Propionyl-CoA carboxylase subunit alpha (PCCA) Associated conditions: 1. Propionic acidemia
| SNo. | Status | mRNA accession | Protein accession | Genomic DNA accession (Chromosome) | mRNA location on genomic DNA | Assembly | UniProtkb ID |
| 1 | REVIEWED | NM_001352610.2 | NP_001339539.1 | NC_000013.11 | (100089092..100530434) | Reference GRCh38.p14 Primary Assembly | - |
| 2 | REVIEWED | XR_007063681.1 | - | NC_000013.11 | (100089092..100530434) | Reference GRCh38.p14 Primary Assembly | - |
| 3 | REVIEWED | NR_148031.2 | - | NC_000013.11 | (100089092..100530434) | Reference GRCh38.p14 Primary Assembly | - |
| 4 | REVIEWED | NR_148030.2 | - | NC_000013.11 | (100089092..100530434) | Reference GRCh38.p14 Primary Assembly | - |
| 5 | REVIEWED | NR_148029.2 | - | NC_000013.11 | (100089092..100530434) | Reference GRCh38.p14 Primary Assembly | - |
| 6 | REVIEWED | NR_148028.2 | - | NC_000013.11 | (100089092..100530434) | Reference GRCh38.p14 Primary Assembly | - |
| 7 | REVIEWED | NR_148027.2 | - | NC_000013.11 | (100089092..100530434) | Reference GRCh38.p14 Primary Assembly | - |
| 8 | REVIEWED | NM_001352612.2 | NP_001339541.1 | NC_000013.11 | (100089092..100530434) | Reference GRCh38.p14 Primary Assembly | - |
| 9 | REVIEWED | NM_001352611.2 | NP_001339540.1 | NC_000013.11 | (100089092..100530434) | Reference GRCh38.p14 Primary Assembly | - |
| 10 | REVIEWED | NM_000282.4 | NP_000273.2 | NC_000013.11 | (100089092..100530434) | Reference GRCh38.p14 Primary Assembly | - |
| 11 | REVIEWED | NM_001352609.2 | NP_001339538.1 | NC_000013.11 | (100089092..100530434) | Reference GRCh38.p14 Primary Assembly | - |
| 12 | REVIEWED | NM_001352608.2 | NP_001339537.1 | NC_000013.11 | (100089092..100530434) | Reference GRCh38.p14 Primary Assembly | - |
| 13 | REVIEWED | NM_001352607.2 | NP_001339536.1 | NC_000013.11 | (100089092..100530434) | Reference GRCh38.p14 Primary Assembly | - |
| 14 | REVIEWED | NM_001352606.2 | NP_001339535.1 | NC_000013.11 | (100089092..100530434) | Reference GRCh38.p14 Primary Assembly | - |
| 15 | REVIEWED | NM_001352605.2 | NP_001339534.1 | NC_000013.11 | (100089092..100530434) | Reference GRCh38.p14 Primary Assembly | - |
| 16 | REVIEWED | NM_001178004.2 | NP_001171475.1 | NC_000013.11 | (100089092..100530434) | Reference GRCh38.p14 Primary Assembly | - |
| 17 | REVIEWED | NM_001127692.3 | NP_001121164.1 | NC_000013.11 | (100089092..100530434) | Reference GRCh38.p14 Primary Assembly | - |
Transcript variants arise from alternative splicing during gene expression, producing multiple mRNA transcripts from a single gene, each encoding distinct protein isoforms.
Variant Information Propionyl-CoA carboxylase subunit alpha (PCCA) Mutation Visualization Dashboard: Pathogenic variant distribution chart
IndiGenomes variants: Exploring and mapping pathogenic variants in gene Propionyl-CoA carboxylase subunit alpha (PCCA)
ClinVar variants:Revealing mutagenic patterns
| SNo. | Reported in speceis | Evidence | Qualifier | GO term | Category | Pubmed Link |
| 1 | Homo sapiens | IEA | enables | nucleotide binding | Function | - |
| 2 | Homo sapiens | IBA | enables | propionyl-CoA carboxylase activity | Function | - |
| 3 | Homo sapiens | IDA | enables | propionyl-CoA carboxylase activity | Function | 6765947 |
| 4 | Homo sapiens | IEA | enables | propionyl-CoA carboxylase activity | Function | - |
| 5 | Homo sapiens | IMP | enables | propionyl-CoA carboxylase activity | Function | 8434582 |
| 6 | Homo sapiens | IPI | enables | protein binding | Function | 20725044 32296183 33961781 40205054 |
| 7 | Homo sapiens | IEA | enables | ATP binding | Function | - |
| 8 | Homo sapiens | HTP | located_in | mitochondrion | Component | 34800366 |
| 9 | Homo sapiens | IBA | is_active_in | mitochondrion | Component | - |
| 10 | Homo sapiens | IDA | located_in | mitochondrion | Component | - |
| 11 | Homo sapiens | IDA | located_in | mitochondrial matrix | Component | 16023992 |
| 12 | Homo sapiens | IEA | located_in | mitochondrial matrix | Component | - |
| 13 | Homo sapiens | NAS | located_in | mitochondrial matrix | Component | 29033250 |
| 14 | Homo sapiens | TAS | located_in | mitochondrial matrix | Component | - |
| 15 | Homo sapiens | TAS | located_in | cytosol | Component | - |
| 16 | Homo sapiens | IEA | involved_in | lipid metabolic process | Process | - |
| 17 | Homo sapiens | NAS | involved_in | fatty acid metabolic process | Process | 29033250 |
| 18 | Homo sapiens | NAS | involved_in | branched-chain amino acid metabolic process | Process | 29033250 |
| 19 | Homo sapiens | IEA | enables | biotin binding | Function | - |
| 20 | Homo sapiens | TAS | enables | biotin binding | Function | 3460076 |
| 21 | Homo sapiens | IEA | involved_in | lipid catabolic process | Process | - |
| 22 | Homo sapiens | IEA | enables | ligase activity | Function | - |
| 23 | Homo sapiens | IEA | enables | ligase activity, forming carbon-carbon bonds | Function | - |
| 24 | Homo sapiens | IC | involved_in | short-chain fatty acid catabolic process | Process | 6765947 8434582 |
| 25 | Homo sapiens | IPI | enables | enzyme binding | Function | 19157941 |
| 26 | Homo sapiens | IEA | enables | metal ion binding | Function | - |
| 27 | Homo sapiens | IDA | involved_in | succinyl-CoA biosynthetic process | Process | 8434582 |