Format

Send to:

Choose Destination

PCCA propionyl-CoA carboxylase subunit alpha [ Homo sapiens (human) ]

Gene ID: 5095, updated on 3-Mar-2019

Summary

Official Symbol
PCCAprovided by HGNC
Official Full Name
propionyl-CoA carboxylase subunit alphaprovided by HGNC
Primary source
HGNC:HGNC:8653
See related
Ensembl:ENSG00000175198 MIM:232000
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 the alpha subunit of the heterodimeric mitochondrial enzyme Propionyl-CoA carboxylase. PCCA encodes the biotin-binding region of this enzyme. Mutations in either PCCA or PCCB (encoding the beta subunit) lead to an enzyme deficiency resulting in propionic acidemia. Multiple transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, May 2010]
Expression
Broad expression in kidney (RPKM 11.9), liver (RPKM 5.1) and 23 other tissues See more
Orthologs

Genomic context

See PCCA in Genome Data Viewer
Location:
13q32.3
Exon count:
32
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 13 NC_000013.11 (100089015..100530437)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 13 NC_000013.10 (100741269..101182691)

Chromosome 13 - NC_000013.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105370333 Neighboring gene asparagine synthetase pseudogene 3 Neighboring gene ribosomal protein L15 pseudogene 18 Neighboring gene uncharacterized LOC107984575 Neighboring gene uncharacterized LOC105370335 Neighboring gene uncharacterized LOC107984574 Neighboring gene PCCA antisense RNA 1 Neighboring gene ribosomal protein L7 like 1 pseudogene 6 Neighboring gene ribosomal protein S26 pseudogene 47 Neighboring gene gamma-glutamylamine cyclotransferase Neighboring gene transmembrane and tetratricopeptide repeat containing 4 Neighboring gene cytochrome c oxidase subunit 5B pseudogene 6

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

Related articles in PubMed

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
Genome-wide meta-analyses of multiancestry cohorts identify multiple new susceptibility loci for refractive error and myopia.
NHGRI GWA Catalog

Pathways from BioSystems

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
ATP binding IEA
Inferred from Electronic Annotation
more info
 
biotin binding TAS
Traceable Author Statement
more info
PubMed 
enzyme binding IPI
Inferred from Physical Interaction
more info
PubMed 
metal ion 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
 

General protein information

Preferred Names
propionyl-CoA carboxylase alpha chain, mitochondrial
Names
PCCase alpha subunit
pccA complementation group
propanoyl-CoA:carbon dioxide ligase alpha subunit
propionyl CoA carboxylase, alpha polypeptide
propionyl Coenzyme A carboxylase, alpha polypeptide
propionyl-CoA carboxylase alpha subunit
NP_000273.2
NP_001121164.1
NP_001171475.1
NP_001339534.1
NP_001339535.1
NP_001339536.1
NP_001339537.1
NP_001339538.1
NP_001339539.1
NP_001339540.1
NP_001339541.1
XP_011519395.1
XP_016876094.1
XP_016876095.1
XP_016876096.1
XP_016876098.1
XP_016876100.1
XP_016876101.1
XP_016876102.1
XP_016876104.1
XP_016876105.1

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_008768.1 RefSeqGene

    Range
    4933..446355
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_000282.4NP_000273.2  propionyl-CoA carboxylase alpha chain, mitochondrial isoform a precursor

    See identical proteins and their annotated locations for NP_000273.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) encodes the longest isoform (a).
    Source sequence(s)
    AF385926, BC000140
    Consensus CDS
    CCDS9496.2
    UniProtKB/Swiss-Prot
    P05165
    Related
    ENSP00000365462.1, ENST00000376285.5
    Conserved Domains (5) summary
    cd06850
    Location:661727
    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:397504
    Biotin_carb_C; Biotin carboxylase C-terminal domain
    COG4770
    Location:63728
    PccA; Acetyl/propionyl-CoA carboxylase, alpha subunit [Lipid transport and metabolism]
    pfam00289
    Location:63171
    CPSase_L_chain; Carbamoyl-phosphate synthase L chain, N-terminal domain
    pfam02786
    Location:176383
    CPSase_L_D2; Carbamoyl-phosphate synthase L chain, ATP binding domain
  2. NM_001127692.2NP_001121164.1  propionyl-CoA carboxylase alpha chain, mitochondrial isoform b

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) lacks an alternate in-frame exon compared to variant 1. The resulting isoform (b) has the same N- and C-termini but is shorter compared to NM_000282.3.
    Source sequence(s)
    AF385926, AL355338, BC000140, CB851764, DA781564
    Consensus CDS
    CCDS45065.1
    UniProtKB/Swiss-Prot
    P05165
    Related
    ENSP00000365463.4, ENST00000376286.8
    Conserved Domains (5) summary
    cd06850
    Location:635701
    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:371478
    Biotin_carb_C; Biotin carboxylase C-terminal domain
    COG4770
    Location:37702
    PccA; Acetyl/propionyl-CoA carboxylase, alpha subunit [Lipid transport and metabolism]
    pfam00289
    Location:37145
    CPSase_L_chain; Carbamoyl-phosphate synthase L chain, N-terminal domain
    pfam02786
    Location:150357
    CPSase_L_D2; Carbamoyl-phosphate synthase L chain, ATP binding domain
  3. NM_001178004.1NP_001171475.1  propionyl-CoA carboxylase alpha chain, mitochondrial isoform c precursor

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) lacks an alternate in-frame exon in the 3' coding region compared to variant 1. The resulting protein (isoform c) is shorter compared to isoform a.
    Source sequence(s)
    AK298318, AL355338, AL356575, CB851764
    Consensus CDS
    CCDS53878.1
    UniProtKB/Swiss-Prot
    P05165
    Related
    ENSP00000365456.3, ENST00000376279.7
    Conserved Domains (5) summary
    cd06850
    Location:631680
    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:397504
    Biotin_carb_C; Biotin carboxylase C-terminal domain
    COG4770
    Location:63681
    PccA; Acetyl/propionyl-CoA carboxylase, alpha subunit [Lipid transport and metabolism]
    pfam00289
    Location:63171
    CPSase_L_chain; Carbamoyl-phosphate synthase L chain, N-terminal domain
    pfam02786
    Location:176383
    CPSase_L_D2; Carbamoyl-phosphate synthase L chain, ATP binding domain
  4. NM_001352605.1NP_001339534.1  propionyl-CoA carboxylase alpha chain, mitochondrial isoform d precursor

    Status: REVIEWED

    Source sequence(s)
    AL136526, AL353697, AL355338, AL356575
    Conserved Domains (1) summary
    COG4770
    Location:63710
    PccA; Acetyl/propionyl-CoA carboxylase, alpha subunit [Lipid transport and metabolism]
  5. NM_001352606.1NP_001339535.1  propionyl-CoA carboxylase alpha chain, mitochondrial isoform e precursor

    Status: REVIEWED

    Source sequence(s)
    AL136526, AL353697, AL355338, AL356575
    Related
    ENSP00000489974.1, ENST00000637657.1
    Conserved Domains (1) summary
    cl27361
    Location:63680
    Biotin_carb_C; Biotin carboxylase C-terminal domain
  6. NM_001352607.1NP_001339536.1  propionyl-CoA carboxylase alpha chain, mitochondrial isoform f

    Status: REVIEWED

    Source sequence(s)
    AL136526, AL353697, AL355338, AL356575
    Conserved Domains (1) summary
    cl27361
    Location:37655
    Biotin_carb_C; Biotin carboxylase C-terminal domain
  7. NM_001352608.1NP_001339537.1  propionyl-CoA carboxylase alpha chain, mitochondrial isoform g

    Status: REVIEWED

    Source sequence(s)
    AL136526, AL353697, AL355338, AL356575
    Conserved Domains (1) summary
    cl27361
    Location:37654
    Biotin_carb_C; Biotin carboxylase C-terminal domain
  8. NM_001352609.1NP_001339538.1  propionyl-CoA carboxylase alpha chain, mitochondrial isoform h precursor

    Status: REVIEWED

    Source sequence(s)
    AL136526, AL353697, AL355338, AL356575
    Conserved Domains (1) summary
    cl27361
    Location:63592
    Biotin_carb_C; Biotin carboxylase C-terminal domain
  9. NM_001352610.1NP_001339539.1  propionyl-CoA carboxylase alpha chain, mitochondrial isoform i

    Status: REVIEWED

    Source sequence(s)
    AL136526, AL353697, AL355338, AL356575
    Conserved Domains (1) summary
    cl27361
    Location:1413
    Biotin_carb_C; Biotin carboxylase C-terminal domain
  10. NM_001352611.1NP_001339540.1  propionyl-CoA carboxylase alpha chain, mitochondrial isoform j

    Status: REVIEWED

    Source sequence(s)
    AL136526, AL353697, AL355338, AL356575
    Conserved Domains (1) summary
    cl27361
    Location:1395
    Biotin_carb_C; Biotin carboxylase C-terminal domain
  11. NM_001352612.1NP_001339541.1  propionyl-CoA carboxylase alpha chain, mitochondrial isoform k

    Status: REVIEWED

    Source sequence(s)
    AL136526, AL353697, AL355338, AL356575
    Conserved Domains (1) summary
    cl27361
    Location:1365
    Biotin_carb_C; Biotin carboxylase C-terminal domain

RNA

  1. NR_148027.1 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    AL136526, AL353697, AL355338, AL356575
  2. NR_148028.1 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    AL136526, AL353697, AL355338, AL356575
  3. NR_148029.1 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    AL136526, AL353697, AL355338, AL356575
  4. NR_148030.1 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    AL136526, AL353697, AL355338, AL356575
  5. NR_148031.1 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    AL136526, AL353697, AL355338, AL356575

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_000013.11 Reference GRCh38.p12 Primary Assembly

    Range
    100089015..100530437
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017020613.1XP_016876102.1  propionyl-CoA carboxylase alpha chain, mitochondrial isoform X8

  2. XM_017020612.1XP_016876101.1  propionyl-CoA carboxylase alpha chain, mitochondrial isoform X7

  3. XM_017020611.1XP_016876100.1  propionyl-CoA carboxylase alpha chain, mitochondrial isoform X6

  4. XM_011521093.1XP_011519395.1  propionyl-CoA carboxylase alpha chain, mitochondrial isoform X4

    Conserved Domains (4) summary
    smart00878
    Location:397504
    Biotin_carb_C; Biotin carboxylase C-terminal domain
    PRK08591
    Location:62504
    PRK08591; acetyl-CoA carboxylase biotin carboxylase subunit; Validated
    pfam00289
    Location:63171
    CPSase_L_chain; Carbamoyl-phosphate synthase L chain, N-terminal domain
    pfam02786
    Location:176383
    CPSase_L_D2; Carbamoyl-phosphate synthase L chain, ATP binding domain
  5. XM_017020605.1XP_016876094.1  propionyl-CoA carboxylase alpha chain, mitochondrial isoform X1

  6. XM_017020615.1XP_016876104.1  propionyl-CoA carboxylase alpha chain, mitochondrial isoform X9

  7. XM_017020616.1XP_016876105.1  propionyl-CoA carboxylase alpha chain, mitochondrial isoform X10

  8. XM_017020606.1XP_016876095.1  propionyl-CoA carboxylase alpha chain, mitochondrial isoform X2

  9. XM_017020609.1XP_016876098.1  propionyl-CoA carboxylase alpha chain, mitochondrial isoform X5

    Conserved Domains (5) summary
    cd06850
    Location:628694
    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:364471
    Biotin_carb_C; Biotin carboxylase C-terminal domain
    COG4770
    Location:30695
    PccA; Acetyl/propionyl-CoA carboxylase, alpha subunit [Lipid transport and metabolism]
    pfam00289
    Location:30138
    CPSase_L_chain; Carbamoyl-phosphate synthase L chain, N-terminal domain
    pfam02786
    Location:143350
    CPSase_L_D2; Carbamoyl-phosphate synthase L chain, ATP binding domain
  10. XM_017020607.1XP_016876096.1  propionyl-CoA carboxylase alpha chain, mitochondrial isoform X3

RNA

  1. XR_001749568.1 RNA Sequence

  2. XR_001749569.1 RNA Sequence

  3. XR_001749567.1 RNA Sequence

  4. XR_931615.1 RNA Sequence

  5. XR_001749576.1 RNA Sequence

    Related
    ENST00000647303.1
  6. XR_001749577.1 RNA Sequence

  7. XR_001749574.1 RNA Sequence

Support Center