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    CEP57 centrosomal protein 57 [ Homo sapiens (human) ]

    Gene ID: 9702, updated on 28-Oct-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
    mouse all
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    Genomic context

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    See CEP57 in Genome Data Viewer
    Location:
    11q21
    Exon count:
    14
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 11 NC_000011.10 (95790498..95832693)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 11 NC_060935.1 (95797891..95840118)
    RS_2024_09 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 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. Cep57 regulates human centrosomes through multivalent interactions. Yeh HW, et al. Proc Natl Acad Sci U S A, 2024 Jun 18. PMID 38857398, Free PMC Article
    2. 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
    3. 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
    4. 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
    5. 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

    See all (61) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Cep57 regulates human centrosomes through multivalent interactions.
      Title: Cep57 regulates human centrosomes through multivalent interactions.
    2. 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.
    3. 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.
    4. 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.
    5. 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.
    6. 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.
    7. Depletion of Cep57 causes PCM disorganization and precocious centriole disengagement during mitosis.
      Title: The Cep57-pericentrin module organizes PCM expansion and centriole engagement.
    8. 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.
    9. 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.
    10. 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.
    Submit: New GeneRIF Correction See all GeneRIFs (16)

    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
    		Compare labs

    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_2024_08

    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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