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MCCC2 methylcrotonyl-CoA carboxylase subunit 2 [ Homo sapiens (human) ]

Gene ID: 64087, updated on 25-Nov-2021

Summary

Official Symbol
MCCC2provided by HGNC
Official Full Name
methylcrotonyl-CoA carboxylase subunit 2provided by HGNC
Primary source
HGNC:HGNC:6937
See related
Ensembl:ENSG00000131844 MIM:609014
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
MCCB; MCCCbeta
Summary
This gene encodes the small 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. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, May 2018]
Expression
Ubiquitous expression in prostate (RPKM 27.1), kidney (RPKM 27.0) and 25 other tissues See more
Orthologs
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Genomic context

See MCCC2 in Genome Data Viewer
Location:
5q13.2
Exon count:
19
Annotation release Status Assembly Chr Location
109.20211119 current GRCh38.p13 (GCF_000001405.39) 5 NC_000005.10 (71587340..71658706)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 5 NC_000005.9 (70883167..70954533)

Chromosome 5 - NC_000005.10Genomic Context describing neighboring genes Neighboring gene Sharpr-MPRA regulatory region 10712 Neighboring gene B double prime 1, subunit of RNA polymerase III transcription initiation factor IIIB Neighboring gene high mobility group nucleosome binding domain 1 pseudogene 12 Neighboring gene CART prepropeptide Neighboring gene catenin beta 1 pseudogene

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 Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables ATP binding IEA
Inferred from Electronic Annotation
more info
 
contributes_to methylcrotonoyl-CoA carboxylase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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 
enables protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
involved_in coenzyme A metabolic process IEA
Inferred from Electronic Annotation
more info
 
involved_in leucine catabolic process IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in leucine catabolic process IEA
Inferred from Electronic Annotation
more info
 
involved_in leucine catabolic process TAS
Traceable Author Statement
more info
PubMed 

General protein information

Preferred Names
methylcrotonoyl-CoA carboxylase beta chain, mitochondrial
Names
3-methylcrotonyl-CoA carboxylase 2
3-methylcrotonyl-CoA carboxylase non-biotin-containing subunit
3-methylcrotonyl-CoA:carbon dioxide ligase subunit beta
MCCase subunit beta
biotin carboxylase
methylcrotonoyl-CoA carboxylase 2 (beta)
methylcrotonoyl-Coenzyme A carboxylase 2 (beta)
non-biotin containing subunit of 3-methylcrotonyl-CoA carboxylase
testicular secretory protein Li 29
NP_001350076.1
NP_071415.1
XP_011541831.1
XP_016865177.1

NCBI Reference Sequences (RefSeq)

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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_008882.1 RefSeqGene

    Range
    5053..76419
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001363147.1NP_001350076.1  methylcrotonoyl-CoA carboxylase beta chain, mitochondrial isoform 2 precursor

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) lacks an in-frame exon compared to variant 1 and encodes a shorter isoform (2) compared to isoform 1.
    Source sequence(s)
    AC138832, AC143336
    Related
    ENSP00000507012.1, ENST00000683789.1
    Conserved Domains (1) summary
    cl27613
    Location:36525
    Carboxyl_trans; Carboxyl transferase domain
  2. NM_022132.5NP_071415.1  methylcrotonoyl-CoA carboxylase beta chain, mitochondrial isoform 1 precursor

    See identical proteins and their annotated locations for NP_071415.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) encodes the longer isoform (1).
    Source sequence(s)
    AB050049, AC143336, AK025591, CN309723
    Consensus CDS
    CCDS34184.1
    UniProtKB/Swiss-Prot
    Q9HCC0
    UniProtKB/TrEMBL
    A0A140VK29
    Related
    ENSP00000343657.6, ENST00000340941.11
    Conserved Domains (1) summary
    cl27613
    Location:36563
    Carboxyl_trans; Carboxyl transferase domain

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20211119

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000005.10 Reference GRCh38.p13 Primary Assembly

    Range
    71587340..71658706
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017009688.1XP_016865177.1  methylcrotonoyl-CoA carboxylase beta chain, mitochondrial isoform X2

    Related
    ENSP00000420994.3, ENST00000509358.7
  2. XM_011543529.2XP_011541831.1  methylcrotonoyl-CoA carboxylase beta chain, mitochondrial isoform X3

    Conserved Domains (1) summary
    cl23717
    Location:84255
    crotonase-like; Crotonase/Enoyl-Coenzyme A (CoA) hydratase superfamily. This superfamily contains a diverse set of enzymes including enoyl-CoA hydratase, napthoate synthase, methylmalonyl-CoA decarboxylase, 3-hydoxybutyryl-CoA dehydratase, and dienoyl-CoA isomerase. ...

RNA

  1. XR_001742172.1 RNA Sequence

    Related
    ENST00000683882.1

Reference GRCh38.p13 ALT_REF_LOCI_1

Genomic

  1. NW_003315917.2 Reference GRCh38.p13 ALT_REF_LOCI_1

    Range
    1585825..1610592
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Reference GRCh38.p13 ALT_REF_LOCI_2

Genomic

  1. NT_187651.1 Reference GRCh38.p13 ALT_REF_LOCI_2

    Range
    1117315..1142082
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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