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

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 and 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, Nov 2024]
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

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_000075.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

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Expression

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See details

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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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.
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.
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.
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.
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.
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.

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Variation

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Alleles

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

Endonuclease-mediated (4) 1 citation

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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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 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	IEA Inferred from Electronic Annotation more info
located_in Golgi apparatus	ISO Inferred from Sequence Orthology more info
located_in centriolar satellite	IEA Inferred from Electronic Annotation 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 cytosol	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)

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
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

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

NC_000075.7 Reference GRCm39 C57BL/6J

Range

13717979..13738698 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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
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
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