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CEP57 centrosomal protein 57 [ Homo sapiens (human) ]

Gene ID: 9702, updated on 7-Apr-2024

Summary

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Official Symbol
CEP57provided by HGNC
Official Full Name
centrosomal protein 57provided by HGNC
Primary source
HGNC:HGNC:30794
See related
Ensembl:ENSG00000166037 MIM:607951; AllianceGenome:HGNC:30794
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
MVA2; PIG8; TSP57
Summary
This gene encodes a cytoplasmic protein called Translokin. This protein localizes to the centrosome and has a function in microtubular stabilization. The N-terminal half of this protein is required for its centrosome localization and for its multimerization, and the C-terminal half is required for nucleating, bundling and anchoring microtubules to the centrosomes. This protein specifically interacts with fibroblast growth factor 2 (FGF2), sorting nexin 6, Ran-binding protein M and the kinesins KIF3A and KIF3B, and thus mediates the nuclear translocation and mitogenic activity of the FGF2. It also interacts with cyclin D1 and controls nucleocytoplasmic distribution of the cyclin D1 in quiescent cells. This protein is crucial for maintaining correct chromosomal number during cell division. Mutations in this gene cause mosaic variegated aneuploidy syndrome, a rare autosomal recessive disorder. Multiple alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Aug 2011]
Expression
Ubiquitous expression in testis (RPKM 11.8), gall bladder (RPKM 11.4) and 25 other tissues See more
Orthologs
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Genomic context

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Location:
11q21
Exon count:
14
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 11 NC_000011.10 (95790498..95832693)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 11 NC_060935.1 (95797891..95840118)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (95523662..95565857)

Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene fibroblast growth factor receptor 3 pseudogene 2 Neighboring gene family with sequence similarity 76 member B Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3851 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5417 Neighboring gene H3K27ac hESC enhancer GRCh37_chr11:95523907-95524570 Neighboring gene RNA, 5S ribosomal pseudogene 345 Neighboring gene myotubularin related protein 2 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5418 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5419 Neighboring gene ribosomal protein L32 pseudogene 25

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
  • 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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Related articles in PubMed

  1. Mosaic variegated aneuploidy syndrome 2 with biallelic novel CEP57 splice site variation in Indian siblings: Expanding the clinical and molecular spectrum. Langeh N, et al. Clin Genet, 2023 Apr. PMID 36635612
  2. Mosaic Variegated Aneuploidy syndrome 2 caused by biallelic variants in CEP57, two new cases and review of the phenotype. Santos-Simarro F, et al. Eur J Med Genet, 2021 Nov. PMID 34500087
  3. Follow-up of two adult brothers with homozygous CEP57 pathogenic variants expands the phenotype of Mosaic Variegated Aneuploidy Syndrome. Dery T, et al. Eur J Med Genet, 2020 Nov. PMID 32861809
  4. Cep57 is a Mis12-interacting kinetochore protein involved in kinetochore targeting of Mad1-Mad2. Zhou H, et al. Nat Commun, 2016 Jan 8. PMID 26743940, Free PMC Article
  5. Copy number variation in CEP57L1 predisposes to congenital absence of bilateral ACL and PCL ligaments. Liu Y, et al. Hum Genomics, 2015 Nov 11. PMID 26561035, Free PMC Article

See all (56) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Mosaic variegated aneuploidy syndrome 2 with biallelic novel CEP57 splice site variation in Indian siblings: Expanding the clinical and molecular spectrum.
    Title: Mosaic variegated aneuploidy syndrome 2 with biallelic novel CEP57 splice site variation in Indian siblings: Expanding the clinical and molecular spectrum.
  2. Mosaic Variegated Aneuploidy syndrome 2 caused by biallelic variants in CEP57, two new cases and review of the phenotype.
    Title: Mosaic Variegated Aneuploidy syndrome 2 caused by biallelic variants in CEP57, two new cases and review of the phenotype.
  3. Cep57 and Cep57L1 maintain centriole engagement in interphase to ensure centriole duplication cycle.
    Title: Cep57 and Cep57L1 maintain centriole engagement in interphase to ensure centriole duplication cycle.
  4. Follow-up of two adult brothers with homozygous CEP57 pathogenic variants expands the phenotype of Mosaic Variegated Aneuploidy Syndrome.
    Title: Follow-up of two adult brothers with homozygous CEP57 pathogenic variants expands the phenotype of Mosaic Variegated Aneuploidy Syndrome.
  5. Requirement of the Cep57-Cep63 Interaction for Proper Cep152 Recruitment and Centriole Duplication.
    Title: Requirement of the Cep57-Cep63 Interaction for Proper Cep152 Recruitment and Centriole Duplication.
  6. Depletion of Cep57 causes PCM disorganization and precocious centriole disengagement during mitosis.
    Title: The Cep57-pericentrin module organizes PCM expansion and centriole engagement.
  7. Cep57 is a mitotic kinetochore component that links the function of the KMN (KNL1/Mis12 complex/Ndc80 complex) network and spindle assembly checkpoint via Mis12 binding and Mad1-Mad2 interaction.
    Title: Cep57 is a Mis12-interacting kinetochore protein involved in kinetochore targeting of Mad1-Mad2.
  8. We identified copy number variation (CNV) deletion impacting the exon sequences of CEP57L1, present in the affected mother and her affected daughter
    Title: Copy number variation in CEP57L1 predisposes to congenital absence of bilateral ACL and PCL ligaments.
  9. Cep57, Cep63, and Cep152 are parts of a ring-like complex localizing around the proximal end of centrioles.
    Title: Selective chemical crosslinking reveals a Cep57-Cep63-Cep152 centrosomal complex.
  10. 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.
Submit: New GeneRIF Correction See all GeneRIFs (15)

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

Associated conditions

Description Tests
Mosaic variegated aneuploidy syndrome 2
MedGen: C3279843 OMIM: 614114 GeneReviews: Not available
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EBI GWAS Catalog

Description
Genetics of rheumatoid arthritis contributes to biology and drug discovery.
EBI GWAS Catalog

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

HIV-1 interactions

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Protein interactions

Protein Gene Interaction Pubs
Vpu vpu HIV-1 Vpu is identified to have a physical interaction with centrosomal protein 57kDa (CEP57) in human HEK293 and/or Jurkat cell lines by using affinity tagging and purification mass spectrometry analyses PubMed

Go to the HIV-1, Human Interaction Database

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

Clone Names

  • KIAA0092

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables fibroblast growth factor binding IPI
Inferred from Physical Interaction
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 protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
enables protein homodimerization activity IPI
Inferred from Physical Interaction
more info
 PubMed 
Process Evidence Code Pubs
involved_in fibroblast growth factor receptor signaling pathway IPI
Inferred from Physical Interaction
more info
 PubMed 
involved_in protein homooligomerization IEA
Inferred from Electronic Annotation
more info
  
involved_in spermatid development ISS
Inferred from Sequence or Structural Similarity
more info
 PubMed 
Component Evidence Code Pubs
located_in Golgi apparatus IDA
Inferred from Direct Assay
more info
 PubMed 
located_in centriolar satellite IDA
Inferred from Direct Assay
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 cytosol IDA
Inferred from Direct Assay
more info
  
located_in cytosol TAS
Traceable Author Statement
more info
  
located_in microtubule IDA
Inferred from Direct Assay
more info
 PubMed 
located_in nucleus ISS
Inferred from Sequence or Structural Similarity
more info
 PubMed 

General protein information

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Preferred Names
centrosomal protein of 57 kDa
Names
FGF2-interacting protein
centrosomal protein 57kDa
proliferation-inducing protein 8
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.

Genomic

  1. NG_029829.1 RefSeqGene

    Range
    5001..47233
    Download
    GenBank, FASTA, Sequence Viewer (Graphics), LRG_526

mRNA and Protein(s)

  1. NM_001243776.2 → NP_001230705.1  centrosomal protein of 57 kDa isoform b

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) has an additional exon in the 5' region, compared to variant 1. The resulting isoform (b) has a shorter and different N-terminus, compared to isoform a.
    Source sequence(s)
    AA730219, AK293277, AY239292, DB032301
    Consensus CDS
    CCDS58167.1
    UniProtKB/Swiss-Prot
    Q86XR8
    Related
    ENSP00000443436.1, ENST00000541150.5
    Conserved Domains (2) summary
    pfam06657
    Location:340 → 411
    Cep57_MT_bd; Centrosome microtubule-binding domain of Cep57
    pfam14073
    Location:59 → 236
    Cep57_CLD; Centrosome localization domain of Cep57

  2. NM_001243777.2 → NP_001230706.1  centrosomal protein of 57 kDa isoform c

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) lacks an in-frame exon in the 3' coding region, compared to variant 1. The resulting isoform (c) lacks an internal segment, compared to isoform a.
    Source sequence(s)
    AA730219, AY239292, D42054, DB032301
    Consensus CDS
    CCDS58166.1
    UniProtKB/Swiss-Prot
    Q86XR8
    Related
    ENSP00000317487.5, ENST00000325486.9
    Conserved Domains (2) summary
    pfam06657
    Location:323 → 394
    Cep57_MT_bd; Centrosome microtubule-binding domain of Cep57
    pfam14073
    Location:68 → 245
    Cep57_CLD; Centrosome localization domain of Cep57

  3. NM_001363604.2 → NP_001350533.1  centrosomal protein of 57 kDa isoform d

    Status: REVIEWED

    Source sequence(s)
    AP001877
    Consensus CDS
    CCDS86240.1
    UniProtKB/TrEMBL
    F5GYW0
    Related
    ENSP00000441392.1, ENST00000537677.5
    Conserved Domains (2) summary
    pfam06657
    Location:321 → 394
    Cep57_MT_bd; Centrosome microtubule-binding domain of Cep57
    pfam14073
    Location:41 → 218
    Cep57_CLD; Centrosome localization domain of Cep57

  4. NM_014679.5 → NP_055494.2  centrosomal protein of 57 kDa isoform a

    See identical proteins and their annotated locations for NP_055494.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) encodes the longest isoform (a).
    Source sequence(s)
    AA730219, AY239292, BC001233, DB032301
    Consensus CDS
    CCDS8304.1
    UniProtKB/Swiss-Prot
    A0PJH1, A8K5D0, B4DDP5, F5H5F7, Q14704, Q5JB46, Q86XR8, Q8IXP0, Q9BVF9
    Related
    ENSP00000317902.5, ENST00000325542.10
    Conserved Domains (2) summary
    pfam06657
    Location:349 → 420
    Cep57_MT_bd; Centrosome microtubule-binding domain of Cep57
    pfam14073
    Location:68 → 245
    Cep57_CLD; Centrosome localization domain of Cep57

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000011.10 Reference GRCh38.p14 Primary Assembly

    Range
    95790498..95832693
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_006718946.4 → XP_006719009.1  centrosomal protein of 57 kDa isoform X3

    Conserved Domains (2) summary
    pfam06657
    Location:287 → 358
    Cep57_MT_bd; Centrosome microtubule-binding domain of Cep57
    pfam14073
    Location:68 → 233
    Cep57_CLD; Centrosome localization domain of Cep57

  2. XM_006718945.4 → XP_006719008.1  centrosomal protein of 57 kDa isoform X2

    Conserved Domains (4) summary
    pfam06657
    Location:310 → 381
    Cep57_MT_bd; Centrosome microtubule-binding domain of Cep57
    pfam14073
    Location:68 → 206
    Cep57_CLD; Centrosome localization domain of Cep57
    cd16269
    Location:160 → 171
    GBP_C; coiled coil [structural motif]
    cl20817
    Location:63 → 196
    GBP_C; Guanylate-binding protein, C-terminal domain

  3. XM_017018593.3 → XP_016874082.1  centrosomal protein of 57 kDa isoform X4

  4. XM_017018594.3 → XP_016874083.1  centrosomal protein of 57 kDa isoform X5

  5. XM_017018592.2 → XP_016874081.1  centrosomal protein of 57 kDa isoform X1

    UniProtKB/Swiss-Prot
    Q86XR8
    Conserved Domains (2) summary
    pfam06657
    Location:340 → 411
    Cep57_MT_bd; Centrosome microtubule-binding domain of Cep57
    pfam14073
    Location:59 → 236
    Cep57_CLD; Centrosome localization domain of Cep57

  6. XM_047427925.1 → XP_047283881.1  centrosomal protein of 57 kDa isoform X6

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060935.1 Alternate T2T-CHM13v2.0

    Range
    95797891..95840118
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054370615.1 → XP_054226590.1  centrosomal protein of 57 kDa isoform X3

  2. XM_054370614.1 → XP_054226589.1  centrosomal protein of 57 kDa isoform X2

  3. XM_054370616.1 → XP_054226591.1  centrosomal protein of 57 kDa isoform X4

  4. XM_054370617.1 → XP_054226592.1  centrosomal protein of 57 kDa isoform X5

  5. XM_054370613.1 → XP_054226588.1  centrosomal protein of 57 kDa isoform X1

  6. XM_054370618.1 → XP_054226593.1  centrosomal protein of 57 kDa isoform X6

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q86XR8.2 GenPept UniProtKB/Swiss-Prot:Q86XR8

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