TESK1 testis associated actin remodelling kinase 1 [Homo sapiens (human)] - Gene

Summary

Official Symbol: TESK1provided by HGNC
Official Full Name: testis associated actin remodelling kinase 1provided by HGNC
Primary source: HGNC:HGNC:11731
See related: Ensembl:ENSG00000107140 MIM:601782; AllianceGenome:HGNC:11731
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
Summary: This gene product is a serine/threonine protein kinase that contains an N-terminal protein kinase domain and a C-terminal proline-rich domain. Its protein kinase domain is most closely related to those of the LIM motif-containing protein kinases (LIMKs). The encoded protein can phosphorylate myelin basic protein and histone in vitro. The testicular germ cell-specific expression and developmental pattern of expression of the mouse gene suggests that this gene plays an important role at and after the meiotic phase of spermatogenesis. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Dec 2015]
Expression: Ubiquitous expression in fat (RPKM 24.9), testis (RPKM 24.6) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 9p13.3

Exon count:: 10

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	9	NC_000009.12 (35605262..35610033)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	9	NC_060933.1 (35625926..35630697)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	9	NC_000009.11 (35605259..35610030)

Chromosome 9 - NC_000009.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: Tissue-specific circular RNA induction during human fetal development
Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
BioProject: PRJNA270632
Publication: PMID 26076956
Analysis date: Mon Apr 2 22:54:59 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

In conclusion, deregulation of cytoskeleton dynamics through TESK1/CFL1 pathway underlies epithelial intestinal dysfunction in the small bowel mucosa of diarrhea-predominant irritable bowel syndrome, particularly in female patients.
Title: Decreased TESK1-mediated cofilin 1 phosphorylation in the jejunum of IBS-D patients may explain increased female predisposition to epithelial dysfunction.
Actin remodelling factor TESK1 is a key player in the ciliogenesis control network in which YAP/TAZ and directional vesicle trafficking are integral components.
Title: Actin remodelling factors control ciliogenesis by regulating YAP/TAZ activity and vesicle trafficking.
Observational study of gene-disease association. (HuGE Navigator)
Title: New genetic associations detected in a host response study to hepatitis B vaccine.
enhanced TESK1 activity results in increased stress fibers (via phospho-cofilin), but this can be blocked by elevating Spred1
Title: Spred1 and TESK1--two new interaction partners of the kinase MARKK/TAO1 that link the microtubule and actin cytoskeleton.
the association between actopaxin and TESK1, which is likely regulated by phosphorylation of actopaxin, regulates TESK1 activity and subsequent cellular spreading on fibronectin
Title: Actopaxin interacts with TESK1 to regulate cell spreading on fibronectin.

Submit: New GeneRIF Correction

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

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

RH26484 (e-PCR)
- UniSTS:84738

D11S4618 (e-PCR)
- UniSTS:69896

TESK1-1 (e-PCR)
- UniSTS:513744

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables ATP binding	IEA Inferred from Electronic Annotation more info
enables histone H2AXY142 kinase activity	IEA Inferred from Electronic Annotation more info
enables histone H3Y41 kinase activity	IEA Inferred from Electronic Annotation more info
enables metal ion binding	IEA Inferred from Electronic Annotation more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein kinase activity	IMP Inferred from Mutant Phenotype more info	PubMed
enables protein kinase activity	ISS Inferred from Sequence or Structural Similarity more info
enables protein kinase binding	IEA Inferred from Electronic Annotation more info
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/tyrosine kinase activity	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
involved_in actin cytoskeleton organization	IBA Inferred from Biological aspect of Ancestor more info
involved_in chromatin remodeling	IEA Inferred from Electronic Annotation more info
involved_in establishment of vesicle localization	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in negative regulation of cilium assembly	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in negative regulation of protein autophosphorylation	ISS Inferred from Sequence or Structural Similarity more info	PubMed
involved_in negative regulation of protein serine/threonine kinase activity	ISS Inferred from Sequence or Structural Similarity more info	PubMed
involved_in nuclear-transcribed mRNA catabolic process, no-go decay	ISS Inferred from Sequence or Structural Similarity more info
involved_in podocyte cell migration	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of protein localization to nucleus	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of protein phosphorylation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of stress fiber assembly	IBA Inferred from Biological aspect of Ancestor more info
involved_in positive regulation of stress fiber assembly	ISS Inferred from Sequence or Structural Similarity more info	PubMed
involved_in positive regulation of stress fiber assembly	TAS Traceable Author Statement more info	PubMed
involved_in positive regulation of substrate adhesion-dependent cell spreading	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in regulation of actin cytoskeleton organization	ISS Inferred from Sequence or Structural Similarity more info
involved_in regulation of protein localization	ISS Inferred from Sequence or Structural Similarity more info	PubMed
involved_in spermatogenesis	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
located_in centrosome	IDA Inferred from Direct Assay more info	PubMed
is_active_in cytoplasm	IBA Inferred from Biological aspect of Ancestor more info
located_in cytoplasm	IDA Inferred from Direct Assay more info	PubMed
colocalizes_with cytoplasmic vesicle	ISS Inferred from Sequence or Structural Similarity more info	PubMed
located_in cytosol	TAS Traceable Author Statement more info
located_in lamellipodium	IEA Inferred from Electronic Annotation more info
is_active_in nucleus	IBA Inferred from Biological aspect of Ancestor more info
located_in perinuclear region of cytoplasm	ISS Inferred from Sequence or Structural Similarity more info

General protein information

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Preferred Names: dual specificity testis-specific protein kinase 1

Names: testicular protein kinase 1; testis-specific kinase 1

NP_001305159.1

EC 2.7.12.1

NP_006276.2

EC 2.7.12.1

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_001318230.2 → NP_001305159.1 dual specificity testis-specific protein kinase 1 isoform 2

Status: REVIEWED

Description

Transcript Variant: This variant (2) lacks an alternate exon in the coding region and initiates translation at an alternate start codon, compared to variant 1. The encoded isoform (2) has a distinct N-terminus and is shorter than isoform 1.

Source sequence(s)

AL357874, BC011799, BC067130

UniProtKB/Swiss-Prot

Q15569

Related

ENST00000498522.5

Conserved Domains (1) summary

cl21453
Location:46 → 158

PKc_like; Protein Kinases, catalytic domain
NM_006285.3 → NP_006276.2 dual specificity testis-specific protein kinase 1 isoform 1

See identical proteins and their annotated locations for NP_006276.2

Status: REVIEWED

Description

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

Source sequence(s)

AF507907, AL357874, BC067130

Consensus CDS

CCDS6580.1

UniProtKB/Swiss-Prot

Q15569, Q8IXZ8

UniProtKB/TrEMBL

B4DQQ3

Related

ENSP00000338127.5, ENST00000336395.6

Conserved Domains (2) summary

smart00219
Location:61 → 311

TyrKc; Tyrosine kinase, catalytic domain

cd14155
Location:63 → 318

PKc_TESK; Catalytic domain of the Dual-specificity protein kinase, Testicular protein kinase