Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
26007
Gene name Gene Name - the full gene name approved by the HGNC.
Triokinase and FMN cyclase
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
TKFC
Synonyms (NCBI Gene) Gene synonyms aliases
DAK, NET45, TKFCD
Disease Acronyms (UniProt) Disease acronyms from UniProt database
TKFCD
Chromosome Chromosome number
11
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
11q12.2
Summary Summary of gene provided in NCBI Entrez Gene.
This gene is a member of the family of dihydroxyacetone kinases, which have a protein structure distinct from other kinases. The product of this gene phosphorylates dihydroxyacetone, and also catalyzes the formation of riboflavin 4`,5`-phosphate (aka cycl
SNPs SNP information provided by dbSNP.
SNP ID Visualize variation Clinical significance Consequence
rs547013163 G>T Pathogenic Missense variant, intron variant, coding sequence variant, 3 prime UTR variant
rs1590578831 G>A Pathogenic Coding sequence variant, missense variant
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT740987 hsa-miR-106a-5p HITS-CLIP 23313552
MIRT740988 hsa-miR-106b-5p HITS-CLIP 23313552
MIRT740989 hsa-miR-17-5p HITS-CLIP 23313552
MIRT740990 hsa-miR-20a-5p HITS-CLIP 23313552
MIRT740991 hsa-miR-20b-5p HITS-CLIP 23313552
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0004371 Function Glycerone kinase activity IBA 21873635
GO:0004371 Function Glycerone kinase activity IDA 4688871, 16289032, 32004446
GO:0005515 Function Protein binding IPI 17600090, 25416956
GO:0005524 Function ATP binding IEA
GO:0005634 Component Nucleus HDA 21630459
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
615844 24552 ENSG00000149476
Protein
UniProt ID Q3LXA3
Protein name Triokinase/FMN cyclase (Bifunctional ATP-dependent dihydroxyacetone kinase/FAD-AMP lyase (cyclizing)) [Includes: ATP-dependent dihydroxyacetone kinase (DHA kinase) (EC 2.7.1.28) (EC 2.7.1.29) (Glycerone kinase) (Triokinase) (Triose kinase); FAD-AMP lyase
Protein 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:1760009
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF02733 Dak1 19 335 Dak1 domain Family
PF02734 Dak2 398 571 DAK2 domain Family
Tissue specificity TISSUE SPECIFICITY: Detected in erythrocytes (at protein level). {ECO:0000269|PubMed:4688871}.
Sequence
Sequence length 575
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG   Reactome
  Fructose and mannose metabolism
Glycerolipid metabolism
Metabolic pathways
Carbon metabolism
RIG-I-like receptor signaling pathway
  DDX58/IFIH1-mediated induction of interferon-alpha/beta
Fructose catabolism
Associated diseases Disease information provided by ClinVar, GenCC, and GWAS databases.
Causal
Disease term Disease name dbSNP ID References
Cataract Cataract rs118203965, rs118203966, rs104893685, rs121908938, rs104894175, rs121909048, rs28937573, rs121909049, rs121909050, rs74315488, rs80358200, rs80358203, rs121434643, rs56141211, rs132630322
View all (150 more)
32004446
Developmental delay Global developmental delay rs28941770, rs199469464, rs281865469, rs143747297, rs398123009, rs587777428, rs786205133, rs606231459, rs797044854, rs797045027, rs864309504, rs878853160, rs886039902, rs886042046, rs886041291
View all (32 more)
32004446
Unknown
Disease term Disease name Evidence References Source
Sengers syndrome Sengers syndrome GenCC
Associations from Text Mining
Disease Name Relationship Type References
Albinism Oculocutaneous Associate 39251934
Cardiomyopathy Hypertrophic Associate 39251934
Disease Associate 39251934
Immunologic Deficiency Syndromes Associate 39251934
Multiple System Atrophy Associate 39251934
Musculoskeletal Abnormalities Associate 39251934