Human Gene PCCA (uc001voo.3)
Description: Homo sapiens propionyl CoA carboxylase, alpha polypeptide (PCCA), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.
RefSeq Summary (NM_000282): 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].
Transcript (Including UTRs)
Position: hg19 chr13:100,741,269-101,182,691 Size: 441,423 Total Exon Count: 24 Strand: +
Coding Region
Position: hg19 chr13:100,741,375-101,182,420 Size: 441,046 Coding Exon Count: 24
Data last updated at UCSC: 2013-06-14
Sequence and Links to Tools and Databases
Comments and Description Text from UniProtKB
ID: PCCA_HUMAN
DESCRIPTION: RecName: Full=Propionyl-CoA carboxylase alpha chain, mitochondrial; Short=PCCase subunit alpha; EC=6.4.1.3; AltName: Full=Propanoyl-CoA:carbon dioxide ligase subunit alpha; Flags: Precursor;
CATALYTIC ACTIVITY: ATP + propanoyl-CoA + HCO(3)(-) = ADP + phosphate + (S)-methylmalonyl-CoA.COFACTOR: Biotin.PATHWAY: Metabolic intermediate metabolism; propanoyl-CoA degradation; succinyl-CoA from propanoyl-CoA: step 1/3.SUBUNIT: Probably a dodecamer composed of six biotin-containing alpha subunits and six beta subunits.SUBCELLULAR LOCATION: Mitochondrion matrix.DISEASE: Defects in PCCA are the cause of propionic acidemia type I (PA-1) [MIM:606054] . PA-1 is a life-threatening disease characterized by episodic vomiting, lethargy and ketosis, neutropenia, periodic thrombocytopenia, hypogammaglobulinemia, developmental retardation, and intolerance to protein.SIMILARITY: Contains 1 ATP-grasp domain.SIMILARITY: Contains 1 biotin carboxylation domain.SIMILARITY: Contains 1 biotinyl-binding domain.SEQUENCE CAUTION: Sequence=AAA60035.1; Type=Frameshift; Positions=374, 378, 380, 395; Sequence=AAH00140.1; Type=Erroneous initiation; Note=Translation N-terminally extended; Sequence=AAK61392.1; Type=Erroneous initiation; Note=Translation N-terminally extended; Sequence=CAA32763.1; Type=Frameshift; Positions=23;WEB RESOURCE: Name=GeneReviews; URL="http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/PCCA";
Primer design for this transcript
Genetic Association Studies of Complex Diseases and Disorders
MalaCards Disease Associations
Comparative Toxicogenomics Database (CTD)
Common Gene Haplotype Alleles
Press "+" in the title bar above to open this section.
RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
Microarray Expression Data
Press "+" in the title bar above to open this section.
mRNA Secondary Structure of 3' and 5' UTRs
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
Protein Domain and Structure Information
InterPro Domains: Graphical view of domain structure IPR011761 - ATP-grasp
IPR013816 - ATP_grasp_subdomain_2
IPR001882 - Biotin_BS
IPR011764 - Biotin_carboxylation_dom
IPR005482 - Biotin_COase_C
IPR000089 - Biotin_lipoyl
IPR005481 - CarbamoylP_synth_lsu_N
IPR005479 - CbamoylP_synth_lsu-like_ATP-bd
IPR016185 - PreATP-grasp_fold
IPR011054 - Rudment_hybrid_motif
IPR011053 - Single_hybrid_motif
Pfam Domains: PF00289 - Biotin carboxylase, N-terminal domain
PF00364 - Biotin-requiring enzyme
PF02222 - ATP-grasp domain
PF02785 - Biotin carboxylase C-terminal domain
PF02786 - Carbamoyl-phosphate synthase L chain, ATP binding domain
PF07478 - D-ala D-ala ligase C-terminus
PF08443 - RimK-like ATP-grasp domain
SCOP Domains: 51230 - Single hybrid motif
51246 - Rudiment single hybrid motif
52440 - PreATP-grasp domain
56059 - Glutathione synthetase ATP-binding domain-like
Protein Data Bank (PDB) 3-D Structure
ModBase Predicted Comparative 3D Structure on P05165
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.
Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
Gene Ontology (GO) Annotations with Structured Vocabulary
Descriptions from all associated GenBank mRNAs
AF385926 - Homo sapiens propionyl-CoA carboxylase alpha subunit (PCCA) mRNA, complete cds; nuclear gene for mitochondrial product.AK298318 - Homo sapiens cDNA FLJ56469 complete cds, highly similar to Propionyl-CoA carboxylase alpha chain, mitochondrial precursor (EC 6.4.1.3).AK225288 - Homo sapiens mRNA for propionyl-Coenzyme A carboxylase, alpha polypeptide precursor variant, clone: HEP01581.AK315503 - Homo sapiens cDNA, FLJ96567, highly similar to Homo sapiens propionyl Coenzyme A carboxylase, alpha polypeptide(PCCA), mRNA.AK225299 - Homo sapiens mRNA for propionyl-Coenzyme A carboxylase, alpha polypeptide precursor variant, clone: HEP01941.AK296771 - Homo sapiens cDNA FLJ59564 complete cds, highly similar to Propionyl-CoA carboxylase alpha chain, mitochondrial precursor (EC 6.4.1.3).BC000140 - Homo sapiens propionyl Coenzyme A carboxylase, alpha polypeptide, mRNA (cDNA clone MGC:5056 IMAGE:3048998), complete cds.X14608 - Human mRNA for propionyl-CoA carboxylase alpha-chain (EC 6.4.1.3).KJ901624 - Synthetic construct Homo sapiens clone ccsbBroadEn_11018 PCCA gene, encodes complete protein.KR709426 - Synthetic construct Homo sapiens clone CCSBHm_00002077 PCCA (PCCA) mRNA, encodes complete protein.KR709427 - Synthetic construct Homo sapiens clone CCSBHm_00002087 PCCA (PCCA) mRNA, encodes complete protein.KR709428 - Synthetic construct Homo sapiens clone CCSBHm_00002094 PCCA (PCCA) mRNA, encodes complete protein.KR709429 - Synthetic construct Homo sapiens clone CCSBHm_00002102 PCCA (PCCA) mRNA, encodes complete protein.S79219 - metastasis-associated gene [human, highly metastatic lung cell subline Anip[937], mRNA Partial, 978 nt].DQ583220 - Homo sapiens piRNA piR-50332, complete sequence.AK055982 - Homo sapiens cDNA FLJ31420 fis, clone NT2NE2000369, moderately similar to PROPIONYL-COA CARBOXYLASE ALPHA CHAIN PRECURSOR (EC 6.4.1.3).Z36837 - H.sapiens (xs79) mRNA, 413bp.S55656 - pccA=propionyl CoA carboxylase alpha subunit [human, liver, mRNA Partial, 89 nt].M13572 - Human propionyl-CoA carboxylase alpha chain mRNA.AL122056 - Homo sapiens mRNA; cDNA DKFZp434P088 (from clone DKFZp434P088).M26121 - Human propionyl-CoA carboxylase (PCC) mRNA, 3' end.JD207996 - Sequence 189020 from Patent EP1572962.JD143111 - Sequence 124135 from Patent EP1572962.JD553493 - Sequence 534517 from Patent EP1572962.
Biochemical and Signaling Pathways
Other Names for This Gene
Alternate Gene Symbols: B4DKY8, B4DPF9, C9JPQ8, NM_000282, NP_000273, P05165, PCCA_HUMAN, Q15979, Q8WXQ7UCSC ID: uc001voo.3RefSeq Accession: NM_000282
Protein: P05165
(aka PCCA_HUMAN)
CCDS: CCDS9496.2 , CCDS45065.1
GeneReviews for This Gene
GeneReviews article(s) related to gene PCCA:propionic-a (Propionic Acidemia)
Gene Model Information
category:
coding
nonsense-mediated-decay:
no
RNA accession:
NM_000282.3
exon count:
24 CDS single in 3' UTR:
no
RNA size:
2577
ORF size:
2187 CDS single in intron:
no
Alignment % ID:
100.00
txCdsPredict score:
4574.00 frame shift in genome:
no
% Coverage:
99.50
has start codon:
yes
stop codon in genome:
no
# of Alignments:
1
has end codon:
yes
retained intron:
no
# AT/AC introns
0
selenocysteine:
no
end bleed into intron:
0 # strange splices:
0
Click here
for a detailed description of the fields of the table above.
Methods, Credits, and Use Restrictions
Click here
for details on how this gene model was made and data restrictions if any.