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

Gene ID: 5096, updated on 3-Mar-2019

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

Genomic context

See PCCB in Genome Data Viewer
Location:
3q22.3
Exon count:
17
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 3 NC_000003.12 (136250325..136330171)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (135969167..136056737)

Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene teratocarcinoma-derived growth factor 1 pseudogene 6 Neighboring gene MSL complex subunit 2 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 FunctionsWhat's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
Propionyl-CoA carboxylase deficiency
MedGen: C0268579 OMIM: 606054 GeneReviews: Propionic Acidemia
Compare labs

NHGRI GWAS Catalog

Description
Association of novel genetic Loci with circulating fibrinogen levels: a genome-wide association study in 6 population-based cohorts.
NHGRI GWA Catalog
Biological insights from 108 schizophrenia-associated genetic loci.
NHGRI GWA Catalog
Hundreds of variants clustered in genomic loci and biological pathways affect human height.
NHGRI GWA Catalog
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.
NHGRI GWA Catalog

Pathways from BioSystems

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
ATP binding IEA
Inferred from Electronic Annotation
more info
 
propionyl-CoA carboxylase activity IEA
Inferred from Electronic Annotation
more info
 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
biotin metabolic process TAS
Traceable Author Statement
more info
 
short-chain fatty acid catabolic process TAS
Traceable Author Statement
more info
 
Component Evidence Code Pubs
cytosol TAS
Traceable Author Statement
more info
 
mitochondrial matrix TAS
Traceable Author Statement
more info
 
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)

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
    5001..84847
    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, ENST00000251654.8
    Conserved Domains (1) summary
    COG4799
    Location:37539
    MmdA; Acetyl-CoA carboxylase, carboxyltransferase component [Lipid transport and metabolism]
  2. NM_001178014.1NP_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, AI191766, 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 Annotation Release 109

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
    136250325..136330171
    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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