TKFC Gene (Protein Coding)

Triokinase And FMN Cyclase

GCID:: GC11P061334

GIFtS:: 40

Genes Participants

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 2... See more...

Aliases for TKFC Gene

Triokinase And FMN Cyclase ² ³ ⁵
Triokinase/FMN Cyclase ² ³ ⁴
Bifunctional ATP-Dependent Dihydroxyacetone Kinase/FAD-AMP Lyase (Cyclizing) ³ ⁴
NET45 ² ³
DAK ³ ⁴
Dihydroxyacetone Kinase 2 Homolog (S. Cerevisiae) ²
Testis Tissue Sperm-Binding Protein Li 84P ³
Dihydroxyacetone Kinase 2 Homolog (Yeast) ²
ATP-Dependent Dihydroxyacetone Kinase ³

Dihydroxyacetone Kinase 2 Homolog ³
FAD-AMP Lyase Cyclic FMN Forming ³
FAD-AMP Lyase (Cyclizing) ²
FAD-AMP Lyase Cyclizing ³
Dha Kinase/FMN Cyclase ³
Glycerone Kinase ³
DKFZP586B1621 ²
DHA Kinase ³
TKFCD ³
TKFC ⁵

External Ids for TKFC Gene

HGNC: 24552
NCBI Entrez Gene: 26007
Ensembl: ENSG00000149476
OMIM®: 615844
UniProtKB/Swiss-Prot: Q3LXA3

Previous HGNC Symbols for TKFC Gene

Search aliases for TKFC gene in PubMed and other databases

Summaries for TKFC Gene

Entrez Gene Summary for TKFC 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 cyclin FMN) from FAD. Several alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jun 2017]

GeneCards Summary for TKFC Gene

TKFC (Triokinase And FMN Cyclase) is a Protein Coding gene. Diseases associated with TKFC include Triokinase And Fmn Cyclase Deficiency Syndrome and Sengers Syndrome. Among its related pathways are Carbon metabolism and Fructose metabolism. Gene Ontology (GO) annotations related to this gene include glycerone kinase activity and triokinase activity.

UniProtKB/Swiss-Prot Summary for TKFC Gene

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).
- TKFC_HUMAN,Q3LXA3

Gene Wiki entry for TKFC Gene

Additional gene information for TKFC Gene

Alliance of Genome Resources

Search for TKFC at DataMed
Search for TKFC at HumanCyc

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for TKFC Gene

Genomics for TKFC Gene

GeneHancer (GH) Regulatory Elements Pubs

Download GeneHancer 2017 data

Request up-to-date GeneHancer data

Promoters and enhancers for TKFC Gene

GeneHancer (GH) Identifier	GH Type	GH Score	GH Sources	Gene Association Score	Total Score	TSS distance (kb)	Number of Genes Away	Size (kb)	Transcription Factor Binding Sites
GH11J061330	Promoter/Enhancer	2.4	EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER	250.7	+0.7	724	6	BCLAF1 ZNF654 MYC IKZF1 ZNF600 JUND ZNF592 ZMYM3 POLR2A NFIC	HSALNG0084515 TKFC lnc-TMEM138-9 DDB1 CPSF7 TMEM138 RN7SL23P TMEM216 VPS37C CYB561A3
GH11J061391	Promoter/Enhancer	2.2	EPDnew Ensembl ENCODE CraniofacialAtlas	12.1	+59.3	59289	3	BCLAF1 MYC ZNF592 POLR2A YY1 MXD4 KLF11 ETS1 TRIM22 ZNF341	TMEM216 HSALNG0084523 MN309361 lnc-CPSF7-6 DDB1 TKFC ENSG00000256591
GH11J061428	Promoter/Enhancer	2.2	EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER	10.4	+96.8	96824	3.5	BCLAF1 ZNF207 MYC ZNF600 POLR2A BRCA1 NFIC ZIC2 ZBTB10 YY1	CPSF7 SDHAF2 ENSG00000256591 lnc-CYB561A3-2 TMEM216 TMEM138 RN7SL23P VPS37C TMEM109 DDB1
GH11J061365	Enhancer	1.1	ENCODE dbSUPER	12.4	+35.3	35316	5.7	BCLAF1 SP1 IKZF1 NCOR1 ZNF592 POLR2A CEBPA NFIC YY1 MXD4	TMEM216 DDB1 TKFC HSALNG0084519 lnc-TMEM138-10 TMEM138
GH11J061539	Enhancer	1.5	VISTA Ensembl ENCODE CraniofacialAtlas dbSUPER	9.3	+209.4	209381	9.6	IKZF1 CEBPA NFIC CHD4 YY1 REST CEBPB CTCF ZNF217 HCFC1	ENSG00000256443 LRRC10B SYT7 DDB1 TKFC ZP1 HSALNG0084540 lnc-CPSF7-4 lnc-CPSF7-5

- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around TKFC on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for TKFC

Genomic Locations for TKFC Gene

Latest Assembly

chr11:61,333,220-61,353,426: (GRCh38/hg38)

Size:: 20,207 bases
Orientation:: Plus strand

Previous Assembly

chr11:61,100,700-61,120,898: (GRCh37/hg19 by Entrez Gene)

Size:: 20,199 bases
Orientation:: Plus strand

chr11:61,100,682-61,120,767: (GRCh37/hg19 by Ensembl)

Size:: 20,086 bases
Orientation:: Plus strand

Genomic View for TKFC Gene

Genes around TKFC on UCSC Golden Path with GeneCards custom track

Cytogenetic band:

11q12.2 by HGNC
11q12.2 by Entrez Gene
11q12.2 by Ensembl

TKFC Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)

Genomic Location for TKFC Gene — Genomic Neighborhood • Exon Structure • Gene Density

RefSeq DNA sequence for TKFC Gene

NC_000011.10

Proteins for TKFC Gene

Protein details for TKFC Gene (UniProtKB/Swiss-Prot)
Protein Symbol:

Q3LXA3-TKFC_HUMAN

Recommended name:

Triokinase/FMN cyclase

Protein Accession:

Q3LXA3

Secondary Accessions:
- Q2L9C1
- Q53EQ9
- Q9BVA7
- Q9H895
Protein attributes for TKFC Gene
Size:

575 amino acids

Molecular mass:

58947 Da

Cofactor:

Name=Mg(2+); Xref=ChEBI:CHEBI:18420;

Cofactor:

Name=Mn(2+); Xref=ChEBI:CHEBI:29035;

Cofactor:

Name=Co(2+); Xref=ChEBI:CHEBI:48828;
Quaternary structure:
Homodimer (By similarity). Interacts with IFIH1 (via the CARD domains), the interaction is inhibited by viral infection (PubMed:17600090).
Miscellaneous:
[Isoform 2]: Inactive as DHA kinase and FMN cyclase.
Alternative splice isoforms for TKFC Gene
UniProtKB/Swiss-Prot:
Q3LXA3-1

Q3LXA3-2

neXtProt entry for TKFC Gene

Protein Expression for TKFC Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

Post-translational modifications for TKFC Gene

Ubiquitination at Lys372 and Lys522
- NX_Q3LXA3 (NX_Q3LXA3-1)
Modification sites at PhosphoSitePlus
- Q3LXA3

Other Protein References for TKFC Gene

ENSEMBL proteins:

REFSEQ proteins:

Antibodies for research

LifeSpan BioSciences TKFC / DAK Antibody

G Biosciences Immunotag™ DAK Antibody (ITA0492-100u) and Immunotag™ DAK Antibody (ITA4197-100u)

GeneTex Anti-DAK antibody (GTX111471) and Anti-DAK antibody (GTX103102)

OriGene Antibodies for TKFC
Custom Antibody Services

Novus Biologicals Antibodies for TKFC

Abcam antibodies for TKFC
- DAK

Invitrogen Antibodies for TKFC (AFLGC-TKFC)

antibodies-online: Show 12 available DAK Antibodies ranked by validation data
Compare Top DAK Antibodies
Quality Products:

Biorbyt antibodies for TKFC
- orb417139

Boster Bio Antibodies for TKFC
- A12154
- A30502

ProSci Antibodies for TKFC
- triokinase and FMN cyclase
Custom Antibody Services

Santa Cruz Biotechnology (SCBT) Antibodies for TKFC
- DAK (A-5)
- DAK (G-5)

Browse Sino Biological Antibodies

Protein products for research

OriGene Purified Proteins for TKFC
- NM_015533
- NM_015533
- NM_015533
- NM_015533
- NM_145496
Search Origene for MassSpec and Protein Over-expression Lysates for TKFC
Origene Custom Protein Services for TKFC

Novus Biologicals proteins and lysates for TKFC

Browse ProSpec Recombinant Proteins

antibodies-online: Show 6 available DAK Proteins ranked by validation data
Compare Top DAK Proteins
Quality Products:

Search for TKFC Proteins at ProSci

Abcam proteins for TKFC
- DAK

Assay products for research

antibodies-online: Show 6 available DAK Elisa Kits ranked by validation data
Compare Top DAK Elisa Kits
Quality Products:

Browse Boster Bio ELISA Kits

Browse Sino Biological Assays

No data available for DME Specific Peptides for TKFC Gene

Domains & Families for TKFC Gene

Gene Families for TKFC Gene

Human Protein Atlas (HPA):

Enzymes
Predicted intracellular proteins

Protein Domains for TKFC Gene

InterPro:

Blocks:

Dak kinase domain
Dak phosphatase domain

Suggested Antigen Peptide Sequences for TKFC Gene

GenScript: Design optimal peptide antigens:

DAK protein (A0AUP5_HUMAN)
Bifunctional ATP-dependent dihydroxyacetone kinase/FAD-AMP lyase (cyclizing) (DHAK_HUMAN)
Dha kinase/FMN cyclase splice variant (Q2L9C1_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q3LXA3

UniProtKB/Swiss-Prot:

TKFC_HUMAN :

DhaK and DhaL domains have differential roles, individually DhaK is inactive and DhaL displays cyclase but not kinase activity.
Belongs to the dihydroxyacetone kinase (DAK) family.

Domain:

DhaK and DhaL domains have differential roles, individually DhaK is inactive and DhaL displays cyclase but not kinase activity.

Family:

Belongs to the dihydroxyacetone kinase (DAK) family.

Function for TKFC Gene

Molecular function for TKFC Gene

UniProtKB/Swiss-Prot 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).

TKFC_HUMAN,Q3LXA3

UniProtKB/Swiss-Prot CatalyticActivity:

Reaction=ATP + dihydroxyacetone = ADP + dihydroxyacetone phosphate + H(+); Xref=Rhea:RHEA:15773, ChEBI:CHEBI:15378, ChEBI:CHEBI:16016, ChEBI:CHEBI:30616, ChEBI:CHEBI:57642, ChEBI:CHEBI:456216; EC=2.7.1.29; Evidence={ECO:0000269|PubMed:32004446, ECO:0000269|PubMed:4688871};.

TKFC_HUMAN,Q3LXA3

UniProtKB/Swiss-Prot CatalyticActivity:

Reaction=ATP + D-glyceraldehyde = ADP + D-glyceraldehyde 3-phosphate + H(+); Xref=Rhea:RHEA:13941, ChEBI:CHEBI:15378, ChEBI:CHEBI:17378, ChEBI:CHEBI:30616, ChEBI:CHEBI:59776, ChEBI:CHEBI:456216; EC=2.7.1.28; Evidence={ECO:0000269|PubMed:32004446, ECO:0000269|PubMed:4688871};.

TKFC_HUMAN,Q3LXA3

UniProtKB/Swiss-Prot CatalyticActivity:

Reaction=FAD = AMP + H(+) + riboflavin cyclic-4',5'-phosphate; Xref=Rhea:RHEA:13729, ChEBI:CHEBI:15378, ChEBI:CHEBI:57692, ChEBI:CHEBI:76202, ChEBI:CHEBI:456215; EC=4.6.1.15; Evidence={ECO:0000269|PubMed:4688871};.

TKFC_HUMAN,Q3LXA3

UniProtKB/Swiss-Prot BiophysicochemicalProperties:

Kinetic parameters: KM=0.5 uM for dihydroxyacetone {ECO:0000269|PubMed:4688871}; KM=11 uM for glyceraldehyde {ECO:0000269|PubMed:4688871}; KM=1.55 uM for dihydroxyacetone {ECO:0000269|PubMed:24569995}; KM=43.2 uM for ATP {ECO:0000269|PubMed:24569995}; KM=18.1 uM for glyceraldehyde {ECO:0000269|PubMed:24569995}; KM=7 uM for FAD {ECO:0000269|PubMed:24569995}; KM=12 uM for ADP-glucose {ECO:0000269|PubMed:24569995}; KM=317 uM for UDP-glucose {ECO:0000269|PubMed:24569995}; KM=263 uM for UDP-galactose {ECO:0000269|PubMed:24569995}; pH dependence: Optimum pH is 6.6. {ECO:0000269|PubMed:4688871};

TKFC_HUMAN,Q3LXA3

UniProtKB/Swiss-Prot EnzymeRegulation:

Each activity is inhibited by the substrate(s) of the other.

TKFC_HUMAN,Q3LXA3

Phenotypes From GWAS Catalog for TKFC Gene

Gene Ontology (GO) - Molecular Function for TKFC Gene

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0000166	nucleotide binding	IEA	--
GO:0003824	catalytic activity	IEA	--
GO:0004371	glycerone kinase activity	IEA,IDA	4688871
GO:0005515	protein binding	IPI	17600090
GO:0005524	ATP binding	IEA	--

Phenotypes for TKFC Gene

GenomeRNAi human phenotypes for TKFC:

Human Phenotype Ontology for TKFC Gene

HPO Id	HPO Name	Alternative Ids	Definition	Synonyms

Animal Models for research

Taconic Biosciences Mouse Models for TKFC
- Tkfc

CRISPR products for research

Applied Biological Materials (abm): CRISPR Clones for TKFC - Starting at $85 >
* TKFC CRISPR as ready-to-use vector or virus: Non-viral | Lenti- | Adeno- | AAV- | siRNA - Browse All
* Cas9 Nucleases, Nickases, Null Mutants, and GFP tag also available.

OriGene CRISPR knockouts for TKFC

Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for TKFC

Browse Santa Cruz Biotechnology (SCBT) for TKFC CRISPR

miRNA for TKFC Gene

miRTarBase miRNAs that target TKFC

miRNA products for research

Search GeneCopoeia for miRNA 3'UTR Target clone products for TKFC

Browse OriGene miRNA Products For TKFC

Inhibitory RNAs for research

Origene shrna, sirna, and RNAi products in human, mouse, rat for TKFC
Browse OriGene Inhibitory RNA Products For TKFC

Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for TKFC

Search Santa Cruz Biotechnology (SCBT) for TKFC siRNA/shRNA

Clone products for research

Applied Biological Materials (abm): Clones for TKFC - Starting at $45 >
* TKFC as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Retro- | Protein Vector - Browse All
* Viral Packaging Services and High Titer Production Services also available.

OriGene clones in human,mouse,rat for TKFC
- MC219223
- RN214942
- SC112650
- SC324128
OriGene ORF clones in human,mouse,rat for TKFC
- MG209059
- MR209059
- MR209059L3
- MR209059L4
- RC201724
- RC201724L3
- RC201724L4
- RG201724
- RR214942
- RR214942L3
- RR214942L4
- MR209059L3V
- MR209059L4V
- RC201724L3V
- RC201724L4V
- RR214942L3V
- RR214942L4V
Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling

Sino Biological Human cDNA Clone for TKFC

Search Addgene for plasmids for TKFC

Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for TKFC

Cell Lines for research

Browse ESI BIO Cell Lines and PureStem Progenitors for TKFC

Browse GeneCopoeia Cell Lines

VectorBuilder Stable cell line generation for TKFC

Horizon Cell Lines for TKFC
- DAK knockout cell line

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targets and HOMER Transcription for TKFC Gene

Localization for TKFC Gene

Subcellular locations from

COMPARTMENTS

Compartment	Confidence
nucleus	5
extracellular	4
cytosol	4
cytoskeleton	2
mitochondrion	2
peroxisome	2
plasma membrane	1
endoplasmic reticulum	1
endosome	1
lysosome	1
golgi apparatus	1

Subcellular locations from the

Human Protein Atlas (HPA)

Cytosol (2)
Nucleoplasm (2)

See all subcellular structures

Gene Ontology (GO) - Cellular Components for TKFC Gene

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005634	nucleus	HDA	21630459
GO:0005829	cytosol	TAS	--
GO:0070062	extracellular exosome	HDA	19056867

No data available for Subcellular locations from UniProtKB/Swiss-Prot for TKFC Gene

Pathways & Interactions for TKFC Gene

SuperPathways for TKFC Gene

	SuperPathway	Contained pathways
1	RIG-I/MDA5 mediated induction of IFN-alpha/beta pathways	RIG-I-like receptor signaling pathway .72 RIG-I-like Receptor Signaling .72	RIG-I/MDA5 mediated induction of IFN-alpha/beta pathways .47
2	Fructose metabolism	Fructose metabolism .30 sucrose degradation .30	Fructose catabolism .01
3	Metabolism	Metabolic pathways .40	Metabolism .40
4	Innate Immune System	Immune System .61	Innate Immune System .61
5	Carbon metabolism	Carbon metabolism .36

Pathways by source for TKFC Gene

2 BioSystems pathways for TKFC Gene

7 Reactome pathways for TKFC Gene

5 KEGG pathways for TKFC Gene

Interacting Proteins for TKFC Gene

STRING Interaction Network Preview (showing top 5 STRING interactants - click image to see top 25)

Selected Interacting proteins: Q3LXA3-TKFC_HUMAN ENSP00000378360 for TKFC Gene via UniProtKB STRING IID

Symbol	External ID(s)	Details
SDCBP	O00560 ⁴ ¹²⁴ ENSP00000260130 ²⁰	EBI-4291069, EBI-727004 STRING: ENSP00000260130 IID: # exp=1
ACAT2	ENSP00000356015 ²⁰ Q9BWD1 ¹²⁴	STRING: ENSP00000356015 IID: # exp=1
AGL	ENSP00000294724 ²⁰ P35573 ¹²⁴	STRING: ENSP00000294724 IID: # exp=1
ALDOC	ENSP00000226253 ²⁰ P09972 ¹²⁴	STRING: ENSP00000226253 IID: # pred=1
ENO3	ENSP00000324105 ²⁰ P13929 ¹²⁴	STRING: ENSP00000324105 IID: # exp=1

GPS-Prot Interaction Network for TKFC

Gene Ontology (GO) - Biological Process for TKFC Gene

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0006071	glycerol metabolic process	IEA	--
GO:0008152	metabolic process	IEA	--
GO:0016310	phosphorylation	IEA	--
GO:0019563	glycerol catabolic process	IBA	21873635
GO:0039534	negative regulation of MDA-5 signaling pathway	IDA	17600090

No data available for SIGNOR curated interactions for TKFC Gene

Drugs & Compounds for TKFC Gene

(5) Drugs for TKFC Gene - From: HMDB

Name	Status	Disease Links	Group
FAD	Approved	MalaCards Medline Plus	Pharma
Adenosine monophosphate	Approved, Investigational	MalaCards Medline Plus	Nutra
Dihydroxyacetone	Experimental	MalaCards Medline Plus	Pharma
Dihydroxyacetone phosphate	Investigational	MalaCards Medline Plus	Pharma
ATP	Investigational	MalaCards Medline Plus	Nutra

(3) Additional Compounds for TKFC Gene - From: HMDB

Name	Synonyms	CAS Number	PubChem IDs	PubMed IDs
ADP	5'-Adenylphosphoric acid Adenosine 5'-diphosphate ADENOSINE-5'-diphosphATE H3ADP 5'-Adenylphosphate	MalaCards Medline Plus	58-64-0	6022
glyceraldehyde	(+-)-Glyceraldehyde 2,3-Dihydroxypropanal 2,3-Dihydroxypropionaldehyde Aldotriose alpha,beta-Dihydroxypropionaldehyde	MalaCards Medline Plus	56-82-6	751
glyceraldehyde 3-phosphate	(2R)-2-Hydroxy-3-(phosphonooxy)-propanal Glyceraldehyde 3-phosphate Glyceraldehyde 3-phosphoric acid Glyceraldehyde-3-phosphoric acid D-Glyceraldehyde 3-phosphoric acid	MalaCards Medline Plus	591-57-1	439168

Drug products for research

Browse Tocris compounds for TKFC

Browse compounds at ApexBio

Transcripts for TKFC Gene

mRNA/cDNA for TKFC Gene

6 REFSEQ mRNAs :

13 NCBI additional mRNA sequence :

21 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

ENST00000394900 4678 nts (view in UCSC)
ENST00000524440 496 nts (view in UCSC)
ENST00000524953 575 nts (view in UCSC)
ENST00000524968 558 nts (view in UCSC)
ENST00000525170 552 nts (view in UCSC)

CRISPR products for research

Applied Biological Materials (abm): CRISPR Clones for TKFC - Starting at $85 >
* TKFC CRISPR as ready-to-use vector or virus: Non-viral | Lenti- | Adeno- | AAV- | siRNA - Browse All
* Cas9 Nucleases, Nickases, Null Mutants, and GFP tag also available.

OriGene CRISPR knockouts for TKFC

Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for TKFC

Browse Santa Cruz Biotechnology (SCBT) for TKFC CRISPR

miRNA products for research

Search GeneCopoeia for miRNA 3'UTR Target clone products for TKFC

Browse OriGene miRNA Products For TKFC

Inhibitory RNAs for research

Origene shrna, sirna, and RNAi products in human, mouse, rat for TKFC
Browse OriGene Inhibitory RNA Products For TKFC

Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for TKFC

Search Santa Cruz Biotechnology (SCBT) for TKFC siRNA/shRNA

Clone products for research

Applied Biological Materials (abm): Clones for TKFC - Starting at $45 >
* TKFC as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Retro- | Protein Vector - Browse All
* Viral Packaging Services and High Titer Production Services also available.

OriGene clones in human,mouse,rat for TKFC
- MC219223
- RN214942
- SC112650
- SC324128
OriGene ORF clones in human,mouse,rat for TKFC
- MG209059
- MR209059
- MR209059L3
- MR209059L4
- RC201724
- RC201724L3
- RC201724L4
- RG201724
- RR214942
- RR214942L3
- RR214942L4
- MR209059L3V
- MR209059L4V
- RC201724L3V
- RC201724L4V
- RR214942L3V
- RR214942L4V
Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling

Sino Biological Human cDNA Clone for TKFC

Search Addgene for plasmids for TKFC

Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for TKFC

Alternative Splicing Database (ASD) splice patterns (SP) for TKFC Gene

ExUns:	1a	·	1b	·	1c	·	1d	^	2a	·	2b	·	2c	·	2d	^	3a	·	3b	·	3c	^	4	^	5	^	6a	·	6b	·	6c	^	7	^	8a	·	8b	·	8c	^	9a	·	9b	^	10a	·	10b	^	11a	·	11b	·
SP1:									-		-		-		-		-		-				-		-																				-				-		-
SP2:													-		-		-		-				-		-																				-
SP3:									-		-		-		-		-		-				-		-								-		-		-		-		-		-		-		-		-		-
SP4:									-				-		-		-		-				-		-
SP5:									-		-		-		-		-		-						-
SP6:									-		-		-		-		-		-				-		-				-		-
SP7:																							-		-
SP8:									-		-		-		-		-		-
SP9:
SP10:
SP11:																									-
SP12:																																																	-		-
SP13:
SP14:							-		-
SP15:									-

ExUns:	11c	^	12	^	13a	·	13b	·	13c	^	14	^	15	^	16	^	17	^	18a	·	18b	^	19	^	20	^	21a	·	21b
SP1:							-		-
SP2:
SP3:	-		-		-		-		-		-		-		-		-		-
SP4:
SP5:
SP6:
SP7:
SP8:
SP9:
SP10:
SP11:
SP12:
SP13:
SP14:
SP15:

Relevant External Links for TKFC Gene

GeneLoc Exon Structure for: TKFC

Expression for TKFC Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for TKFC Gene

mRNA expression in normal human tissues for TKFC Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Intestine (Gastrointestinal Tract)
- Duodenum
Kidney (Urinary System)
Testis (Reproductive System)
Adrenal Gland (Endocrine System)

Protein differential expression in normal tissues from HIPED for TKFC Gene

This gene is overexpressed in Liver, secretome (26.0) and Liver (15.2).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for TKFC Gene

Integrated Proteomics: protein expression from ProteomicsDB, MaxQB, and MOPED for TKFC Gene

Integrated proteomics: cell line protein expression from ProteomicsDB, MOPED and MaxQB for TKFC Gene

Protein tissue co-expression partners for TKFC Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for TKFC

mRNA Expression by UniProt/SwissProt for TKFC Gene:

Q3LXA3-TKFC_HUMAN

Tissue specificity: Detected in erythrocytes (at protein level).

Evidence on tissue expression from TISSUES for TKFC Gene

Nervous system(4.9)
Liver(4.6)
Kidney(4.6)
Thyroid gland(4.4)
Intestine(3.8)
Blood(2.5)
Adrenal gland(2.4)
Skin(2.4)
Lymph node(2.3)
Spleen(2.1)
Muscle(2)

Primer products for research

OriGene qPCR primer pairs for TKFC
- HP211687
- MP203686
OriGene qPCR primer pairs and template standards for TKFC
- HK202397

Gene Expression Assays for research

Applied Biosystems by Thermo Fisher Scientific TaqMan® Assays for TKFC

No data available for mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer for TKFC Gene

Orthologs for TKFC Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for TKFC Gene

Organism	Taxonomy	Gene	Similarity	Type	Details
Chimpanzee (Pan troglodytes)	Mammalia	DAK ²⁹ ³⁰	99.36 (n)	OneToOne	466626 NM_001246594.1 NP_001233523.1 11:59161876-59173789
Dog (Canis familiaris)	Mammalia	DAK ²⁹ ³⁰	89.62 (n)	OneToOne	483800 XM_005631679.1 XP_005631736.1 18:55049318-55063544
Cow (Bos Taurus)	Mammalia	DAK ²⁹ ³⁰	89.57 (n)	OneToOne	512373 NM_001024524.3 NP_001019695.2 29:40537653-40549701
Rat (Rattus norvegicus)	Mammalia	Dak ²⁹	83.83 (n)		361730 NM_001039031.1 NP_001034120.1
Mouse (Mus musculus)	Mammalia	Dak ²⁹ ³⁰	83.59 (n)	OneToOne	225913 NM_145496.1 NP_663471.1 19:10592200-10604258
Mouse (Mus musculus)	Mammalia	Tkfc ¹⁶			10592197
Oppossum (Monodelphis domestica)	Mammalia	DAK ³⁰	83 (a)	OneToOne	5:299423014-299433960
Platypus (Ornithorhynchus anatinus)	Mammalia	DAK ³⁰	82 (a)	OneToOne	Contig8502:9523-25878
Chicken (Gallus gallus)	Aves	-- ³⁰	75 (a)	OneToMany	5:408173-409553
		DAK ²⁹	73.83 (n)		426629 XM_424258.4 XP_424258.4
		-- ³⁰	73 (a)	OneToMany	AADN03019976.1:2-1130
Lizard (Anolis carolinensis)	Reptilia	DAK ³⁰	64 (a)	OneToOne	GL343235.1:784030-823242
Tropical Clawed Frog (Silurana tropicalis)	Amphibia	dak ²⁹	62.3 (n)		779584 XM_002937653.2 XP_002937699.2
Zebrafish (Danio rerio)	Actinopterygii	dak ²⁹ ³⁰	60.59 (n)	OneToOne	793926 NM_001076630.1 NP_001070098.1 7:20896261-20917819
Worm (Caenorhabditis elegans)	Secernentea	W02H5.8 ²⁹ ³⁰	49.38 (n)	OneToOne	178730 NM_071323.4 NP_503724.1 V:2647059-2652657
A. gosspyii yeast (Eremothecium gossypii)	Saccharomycetes	AGOS_AER139C ²⁹	47.79 (n)		4621204 NM_210352.2 NP_984998.2
Baker's yeast (Saccharomyces cerevisiae)	Saccharomycetes	DAK2 ³⁰	33 (a)	OneToMany	VI:23423-25198
Baker's yeast (Saccharomyces cerevisiae)	Saccharomycetes	DAK1 ³⁰	33 (a)	OneToMany	XIII:133475-135229
Thale Cress (Arabidopsis thaliana)	eudicotyledons	AT3G17770 ²⁹	49.03 (n)		821045 NM_112658.3 NP_188404.1
Rice (Oryza sativa)	Liliopsida	Os03g0719300 ²⁹	48.95 (n)		4333926 NM_001057628.1 NP_001051093.1
Rice (Oryza sativa)	Liliopsida	Os.46088 ²⁹			AK119254.1
Bread mold (Neurospora crassa)	Ascomycetes	NCU04400 ²⁹	46.06 (n)		3873631 XM_952384.1 XP_957477.1

Species where no ortholog for TKFC was found in the sources mined by GeneCards:

Actinobacteria (Mycobacterium tuberculosis)
African clawed frog (Xenopus laevis)
African malaria mosquito (Anopheles gambiae)
Alicante grape (Vitis vinifera)
Alpha proteobacteria (Wolbachia pipientis)
Amoeba (Dictyostelium discoideum)
Archea (Pyrococcus horikoshii)
Barley (Hordeum vulgare)
Beta proteobacteria (Neisseria meningitidis)
Chromalveolata (Phytophthora infestans)
Common water flea (Daphnia pulex)
Corn (Zea mays)
E. coli (Escherichia coli)
Filamentous fungi (Aspergillus nidulans)
Firmicute Bacteria (Streptococcus pneumoniae)
Fission Yeast (Schizosaccharomyces pombe)
Fruit Fly (Drosophila melanogaster)
Green Algae (Chlamydomonas reinhardtii)
Honey Bee (Apis mellifera)
K. Lactis Yeast (Kluyveromyces lactis)
Loblloly Pine (Pinus taeda)
Malaria Parasite (Plasmodium falciparum)
Medicago Trunc (Medicago Truncatula)
Moss (Physcomitrella patens)
Orangutan (Pongo pygmaeus)
Pig (Sus scrofa)
Rainbow Trout (Oncorhynchus mykiss)
Rice Blast Fungus (Magnaporthe grisea)
Schistosome Parasite (Schistosoma mansoni)
Sea Anemone (Nematostella vectensis)
Sea Vase (Ciona intestinalis)
Sea Squirt (Ciona savignyi)
Sea Urchin (Strongylocentrotus purpuratus)
Sorghum (Sorghum bicolor)
Soybean (Glycine max)
Stem Rust Fungus (Puccinia graminis)
Sugarcane (Saccharum officinarum)
Tomato (Lycopersicon esculentum)
Toxoplasmosis (Toxoplasma gondii)
Trichoplax (Trichoplax adhaerens)
Wheat (Triticum aestivum)

Evolution for TKFC Gene

ENSEMBL:: Gene Tree for TKFC (if available)
TreeFam:: Gene Tree for TKFC (if available)
Aminode:: Evolutionary constrained regions (ECRs) for TKFC: view image
Alliance of Genome Resources:: Additional Orthologs for TKFC

Paralogs for TKFC Gene

No data available for Paralogs for TKFC Gene

Variants for TKFC Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for TKFC Gene

SNP ID	Clinical significance and condition	Chr 11 pos	Variation	Type
rs1590578831	Likely Pathogenic: TKFC deficiency; Inborn errors of metabolism; Triokinase and FMN cyclase deficiency syndrome	61,345,352(+)	G/A NM_015533.4(TKFC):c.1333G>A (p.Gly445Ser)	MISSENSE
rs547013163	Likely Pathogenic: TKFC deficiency; Inborn errors of metabolism; Triokinase and FMN cyclase deficiency syndrome	61,346,403(+)	G/T NM_015533.4(TKFC):c.1628G>T (p.Arg543Ile)	MISSENSE_VARIANT,THREE_PRIME_UTR_VARIANT,INTRON
VAR_083849	Triokinase and FMN cyclase deficiency syndrome (TKFCD) [MIM:618805]		p.Gly445Ser
VAR_083850	Triokinase and FMN cyclase deficiency syndrome (TKFCD) [MIM:618805]		p.Arg543Ile
rs2260655	--		p.Ala185Thr

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for TKFC Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Structural Variations from Database of Genomic Variants (DGV) for TKFC Gene

Variant ID	Type	Subtype	PubMed ID
dgv662n106	CNV	deletion	24896259
esv1545620	CNV	deletion	17803354
esv1969466	CNV	deletion	18987734
esv2497950	CNV	deletion	19546169
esv2744588	CNV	deletion	23290073
esv3293	CNV	loss	18987735
esv3547872	CNV	deletion	23714750
esv5881	CNV	loss	19470904
nsv1070461	CNV	deletion	25765185
nsv1147756	CNV	deletion	26484159
nsv428259	CNV	gain+loss	18775914
nsv832177	CNV	loss	17160897

Variation tolerance for TKFC Gene

Residual Variation Intolerance Score: 55.7% of all genes are more intolerant (likely to be disease-causing)

Gene Damage Index Score: 3.92; 59.49% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for TKFC Gene

Human Gene Mutation Database (HGMD): TKFC
SNPedia medical, phenotypic, and genealogical associations of SNPs for: TKFC
Leiden Open Variation Database (LOVD): TKFC

SNP Genotyping and Copy Number Assays for research

Applied Biosystems by Thermo Fisher Scientific TaqMan® Assays for TKFC

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for TKFC Gene

Disorders for TKFC Gene

(7) MalaCards diseases for TKFC Gene - From: OMI, CVR, ORP, SWI, COP, and GCD

Disorder	Aliases	PubMed IDs
triokinase and fmn cyclase deficiency syndrome	tkfcd	32004446
sengers syndrome	mitochondrial dna depletion syndrome 10 ; mtdps10	32004446
inherited metabolic disorder	inborn errors of metabolism
squamous cell bile duct carcinoma	bile duct squamous cell carcinoma
microcytic anemia	iron-refractory iron deficiency anemia

- elite association - COSMIC cancer census association via MalaCards

Search TKFC in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

TKFC_HUMAN

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.

Additional Disease Information for TKFC

Atlas: ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform: Open Targets Platform

Search disorders for TKFC gene in PubMed and other databases

No data available for Genatlas for TKFC Gene

Publications for TKFC Gene

Bi-allelic Variants in TKFC Encoding Triokinase/FMN Cyclase Are Associated with Cataracts and Multisystem Disease. (PMID: 32004446) Wortmann SB … Rahman S (American journal of human genetics 2020) ³ ⁴ ⁷²
Bifunctional homodimeric triokinase/FMN cyclase: contribution of protein domains to the activities of the human enzyme and molecular dynamics simulation of domain movements. (PMID: 24569995) Rodrigues JR … Cameselle JC (The Journal of biological chemistry 2014) ² ³ ⁴
Identification of human and rat FAD-AMP lyase (cyclic FMN forming) as ATP-dependent dihydroxyacetone kinases. (PMID: 16289032) Cabezas A … Cameselle JC (Biochemical and biophysical research communications 2005) ³ ⁴ ²²
Negative regulation of MDA5- but not RIG-I-mediated innate antiviral signaling by the dihydroxyacetone kinase. (PMID: 17600090) Diao F … Shu HB (Proceedings of the National Academy of Sciences of the United States of America 2007) ³ ⁴
The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) ³ ⁴