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

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

Summary

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
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Genomic context

See Cep57 in Genome Data Viewer
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

Expression

  • 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Variation

Alleles

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

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

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

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_001310721.1NP_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:323393
    Cep57_MT_bd; Centrosome microtubule-binding domain of Cep57
    pfam14073
    Location:68245
    Cep57_CLD; Centrosome localization domain of Cep57
  2. NM_026665.4NP_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:349419
    Cep57_MT_bd; Centrosome microtubule-binding domain of Cep57
    pfam14073
    Location:68245
    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_006510649.3XP_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:200271
    Cep57_MT_bd; Centrosome microtubule-binding domain of Cep57
    pfam14073
    Location:196
    Cep57_CLD; Centrosome localization domain of Cep57
  2. XM_030244681.2XP_030100541.1  centrosomal protein of 57 kDa isoform X2

    UniProtKB/TrEMBL
    B8JJF0
    Related
    ENSMUSP00000119081.2, ENSMUST00000124883.8
    Conserved Domains (2) summary
    pfam06657
    Location:200271
    Cep57_MT_bd; Centrosome microtubule-binding domain of Cep57
    pfam14073
    Location:196
    Cep57_CLD; Centrosome localization domain of Cep57
  3. XM_017313667.3XP_017169156.1  centrosomal protein of 57 kDa isoform X1

    UniProtKB/TrEMBL
    A0PJD7
    Conserved Domains (2) summary
    pfam06657
    Location:296367
    Cep57_MT_bd; Centrosome microtubule-binding domain of Cep57
    pfam14073
    Location:41218
    Cep57_CLD; Centrosome localization domain of Cep57

RNA

  1. XR_001779042.3 RNA Sequence

    Related
    ENSMUST00000142494.8