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    Cep57 centrosomal protein 57 [ Mus musculus (house mouse) ]

    Gene ID: 74360, updated on 5-Mar-2024

    Summary

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    Official Symbol
    Cep57provided by MGI
    Official Full Name
    centrosomal protein 57provided by MGI
    Primary source
    MGI:MGI:1915551
    See related
    Ensembl:ENSMUSG00000031922 AllianceGenome:MGI:1915551
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Mus musculus
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
    Also known as
    Tsp57; mKIAA0092; 3110002L15Rik; 4921510P06Rik; 4931428M20Rik
    Summary
    Enables microtubule binding activity. Involved in protein homooligomerization. Acts upstream of or within spermatid development. Located in centrosome; cytoplasm; and nucleus. Is expressed in midbrain ventricular layer and telencephalon ventricular layer. Human ortholog(s) of this gene implicated in mosaic variegated aneuploidy syndrome 2. Orthologous to human CEP57 (centrosomal protein 57). [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Broad expression in testis adult (RPKM 23.6), CNS E11.5 (RPKM 13.8) and 23 other tissues See more
    Orthologs
    human all
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    Genomic context

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    Location:
    9 A1; 9 3.49 cM
    Exon count:
    12
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 9 NC_000075.7 (13717979..13738698, complement)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 9 NC_000075.6 (13807783..13827407, complement)

    Chromosome 9 - NC_000075.7Genomic Context describing neighboring genes Neighboring gene predicted gene, 39291 Neighboring gene predicted gene, 53498 Neighboring gene myotubularin related protein 2 Neighboring gene STARR-seq mESC enhancer starr_23340 Neighboring gene CapStarr-seq enhancer MGSCv37_chr9:13631030-13631139 Neighboring gene STARR-positive B cell enhancer ABC_E3815 Neighboring gene STARR-positive B cell enhancer ABC_E363 Neighboring gene family with sequence similarity 76, member B Neighboring gene peptidylprolyl isomerase B pseudogene Neighboring gene STARR-seq mESC enhancer starr_23341 Neighboring gene RIKEN cDNA 1700019J19 gene

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: Mouse ENCODE transcriptome data
    • Description: RNA profiling data sets generated by the Mouse ENCODE project.
    • BioProject: PRJNA66167
    • Publication: PMID 25409824
    • Analysis date: n/a

    Bibliography

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    Related articles in PubMed

    1. Mosaic-variegated aneuploidy syndrome mutation or haploinsufficiency in Cep57 impairs tumor suppression. Aziz K, et al. J Clin Invest, 2018 Aug 1. PMID 30035751, Free PMC Article
    2. Cep57, a multidomain protein with unique microtubule and centrosomal localization domains. Momotani K, et al. Biochem J, 2008 Jun 1. PMID 18294141, Free PMC Article
    3. Cep57 protein is required for cytokinesis by facilitating central spindle microtubule organization. He R, et al. J Biol Chem, 2013 May 17. PMID 23569207, Free PMC Article
    4. Pivotal role of translokin/CEP57 in the unconventional secretion versus nuclear translocation of FGF2. Meunier S, et al. Traffic, 2009 Dec. PMID 19804566
    5. Tsp57: a novel gene induced during a specific stage of spermatogenesis. Kim YS, et al. Biol Reprod, 2004 Jan. PMID 12954732

    See all (23) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. This study identifies Cep57 as a haploinsufficient tumor suppressor with biologically diverse roles in centrosome maturation and Fgf2-mediated bone formation.
      Title: Mosaic-variegated aneuploidy syndrome mutation or haploinsufficiency in Cep57 impairs tumor suppression.
    2. Cep57 is essential for cytokinesis via regulation of central spindle assembly and formation of the midbody
      Title: Cep57 protein is required for cytokinesis by facilitating central spindle microtubule organization.
    3. Data suggest that translokin acts as a key negative regulator in the pathway that drives nuclear import of cyclin D1, thus contributing to prevent pRB inactivation and to maintain cellular quiescence.
      Title: Translokin (Cep57) interacts with cyclin D1 and prevents its nuclear accumulation in quiescent fibroblasts.
    4. report the identification of four Translokin partners: sorting nexin 6, Ran-binding protein M and the kinesins KIF3A and KIF3B
      Title: Pivotal role of translokin/CEP57 in the unconventional secretion versus nuclear translocation of FGF2.
    5. Data suggest that Cep57 serves as a link with its N-terminus anchored to the centriole or centromatrix and its C-terminus to microtubules.
      Title: Cep57, a multidomain protein with unique microtubule and centrosomal localization domains.
    6. Tsp57 protein plays a role in the postmeiotic phase of germ cell differentiation
      Title: Tsp57: a novel gene induced during a specific stage of spermatogenesis.
    Submit: New GeneRIF Correction

    Variation

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    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables fibroblast growth factor binding ISO
    Inferred from Sequence Orthology
    more info
    		  
    enables fibroblast growth factor binding ISS
    Inferred from Sequence or Structural Similarity
    more info
    		 PubMed 
    enables gamma-tubulin binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables identical protein binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables microtubule binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables microtubule binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables protein homodimerization activity ISO
    Inferred from Sequence Orthology
    more info
    		  
    enables protein homodimerization activity ISS
    Inferred from Sequence or Structural Similarity
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in fibroblast growth factor receptor signaling pathway ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in fibroblast growth factor receptor signaling pathway ISS
    Inferred from Sequence or Structural Similarity
    more info
    		 PubMed 
    involved_in protein homooligomerization IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    involved_in spermatid development IEP
    Inferred from Expression Pattern
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in Golgi apparatus ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in centriolar satellite ISO
    Inferred from Sequence Orthology
    more info
    		  
    is_active_in centrosome IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in centrosome IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in centrosome ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in cytoplasm IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in cytoskeleton IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in cytosol ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in microtubule ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in microtubule ISS
    Inferred from Sequence or Structural Similarity
    more info
    		 PubMed 
    located_in nucleus IDA
    Inferred from Direct Assay
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    centrosomal protein of 57 kDa
    Names
    testis-specific protein 57
    translokin

    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_001310721.1 → NP_001297650.1  centrosomal protein of 57 kDa isoform 2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) lacks an alternate in-frame exon compared to variant 1. It encodes isoform 2, which is shorter than isoform 1.
      Source sequence(s)
      AK019414, AK028408, AK028458, AK129053, CT010488
      Consensus CDS
      CCDS80955.1
      UniProtKB/TrEMBL
      A0PJD7, B8JJE7
      Related
      ENSMUSP00000116931.2, ENSMUST00000147115.8
      Conserved Domains (2) summary
      pfam06657
      Location:323 → 393
      Cep57_MT_bd; Centrosome microtubule-binding domain of Cep57
      pfam14073
      Location:68 → 245
      Cep57_CLD; Centrosome localization domain of Cep57

    2. NM_026665.4 → NP_080941.3  centrosomal protein of 57 kDa isoform 1

      See identical proteins and their annotated locations for NP_080941.3

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) encodes the longer isoform (1).
      Source sequence(s)
      AK028458, AK129053, BB846596, BC050785
      Consensus CDS
      CCDS52724.1
      UniProtKB/Swiss-Prot
      B8JJE6, Q6ZQJ3, Q7TN18, Q80X65, Q810F2, Q8CEE0, Q9D4J4, Q9D5S4, Q9D5W5
      UniProtKB/TrEMBL
      A0PJD7
      Related
      ENSMUSP00000034398.6, ENSMUST00000034398.12
      Conserved Domains (2) summary
      pfam06657
      Location:349 → 419
      Cep57_MT_bd; Centrosome microtubule-binding domain of Cep57
      pfam14073
      Location:68 → 245
      Cep57_CLD; Centrosome localization domain of Cep57

    RNA

    1. NR_037622.1 RNA Sequence

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) uses a different splice site and is represented as non-coding due to the presence of an upstream ORF that is predicted to interfere with translation of the longest ORF; translation of the upstream ORF renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      AK016484, AK028458, BC030353

    RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

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

    Reference GRCm39 C57BL/6J

    Genomic

    1. NC_000075.7 Reference GRCm39 C57BL/6J

      Range
      13717979..13738698 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_006510649.3 → XP_006510712.1  centrosomal protein of 57 kDa isoform X2

      See identical proteins and their annotated locations for XP_006510712.1

      UniProtKB/TrEMBL
      B8JJF0
      Conserved Domains (2) summary
      pfam06657
      Location:200 → 271
      Cep57_MT_bd; Centrosome microtubule-binding domain of Cep57
      pfam14073
      Location:1 → 96
      Cep57_CLD; Centrosome localization domain of Cep57

    2. XM_030244681.2 → XP_030100541.1  centrosomal protein of 57 kDa isoform X2

      UniProtKB/TrEMBL
      B8JJF0
      Related
      ENSMUSP00000119081.2, ENSMUST00000124883.8
      Conserved Domains (2) summary
      pfam06657
      Location:200 → 271
      Cep57_MT_bd; Centrosome microtubule-binding domain of Cep57
      pfam14073
      Location:1 → 96
      Cep57_CLD; Centrosome localization domain of Cep57

    3. XM_017313667.3 → XP_017169156.1  centrosomal protein of 57 kDa isoform X1

      UniProtKB/TrEMBL
      A0PJD7
      Conserved Domains (2) summary
      pfam06657
      Location:296 → 367
      Cep57_MT_bd; Centrosome microtubule-binding domain of Cep57
      pfam14073
      Location:41 → 218
      Cep57_CLD; Centrosome localization domain of Cep57

    RNA

    1. XR_001779042.3 RNA Sequence

      Related
      ENSMUST00000142494.8
    Nucleotide Protein Strain
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q8CEE0.2 GenPept UniProtKB/Swiss-Prot:Q8CEE0

    Gene LinkOut

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

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