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

Gene ID: 9874, updated on 10-Oct-2024

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
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Genomic context

See TLK1 in Genome Data Viewer
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_000002.12Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12094 Neighboring gene golgi reassembly stacking protein 2 Neighboring gene uncharacterized LOC124906091 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12095 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12096 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr2:171833995-171834551 Neighboring gene OCT4-NANOG-H3K4me1 hESC enhancer GRCh37_chr2:171840298-171840798 Neighboring gene OCT4-NANOG-H3K4me1 hESC enhancer GRCh37_chr2:171840799-171841299 Neighboring gene NANOG hESC enhancer GRCh37_chr2:171902444-171902951 Neighboring gene NANOG hESC enhancer GRCh37_chr2:171959352-171959858 Neighboring gene uncharacterized LOC124906092 Neighboring gene uncharacterized LOC124906168 Neighboring gene H3K27ac hESC enhancer GRCh37_chr2:172016575-172017219 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12099 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16745 Neighboring gene ReSE screen-validated silencer GRCh37_chr2:172041073-172041277 Neighboring gene ReSE screen-validated silencer GRCh37_chr2:172061168-172061341 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr2:172100813-172102012 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 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

EBI GWAS Catalog

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

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Clone Names

  • KIAA0137

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables ATP binding IDA
Inferred from Direct Assay
more info
PubMed 
enables histone H2AS1 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 
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

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_047302486.1
XP_054200743.1
XP_054200744.1
XP_054200745.1
XP_054200746.1
XP_054200747.1
XP_054200748.1

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_001136554.2NP_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:401699
    STKc_TLK1; Catalytic domain of the Serine/Threonine kinase, Tousled-Like Kinase 1
  2. NM_001136555.2NP_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:353651
    STKc_TLK1; Catalytic domain of the Serine/Threonine kinase, Tousled-Like Kinase 1
  3. NM_012290.5NP_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:209454
    Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]
    cd14040
    Location:449747
    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

  1. NC_000002.12 Reference GRCh38.p14 Primary Assembly

    Range
    170990823..171231293 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017005422.3XP_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_011512238.4XP_011510540.1  serine/threonine-protein kinase tousled-like 1 isoform X1

    UniProtKB/TrEMBL
    A8K8Z3
    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
  3. XM_047446530.1XP_047302486.1  serine/threonine-protein kinase tousled-like 1 isoform X3

    UniProtKB/TrEMBL
    B3KRP1
    Related
    ENSP00000387313.2, ENST00000409443.6

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060926.1 Alternate T2T-CHM13v2.0

    Range
    171467942..171708444 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054344769.1XP_054200744.1  serine/threonine-protein kinase tousled-like 1 isoform X2

  2. XM_054344768.1XP_054200743.1  serine/threonine-protein kinase tousled-like 1 isoform X1

  3. XM_054344772.1XP_054200747.1  serine/threonine-protein kinase tousled-like 1 isoform X2

  4. XM_054344770.1XP_054200745.1  serine/threonine-protein kinase tousled-like 1 isoform X2

  5. XM_054344771.1XP_054200746.1  serine/threonine-protein kinase tousled-like 1 isoform X2

  6. XM_054344773.1XP_054200748.1  serine/threonine-protein kinase tousled-like 1 isoform X3

    UniProtKB/TrEMBL
    B3KRP1