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    PCCB propionyl-CoA carboxylase subunit beta [ Homo sapiens (human) ]

    Gene ID: 5096, updated on 11-Jul-2021

    Summary

    Official Symbol
    PCCBprovided by HGNC
    Official Full Name
    propionyl-CoA carboxylase subunit betaprovided by HGNC
    Primary source
    HGNC:HGNC:8654
    See related
    Ensembl:ENSG00000114054 MIM:232050
    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
    Summary
    The protein encoded by this gene is a subunit of the propionyl-CoA carboxylase (PCC) enzyme, which is involved in the catabolism of propionyl-CoA. PCC is a mitochondrial enzyme that probably acts as a dodecamer of six alpha subunits and six beta subunits. This gene encodes the beta subunit of PCC. Defects in this gene are a cause of propionic acidemia type II (PA-2). Multiple transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, May 2010]
    Expression
    Ubiquitous expression in liver (RPKM 38.7), kidney (RPKM 36.6) and 25 other tissues See more
    Orthologs
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    Genomic context

    See PCCB in Genome Data Viewer
    Location:
    3q22.3
    Exon count:
    17
    Annotation release Status Assembly Chr Location
    109.20210514 current GRCh38.p13 (GCF_000001405.39) 3 NC_000003.12 (136250340..136330169)
    105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (135969182..136049011)

    Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene Sharpr-MPRA regulatory region 3094 Neighboring gene ribosomal protein L31 pseudogene 23 Neighboring gene stromal antigen 1 Neighboring gene RNA, U6 small nuclear 1284, pseudogene Neighboring gene RNY4 pseudogene 4

    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?

    Phenotypes

    Associated conditions

    Description Tests
    Association of novel genetic Loci with circulating fibrinogen levels: a genome-wide association study in 6 population-based cohorts.
    GeneReviews: Not available
    Biological insights from 108 schizophrenia-associated genetic loci.
    GeneReviews: Not available
    Hundreds of variants clustered in genomic loci and biological pathways affect human height.
    GeneReviews: Not available
    Multiethnic meta-analysis of genome-wide association studies in >100 000 subjects identifies 23 fibrinogen-associated Loci but no strong evidence of a causal association between circulating fibrinogen and cardiovascular disease.
    GeneReviews: Not available
    Propionic acidemia
    MedGen: C0268579 OMIM: 606054 GeneReviews: Propionic Acidemia
    Compare labs

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Clone Names

    • DKFZp451E113

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables ATP binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables propionyl-CoA carboxylase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in short-chain fatty acid catabolic process IC
    Inferred by Curator
    more info
    PubMed 
    Component Evidence Code Pubs
    located_in cytosol TAS
    Traceable Author Statement
    more info
     
    located_in mitochondrial matrix IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in mitochondrial matrix TAS
    Traceable Author Statement
    more info
     
    located_in mitochondrion TAS
    Traceable Author Statement
    more info
    PubMed 

    General protein information

    Preferred Names
    propionyl-CoA carboxylase beta chain, mitochondrial
    Names
    PCCase subunit beta
    propanoyl-CoA:carbon dioxide ligase subunit beta
    propionyl CoA carboxylase, beta polypeptide
    propionyl Coenzyme A carboxylase, beta polypeptide
    propionyl-CoA carboxylase beta subunit
    NP_000523.2
    NP_001171485.1
    XP_011511175.1

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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_008939.1 RefSeqGene

      Range
      5016..84845
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_000532.5NP_000523.2  propionyl-CoA carboxylase beta chain, mitochondrial isoform 1 precursor

      See identical proteins and their annotated locations for NP_000523.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the shorter transcript and encodes the shorter isoform (1).
      Source sequence(s)
      BC013768, DA090969
      Consensus CDS
      CCDS3089.1
      UniProtKB/Swiss-Prot
      P05166
      Related
      ENSP00000251654.4, ENST00000251654.9
      Conserved Domains (1) summary
      COG4799
      Location:37539
      MmdA; Acetyl-CoA carboxylase, carboxyltransferase component [Lipid transport and metabolism]
    2. NM_001178014.2NP_001171485.1  propionyl-CoA carboxylase beta chain, mitochondrial isoform 2 precursor

      See identical proteins and their annotated locations for NP_001171485.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) has an alternate in-frame exon in the 5' coding region compared to variant 1. The resulting protein (isoform 2) is longer compared to isoform 1.
      Source sequence(s)
      AC069524, AK295312
      Consensus CDS
      CCDS54643.1
      UniProtKB/Swiss-Prot
      P05166
      Related
      ENSP00000419027.1, ENST00000469217.5
      Conserved Domains (2) summary
      COG4799
      Location:37559
      MmdA; Acetyl-CoA carboxylase, carboxyltransferase component [Lipid transport and metabolism]
      cl23717
      Location:63230
      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. ...

    RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20210514

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

    Reference GRCh38.p13 Primary Assembly

    Genomic

    1. NC_000003.12 Reference GRCh38.p13 Primary Assembly

      Range
      136250340..136330169
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011512873.2XP_011511175.1  propionyl-CoA carboxylase beta chain, mitochondrial isoform X1

      Related
      ENSP00000417937.1, ENST00000484181.5
      Conserved Domains (2) summary
      COG4799
      Location:37362
      MmdA; Acetyl-CoA carboxylase, carboxyltransferase component [Lipid transport and metabolism]
      cl23717
      Location:63210
      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. ...
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