Pyruvate carboxylase (PC) Associated conditions: 1. Pyruvate carboxylase deficiency
| SNo. | Status | mRNA accession | Protein accession | Genomic DNA accession (Chromosome) | mRNA location on genomic DNA | Assembly | UniProtkb ID |
| 1 | REVIEWED | NM_000920.4 | NP_000911.2 | NC_000011.10 | (66848419..66958382, complement) | Reference GRCh38.p14 Primary Assembly | - |
| 2 | REVIEWED | NM_001040716.2 | NP_001035806.1 | NC_000011.10 | (66848419..66958382, complement) | Reference GRCh38.p14 Primary Assembly | - |
| 3 | REVIEWED | NM_001439352.1 | NP_001426281.1 | NC_000011.10 | (66848419..66958382, complement) | Reference GRCh38.p14 Primary Assembly | - |
| 4 | REVIEWED | NM_001439353.1 | NP_001426282.1 | NC_000011.10 | (66848419..66958382, complement) | Reference GRCh38.p14 Primary Assembly | - |
| 5 | REVIEWED | NM_001439355.1 | NP_001426284.1 | NC_000011.10 | (66848419..66958382, complement) | Reference GRCh38.p14 Primary Assembly | - |
| 6 | REVIEWED | NM_001439357.1 | NP_001426286.1 | NC_000011.10 | (66848419..66958382, complement) | Reference GRCh38.p14 Primary Assembly | - |
| 7 | REVIEWED | NM_001439358.1 | NP_001426287.1 | NC_000011.10 | (66848419..66958382, complement) | Reference GRCh38.p14 Primary Assembly | - |
| 8 | REVIEWED | NM_001439359.1 | NP_001426288.1 | NC_000011.10 | (66848419..66958382, complement) | Reference GRCh38.p14 Primary Assembly | - |
| 9 | REVIEWED | NM_022172.3 | NP_071504.2 | NC_000011.10 | (66848419..66958382, complement) | 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 Pyruvate carboxylase (PC) Mutation Visualization Dashboard: Pathogenic variant distribution chart
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 | IEA | enables | catalytic activity | Function | - |
| 3 | Homo sapiens | EXP | enables | pyruvate carboxylase activity | Function | 12437512 |
| 4 | Homo sapiens | IBA | enables | pyruvate carboxylase activity | Function | - |
| 5 | Homo sapiens | IEA | enables | pyruvate carboxylase activity | Function | - |
| 6 | Homo sapiens | IMP | enables | pyruvate carboxylase activity | Function | 9585002 |
| 7 | Homo sapiens | TAS | enables | pyruvate carboxylase activity | Function | 7918683 |
| 8 | Homo sapiens | IPI | enables | protein binding | Function | 23861867 34547241 |
| 9 | Homo sapiens | IEA | enables | ATP binding | Function | - |
| 10 | Homo sapiens | TAS | enables | ATP binding | Function | 8048912 |
| 11 | Homo sapiens | IDA | located_in | cytoplasm | Component | 23861867 34547241 |
| 12 | Homo sapiens | HTP | located_in | mitochondrion | Component | 34800366 |
| 13 | Homo sapiens | IBA | is_active_in | mitochondrion | Component | - |
| 14 | Homo sapiens | IDA | located_in | mitochondrion | Component | 16729965 |
| 15 | Homo sapiens | IEA | located_in | mitochondrial matrix | Component | - |
| 16 | Homo sapiens | TAS | located_in | mitochondrial matrix | Component | - |
| 17 | Homo sapiens | IEA | located_in | cytosol | Component | - |
| 18 | Homo sapiens | TAS | located_in | cytosol | Component | - |
| 19 | Homo sapiens | IBA | involved_in | gluconeogenesis | Process | - |
| 20 | Homo sapiens | IEA | involved_in | gluconeogenesis | Process | - |
| 21 | Homo sapiens | TAS | involved_in | gluconeogenesis | Process | - |
| 22 | Homo sapiens | IEA | involved_in | lipid metabolic process | Process | - |
| 23 | Homo sapiens | IDA | involved_in | NADP+ metabolic process | Process | 34547241 |
| 24 | Homo sapiens | IEA | enables | biotin binding | Function | - |
| 25 | Homo sapiens | TAS | enables | biotin binding | Function | 8048912 |
| 26 | Homo sapiens | IMP | involved_in | negative regulation of gene expression | Process | 23861867 |
| 27 | Homo sapiens | IEA | enables | ligase activity | Function | - |
| 28 | Homo sapiens | IMP | involved_in | viral RNA genome packaging | Process | 23861867 |
| 29 | Homo sapiens | IMP | involved_in | viral release from host cell | Process | 23861867 |
| 30 | Homo sapiens | IDA | involved_in | NAD+ metabolic process | Process | 34547241 |
| 31 | Homo sapiens | IPI | enables | identical protein binding | Function | 18297087 34547241 |
| 32 | Homo sapiens | IEA | involved_in | small molecule metabolic process | Process | - |
| 33 | Homo sapiens | IMP | involved_in | host-mediated activation of viral process | Process | 23861867 |
| 34 | Homo sapiens | IEA | enables | metal ion binding | Function | - |