PCK2
entrez
5106
canonical
uniprot
Q16822
canonical
ensembl
ENSG00000100889
resolver
ensembl
ENSG00000285241
resolver
ensp
ENSP00000216780
resolver
ensp
ENSP00000380171
resolver
ensp
ENSP00000441826
resolver
ensp
ENSP00000454011
resolver
ensp
ENSP00000667627
resolver
genesymbol
PCK2
resolver
genesymbol_syn
PEPCK2
resolver
hgnc
HGNC:8725
resolver
uniprot
A0A384MTT2
resolver
uniprot
B4DW73
resolver
uniprot
O43253
resolver
uniprot
Q86U01
resolver
uniprot
Q9BV62
resolver
uniprot_entry
A0A384MTT2_HUMAN
resolver
uniprot_entry
PCKGM_HUMAN
resolver
uniprot_sec
B4DW73
resolver
uniprot_sec
O43253
resolver
uniprot_sec
Q86U01
resolver
uniprot_sec
Q9BV62
resolver
amino_acid_sequence
MAALYRPGLRLNWHGLSPLGWPSCRSIQTLRVLSGDLGQLPTGIRDFVEHSARLCQPEGIHICDGTEAENTATLTLLEQQGLIRKLPKYNNCWLARTDPKDVARVESKTVIVTPSQRDTVPLPPGGARGQLGNWMSPADFQRAVDERFPGCMQGRTMYVLPFSMGPVGSPLSRIGVQLTDSAYVVASMRIMTRLGTPVLQALGDGDFVKCLHSVGQPLTGQGEPVSQWPCNPEKTLIGHVPDQREIISFGSGYGGNSLLGKKCFALRIASRLARDEGWLAEHMLILGITSPAGKKRYVAAAFPSACGKTNLAMMRPALPGWKVECVGDDIAWMRFDSEGRLRAINPENGFFGVAPGTSATTNPNAMATIQSNTIFTNVAETSDGGVYWEGIDQPLPPGVTVTSWLGKPWKPGDKEPCAHPNSRFCAPARQCPIMDPAWEAPEGVPIDAIIFGGRRPKGVPLVYEAFNWRHGVFVGSAMRSESTAAAEHKGKIIMHDPFAMRPFFGYNFGHYLEHWLSMEGRKGAQLPRIFHVNWFRRDEAGHFLWPGFGENARVLDWICRRLEGEDSARETPIGLVPKEGALDLSGLRAIDTTQLFSLPKDFWEQEVRDIRSYLTEQVNQDLPKEVLAELEALERRVHKM
uniprot
proteins
disease_involvement
DISEASE: Mitochondrial phosphoenolpyruvate carboxykinase deficiency (M-PEPCKD) [MIM:261650]: Metabolic disorder resulting from impaired gluconeogenesis. It is a rare disease with less than 10 cases reported in the literature. Clinical characteristics include hypotonia, hepatomegaly, failure to thrive, lactic acidosis and hypoglycemia. Autopsy reveals fatty infiltration of both the liver and kidneys. The disorder is transmitted as an autosomal recessive trait. Note=The gene represented in this entry may be involved in disease pathogenesis.
uniprot
proteins
ec_number
2.7.11.-
uniprot
proteins
ec_number
4.1.1.32
uniprot
proteins
function
FUNCTION: Mitochondrial phosphoenolpyruvate carboxykinase that catalyzes the conversion of oxaloacetate (OAA) to phosphoenolpyruvate (PEP), the rate-limiting step in the metabolic pathway that produces glucose from lactate and other precursors derived from the citric acid cycle (PubMed:28955899). Can play an active role in glyceroneogenesis and gluconeogenesis (PubMed:28955899). In lipogenic cells such as adipocytes, it generates PEP via the mitochondrial pyruvate-to-PEP bypass, driving the PEP flux required for cytosolic glycerol 3-phosphate and triglyceride synthesis (By similarity). Also acts as a serine/threonine-protein kinase: phosphorylates and activates ACSL4, thereby promoting ferroptosis (PubMed:38720107). {ECO:0000250|UniProtKB:Q8BH04, ECO:0000269|PubMed:28955899, ECO:0000269|PubMed:38720107}.
uniprot
proteins
mass_dalton
70699
uniprot
proteins
pathway_participation
PATHWAY: Carbohydrate biosynthesis; gluconeogenesis. {ECO:0000305|PubMed:28955899}.; PATHWAY: Glycerolipid metabolism; triacylglycerol biosynthesis. {ECO:0000250|UniProtKB:Q8BH04}.
uniprot
proteins
protein_family
Phosphoenolpyruvate carboxykinase [GTP] family
uniprot
proteins
pubmed
12508121
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
24275569
uniprot
proteins
pubmed
25944712
uniprot
proteins
pubmed
28955899
uniprot
proteins
pubmed
36845668
uniprot
proteins
pubmed
38720107
uniprot
proteins
pubmed
8645161
uniprot
proteins
pubmed
9657976
uniprot
proteins
sequence_length
640
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Mitochondrion {ECO:0000269|PubMed:38720107, ECO:0000269|PubMed:8645161}.
uniprot
proteins