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TKFC triokinase and FMN cyclase [ Homo sapiens (human) ]

Gene ID: 26007, updated on 10-Dec-2024

Summary

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Official Symbol
TKFCprovided by HGNC
Official Full Name
triokinase and FMN cyclaseprovided by HGNC
Primary source
HGNC:HGNC:24552
See related
Ensembl:ENSG00000149476 MIM:615844; AllianceGenome:HGNC:24552
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
DAK; NET45; TKFCD
Summary
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 cyclin FMN) from FAD. Several alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jun 2017]
Expression
Broad expression in duodenum (RPKM 30.4), small intestine (RPKM 22.4) and 23 other tissues See more
Orthologs
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Genomic context

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See TKFC in Genome Data Viewer
Location:
11q12.2
Exon count:
22
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 11 NC_000011.10 (61333228..61353426)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 11 NC_060935.1 (61322174..61342034)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (61100700..61120898)

Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr11:61033788-61034987 Neighboring gene von Willebrand factor C and EGF domains Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:61048939-61049860 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3387 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:61061839-61062541 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3389 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr11:61067594-61068793 Neighboring gene damage specific DNA binding protein 1 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:61100139-61100661 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:61100662-61101184 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:61112523-61113449 Neighboring gene cytochrome b561 family member A3 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4795 Neighboring gene H3K27ac hESC enhancer GRCh37_chr11:61129243-61129964 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4797 Neighboring gene transmembrane protein 138 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3391 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:61159824-61160785 Neighboring gene transmembrane protein 216

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: Tissue-specific circular RNA induction during human fetal development
  • Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
  • BioProject: PRJNA270632
  • Publication: PMID 26076956
  • Analysis date: Mon Apr 2 22:54:59 2018

Bibliography

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Related articles in PubMed

  1. A comprehensive update of the sequence and structure classification of kinases. Cheek S, et al. BMC Struct Biol, 2005 Mar 16. PMID 15771780, Free PMC Article
  2. Serum dihydroxyacetone kinase peptide m/z 520.3 as predictor of disease severity in patients with compensated chronic hepatitis B. Xu MY, et al. J Transl Med, 2013 Sep 27. PMID 24289155, Free PMC Article
  3. Alternative Splicing of the Last TKFC Intron Yields Transcripts Differentially Expressed in Human Tissues That Code In Vitro for a Protein Devoid of Triokinase and FMN Cyclase Activity. Costas MJ, et al. Biomolecules, 2024 Oct 12. PMID 39456221, Free PMC Article
  4. Bi-allelic Variants in TKFC Encoding Triokinase/FMN Cyclase Are Associated with Cataracts and Multisystem Disease. Wortmann SB, et al. Am J Hum Genet, 2020 Feb 6. PMID 32004446, Free PMC Article
  5. Dihydroxyacetone metabolism by human erythrocytes: demonstration of triokinase activity and its characterization. Beutler E, et al. Blood, 1973 Apr. PMID 4688871

See all (47) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Alternative Splicing of the Last TKFC Intron Yields Transcripts Differentially Expressed in Human Tissues That Code In Vitro for a Protein Devoid of Triokinase and FMN Cyclase Activity.
    Title: Alternative Splicing of the Last TKFC Intron Yields Transcripts Differentially Expressed in Human Tissues That Code In Vitro for a Protein Devoid of Triokinase and FMN Cyclase Activity.
  2. Bi-allelic Variants in TKFC Encoding Triokinase/FMN Cyclase Are Associated with Cataracts and Multisystem Disease.
    Title: Bi-allelic Variants in TKFC Encoding Triokinase/FMN Cyclase Are Associated with Cataracts and Multisystem Disease.
  3. The peptide fragment (m/z 520.3) of DAK is a promising biomarker to guide timing of antiviral treatment and to avoid liver biopsy in compensated chronic hepatitis B patients.
    Title: Serum dihydroxyacetone kinase peptide m/z 520.3 as predictor of disease severity in patients with compensated chronic hepatitis B.
  4. analysis of human triokinase/FMN cyclase reveals that kinase activity requires intact homodimers, but cyclase requires only a truncated, single domain subunit
    Title: Bifunctional homodimeric triokinase/FMN cyclase: contribution of protein domains to the activities of the human enzyme and molecular dynamics simulation of domain movements.
  5. DAK, the physiological suppressor of cytoplasmic viral RNA sensor MDA5, specifically inhibits MDA5- but not RNA helicase RIG-I-mediated innate antiviral signaling.
    Title: Negative regulation of MDA5- but not RIG-I-mediated innate antiviral signaling by the dihydroxyacetone kinase.
  6. Evidence supports that a single protein sustains both FMN cyclase and ATP-dependent Dha kinase activities, probably in a single active center
    Title: Identification of human and rat FAD-AMP lyase (cyclic FMN forming) as ATP-dependent dihydroxyacetone kinases.
Submit: New GeneRIF Correction

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description Tests
Triokinase and FMN cyclase deficiency syndrome
MedGen: C5394125 OMIM: 618805 GeneReviews: Not available
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Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • MGC5621, DKFZp586B1621

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables ATP binding IEA
Inferred from Electronic Annotation
more info
  
enables FAD-AMP lyase (cyclizing) activity IDA
Inferred from Direct Assay
more info
 PubMed 
enables glycerone kinase activity IBA
Inferred from Biological aspect of Ancestor
more info
  
enables glycerone kinase activity IDA
Inferred from Direct Assay
more info
 PubMed 
enables metal ion binding IEA
Inferred from Electronic Annotation
more info
  
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
enables triokinase activity IDA
Inferred from Direct Assay
more info
 PubMed 
Process Evidence Code Pubs
involved_in carbohydrate metabolic process IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in carbohydrate phosphorylation IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in fructose catabolic process to hydroxyacetone phosphate and glyceraldehyde-3-phosphate IEA
Inferred from Electronic Annotation
more info
  
involved_in glycerol catabolic process IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in negative regulation of MDA-5 signaling pathway IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in regulation of innate immune response IDA
Inferred from Direct Assay
more info
 PubMed 
Component Evidence Code Pubs
is_active_in cytosol IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in cytosol TAS
Traceable Author Statement
more info
  
located_in extracellular exosome HDA PubMed 
located_in nucleus HDA PubMed 

General protein information

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Preferred Names
triokinase/FMN cyclase
Names
ATP-dependent dihydroxyacetone kinase
DHA kinase
Dha kinase/FMN cyclase
FAD-AMP lyase cyclic FMN forming
FAD-AMP lyase cyclizing
bifunctional ATP-dependent dihydroxyacetone kinase/FAD-AMP lyase (cyclizing)
dihydroxyacetone kinase 2 homolog
glycerone kinase
testis tissue sperm-binding protein Li 84P
NP_001338905.1
NP_001338906.1
NP_001338907.1
NP_001338908.1
NP_001338909.1
NP_056348.2
XP_011543214.1
XP_016873006.1
XP_016873007.1
XP_016873008.1
XP_016873009.1
XP_047282683.1
XP_047282684.1
XP_047282685.1
XP_047282686.1
XP_047282687.1
XP_047282688.1
XP_047282689.1
XP_047282690.1
XP_047282691.1
XP_054224333.1
XP_054224334.1
XP_054224335.1
XP_054224336.1
XP_054224337.1
XP_054224338.1
XP_054224339.1
XP_054224340.1
XP_054224341.1
XP_054224342.1
XP_054224343.1
XP_054224344.1
XP_054224345.1
XP_054224346.1
XP_054224347.1
XP_054224348.1

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

  1. NM_001351976.2 → NP_001338905.1  triokinase/FMN cyclase isoform b

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3), as well as variant 2, encodes isoform b.
    Source sequence(s)
    AP003108
    Consensus CDS
    CCDS8003.1
    UniProtKB/Swiss-Prot
    Q2L9C1, Q3LXA3, Q53EQ9, Q9BVA7, Q9H895
    UniProtKB/TrEMBL
    A0A140VJH7, H0YCY6
    Conserved Domains (1) summary
    TIGR02361
    Location:4 → 558
    dak_ATP; dihydroxyacetone kinase, ATP-dependent

  2. NM_001351977.2 → NP_001338906.1  triokinase/FMN cyclase isoform a

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) encodes the longest isoform (a).
    Source sequence(s)
    AP003108
    UniProtKB/TrEMBL
    H0YCY6
    Conserved Domains (1) summary
    cl10557
    Location:4 → 526
    Dak1; Dak1 domain

  3. NM_001351978.2 → NP_001338907.1  triokinase/FMN cyclase isoform c

    Status: REVIEWED

    Source sequence(s)
    AP003108
    UniProtKB/TrEMBL
    H0YCY6
    Conserved Domains (1) summary
    cl10557
    Location:4 → 525
    Dak1; Dak1 domain

  4. NM_001351979.2 → NP_001338908.1  triokinase/FMN cyclase isoform d

    Status: REVIEWED

    Source sequence(s)
    AP003108
    UniProtKB/TrEMBL
    H0YCY6
    Related
    ENSP00000432539.1, ENST00000529479.5
    Conserved Domains (1) summary
    cl10557
    Location:4 → 526
    Dak1; Dak1 domain

  5. NM_001351980.2 → NP_001338909.1  triokinase/FMN cyclase isoform e

    Status: REVIEWED

    Source sequence(s)
    AP003108
    UniProtKB/TrEMBL
    H0YCY6
    Conserved Domains (1) summary
    cl10557
    Location:1 → 456
    Dak1; Dak1 domain

  6. NM_015533.4 → NP_056348.2  triokinase/FMN cyclase isoform b

    See identical proteins and their annotated locations for NP_056348.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2), as well as variant 3, encodes isoform b.
    Source sequence(s)
    AP003108, BC001341, BF197629, DA932478, DB056724
    Consensus CDS
    CCDS8003.1
    UniProtKB/Swiss-Prot
    Q2L9C1, Q3LXA3, Q53EQ9, Q9BVA7, Q9H895
    UniProtKB/TrEMBL
    A0A140VJH7, H0YCY6
    Related
    ENSP00000378360.3, ENST00000394900.8
    Conserved Domains (1) summary
    TIGR02361
    Location:4 → 558
    dak_ATP; dihydroxyacetone kinase, ATP-dependent

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000011.10 Reference GRCh38.p14 Primary Assembly

    Range
    61333228..61353426
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_047426731.1 → XP_047282687.1  triokinase/FMN cyclase isoform X7

    UniProtKB/TrEMBL
    H0YCY6

  2. XM_047426732.1 → XP_047282688.1  triokinase/FMN cyclase isoform X7

    UniProtKB/TrEMBL
    H0YCY6

  3. XM_047426729.1 → XP_047282685.1  triokinase/FMN cyclase isoform X6

    UniProtKB/Swiss-Prot
    Q2L9C1, Q3LXA3, Q53EQ9, Q9BVA7, Q9H895
    UniProtKB/TrEMBL
    A0A140VJH7, H0YCY6

  4. XM_047426730.1 → XP_047282686.1  triokinase/FMN cyclase isoform X6

    UniProtKB/Swiss-Prot
    Q2L9C1, Q3LXA3, Q53EQ9, Q9BVA7, Q9H895
    UniProtKB/TrEMBL
    A0A140VJH7, H0YCY6

  5. XM_047426733.1 → XP_047282689.1  triokinase/FMN cyclase isoform X8

    UniProtKB/TrEMBL
    H0YCY6

  6. XM_017017519.3 → XP_016873008.1  triokinase/FMN cyclase isoform X4

    UniProtKB/TrEMBL
    H0YCY6
    Conserved Domains (3) summary
    TIGR02361
    Location:4 → 526
    dak_ATP; dihydroxyacetone kinase, ATP-dependent
    pfam02733
    Location:19 → 335
    Dak1; Dak1 domain
    pfam02734
    Location:398 → 526
    Dak2; DAK2 domain

  7. XM_047426734.1 → XP_047282690.1  triokinase/FMN cyclase isoform X8

    UniProtKB/TrEMBL
    H0YCY6

  8. XM_047426735.1 → XP_047282691.1  triokinase/FMN cyclase isoform X8

    UniProtKB/TrEMBL
    H0YCY6

  9. XM_047426728.1 → XP_047282684.1  triokinase/FMN cyclase isoform X4

    UniProtKB/TrEMBL
    H0YCY6

  10. XM_047426727.1 → XP_047282683.1  triokinase/FMN cyclase isoform X4

    UniProtKB/TrEMBL
    H0YCY6

  11. XM_017017518.2 → XP_016873007.1  triokinase/FMN cyclase isoform X3

    UniProtKB/TrEMBL
    H0YCY6
    Conserved Domains (3) summary
    TIGR02361
    Location:50 → 571
    dak_ATP; dihydroxyacetone kinase, ATP-dependent
    pfam02733
    Location:65 → 381
    Dak1; Dak1 domain
    pfam02734
    Location:444 → 571
    Dak2; DAK2 domain

  12. XM_017017517.2 → XP_016873006.1  triokinase/FMN cyclase isoform X2

    UniProtKB/TrEMBL
    H0YCY6
    Conserved Domains (3) summary
    TIGR02361
    Location:50 → 604
    dak_ATP; dihydroxyacetone kinase, ATP-dependent
    pfam02733
    Location:65 → 381
    Dak1; Dak1 domain
    pfam02734
    Location:444 → 604
    Dak2; DAK2 domain

  13. XM_017017520.2 → XP_016873009.1  triokinase/FMN cyclase isoform X5

    UniProtKB/TrEMBL
    H0YCY6
    Conserved Domains (3) summary
    TIGR02361
    Location:50 → 572
    dak_ATP; dihydroxyacetone kinase, ATP-dependent
    pfam02733
    Location:65 → 381
    Dak1; Dak1 domain
    pfam02734
    Location:444 → 572
    Dak2; DAK2 domain

  14. XM_011544912.4 → XP_011543214.1  triokinase/FMN cyclase isoform X1

    See identical proteins and their annotated locations for XP_011543214.1

    UniProtKB/TrEMBL
    H0YCY6
    Conserved Domains (3) summary
    TIGR02361
    Location:50 → 572
    dak_ATP; dihydroxyacetone kinase, ATP-dependent
    pfam02733
    Location:65 → 381
    Dak1; Dak1 domain
    pfam02734
    Location:444 → 572
    Dak2; DAK2 domain

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060935.1 Alternate T2T-CHM13v2.0

    Range
    61322174..61342034
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054368369.1 → XP_054224344.1  triokinase/FMN cyclase isoform X7

    UniProtKB/TrEMBL
    H0YCY6

  2. XM_054368366.1 → XP_054224341.1  triokinase/FMN cyclase isoform X6

    UniProtKB/TrEMBL
    H0YCY6

  3. XM_054368368.1 → XP_054224343.1  triokinase/FMN cyclase isoform X6

    UniProtKB/TrEMBL
    H0YCY6

  4. XM_054368371.1 → XP_054224346.1  triokinase/FMN cyclase isoform X8

    UniProtKB/TrEMBL
    H0YCY6

  5. XM_054368361.1 → XP_054224336.1  triokinase/FMN cyclase isoform X4

    UniProtKB/TrEMBL
    H0YCY6

  6. XM_054368370.1 → XP_054224345.1  triokinase/FMN cyclase isoform X7

    UniProtKB/TrEMBL
    H0YCY6

  7. XM_054368367.1 → XP_054224342.1  triokinase/FMN cyclase isoform X6

    UniProtKB/TrEMBL
    H0YCY6

  8. XM_054368372.1 → XP_054224347.1  triokinase/FMN cyclase isoform X8

    UniProtKB/TrEMBL
    H0YCY6

  9. XM_054368362.1 → XP_054224337.1  triokinase/FMN cyclase isoform X4

    UniProtKB/TrEMBL
    H0YCY6

  10. XM_054368373.1 → XP_054224348.1  triokinase/FMN cyclase isoform X8

    UniProtKB/TrEMBL
    H0YCY6

  11. XM_054368364.1 → XP_054224339.1  triokinase/FMN cyclase isoform X4

    UniProtKB/TrEMBL
    H0YCY6

  12. XM_054368363.1 → XP_054224338.1  triokinase/FMN cyclase isoform X4

    UniProtKB/TrEMBL
    H0YCY6

  13. XM_054368360.1 → XP_054224335.1  triokinase/FMN cyclase isoform X3

    UniProtKB/TrEMBL
    H0YCY6

  14. XM_054368359.1 → XP_054224334.1  triokinase/FMN cyclase isoform X2

    UniProtKB/TrEMBL
    H0YCY6

  15. XM_054368365.1 → XP_054224340.1  triokinase/FMN cyclase isoform X5

    UniProtKB/TrEMBL
    H0YCY6

  16. XM_054368358.1 → XP_054224333.1  triokinase/FMN cyclase isoform X1

    UniProtKB/TrEMBL
    H0YCY6
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q3LXA3.2 GenPept UniProtKB/Swiss-Prot:Q3LXA3

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