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

    Gene ID: 5095, updated on 8-Jul-2021

    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
    NEW
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    Genomic context

    See PCCA in Genome Data Viewer
    Location:
    13q32.3
    Exon count:
    32
    Annotation release Status Assembly Chr Location
    109.20210514 current GRCh38.p13 (GCF_000001405.39) 13 NC_000013.11 (100089020..100530435)
    105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 13 NC_000013.10 (100741347..101182689)

    Chromosome 13 - NC_000013.11Genomic Context describing neighboring genes Neighboring gene ASNS pseudogene 3 Neighboring gene PCCA divergent transcript Neighboring gene ribosomal protein L15 pseudogene 18 Neighboring gene uncharacterized LOC107984575 Neighboring gene uncharacterized LOC105370335 Neighboring gene Sharpr-MPRA regulatory region 12105 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 O-mannosyltransferase targeting cadherins 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

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    Associated conditions

    Description Tests
    Genome-wide meta-analyses of multiancestry cohorts identify multiple new susceptibility loci for refractive error and myopia.
    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

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables ATP binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables CoA carboxylase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    enables biotin binding TAS
    Traceable Author Statement
    more info
    PubMed 
    enables enzyme binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables metal ion binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables propionyl-CoA carboxylase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    enables propionyl-CoA carboxylase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables propionyl-CoA carboxylase activity IMP
    Inferred from Mutant Phenotype
    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
     
    is_active_in mitochondrion IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    located_in mitochondrion IDA
    Inferred from Direct Assay
    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)

    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_008768.1 RefSeqGene

      Range
      5011..446353
      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, ENST00000376285.6
      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_001127692.3NP_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, BC000140, 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_001178004.2NP_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, 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_001352605.2NP_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_001352606.2NP_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_001352607.2NP_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_001352608.2NP_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_001352609.2NP_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_001352610.2NP_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_001352611.2NP_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_001352612.2NP_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_148027.2 RNA Sequence

      Status: REVIEWED

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

      Status: REVIEWED

      Source sequence(s)
      AL136526, AL353697, AL355338, AL356575
    3. NR_148029.2 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AL136526, AL353697, AL355338, AL356575
    4. NR_148030.2 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AL136526, AL353697, AL355338, AL356575
    5. NR_148031.2 RNA Sequence

      Status: REVIEWED

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

    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_000013.11 Reference GRCh38.p13 Primary Assembly

      Range
      100089020..100530435
      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

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