GenTIGS

Pyruvate carboxylase (PC) Associated conditions: 1. Pyruvate carboxylase deficiency

mRNA Information: Transcript Variants and Protein Isoforms

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	P11498
2	REVIEWED	NM_001040716.2	NP_001035806.1	NC_000011.10	(66848419..66958382, complement)	Reference GRCh38.p14 Primary Assembly	P11498
3	REVIEWED	NM_022172.3	NP_071504.2	NC_000011.10	(66848419..66958382, complement)	Reference GRCh38.p14 Primary Assembly	P11498

Transcript variants arise from alternative splicing during gene expression, producing multiple mRNA transcripts from a single gene, each encoding distinct protein isoforms.

PubMed Links for Transcript Variants (Isoforms)

Link 1139 reference articles

Variant Information Pyruvate carboxylase (PC) Mutation Visualization Dashboard: Pathogenic variant distribution chart

ClinVar variants:Revealing mutagenic patterns

GO Term of Pyruvate carboxylase (PC)

SNo.	Reported in speceis	Evidence	Qualifier	GO term	Category	Pubmed Link
1	Homo sapiens	EXP	enables	pyruvate carboxylase activity	Function	12437512
2	Homo sapiens	IBA	enables	pyruvate carboxylase activity	Function	21873635
3	Homo sapiens	IMP	enables	pyruvate carboxylase activity	Function	9585002
4	Homo sapiens	IPI	enables	protein binding	Function	23861867 34547241
5	Homo sapiens	IEA	enables	ATP binding	Function	-
6	Homo sapiens	IBA	is_active_in	cytoplasm	Component	21873635
7	Homo sapiens	IDA	located_in	cytoplasm	Component	23861867 34547241
8	Homo sapiens	IDA	located_in	mitochondrion	Component	16729965
9	Homo sapiens	TAS	located_in	mitochondrial matrix	Component	-
10	Homo sapiens	TAS	located_in	cytosol	Component	-
11	Homo sapiens	IBA	involved_in	pyruvate metabolic process	Process	21873635
12	Homo sapiens	IBA	involved_in	gluconeogenesis	Process	21873635
13	Homo sapiens	IEA	involved_in	gluconeogenesis	Process	-
14	Homo sapiens	TAS	involved_in	gluconeogenesis	Process	-
15	Homo sapiens	IEA	involved_in	lipid metabolic process	Process	-
16	Homo sapiens	IDA	involved_in	NADH metabolic process	Process	34547241
17	Homo sapiens	IDA	involved_in	NADP metabolic process	Process	34547241
18	Homo sapiens	TAS	enables	biotin binding	Function	8048912
19	Homo sapiens	IMP	involved_in	negative regulation of gene expression	Process	23861867
20	Homo sapiens	IMP	involved_in	viral RNA genome packaging	Process	23861867
21	Homo sapiens	IMP	involved_in	viral release from host cell	Process	23861867
22	Homo sapiens	IPI	enables	identical protein binding	Function	18297087 34547241
23	Homo sapiens	IMP	involved_in	positive regulation by host of viral process	Process	23861867
24	Homo sapiens	IEA	enables	metal ion binding	Function	-