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

    Gene ID: 283629, updated on 2-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 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?
    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)

    Genotypes

    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 ATP binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables ATP binding ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    enables histone H2AS1 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
    		  
    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 intracellular signal transduction IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in peptidyl-serine phosphorylation IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in peptidyl-threonine autophosphorylation 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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