GLYCTK
entrez
132158
canonical
uniprot
Q8IVS8
canonical
ensembl
ENSG00000168237
resolver
ensp
ENSP00000389175
resolver
ensp
ENSP00000417526
resolver
ensp
ENSP00000419008
resolver
ensp
ENSP00000533575
resolver
ensp
ENSP00000652269
resolver
enst
ENST00000471180
resolver
genesymbol
GLYCTK
resolver
genesymbol_syn
HBEBP4
resolver
hgnc
HGNC:24247
resolver
uniprot
C9JA32
resolver
uniprot
Q0P630
resolver
uniprot
Q2EZ43
resolver
uniprot
Q6Y2K6
resolver
uniprot
Q7Z6G5
resolver
uniprot
Q86YR8
resolver
uniprot
Q8TED2
resolver
uniprot
Q8WTY2
resolver
uniprot_entry
C9JA32_HUMAN
resolver
uniprot_entry
GLCTK_HUMAN
resolver
uniprot_sec
Q0P630
resolver
uniprot_sec
Q2EZ43
resolver
uniprot_sec
Q6Y2K6
resolver
uniprot_sec
Q7Z6G5
resolver
uniprot_sec
Q86YR8
resolver
uniprot_sec
Q8TED2
resolver
uniprot_sec
Q8WTY2
resolver
amino_acid_sequence
MAAALQVLPRLARAPLHPLLWRGSVARLASSMALAEQARQLFESAVGAVLPGPMLHRALSLDPGGRQLKVRDRNFQLRQNLYLVGFGKAVLGMAAAAEELLGQHLVQGVISVPKGIRAAMERAGKQEMLLKPHSRVQVFEGAEDNLPDRDALRAALAIQQLAEGLTADDLLLVLISGGGSALLPAPIPPVTLEEKQTLTRLLAARGATIQELNTIRKALSQLKGGGLAQAAYPAQVVSLILSDVVGDPVEVIASGPTVASSHNVQDCLHILNRYGLRAALPRSVKTVLSRADSDPHGPHTCGHVLNVIIGSNVLALAEAQRQAEALGYQAVVLSAAMQGDVKSMAQFYGLLAHVARTRLTPSMAGASVEEDAQLHELAAELQIPDLQLEEALETMAWGRGPVCLLAGGEPTVQLQGSGRGGRNQELALRVGAELRRWPLGPIDVLFLSGGTDGQDGPTEAAGAWVTPELASQAAAEGLDIATFLAHNDSHTFFCCLQGGAHLLHTGMTGTNVMDTHLLFLRPR
uniprot
proteins
disease_involvement
DISEASE: D-glyceric aciduria (D-GA) [MIM:220120]: A rare metabolic disease characterized by chronic metabolic acidosis and a highly variable clinical phenotype. Clinical features range from an encephalopathic presentation with seizures, microcephaly, severe intellectual disability and early death, to milder manifestations with only speech delay or even normal development. {ECO:0000269|PubMed:20949620, ECO:0000269|PubMed:28190537, ECO:0000269|PubMed:30637540, ECO:0000269|PubMed:31837836, ECO:0000269|PubMed:39619776}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
ec_number
2.7.1.31
uniprot
proteins
function
FUNCTION: Catalyzes the conversion of glycerate to phosphoglycerate (PubMed:20949620). This conversion is an intermediary reaction found in several metabolic pathways (Probable). {ECO:0000269|PubMed:20949620, ECO:0000305}.
uniprot
proteins
mass_dalton
55253
uniprot
proteins
protein_family
Glycerate kinase type-2 family
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
15498874
uniprot
proteins
pubmed
16753811
uniprot
proteins
pubmed
20949620
uniprot
proteins
pubmed
24275569
uniprot
proteins
pubmed
28190537
uniprot
proteins
pubmed
30637540
uniprot
proteins
pubmed
31837836
uniprot
proteins
pubmed
39619776
uniprot
proteins
pubmed
41330740
uniprot
proteins
sequence_length
523
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: [Isoform 1]: Mitochondrion matrix {ECO:0000269|PubMed:41330740}.
uniprot
proteins