TLK1 tousled like kinase 1 [Homo sapiens (human)] - Gene

Summary

Official Symbol: TLK1provided by HGNC
Official Full Name: tousled like kinase 1provided by HGNC
Primary source: HGNC:HGNC:11841
See related: Ensembl:ENSG00000198586 MIM:608438; AllianceGenome:HGNC:11841
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: PKU-beta
Summary: The protein encoded by this gene is a serine/threonine kinase that may be involved in the regulation of chromatin assembly. The encoded protein is only active when it is phosphorylated, and this phosphorylation is cell cycle-dependent, with the maximal activity of this protein coming during S phase. The catalytic activity of this protein is diminished by DNA damage and by blockage of DNA replication. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2011]
Expression: Ubiquitous expression in testis (RPKM 13.5), thyroid (RPKM 10.7) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 2q31.1

Exon count:: 24

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	2	NC_000002.12 (170990823..171231293, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	2	NC_060926.1 (171467942..171708444, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	2	NC_000002.11 (171847333..172087803, 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
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 TLK-ASF1 histone chaperone pathway plays a critical role in IL-1beta-mediated AML progression.
Title: The TLK-ASF1 histone chaperone pathway plays a critical role in IL-1β-mediated AML progression.
Untousling the Role of Tousled-like Kinase 1 in DNA Damage Repair.
Title: Untousling the Role of Tousled-like Kinase 1 in DNA Damage Repair.
CircTLK1 alleviates oxygen-glucose deprivation/reperfusion induced apoptosis in HK-2 cells through miR-136-5p/Bcl2 signal axis.
Title: CircTLK1 alleviates oxygen-glucose deprivation/reperfusion induced apoptosis in HK-2 cells through miR-136-5p/Bcl2 signal axis.
The interaction between ASF1B and TLK1 promotes the malignant progression of low-grade glioma.
Title: The interaction between ASF1B and TLK1 promotes the malignant progression of low-grade glioma.
CircTLK1 Downregulation Attenuates High Glucose-Induced Human Mesangial Cell Injury by Blocking the AKT/NF-kappaB Pathway Through Sponging miR-126-5p/miR-204-5p.
Title: CircTLK1 Downregulation Attenuates High Glucose-Induced Human Mesangial Cell Injury by Blocking the AKT/NF-κB Pathway Through Sponging miR-126-5p/miR-204-5p.
TLK1-mediated MK5-S354 phosphorylation drives prostate cancer cell motility and may signify distinct pathologies.
Title: TLK1-mediated MK5-S354 phosphorylation drives prostate cancer cell motility and may signify distinct pathologies.
CircTLK1 modulates sepsis-induced cardiomyocyte apoptosis via enhancing PARP1/HMGB1 axis-mediated mitochondrial DNA damage by sponging miR-17-5p.
Title: CircTLK1 modulates sepsis-induced cardiomyocyte apoptosis via enhancing PARP1/HMGB1 axis-mediated mitochondrial DNA damage by sponging miR-17-5p.
Tousled-Like Kinases Suppress Innate Immune Signaling Triggered by Alternative Lengthening of Telomeres.
Title: Tousled-Like Kinases Suppress Innate Immune Signaling Triggered by Alternative Lengthening of Telomeres.
Knockdown of Tousledlike kinase 1 inhibits survival of glioblastoma multiforme cells.
Title: Knockdown of Tousled‑like kinase 1 inhibits survival of glioblastoma multiforme cells.
The TLK1/Nek1 axis contributes to mitochondrial integrity and apoptosis prevention via phosphorylation of VDAC1.
Title: The TLK1/Nek1 axis contributes to mitochondrial integrity and apoptosis prevention via phosphorylation of VDAC1.

Submit: New GeneRIF Correction See all GeneRIFs (30)

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

EBI GWAS Catalog

Description
Meta-analyses identify 13 loci associated with age at menopause and highlight DNA repair and immune pathways. 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

RH36431 (e-PCR)
- UniSTS:18449

RH103499 (e-PCR)
- UniSTS:97824

WI-18511 (e-PCR)
- UniSTS:42277

D8S2279 (e-PCR)
- UniSTS:473907

SHGC-37354 (e-PCR)
- UniSTS:52546

HSC2NH052 (e-PCR)
- UniSTS:68949

SHGC-37490 (e-PCR)
- UniSTS:68734

D2S2766 (e-PCR)
- UniSTS:48265

RH25360 (e-PCR)
- UniSTS:85714

TLK1_8169 (e-PCR)
- UniSTS:467938

RH65920 (e-PCR)
- UniSTS:69604

D2S2078 (e-PCR)
- UniSTS:12516

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables 3-phosphoinositide-dependent protein kinase activity	IEA Inferred from Electronic Annotation more info
enables AMP-activated protein kinase activity	IEA Inferred from Electronic Annotation more info
enables ATP binding	IDA Inferred from Direct Assay more info	PubMed
enables DNA-dependent protein kinase activity	IEA Inferred from Electronic Annotation more info
enables Rho-dependent protein serine/threonine kinase activity	IEA Inferred from Electronic Annotation more info
enables eukaryotic translation initiation factor 2alpha kinase activity	IEA Inferred from Electronic Annotation more info
enables histone H2AS1 kinase activity	IEA Inferred from Electronic Annotation more info
enables histone H2AS121 kinase activity	IEA Inferred from Electronic Annotation more info
enables histone H2AT120 kinase activity	IEA Inferred from Electronic Annotation more info
enables histone H2AXS139 kinase activity	IEA Inferred from Electronic Annotation more info
enables histone H2BS14 kinase activity	IEA Inferred from Electronic Annotation more info
enables histone H2BS36 kinase activity	IEA Inferred from Electronic Annotation more info
enables histone H3S10 kinase activity	IEA Inferred from Electronic Annotation more info
enables histone H3S28 kinase activity	IEA Inferred from Electronic Annotation more info
enables histone H3S57 kinase activity	IEA Inferred from Electronic Annotation more info
enables histone H3T11 kinase activity	IEA Inferred from Electronic Annotation more info
enables histone H3T3 kinase activity	IEA Inferred from Electronic Annotation more info
enables histone H3T45 kinase activity	IEA Inferred from Electronic Annotation more info
enables histone H3T6 kinase activity	IEA Inferred from Electronic Annotation more info
enables histone H4S1 kinase activity	IEA Inferred from Electronic Annotation more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein serine kinase activity	IEA Inferred from Electronic Annotation more info
enables protein serine/threonine kinase activity	IBA Inferred from Biological aspect of Ancestor more info
enables protein serine/threonine kinase activity	IDA Inferred from Direct Assay more info	PubMed
enables protein serine/threonine kinase activity	TAS Traceable Author Statement more info	PubMed
enables ribosomal protein S6 kinase activity	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
involved_in DNA damage response	IEA Inferred from Electronic Annotation more info
involved_in chromatin remodeling	IEA Inferred from Electronic Annotation more info
involved_in chromosome segregation	IBA Inferred from Biological aspect of Ancestor more info
involved_in intracellular protein transport	IDA Inferred from Direct Assay more info	PubMed
involved_in intracellular signal transduction	IBA Inferred from Biological aspect of Ancestor more info
involved_in intracellular signal transduction	IDA Inferred from Direct Assay more info	PubMed
involved_in protein phosphorylation	IDA Inferred from Direct Assay more info	PubMed
involved_in regulation of chromatin organization	IDA Inferred from Direct Assay more info	PubMed

Component	Evidence Code	Pubs
located_in nucleoplasm	IDA Inferred from Direct Assay more info
is_active_in nucleus	IBA Inferred from Biological aspect of Ancestor more info
located_in nucleus	IDA Inferred from Direct Assay more info	PubMed
located_in nucleus	TAS Traceable Author Statement more info	PubMed

General protein information

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Preferred Names: serine/threonine-protein kinase tousled-like 1

Names: SNARE protein kinase SNAK; serine threonine protein kinase

NP_001130026.1

EC 2.7.11.1

NP_001130027.1

EC 2.7.11.1

NP_036422.3

EC 2.7.11.1

XP_011510540.1

EC 2.7.11.1

XP_016860911.1

EC 2.7.11.1

XP_047302486.1

EC 2.7.11.1

XP_054200743.1

EC 2.7.11.1

XP_054200744.1

EC 2.7.11.1

XP_054200745.1

EC 2.7.11.1

XP_054200746.1

EC 2.7.11.1

XP_054200747.1

EC 2.7.11.1

XP_054200748.1

EC 2.7.11.1

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)

NM_001136554.2 → NP_001130026.1 serine/threonine-protein kinase tousled-like 1 isoform 2

See identical proteins and their annotated locations for NP_001130026.1

Status: REVIEWED

Description

Transcript Variant: This variant (2) differs in the 5' UTR and coding region, and uses a downstream start codon, compared to variant 1, resulting in a shorter protein (isoform 2).

Source sequence(s)

AC010092, AK090779, DA144429, DN604386

Consensus CDS

CCDS46447.1

UniProtKB/TrEMBL

A8K8Z3

Related

ENSP00000428113.1, ENST00000521943.5

Conserved Domains (1) summary

cd14040
Location:401 → 699

STKc_TLK1; Catalytic domain of the Serine/Threonine kinase, Tousled-Like Kinase 1
NM_001136555.2 → NP_001130027.1 serine/threonine-protein kinase tousled-like 1 isoform 3

See identical proteins and their annotated locations for NP_001130027.1

Status: REVIEWED

Description

Transcript Variant: This variant (3) differs in the 5' UTR and coding region, and uses a downstream start codon, compared to variant 1, resulting in a shorter protein (isoform 3).

Source sequence(s)

AC009953, AC010092, AK301857, DN604386

Consensus CDS

CCDS46448.1

UniProtKB/TrEMBL

A8K8Z3

Related

ENSP00000409222.2, ENST00000434911.6

Conserved Domains (1) summary

cd14040
Location:353 → 651

STKc_TLK1; Catalytic domain of the Serine/Threonine kinase, Tousled-Like Kinase 1
NM_012290.5 → NP_036422.3 serine/threonine-protein kinase tousled-like 1 isoform 1

See identical proteins and their annotated locations for NP_036422.3

Status: REVIEWED

Description

Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).

Source sequence(s)

AC009953, AC010092, BC032657, DN604386

Consensus CDS

CCDS2241.1

UniProtKB/Swiss-Prot

B3KR15, B4DX87, Q14150, Q8N591, Q9NYH2, Q9UKI8, Q9Y4F6

UniProtKB/TrEMBL

A8K8Z3

Related

ENSP00000411099.2, ENST00000431350.7

Conserved Domains (2) summary

COG1196
Location:209 → 454

Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]

cd14040
Location:449 → 747

STKc_TLK1; Catalytic domain of the Serine/Threonine kinase, Tousled-Like Kinase 1

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

NC_000002.12 Reference GRCh38.p14 Primary Assembly

Range

170990823..171231293 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_017005422.3 → XP_016860911.1 serine/threonine-protein kinase tousled-like 1 isoform X2

UniProtKB/Swiss-Prot

Q9UKI8

Conserved Domains (1) summary

cd14040
Location:232 → 530

STKc_TLK1; Catalytic domain of the Serine/Threonine kinase, Tousled-Like Kinase 1
XM_011512238.4 → XP_011510540.1 serine/threonine-protein kinase tousled-like 1 isoform X1

UniProtKB/TrEMBL

A8K8Z3

Conserved Domains (2) summary

cd14040
Location:386 → 684

STKc_TLK1; Catalytic domain of the Serine/Threonine kinase, Tousled-Like Kinase 1

cl25732
Location:210 → 376

SMC_N; RecF/RecN/SMC N terminal domain
XM_047446530.1 → XP_047302486.1 serine/threonine-protein kinase tousled-like 1 isoform X3

UniProtKB/TrEMBL

B3KRP1

Related

ENSP00000387313.2, ENST00000409443.6

Alternate T2T-CHM13v2.0

Genomic

NC_060926.1 Alternate T2T-CHM13v2.0

Range

171467942..171708444 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_054344769.1 → XP_054200744.1 serine/threonine-protein kinase tousled-like 1 isoform X2
XM_054344768.1 → XP_054200743.1 serine/threonine-protein kinase tousled-like 1 isoform X1
XM_054344772.1 → XP_054200747.1 serine/threonine-protein kinase tousled-like 1 isoform X2
XM_054344770.1 → XP_054200745.1 serine/threonine-protein kinase tousled-like 1 isoform X2
XM_054344771.1 → XP_054200746.1 serine/threonine-protein kinase tousled-like 1 isoform X2
XM_054344773.1 → XP_054200748.1 serine/threonine-protein kinase tousled-like 1 isoform X3

UniProtKB/TrEMBL

B3KRP1