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MCCC1 methylcrotonoyl-CoA carboxylase 1 [ Homo sapiens (human) ]

Gene ID: 56922, updated on 9-Dec-2018

Summary

Official Symbol
MCCC1provided by HGNC
Official Full Name
methylcrotonoyl-CoA carboxylase 1provided by HGNC
Primary source
HGNC:HGNC:6936
See related
Ensembl:ENSG00000078070 MIM:609010
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
MCCA; MCC-B
Summary
This gene encodes the large subunit of 3-methylcrotonyl-CoA carboxylase. This enzyme functions as a heterodimer and catalyzes the carboxylation of 3-methylcrotonyl-CoA to form 3-methylglutaconyl-CoA. Mutations in this gene are associated with 3-Methylcrotonylglycinuria, an autosomal recessive disorder of leucine catabolism. [provided by RefSeq, Jul 2008]
Expression
Ubiquitous expression in fat (RPKM 22.0), kidney (RPKM 20.5) and 25 other tissues See more
Orthologs

Genomic context

See MCCC1 in Genome Data Viewer
Location:
3q27.1
Exon count:
22
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 3 NC_000003.12 (183015218..183099587, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (182733006..182817373, complement)

Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene defective in cullin neddylation 1 domain containing 1 Neighboring gene chromosome 9 open reading frame 85 pseudogene Neighboring gene uncharacterized LOC105374246 Neighboring gene uncharacterized LOC105374247 Neighboring gene lysosomal associated membrane protein 3

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Jun 15 11:32:44 2016

Bibliography

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
3 Methylcrotonyl-CoA carboxylase 1 deficiency
MedGen: CN028786 OMIM: 210200 GeneReviews: Not available
Compare labs

NHGRI GWAS Catalog

Description
An atlas of genetic influences on human blood metabolites.
NHGRI GWA Catalog
Imputation of sequence variants for identification of genetic risks for Parkinson's disease: a meta-analysis of genome-wide association studies.
NHGRI GWA Catalog
Large-scale meta-analysis of genome-wide association data identifies six new risk loci for Parkinson's disease.
NHGRI GWA Catalog
Web-based genome-wide association study identifies two novel loci and a substantial genetic component for Parkinson's disease.
NHGRI GWA Catalog

HIV-1 interactions

Protein interactions

Protein Gene Interaction Pubs
Pr55(Gag) gag HIV-1 Gag interacts with MCCC1 as demonstrated by proximity dependent biotinylation proteomics PubMed

Go to the HIV-1, Human Interaction Database

Pathways from BioSystems

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ25545, DKFZp686B20267

Gene Ontology Provided by GOA

Function Evidence Code Pubs
ATP binding IEA
Inferred from Electronic Annotation
more info
 
biotin binding NAS
Non-traceable Author Statement
more info
PubMed 
biotin carboxylase activity NAS
Non-traceable Author Statement
more info
PubMed 
metal ion binding IEA
Inferred from Electronic Annotation
more info
 
contributes_to methylcrotonoyl-CoA carboxylase activity IDA
Inferred from Direct Assay
more info
PubMed 
contributes_to methylcrotonoyl-CoA carboxylase activity NAS
Non-traceable Author Statement
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
biotin metabolic process NAS
Non-traceable Author Statement
more info
PubMed 
biotin metabolic process TAS
Traceable Author Statement
more info
 
leucine catabolic process IEA
Inferred from Electronic Annotation
more info
 
leucine catabolic process ISS
Inferred from Sequence or Structural Similarity
more info
PubMed 
leucine catabolic process NAS
Non-traceable Author Statement
more info
PubMed 
protein heterooligomerization NAS
Non-traceable Author Statement
more info
PubMed 
Component Evidence Code Pubs
3-methylcrotonyl-CoA carboxylase complex, mitochondrial NAS
Non-traceable Author Statement
more info
PubMed 
3-methylcrotonyl-CoA carboxylase complex, mitochondrial TAS
Traceable Author Statement
more info
PubMed 
cytosol TAS
Traceable Author Statement
more info
 
methylcrotonoyl-CoA carboxylase complex IDA
Inferred from Direct Assay
more info
PubMed 
mitochondrial matrix IDA
Inferred from Direct Assay
more info
PubMed 
mitochondrial matrix NAS
Non-traceable Author Statement
more info
PubMed 
mitochondrial matrix TAS
Traceable Author Statement
more info
 
mitochondrion IDA
Inferred from Direct Assay
more info
 

General protein information

Preferred Names
methylcrotonoyl-CoA carboxylase subunit alpha, mitochondrial
Names
3-methylcrotonyl-CoA carboxylase 1
3-methylcrotonyl-CoA carboxylase biotin-containing subunit
3-methylcrotonyl-CoA:carbon dioxide ligase subunit alpha
MCCase subunit alpha
methylcrotonoyl-CoA carboxylase 1 (alpha)
methylcrotonoyl-CoA carboxylase alpha
methylcrotonoyl-Coenzyme A carboxylase 1 (alpha)
NP_001280202.1
NP_064551.3
XP_006713765.1
XP_011511294.1

NCBI Reference Sequences (RefSeq)

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_008100.1 RefSeqGene

    Range
    4991..89360
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001293273.1NP_001280202.1  methylcrotonoyl-CoA carboxylase subunit alpha, mitochondrial isoform 2

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) differs in the 5' UTR, lacks a portion of the 5' coding region, and initiates translation at an alternate start codon, compared to variant 1. The encoded protein (isoform 2) has a shorter and distinct N-terminus, compared to isoform 1.
    Source sequence(s)
    AB029826, BC004214, CR749608, DA487016
    UniProtKB/Swiss-Prot
    Q96RQ3
    UniProtKB/TrEMBL
    Q68D27
    Related
    ENSP00000480435.1, ENST00000610757.4
    Conserved Domains (3) summary
    cd06850
    Location:534597
    biotinyl_domain; The biotinyl-domain or biotin carboxyl carrier protein (BCCP) domain is present in all biotin-dependent enzymes, such as acetyl-CoA carboxylase, pyruvate carboxylase, propionyl-CoA carboxylase, methylcrotonyl-CoA carboxylase, geranyl-CoA carboxylase, ...
    smart00878
    Location:266372
    Biotin_carb_C; Biotin carboxylase C-terminal domain
    pfam02786
    Location:48252
    CPSase_L_D2; Carbamoyl-phosphate synthase L chain, ATP binding domain
  2. NM_001363880.1NP_001350809.1  methylcrotonoyl-CoA carboxylase subunit alpha, mitochondrial isoform 3

    Status: VALIDATED

    Description
    Transcript Variant: This variant (5) differs in the 5' UTR and coding sequence compared to variant 1. The resulting isoform (3) is shorter at the N-terminus compared to isoform 1.
    Source sequence(s)
    AC104641, AC108741
    Consensus CDS
    CCDS87170.1
    Conserved Domains (1) summary
    cl27361
    Location:2607
    Biotin_carb_C; Biotin carboxylase C-terminal domain
  3. NM_020166.5NP_064551.3  methylcrotonoyl-CoA carboxylase subunit alpha, mitochondrial isoform 1 precursor

    See identical proteins and their annotated locations for NP_064551.3

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) encodes the longer isoform (1).
    Source sequence(s)
    AB029826, AL556872, BC004214
    Consensus CDS
    CCDS3241.1
    UniProtKB/Swiss-Prot
    Q96RQ3
    UniProtKB/TrEMBL
    A0A0S2Z693
    Related
    ENSP00000265594.4, ENST00000265594.8
    Conserved Domains (5) summary
    cd06850
    Location:651714
    biotinyl_domain; The biotinyl-domain or biotin carboxyl carrier protein (BCCP) domain is present in all biotin-dependent enzymes, such as acetyl-CoA carboxylase, pyruvate carboxylase, propionyl-CoA carboxylase, methylcrotonyl-CoA carboxylase, geranyl-CoA carboxylase, ...
    smart00878
    Location:383489
    Biotin_carb_C; Biotin carboxylase C-terminal domain
    COG4770
    Location:49716
    PccA; Acetyl/propionyl-CoA carboxylase, alpha subunit [Lipid transport and metabolism]
    pfam00289
    Location:49157
    CPSase_L_chain; Carbamoyl-phosphate synthase L chain, N-terminal domain
    pfam02786
    Location:163369
    CPSase_L_D2; Carbamoyl-phosphate synthase L chain, ATP binding domain

RNA

  1. NR_120639.1 RNA Sequence

    Status: VALIDATED

    Description
    Transcript Variant: This variant (3) lacks two internal exons, compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
    Source sequence(s)
    AB029826, AK294882, AL556872, BC004214, DA487016
    Related
    ENST00000495767.5
  2. NR_120640.1 RNA Sequence

    Status: VALIDATED

    Description
    Transcript Variant: This variant (4) has multiple differences, compared to variant 1. This variant is represented as non-coding because the predicted protein does not meet RefSeq quality criteria.
    Source sequence(s)
    AC104641, AL556872, BC004214, BC042453
    Related
    ENST00000497959.5

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000003.12 Reference GRCh38.p12 Primary Assembly

    Range
    183015218..183099587 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_006713702.1XP_006713765.1  methylcrotonoyl-CoA carboxylase subunit alpha, mitochondrial isoform X2

    UniProtKB/TrEMBL
    E9PHF7
    Related
    ENSP00000419898.1, ENST00000492597.5
    Conserved Domains (1) summary
    cl27361
    Location:2607
    Biotin_carb_C; Biotin carboxylase C-terminal domain
  2. XM_011512992.2XP_011511294.1  methylcrotonoyl-CoA carboxylase subunit alpha, mitochondrial isoform X1

    Conserved Domains (5) summary
    cd06850
    Location:613676
    biotinyl_domain; The biotinyl-domain or biotin carboxyl carrier protein (BCCP) domain is present in all biotin-dependent enzymes, such as acetyl-CoA carboxylase, pyruvate carboxylase, propionyl-CoA carboxylase, methylcrotonyl-CoA carboxylase, geranyl-CoA carboxylase, ...
    smart00878
    Location:345451
    Biotin_carb_C; Biotin carboxylase C-terminal domain
    COG4770
    Location:11678
    PccA; Acetyl/propionyl-CoA carboxylase, alpha subunit [Lipid transport and metabolism]
    pfam00289
    Location:11119
    CPSase_L_chain; Carbamoyl-phosphate synthase L chain, N-terminal domain
    pfam02786
    Location:125331
    CPSase_L_D2; Carbamoyl-phosphate synthase L chain, ATP binding domain

RNA

  1. XR_001740209.2 RNA Sequence

  2. XR_241502.3 RNA Sequence

    Related
    ENST00000629669.2
  3. XR_001740208.2 RNA Sequence

  4. XR_001740210.1 RNA Sequence

    Related
    ENST00000497830.5
  5. XR_001740207.2 RNA Sequence

  6. XR_002959554.1 RNA Sequence

  7. XR_002959553.1 RNA Sequence

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