DTYMK deoxythymidylate kinase [Homo sapiens (human)] - Gene

Summary

Official Symbol: DTYMKprovided by HGNC
Official Full Name: deoxythymidylate kinaseprovided by HGNC
Primary source: HGNC:HGNC:3061
See related: Ensembl:ENSG00000168393 MIM:188345; AllianceGenome:HGNC:3061
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: CDC8; TMPK; TYMK; CONPM; PP3731
Summary: Enables ATP binding activity and thymidylate kinase activity. Involved in dTDP biosynthetic process and thymidine biosynthetic process. Located in mitochondrion. [provided by Alliance of Genome Resources, Nov 2024]
Expression: Ubiquitous expression in bone marrow (RPKM 9.1), lymph node (RPKM 8.0) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 2q37.3

Exon count:: 7

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	2	NC_000002.12 (241675747..241686815, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	2	NC_060926.1 (242179081..242190147, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	2	NC_000002.11 (242615162..242626230, complement)

Chromosome 2 - NC_000002.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

The evolving landscape of involvement of DTYMK enzymes in cancer.
Title: The evolving landscape of involvement of DTYMK enzymes in cancer.
DTYMK is essential for genome integrity and neuronal survival.
Title: DTYMK is essential for genome integrity and neuronal survival.
Genetic effects on planum temporale asymmetry and their limited relevance to neurodevelopmental disorders, intelligence or educational attainment.
Title: Genetic effects on planum temporale asymmetry and their limited relevance to neurodevelopmental disorders, intelligence or educational attainment.
DTYMK is a novel gene for mitochondrial DNA depletion syndrome
Title: Deoxythymidylate kinase, DTYMK, is a novel gene for mitochondrial DNA depletion syndrome.
these findings suggest that Tip60-ATM signaling has a functional contribution to the recruitment of TMPK to DNA damage sites, thereby increasing local dTTP synthesis for DNA repair.
Title: Thymidylate kinase is critical for DNA repair via ATM-dependent Tip60 complex formation.
The RAMD simulations on product-bound structures of both ttTMPK and hTMPK, revealed that while several exit patterns of the products are permissible, the sequential exit mode is the most preferred pattern for both ttTMPK and hTMPK enzymes. Additionally, the product release from the hTMPK was found to be faster and more directional as compared to ttTMPK
Title: Insights into product release dynamics through structural analyses of thymidylate kinase.
Lentiviral delivery of small hairpin RNA targeting TMPK in combination with a low dose of doxorubicin as a new approach to kill colon cancer cells regardless of p53 status.
Title: Synthetic lethality by lentiviral short hairpin RNA silencing of thymidylate kinase and doxorubicin in colon cancer cells regardless of the p53 status.

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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
Neurodegeneration, childhood-onset, with progressive microcephaly MedGen: C5676972 OMIM: 619847 GeneReviews: Not available	not available

EBI GWAS Catalog

Description
Identification of 23 new prostate cancer susceptibility loci using the iCOGS custom genotyping array. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

RH93411 (e-PCR)
- UniSTS:86042

RH70744 (e-PCR)
- UniSTS:65824

STS-L16991 (e-PCR)
- UniSTS:49753

G54030 (e-PCR)
- UniSTS:109412

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables ATP binding	IDA Inferred from Direct Assay more info	PubMed
enables nucleoside diphosphate kinase activity	IBA Inferred from Biological aspect of Ancestor more info
enables thymidylate kinase activity	IBA Inferred from Biological aspect of Ancestor more info
enables thymidylate kinase activity	IDA Inferred from Direct Assay more info	PubMed

Process	Evidence Code	Pubs
involved_in cellular response to growth factor stimulus	IEA Inferred from Electronic Annotation more info
involved_in dTDP biosynthetic process	IBA Inferred from Biological aspect of Ancestor more info
involved_in dTDP biosynthetic process	IDA Inferred from Direct Assay more info	PubMed
involved_in dTTP biosynthetic process	IBA Inferred from Biological aspect of Ancestor more info
involved_in dTTP biosynthetic process	IEA Inferred from Electronic Annotation more info
involved_in dUDP biosynthetic process	IBA Inferred from Biological aspect of Ancestor more info
involved_in myoblast differentiation	IEA Inferred from Electronic Annotation more info
involved_in nucleoside monophosphate phosphorylation	IEA Inferred from Electronic Annotation more info
involved_in response to cadmium ion	IEA Inferred from Electronic Annotation more info
involved_in response to estrogen	IEA Inferred from Electronic Annotation more info
involved_in thymidine biosynthetic process	IDA Inferred from Direct Assay more info	PubMed
involved_in thymidine biosynthetic process	TAS Traceable Author Statement more info	PubMed

Component	Evidence Code	Pubs
is_active_in cytoplasm	IBA Inferred from Biological aspect of Ancestor more info
located_in cytosol	TAS Traceable Author Statement more info
located_in mitochondrial matrix	IEA Inferred from Electronic Annotation more info
located_in mitochondrion	HTP more info	PubMed
is_active_in mitochondrion	IBA Inferred from Biological aspect of Ancestor more info
is_active_in nucleus	IBA Inferred from Biological aspect of Ancestor more info

General protein information

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Preferred Names: thymidylate kinase

Names: dTMP kinase; deoxythymidylate kinase (thymidylate kinase)

NP_001158503.1

EC 2.7.4.9

NP_001307831.1

EC 2.7.4.9

NP_001307832.1

EC 2.7.4.9

NP_001307833.1

EC 2.7.4.9

NP_001307834.1

EC 2.7.4.9

NP_036277.2

EC 2.7.4.9

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)

NM_001165031.2 → NP_001158503.1 thymidylate kinase isoform 2

See identical proteins and their annotated locations for NP_001158503.1

Status: VALIDATED

Source sequence(s)

AA446104, AK223434, BC171902

UniProtKB/TrEMBL

Q53F55

Conserved Domains (2) summary

PLN02924
Location:2 → 187

PLN02924; thymidylate kinase

pfam02223
Location:11 → 167

Thymidylate_kin; Thymidylate kinase
NM_001320902.2 → NP_001307831.1 thymidylate kinase isoform 3

Status: VALIDATED

Source sequence(s)

AA446104, AK223434, CN356277, CX166352

UniProtKB/TrEMBL

H7C312

Conserved Domains (2) summary

PLN02924
Location:2 → 168

PLN02924; thymidylate kinase

pfam02223
Location:11 → 148

Thymidylate_kin; Thymidylate kinase
NM_001320903.2 → NP_001307832.1 thymidylate kinase isoform 4

Status: VALIDATED

Source sequence(s)

AA446104, AK223434, BC171902, CX166352

UniProtKB/Swiss-Prot

P23919

UniProtKB/TrEMBL

Q53F55

Conserved Domains (1) summary

cl17190
Location:2 → 78

NK; Nucleoside/nucleotide kinase (NK) is a protein superfamily consisting of multiple families of enzymes that share structural similarity and are functionally related to the catalysis of the reversible phosphate group transfer from nucleoside triphosphates ...
NM_001320904.2 → NP_001307833.1 thymidylate kinase isoform 5

Status: VALIDATED

Source sequence(s)

AA427388, AA446104, AK223434, CX166352

UniProtKB/TrEMBL

Q53F55

Related

ENSP00000408939.1, ENST00000445261.5

Conserved Domains (2) summary

PLN02924
Location:2 → 192

PLN02924; thymidylate kinase

pfam02223
Location:11 → 172

Thymidylate_kin; Thymidylate kinase
NM_001320905.2 → NP_001307834.1 thymidylate kinase isoform 6

Status: VALIDATED

Source sequence(s)

AA446104, AC133528, AK223434, BF951595, CX166352

UniProtKB/TrEMBL

Q53F55

Conserved Domains (3) summary

PLN02924
Location:2 → 250

PLN02924; thymidylate kinase

pfam02223
Location:11 → 230

Thymidylate_kin; Thymidylate kinase

pfam13900
Location:84 → 119

GVQW; Putative domain of unknown function
NM_012145.4 → NP_036277.2 thymidylate kinase isoform 1

See identical proteins and their annotated locations for NP_036277.2

Status: VALIDATED

Source sequence(s)

AA446104, BC147006

Consensus CDS

CCDS2552.1

UniProtKB/Swiss-Prot

B7ZW70, P23919, Q6FGX1, Q9BUX4

UniProtKB/TrEMBL

Q53F55, Q6FGU2

Related

ENSP00000304802.2, ENST00000305784.7

Conserved Domains (1) summary

PLN02924
Location:2 → 211

PLN02924; thymidylate kinase

RNA

NR_033255.2 RNA Sequence

Status: VALIDATED

Description

Transcript Variant: This variant (3) is represented as non-coding because the use of the 5'-most supported translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).

Source sequence(s)

AW273041, BC171903, BQ021114

Related

ENST00000400770.6
NR_135492.2 RNA Sequence

Status: VALIDATED

Description

Transcript Variant: This variant (8) is represented as non-coding because the use of the 5'-most supported translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).

Source sequence(s)

AA446104, AK223434, CN356277, CX166352