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Protein

Methylcrotonoyl-CoA carboxylase beta chain, mitochondrial

Gene

MCCC2

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

    GO - Biological processi

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

    Keywordsi

    Molecular functionLigase
    LigandATP-binding, Nucleotide-binding

    Enzyme and pathway databases

    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
    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

    EuPathDBiHostDB:ENSG00000131844.15
    HGNCiHGNC:6937 MCCC2
    MIMi609014 gene
    neXtProtiNX_Q9HCC0

    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

    Pathology & Biotechi

    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
    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 Publication1
    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:rs141030969Ensembl.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:rs760420191Ensembl.1
    Natural variantiVAR_072520220G → E in MCC2D. 1 Publication1
    Natural variantiVAR_072521224P → L in MCC2D. 1 Publication1
    Natural variantiVAR_077297230N → D in MCC2D. 1 PublicationCorresponds to variant dbSNP:rs766753795Ensembl.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 Publication1
    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 Publication1
    Natural variantiVAR_077301393Q → P in MCC2D. 1 Publication1
    Natural variantiVAR_072530403N → T in MCC2D. 1 Publication1
    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 Publications1
    Natural variantiVAR_077306524A → T in MCC2D. 1 PublicationCorresponds to variant dbSNP:rs774241918Ensembl.1
    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, 36 interactors
    IntActiQ9HCC0, 20 interactors
    MINTiQ9HCC0
    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

    Keywords - Domaini

    Transit peptide

    Phylogenomic databases

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

    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

    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 dbSNP:rs398124371EnsemblClinVar.1
    Natural variantiVAR_07729168G → V in MCC2D; unknown pathological significance. 1 Publication1
    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:rs141030969Ensembl.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:rs760420191Ensembl.1
    Natural variantiVAR_072520220G → E in MCC2D. 1 Publication1
    Natural variantiVAR_072521224P → L in MCC2D. 1 Publication1
    Natural variantiVAR_077297230N → D in MCC2D. 1 PublicationCorresponds to variant dbSNP:rs766753795Ensembl.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 Publication1
    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 Publication1
    Natural variantiVAR_077301393Q → P in MCC2D. 1 Publication1
    Natural variantiVAR_072530403N → T in MCC2D. 1 Publication1
    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 Publications1
    Natural variantiVAR_077306524A → T in MCC2D. 1 PublicationCorresponds to variant dbSNP:rs774241918Ensembl.1
    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

    Similar proteinsi

    Entry informationi

    Entry nameiMCCB_HUMAN
    AccessioniPrimary (citable) accession number: Q9HCC0
    Secondary accession number(s): A6NIY9, Q96C27, Q9Y4L7
    Entry historyiIntegrated into UniProtKB/Swiss-Prot: March 5, 2002
    Last sequence update: March 1, 2001
    Last modified: May 23, 2018
    This is version 169 of the entry and version 1 of the sequence. See 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

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