TKFC
entrez
26007
canonical
uniprot
Q3LXA3
canonical
ensembl
ENSG00000149476
resolver
ensp
ENSP00000378360
resolver
ensp
ENSP00000531245
resolver
ensp
ENSP00000590792
resolver
ensp
ENSP00000751197
resolver
ensp
ENSP00000791173
resolver
ensp
ENSP00000792022
resolver
ensp
ENSP00000792023
resolver
genesymbol
TKFC
resolver
genesymbol_syn
DAK
resolver
hgnc
HGNC:24552
resolver
uniprot
A0A140VJH7
resolver
uniprot
Q2L9C1
resolver
uniprot
Q53EQ9
resolver
uniprot
Q9BVA7
resolver
uniprot
Q9H895
resolver
uniprot_entry
A0A140VJH7_HUMAN
resolver
uniprot_entry
TKFC_HUMAN
resolver
uniprot_sec
Q2L9C1
resolver
uniprot_sec
Q53EQ9
resolver
uniprot_sec
Q9BVA7
resolver
uniprot_sec
Q9H895
resolver
activity_regulation
ACTIVITY REGULATION: Each activity is inhibited by the substrate(s) of the other.
uniprot
proteins
amino_acid_sequence
MTSKKLVNSVAGCADDALAGLVACNPNLQLLQGHRVALRSDLDSLKGRVALLSGGGSGHEPAHAGFIGKGMLTGVIAGAVFTSPAVGSILAAIRAVAQAGTVGTLLIVKNYTGDRLNFGLAREQARAEGIPVEMVVIGDDSAFTVLKKAGRRGLCGTVLIHKVAGALAEAGVGLEEIAKQVNVVAKAMGTLGVSLSSCSVPGSKPTFELSADEVELGLGIHGEAGVRRIKMATADEIVKLMLDHMTNTTNASHVPVQPGSSVVMMVNNLGGLSFLELGIIADATVRSLEGRGVKIARALVGTFMSALEMPGISLTLLLVDEPLLKLIDAETTAAAWPNVAAVSITGRKRSRVAPAEPQEAPDSTAAGGSASKRMALVLERVCSTLLGLEEHLNALDRAAGDGDCGTTHSRAARAIQEWLKEGPPPASPAQLLSKLSVLLLEKMGGSSGALYGLFLTAAAQPLKAKTSLPAWSAAMDAGLEAMQKYGKAAPGDRTMLDSLWAAGQELQAWKSPGADLLQVLTKAVKSAEAAAEATKNMEAGAGRASYISSARLEQPDPGAVAAAAILRAILEVLQS
uniprot
proteins
disease_involvement
DISEASE: Triokinase and FMN cyclase deficiency syndrome (TKFCD) [MIM:618805]: An autosomal recessive disease characterized by cataracts and developmental delay that may be associated with cerebellar hypoplasia. Additional features may include liver dysfunction, microcytic anemia, and fatal cardiomyopathy with lactic acidosis following a febrile illness. {ECO:0000269|PubMed:32004446}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
ec_number
2.7.1.28
uniprot
proteins
ec_number
2.7.1.29
uniprot
proteins
ec_number
4.6.1.15
uniprot
proteins
function
FUNCTION: Catalyzes both the phosphorylation of dihydroxyacetone and of glyceraldehyde, and the splitting of ribonucleoside diphosphate-X compounds among which FAD is the best substrate. Represses IFIH1-mediated cellular antiviral response (PubMed:17600090). {ECO:0000250|UniProtKB:F1RKQ4, ECO:0000250|UniProtKB:Q4KLZ6, ECO:0000269|PubMed:16289032, ECO:0000269|PubMed:17600090, ECO:0000269|PubMed:32004446, ECO:0000269|PubMed:4688871}.
uniprot
proteins
mass_dalton
58947
uniprot
proteins
mutagenesis
MUTAGEN 112; /note="T->A: Highly decreases kinase activity. No effect on FMN cyclase activity."; /evidence="ECO:0000269|PubMed:24569995"; MUTAGEN 204; /note="K->A: Slightly decreases kinase activity. No effect on FMN cyclase activity."; /evidence="ECO:0000269|PubMed:24569995"; MUTAGEN 221; /note="H->A: Abolishes kinase activity but not FMN cyclase activity."; /evidence="ECO:0000269|PubMed:24569995"; MUTAGEN 401; /note="D->A: Abolishes both kinase and FMN cyclase activities."; /evidence="ECO:0000269|PubMed:24569995"; MUTAGEN 403; /note="D->A: Abolishes both kinase and FMN cyclase activities."; /evidence="ECO:0000269|PubMed:24569995"; MUTAGEN 404; /note="C->A: Decreases both kinase and FMN cyclase activities."; /evidence="ECO:0000269|PubMed:24569995"; MUTAGEN 446; /note="S->A: Decreases both kinase and FMN cyclase activities."; /evidence="ECO:0000269|PubMed:24569995"; MUTAGEN 556; /note="D->A: Abolishes both kinase and FMN cyclase activities."; /evidence="ECO:0000269|PubMed:24569995
uniprot
proteins
protein_family
Dihydroxyacetone kinase (DAK) family
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16289032
uniprot
proteins
pubmed
16554811
uniprot
proteins
pubmed
17600090
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
24275569
uniprot
proteins
pubmed
24569995
uniprot
proteins
pubmed
32004446
uniprot
proteins
pubmed
4688871
uniprot
proteins
sequence_length
575
uniprot
proteins