y in MCC2D; produces severely decreased wild-type residual activity. 2 PublicationsCorresponds to variant rs773774134dbSNPEnsembl.1
    Natural variantiVAR_012796193R → C in MCC2D; mild form. 2 PublicationsCorresponds to variant rs547662164dbSNPEnsembl.1
    Natural variantiVAR_072517193R → H in MCC2D. 1 PublicationCorresponds to variant rs535519604dbSNPEnsembl.1
    Natural variantiVAR_072518200I → N in MCC2D. 1 PublicationCorresponds to variant rs140806722dbSNPEnsembl.1
    Natural variantiVAR_012797218A → T in MCC2D. 2 Publications1
    Natural variantiVAR_072519218A → V in MCC2D. 3 PublicationsCorresponds to variant rs760420191dbSNPEnsembl.1
    Natural variantiVAR_072520220G → E in MCC2D. 1 Publication1
    Natural variantiVAR_072521224P → L in MCC2D. 1 Publication1
    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 rs119103223dbSNPEnsembl.1
    Natural variantiVAR_072524268Missing in MCC2D. 1 Publication1
    Natural variantiVAR_067199280D → Y in MCC2D. 3 PublicationsCorresponds to variant rs119103226dbSNPEnsembl.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 rs119103221dbSNPEnsembl.1
    Natural variantiVAR_012800339V → M in MCC2D; severe form. 3 PublicationsCorresponds to variant rs150591260dbSNPEnsembl.1
    Natural variantiVAR_072526340D → V in MCC2D. 1 PublicationCorresponds to variant rs398124370dbSNPEnsembl.1
    Natural variantiVAR_072527352G → R in MCC2D; produces severely decreased wild-type residual activity. 1 PublicationCorresponds to variant rs765438239dbSNPEnsembl.1
    Natural variantiVAR_072528355L → F in MCC2D. 2 PublicationsCorresponds to variant rs757052602dbSNPEnsembl.1
    Natural variantiVAR_072529375V → F in MCC2D. 2 Publications1
    Natural variantiVAR_072530403N → T in MCC2D. 1 Publication1
    Natural variantiVAR_072531434V → L in MCC2D; has some wild-type residual activity. 1 PublicationCorresponds to variant rs758506791dbSNPEnsembl.1
    Natural variantiVAR_012801437I → V in MCC2D; mild form. Corresponds to variant rs119103224dbSNPEnsembl.1
    Natural variantiVAR_072532456A → V in MCC2D; shows virtually no enzyme activity. 2 PublicationsCorresponds to variant rs727504011dbSNPEnsembl.1
    Natural variantiVAR_067200459P → S in MCC2D. 1 PublicationCorresponds to variant rs754741111dbSNPEnsembl.1
    Natural variantiVAR_072533475G → R in MCC2D; has some wild-type residual activity. 1 PublicationCorresponds to variant rs148773718dbSNPEnsembl.1
    Natural variantiVAR_072534477Q → R in MCC2D. 2 PublicationsCorresponds to variant rs769558016dbSNPEnsembl.1
    Natural variantiVAR_038630478A → G.Corresponds to variant rs35068278dbSNPEnsembl.1
    Natural variantiVAR_072535517G → R in MCC2D. 2 Publications1
    Natural variantiVAR_072536520Y → S in MCC2D. 2 PublicationsCorresponds to variant rs150327768dbSNPEnsembl.1
    Natural variantiVAR_072537523S → G in MCC2D; has some wild-type residual activity. 2 Publications1
    Natural variantiVAR_072538555K → E in MCC2D. 1 Publication1

    Alternative sequence

    Feature keyPosition(s)DescriptionActionsGraphical viewLength
    Alternative sequenceiVSP_000069209 – 246Missing in isoform 2. 1 PublicationAdd BLAST38

    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. [Q9HCC0-2]
    UniGeneiHs.604789.

    Genome annotation databases

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

    Keywords - Coding sequence diversityi

    Alternative splicing

    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. [Q9HCC0-2]
    UniGeneiHs.604789.

    3D structure databases

    ProteinModelPortaliQ9HCC0.
    SMRiQ9HCC0.
    ModBaseiSearch...
    MobiDBiSearch...

    Protein-protein interaction databases

    BioGridi122050. 35 interactors.
    IntActiQ9HCC0. 19 interactors.
    MINTiMINT-8051924.
    STRINGi9606.ENSP00000343657.

    Chemistry databases

    DrugBankiDB00121. Biotin.

    PTM databases

    iPTMnetiQ9HCC0.
    PhosphoSitePlusiQ9HCC0.

    Polymorphism and mutation databases

    BioMutaiMCCC2.
    DMDMi20138731.

    2D gel databases

    REPRODUCTION-2DPAGEIPI00784044.

    Proteomic databases

    EPDiQ9HCC0.
    MaxQBiQ9HCC0.
    PaxDbiQ9HCC0.
    PeptideAtlasiQ9HCC0.
    PRIDEiQ9HCC0.

    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

    CTDi64087.
    DisGeNETi64087.
    GeneCardsiMCCC2.
    HGNCiHGNC:6937. MCCC2.
    HPAiHPA038300.
    HPA038301.
    HPA061546.
    MalaCardsiMCCC2.
    MIMi210210. phenotype.
    609014. gene.
    neXtProtiNX_Q9HCC0.
    OpenTargetsiENSG00000131844.
    Orphaneti6. Isolated 3-methylcrotonyl-CoA carboxylase deficiency.
    PharmGKBiPA30681.
    GenAtlasiSearch...

    Phylogenomic databases

    eggNOGiKOG0540. Eukaryota.
    COG4799. LUCA.
    GeneTreeiENSGT00530000063337.
    HOGENOMiHOG000218692.
    HOVERGENiHBG052424.
    InParanoidiQ9HCC0.
    KOiK01969.
    OMAiQCIVVAN.
    OrthoDBiEOG091G05B5.
    PhylomeDBiQ9HCC0.
    TreeFamiTF300446.

    Enzyme and pathway databases

    UniPathwayiUPA00363; UER00861.
    BioCyciMetaCyc:ENSG00000131844-MONOMER.
    ZFISH: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

    GenomeRNAii64087.
    PROiQ9HCC0.
    SOURCEiSearch...

    Gene expression databases

    BgeeiENSG00000131844.
    CleanExiHS_MCCC2.
    ExpressionAtlasiQ9HCC0. baseline and differential.
    GenevisibleiQ9HCC0. HS.

    Family and domain databases

    Gene3Di3.90.226.10. 2 hits.
    InterProiIPR000022. Carboxyl_trans.
    IPR029045. ClpP/crotonase-like_dom.
    IPR011763. COA_CT_C.
    IPR011762. COA_CT_N.
    [Graphical view]
    PfamiPF01039. Carboxyl_trans. 1 hit.
    [Graphical view]
    SUPFAMiSSF52096. SSF52096. 2 hits.
    PROSITEiPS50989. COA_CT_CTER. 1 hit.
    PS50980. COA_CT_NTER. 1 hit.
    [Graphical view]
    ProtoNetiSearch...

    Entry informationi

    Entry nameiMCCB_HUMAN
    AccessioniPrimary (citable) accession number: Q9HCC0
    Secondary accession number(s): A6NIY9, Q96C27, Q9Y4L7
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: March 5, 2002
    Last sequence update: March 1, 2001
    Last modified: November 2, 2016
    This is version 154 of the entry and version 1 of the sequence. [Complete history]
    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.

    Miscellaneousi

    Keywords - Technical termi

    Complete proteome, 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 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. SIMILARITY comments
      Index of protein domains and families

    Similar proteinsi

    Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
    100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
    90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
    50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.