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    TSSK4 testis-specific serine kinase 4 [ Homo sapiens ]

    Gene ID: 283629, updated on 11-May-2012
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    Summary

    Official Symbol
    TSSK4provided by HGNC
    Official Full Name
    testis-specific serine kinase 4provided by HGNC
    Primary source
    HGNC:19825
    See related
    Ensembl:ENSG00000139908; HPRD:12642; MIM:610711; Vega:OTTHUMG00000029323
    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; MGC133264
    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]
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    Genomic context

    Location :
    14q12
    Sequence :
    Chromosome: 14; NC_000014.8 (24674926..24677454)
    See TSSK4 in Epigenomics, MapViewer

    Chromosome 14 - NC_000014.8Genomic Context describing neighboring genes Neighboring gene REC8 homolog (yeast) Neighboring gene importin 4 Neighboring gene transmembrane 9 superfamily member 1 Neighboring gene charged multivesicular body protein 4A Neighboring gene NEDD8-MDP1 readthrough Neighboring gene magnesium-dependent phosphatase 1

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    Genomic regions, transcripts, and products

    Go to nucleotideGraphics FASTA GenBank

    Go to reference sequence details
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    Bibliography

    Related articles in PubMed

    1. Evaluation of 172 candidate polymorphisms for association with oligozoospermia or azoospermia in a large cohort of men of European descent. Aston KI, et al. Hum Reprod, 2010 Jun. PMID 20378615.
    2. DAZL binds to the transcripts of several Tssk genes in germ cells. Zeng M, et al. BMB Rep, 2008 Apr 30. PMID 18452650.
    3. 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.
    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. High-throughput mapping of a dynamic signaling network in mammalian cells. Barrios-Rodiles M, et al. Science, 2005 Mar 11. PMID 15761153.

    See all (8) citations in PubMed

    See citations in PubMed for homologs of this gene provided by HomoloGene

    GeneRIFs: Gene References Into Functions What's a GeneRIF?

    1. 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.
    2. 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
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    Phenotypes

    Review eQTL and phenotype association data in this region using PheGenI

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    Interactions

    Products Interactant Other Gene Complex Source Pubs Description
    Q6SA08 P16220 CREB1    HPRD  PubMed  
    Q6SA08 Q9HAU4 SMURF2    HPRD  PubMed  
    Q6SA08 P36897 TGFBR1    HPRD  PubMed  
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    General gene information

    Markers

    Genotypes

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    ATP binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    ATP binding ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    magnesium ion binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    magnesium ion binding ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    nucleotide binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    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 ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    Process Evidence Code Pubs
    cell differentiation IEA
    Inferred from Electronic Annotation
    more info
    		  
    multicellular organismal development IEA
    Inferred from Electronic Annotation
    more info
    		  
    positive regulation of CREB transcription factor activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    protein phosphorylation IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    protein phosphorylation ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    spermatogenesis IEA
    Inferred from Electronic Annotation
    more info
    		  
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    General protein information

    Preferred Names
    testis-specific serine/threonine-protein kinase 4
    Names
    testis-specific serine/threonine-protein kinase 4
    serine/threonine kinase 22E
    serine/threonine-protein kinase 22E
    NP_001171668.1
    NP_777604.2
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    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_001184739.1 → NP_001171668.1  testis-specific serine/threonine-protein kinase 4 isoform 1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
      Source sequence(s)
      AK131042, AL136295, AY461663
      Consensus CDS
      CCDS53890.1
      UniProtKB/Swiss-Prot
      Q6SA08
      Related
      ENSP00000339179, OTTHUMP00000164704, ENST00000339917, OTTHUMT00000073140
      Conserved Domains (2) summary
      smart00220
      Location:25 – 303
      Blast Score: 601
      S_TKc; Serine/Threonine protein kinases, catalytic domain
      cl09925
      Location:25 – 299
      Blast Score: 473
      PKc_like; Protein Kinases, catalytic domain

    2. NM_174944.3 → NP_777604.2  testis-specific serine/threonine-protein kinase 4 isoform 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, AY461663
      Consensus CDS
      CCDS9618.1
      UniProtKB/Swiss-Prot
      Q6SA08
      Related
      ENSP00000287913, OTTHUMP00000028170, ENST00000287913, OTTHUMT00000073139
      Conserved Domains (2) summary
      smart00220
      Location:25 – 293
      Blast Score: 620
      S_TKc; Serine/Threonine protein kinases, catalytic domain
      cl09925
      Location:25 – 289
      Blast Score: 493
      PKc_like; Protein Kinases, catalytic domain

    RefSeqs of Annotated Genomes: Build 37.3

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

    Reference GRCh37.p5 Primary Assembly

    Genomic

    1. NC_000014.8 Reference GRCh37.p5 Primary Assembly

      Range
      24674926..24677454
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate HuRef

    Genomic

    1. AC_000146.1 Alternate HuRef

      Range
      4789934..4792462
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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    Related Sequences

    Nucleotide Protein
    Heading Accession and Version
    genomic AL136295.3 (1787..4279) None
    genomic CH471078.2 EAW66069.1
      EAW66070.1
      EAW66071.1
    mRNA AF542390.1 AAN62841.1
    mRNA AK131042.1 BAC85482.1
    mRNA AY461663.1 AAS17971.1
    mRNA BC029918.1 None
    mRNA BC111088.1 AAI11089.1
    other-genetic AB528011.1 BAI46175.1
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q6SA08.1 GenPept UniProtKB/Swiss-Prot:Q6SA08
    Q8IZN1 GenPept UniProtKB/TrEMBL:Q8IZN1
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    Additional Links

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

    Chemical Information
    Molecular Biology Databases
    Research Materials
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