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TSSK4 testis specific serine kinase 4 [ Homo sapiens (human) ]

Gene ID: 283629, updated on 27-Nov-2024

Summary

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Official Symbol
TSSK4provided by HGNC
Official Full Name
testis specific serine kinase 4provided by HGNC
Primary source
HGNC:HGNC:19825
See related
Ensembl:ENSG00000139908 MIM:610711; AllianceGenome:HGNC:19825
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
TSK4; TSK-4; TSSK5; STK22E; C14orf20
Summary
This gene encodes a member of the testis-specific serine/threonine kinase family. The encoded protein is thought to be involved in spermatogenesis via stimulation of the CREB/CRE responsive pathway through phosphorylation of the cAMP responsive element binding protein transcription factor. Alternative splicing results in multiple transcript variants.[provided by RefSeq, May 2010]
Expression
Broad expression in testis (RPKM 10.7), spleen (RPKM 1.5) and 18 other tissues See more
Orthologs
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Genomic context

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See TSSK4 in Genome Data Viewer
Location:
14q12
Exon count:
4
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 14 NC_000014.9 (24205696..24208248)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 14 NC_060938.1 (18404042..18406594)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 14 NC_000014.8 (24674902..24677454)

Chromosome 14 - NC_000014.9Genomic Context describing neighboring genes Neighboring gene REC8 meiotic recombination protein Neighboring gene importin 4 Neighboring gene ReSE screen-validated silencer GRCh37_chr14:24657018-24657228 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5630 Neighboring gene transmembrane 9 superfamily member 1 Neighboring gene H3K27ac hESC enhancer GRCh37_chr14:24664227-24664926 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8194 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8195 Neighboring gene H3K27ac hESC enhancer GRCh37_chr14:24669563-24670500 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr14:24671230-24672429 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr14:24672535-24673433 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr14:24682177-24682985 Neighboring gene charged multivesicular body protein 4A Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr14:24683998-24684736 Neighboring gene NEDD8-MDP1 readthrough Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8198 Neighboring gene magnesium dependent phosphatase 1

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • 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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Related articles in PubMed

  1. Testis specific serine/threonine protein kinase 4 (TSSK4) leads to cell apoptosis relying on its kinase activity. Wang XL, et al. J Huazhong Univ Sci Technolog Med Sci, 2015 Apr. PMID 25877358
  2. Mutation screening and association study of the TSSK4 Gene in Chinese infertile men with impaired spermatogenesis. Su D, et al. J Androl, 2008 Jul-Aug. PMID 18390560
  3. DAZL binds to the transcripts of several Tssk genes in germ cells. Zeng M, et al. BMB Rep, 2008 Apr 30. PMID 18452650
  4. TSSK5, a novel member of the testis-specific serine/threonine kinase family, phosphorylates CREB at Ser-133, and stimulates the CRE/CREB responsive pathway. Chen X, et al. Biochem Biophys Res Commun, 2005 Aug 5. PMID 15964553
  5. Tssk4 is essential for maintaining the structural integrity of sperm flagellum. Wang X, et al. Mol Hum Reprod, 2015 Feb. PMID 25361759

See all (14) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. TSSK4 was able to induce cell apoptosis in vitro depending on its kinase activity, which leads to abnormal testes weight and apoptosis, shedding light on its function in the process of spermatogenesis and/or spermiogenesis
    Title: Testis specific serine/threonine protein kinase 4 (TSSK4) leads to cell apoptosis relying on its kinase activity.
  2. association of some single nucleotide polymorphisms in TSSK4 with male infertility.
    Title: Mutation screening and association study of the TSSK4 Gene in Chinese infertile men with impaired spermatogenesis.
  3. Observational study of gene-disease association. (HuGE Navigator)
    Title: Evaluation of 172 candidate polymorphisms for association with oligozoospermia or azoospermia in a large cohort of men of European descent.
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

Homology

Clone Names

  • MGC133264

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 ATP binding ISS
Inferred from Sequence or Structural Similarity
more info
  
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 magnesium ion binding IDA
Inferred from Direct Assay
more info
 PubMed 
enables magnesium ion binding ISS
Inferred from Sequence or Structural Similarity
more info
  
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
enables protein homodimerization activity 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 kinase activity IDA
Inferred from Direct Assay
more info
 PubMed 
enables protein serine/threonine kinase activity ISS
Inferred from Sequence or Structural Similarity
more info
  
enables protein-containing complex binding IEA
Inferred from Electronic Annotation
more info
  
enables ribosomal protein S6 kinase activity IEA
Inferred from Electronic Annotation
more info
  
Process Evidence Code Pubs
involved_in chromatin remodeling IEA
Inferred from Electronic Annotation
more info
  
involved_in fertilization IEA
Inferred from Electronic Annotation
more info
  
involved_in flagellated sperm motility IEA
Inferred from Electronic Annotation
more info
  
involved_in positive regulation of CREB transcription factor activity IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in protein phosphorylation IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in protein phosphorylation ISS
Inferred from Sequence or Structural Similarity
more info
  
involved_in spermatid development IEA
Inferred from Electronic Annotation
more info
  
Component Evidence Code Pubs
located_in acrosomal vesicle IEA
Inferred from Electronic Annotation
more info
  
located_in sperm flagellum IEA
Inferred from Electronic Annotation
more info
  

General protein information

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Preferred Names
testis-specific serine/threonine-protein kinase 4
Names
serine/threonine kinase 22E
serine/threonine-protein kinase 22E
NP_001171668.1
NP_001294996.1
NP_777604.2
XP_011534965.1
XP_024305310.1
XP_054188313.1
XP_054188314.1
XP_054231860.1
XP_054231861.1

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_001184739.2 → NP_001171668.1  testis-specific serine/threonine-protein kinase 4 isoform 1

    See identical proteins and their annotated locations for NP_001171668.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).
    Source sequence(s)
    AK131042, AL136295, AY461663
    Consensus CDS
    CCDS53890.1
    UniProtKB/Swiss-Prot
    Q6SA08
    Related
    ENSP00000339179.5, ENST00000339917.10
    Conserved Domains (2) summary
    smart00220
    Location:25 → 303
    S_TKc; Serine/Threonine protein kinases, catalytic domain
    cd14162
    Location:24 → 303
    STKc_TSSK4-like; Catalytic domain of testis-specific serine/threonine kinase 4 and similar proteins

  2. NM_001308067.2 → NP_001294996.1  testis-specific serine/threonine-protein kinase 4 isoform 3

    See identical proteins and their annotated locations for NP_001294996.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) uses an alternate in-frame splice site at an internal exon and uses an alternate 5'-terminal exon, which results in use of a downstream start codon compared to variant 1. It encodes isoform 3, which has a shorter N-terminus and lacks an internal portion of the coding region compared to isoform 1.
    Source sequence(s)
    BC111088, BI825382, HY040551
    Consensus CDS
    CCDS76662.1
    UniProtKB/Swiss-Prot
    Q6SA08
    Related
    ENSP00000452054.1, ENST00000556621.5
    Conserved Domains (1) summary
    cl21453
    Location:1 → 217
    PKc_like; Protein Kinases, catalytic domain

  3. NM_174944.4 → NP_777604.2  testis-specific serine/threonine-protein kinase 4 isoform 2

    See identical proteins and their annotated locations for NP_777604.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) uses an alternate in-frame splice site in the coding region, compared to variant 1. The resulting protein (isoform 2) lacks 10 internal amino acids, compared to isoform 1.
    Source sequence(s)
    AK131042, AL136295, AY461663
    Consensus CDS
    CCDS9618.1
    UniProtKB/Swiss-Prot
    Q2TA60, Q6SA08, Q6ZNM2
    Related
    ENSP00000287913.6, ENST00000287913.10
    Conserved Domains (2) summary
    smart00220
    Location:25 → 293
    S_TKc; Serine/Threonine protein kinases, catalytic domain
    cd14162
    Location:24 → 293
    STKc_TSSK4-like; Catalytic domain of testis-specific serine/threonine kinase 4 and similar proteins

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_000014.9 Reference GRCh38.p14 Primary Assembly

    Range
    24205696..24208248
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_024449542.2 → XP_024305310.1  testis-specific serine/threonine-protein kinase 4 isoform X1

    Conserved Domains (1) summary
    cl21453
    Location:24 → 278
    PKc_like; Protein Kinases, catalytic domain

  2. XM_011536663.3 → XP_011534965.1  testis-specific serine/threonine-protein kinase 4 isoform X2

    Conserved Domains (2) summary
    smart00220
    Location:1 → 227
    S_TKc; Serine/Threonine protein kinases, catalytic domain
    cl21453
    Location:1 → 227
    PKc_like; Protein Kinases, catalytic domain

Reference GRCh38.p14 PATCHES

Genomic

  1. NW_018654722.1 Reference GRCh38.p14 PATCHES

    Range
    506674..509226
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054332338.1 → XP_054188313.1  testis-specific serine/threonine-protein kinase 4 isoform X1

  2. XM_054332339.1 → XP_054188314.1  testis-specific serine/threonine-protein kinase 4 isoform X2

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060938.1 Alternate T2T-CHM13v2.0

    Range
    18404042..18406594
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054375885.1 → XP_054231860.1  testis-specific serine/threonine-protein kinase 4 isoform X1

  2. XM_054375886.1 → XP_054231861.1  testis-specific serine/threonine-protein kinase 4 isoform X2

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q6SA08.1 GenPept UniProtKB/Swiss-Prot:Q6SA08

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