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

Gene ID: 9874, updated on 5-Aug-2018

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; Vega:OTTHUMG00000132243
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

Genomic context

See TLK1 in Genome Data Viewer
Location:
2q31.1
Exon count:
26
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 2 NC_000002.12 (170990823..171231314, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (171847333..172087824, complement)

Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene glutamate decarboxylase 1 Neighboring gene golgi reassembly stacking protein 2 Neighboring gene uncharacterized protein C9orf85-like Neighboring gene uncharacterized LOC107983995 Neighboring gene uncharacterized LOC105373737 Neighboring gene small integral membrane protein 26-like

Genomic regions, transcripts, and products

Expression

  • 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 Jun 15 11:32:44 2016

Bibliography

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Phenotypes

NHGRI GWAS Catalog

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

Pathways from BioSystems

  • ATM Signaling Pathway, organism-specific biosystem (from WikiPathways)
    ATM Signaling Pathway, organism-specific biosystemAtaxia-telangiectasia (A-T) is a highly pleiotropic, autosomal recessive disease that leads to multisystem defects and has an intricate cellular phenotype, all linked to the functional inactivation o...
  • DNA Damage Response, organism-specific biosystem (from WikiPathways)
    DNA Damage Response, organism-specific biosystemThis is the first pathway out of two pathways which deals with DNA damage response. It has two central gene products (ATM and ATR) which are connected to the sources of DNA damage (in blue). The two ...
  • Pathways Affected in Adenoid Cystic Carcinoma, organism-specific biosystem (from WikiPathways)
    Pathways Affected in Adenoid Cystic Carcinoma, organism-specific biosystemProtein pathways altered by mutations in adenoid cystic carcinoma. Pathways include epigentic modification, DNA damage checkpoint signals, MYB/MYC signalling pathway, FGF/IGF/PI3K signalling, and not...
  • miRNA Regulation of DNA Damage Response, organism-specific biosystem (from WikiPathways)
    miRNA Regulation of DNA Damage Response, organism-specific biosystemThis is the first out of two pathways which deals with the DNA damage response. It is comprised of two central gene products (ATM and ATR) influenced by different sources of DNA damage (in blue). The...

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • KIAA0137

Gene Ontology Provided by GOA

Function Evidence Code Pubs
ATP binding IDA
Inferred from Direct Assay
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein serine/threonine kinase activity IDA
Inferred from Direct Assay
more info
PubMed 
protein serine/threonine kinase activity TAS
Traceable Author Statement
more info
PubMed 
Process Evidence Code Pubs
cell cycle IEA
Inferred from Electronic Annotation
more info
 
cellular response to DNA damage stimulus IEA
Inferred from Electronic Annotation
more info
 
chromatin organization IEA
Inferred from Electronic Annotation
more info
 
intracellular protein transport IDA
Inferred from Direct Assay
more info
PubMed 
intracellular signal transduction IDA
Inferred from Direct Assay
more info
PubMed 
protein phosphorylation IDA
Inferred from Direct Assay
more info
PubMed 
regulation of chromatin assembly or disassembly IDA
Inferred from Direct Assay
more info
PubMed 
Component Evidence Code Pubs
nucleus IDA
Inferred from Direct Assay
more info
PubMed 
nucleus TAS
Traceable Author Statement
more info
PubMed 

General protein information

Preferred Names
serine/threonine-protein kinase tousled-like 1
Names
SNARE protein kinase SNAK
serine threonine protein kinase
NP_001130026.1
NP_001130027.1
NP_036422.3
XP_011510540.1
XP_016860911.1
XP_024309029.1
XP_024309030.1

NCBI Reference Sequences (RefSeq)

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_001136554.1NP_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/Swiss-Prot
    Q9UKI8
    Related
    ENSP00000428113.1, OTTHUMP00000225037, ENST00000521943.5, OTTHUMT00000375765
    Conserved Domains (1) summary
    cd14040
    Location:401699
    STKc_TLK1; Catalytic domain of the Serine/Threonine kinase, Tousled-Like Kinase 1
  2. NM_001136555.1NP_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/Swiss-Prot
    Q9UKI8
    Related
    ENSP00000409222.2, OTTHUMP00000205037, ENST00000434911.6, OTTHUMT00000333808
    Conserved Domains (1) summary
    cd14040
    Location:353651
    STKc_TLK1; Catalytic domain of the Serine/Threonine kinase, Tousled-Like Kinase 1
  3. NM_012290.4NP_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
    Q9UKI8
    Related
    ENSP00000411099.2, OTTHUMP00000163076, ENST00000431350.6, OTTHUMT00000255314
    Conserved Domains (2) summary
    cd14040
    Location:449747
    STKc_TLK1; Catalytic domain of the Serine/Threonine kinase, Tousled-Like Kinase 1
    cl25732
    Location:209454
    SMC_N; RecF/RecN/SMC N terminal domain

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000002.12 Reference GRCh38.p12 Primary Assembly

    Range
    170990823..171231314 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017005422.2XP_016860911.1  serine/threonine-protein kinase tousled-like 1 isoform X2

    UniProtKB/Swiss-Prot
    Q9UKI8
    Conserved Domains (1) summary
    cd14040
    Location:232530
    STKc_TLK1; Catalytic domain of the Serine/Threonine kinase, Tousled-Like Kinase 1
  2. XM_024453261.1XP_024309029.1  serine/threonine-protein kinase tousled-like 1 isoform X2

    Conserved Domains (1) summary
    cd14040
    Location:232530
    STKc_TLK1; Catalytic domain of the Serine/Threonine kinase, Tousled-Like Kinase 1
  3. XM_024453262.1XP_024309030.1  serine/threonine-protein kinase tousled-like 1 isoform X2

    Conserved Domains (1) summary
    cd14040
    Location:232530
    STKc_TLK1; Catalytic domain of the Serine/Threonine kinase, Tousled-Like Kinase 1
  4. XM_011512238.3XP_011510540.1  serine/threonine-protein kinase tousled-like 1 isoform X1

    Conserved Domains (2) summary
    cd14040
    Location:386684
    STKc_TLK1; Catalytic domain of the Serine/Threonine kinase, Tousled-Like Kinase 1
    cl25732
    Location:210376
    SMC_N; RecF/RecN/SMC N terminal domain

RNA

  1. XR_001739085.2 RNA Sequence

    Related
    ENST00000359766.7
  2. XR_001739084.2 RNA Sequence

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