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    CEP152 centrosomal protein 152 [ Homo sapiens (human) ]

    Gene ID: 22995, updated on 3-Apr-2024

    Summary

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    Official Symbol
    CEP152provided by HGNC
    Official Full Name
    centrosomal protein 152provided by HGNC
    Primary source
    HGNC:HGNC:29298
    See related
    Ensembl:ENSG00000103995 MIM:613529; AllianceGenome:HGNC:29298
    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
    MCPH4; MCPH9; SCKL5
    Summary
    This gene encodes a protein that is thought to be involved with centrosome function. Mutations in this gene have been associated with primary microcephaly (MCPH4). Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2010]
    Expression
    Broad expression in testis (RPKM 2.6), bone marrow (RPKM 2.5) and 23 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    Location:
    15q21.1
    Exon count:
    34
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 15 NC_000015.10 (48729083..48811069, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 15 NC_060939.1 (46536038..46619269, complement)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 15 NC_000015.9 (49030135..49103266, complement)

    Chromosome 15 - NC_000015.10Genomic Context describing neighboring genes Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:48937944-48938468 Neighboring gene FBN1 divergent transcript Neighboring gene oxidation resistance 1 pseudogene Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9377 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr15:49090426-49090965 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:49099693-49100193 Neighboring gene H3K27ac hESC enhancer GRCh37_chr15:49102416-49102977 Neighboring gene uncharacterized LOC124903487 Neighboring gene ReSE screen-validated silencer GRCh37_chr15:49103270-49103460 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9378 Neighboring gene MPRA-validated peak2329 silencer Neighboring gene ReSE screen-validated silencer GRCh37_chr15:49136024-49136191 Neighboring gene Sharpr-MPRA regulatory region 4235 Neighboring gene SHC adaptor protein 4 Neighboring gene ReSE screen-validated silencer GRCh37_chr15:49166520-49166841 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9379 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9380 Neighboring gene ReSE screen-validated silencer GRCh37_chr15:49180996-49181177 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr15:49204976-49206175 Neighboring gene EP300 interacting inhibitor of differentiation 1 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr15:49237854-49239053 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:49254590-49255092 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:49255093-49255594 Neighboring gene keratin 8 pseudogene 24

    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. Primary autosomal recessive microcephaly: homozygosity mapping of MCPH4 to chromosome 15. Jamieson CR, et al. Am J Hum Genet, 1999 Nov. PMID 10521316, Free PMC Article
    2. Polymorphism in miRNA target sites of CEP-63 and CEP-152 ring complex influences expression of CEP genes and favors tumorigenesis in glioma. Mahjabeen I, et al. Future Oncol, 2021 Sep. PMID 34156311
    3. Distinct roles of Cep192 and Cep152 in acentriolar MTOCs and spindle formation during mouse oocyte maturation. Lee IW, et al. FASEB J, 2018 Feb. PMID 28970258
    4. Commercial Cdk1 antibodies recognize the centrosomal protein Cep152. Lukinavičius G, et al. Biotechniques, 2013 Sep. PMID 24137814
    5. Mutations in centrosomal protein CEP152 in primary microcephaly families linked to MCPH4. Guernsey DL, et al. Am J Hum Genet, 2010 Jul 9. PMID 20598275, Free PMC Article

    See all (67) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Centrosomal organization of Cep152 provides flexibility in Plk4 and procentriole positioning.
      Title: Centrosomal organization of Cep152 provides flexibility in Plk4 and procentriole positioning.
    2. Polymorphism in miRNA target sites of CEP-63 and CEP-152 ring complex influences expression of CEP genes and favors tumorigenesis in glioma.
      Title: Polymorphism in miRNA target sites of CEP-63 and CEP-152 ring complex influences expression of CEP genes and favors tumorigenesis in glioma.
    3. 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.
    4. Study shows that Cep63 and Cep152 cooperatively generate a heterotetrameric alpha-helical bundle that functions in conjunction with its neighboring hydrophobic motifs to self-assemble into a higher-order cylindrical architecture capable of recruiting downstream components, including Plk4, a key regulator for centriole duplication. Mutations disrupting the self-assembly abrogate Plk4-mediated centriole duplication.
      Title: Molecular architecture of a cylindrical self-assembly at human centrosomes.
    5. results demonstrate the different roles of Cep192 and Cep152 in MTOC remodeling and a novel regulatory mechanism during meiotic spindle formation in mouse oocytes.
      Title: Distinct roles of Cep192 and Cep152 in acentriolar MTOCs and spindle formation during mouse oocyte maturation.
    6. Plk4 is intricately regulated in time and space through ordered interactions with two distinct scaffolds, Cep192 and Cep152, and a failure in this process may lead to human cancer.
      Title: Molecular basis for unidirectional scaffold switching of human Plk4 in centriole biogenesis.
    7. both mouse and human Cep63 and Cep152 cooperate to ensure efficient centriole duplication by promoting the accumulation of essential centriole duplication factors upstream of SAS-6 recruitment and procentriole formation.
      Title: Cep63 and cep152 cooperate to ensure centriole duplication.
    8. Found that both sc-54 and ab18 antibodies recognize not only Cdk1 but also Cep152 in Western blot and immunofluorescence assays.
      Title: Commercial Cdk1 antibodies recognize the centrosomal protein Cep152.
    9. Loss of the Cep192- or Cep152-dependent interaction with Plk4 resulted in impaired centriole duplication that led to delayed cell proliferation.
      Title: Hierarchical recruitment of Plk4 and regulation of centriole biogenesis by two centrosomal scaffolds, Cep192 and Cep152.
    10. cooperation between Cep192 and Cep152 is crucial for centriole recruitment of Plk4 and centriole duplication during the cell cycle.
      Title: Human Cep192 and Cep152 cooperate in Plk4 recruitment and centriole duplication.
    Submit: New GeneRIF Correction See all GeneRIFs (17)

    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
    Microcephaly 9, primary, autosomal recessive
    MedGen: C3553886 OMIM: 614852 GeneReviews: Not available
    		Compare labs
    Seckel syndrome 5
    MedGen: C3151187 OMIM: 613823 GeneReviews: Not available
    		Compare labs

    EBI GWAS Catalog

    Description
    A genome-wide association study of sleep habits and insomnia.
    EBI GWAS Catalog
    A genome-wide search for loci interacting with known prostate cancer risk-associated genetic variants.
    EBI GWAS Catalog
    Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.
    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

    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

    • FLJ21594, KIAA0912

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables protein kinase binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in cell projection organization IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in centriole replication IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in centriole replication IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in centriole replication ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in centrosome duplication IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in de novo centriole assembly involved in multi-ciliated epithelial cell differentiation ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    Component Evidence Code Pubs
    located_in centriole IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    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 TAS
    Traceable Author Statement
    more info
    		  
    located_in deuterosome ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    located_in nucleoplasm IDA
    Inferred from Direct Assay
    more info
    		  
    located_in pericentriolar material IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in procentriole IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    part_of procentriole replication complex IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    centrosomal protein of 152 kDa
    Names
    asterless
    centrosomal protein 152kDa
    microcephaly, primary autosomal recessive 4

    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_027518.3 RefSeqGene

      Range
      5000..78131
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001194998.2 → NP_001181927.1  centrosomal protein of 152 kDa isoform 1

      See identical proteins and their annotated locations for NP_001181927.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longer variant and encodes the longer isoform (1).
      Source sequence(s)
      BG941609, BX648822, CN394613
      Consensus CDS
      CCDS58361.1
      UniProtKB/Swiss-Prot
      E7ER66, O94986, Q17RV1, Q6NTA0
      Related
      ENSP00000370337.2, ENST00000380950.7
      Conserved Domains (2) summary
      pfam01496
      Location:256 → 328
      V_ATPase_I; V-type ATPase 116kDa subunit family
      pfam02463
      Location:244 → 1074
      SMC_N; RecF/RecN/SMC N terminal domain

    2. NM_014985.4 → NP_055800.2  centrosomal protein of 152 kDa isoform 2

      See identical proteins and their annotated locations for NP_055800.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) lacks an in-frame exon in the coding region, compared to variant 1. It encodes isoform 2, which is shorter than isoform 1.
      Source sequence(s)
      AI038653, BC107721, BC117182
      Consensus CDS
      CCDS42033.1
      UniProtKB/Swiss-Prot
      O94986
      UniProtKB/TrEMBL
      Q3B7A2
      Related
      ENSP00000382271.3, ENST00000399334.7
      Conserved Domains (2) summary
      pfam01496
      Location:256 → 328
      V_ATPase_I; V-type ATPase 116kDa subunit family
      pfam02463
      Location:244 → 1074
      SMC_N; RecF/RecN/SMC N terminal domain

    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_000015.10 Reference GRCh38.p14 Primary Assembly

      Range
      48729083..48811069 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047432254.1 → XP_047288210.1  centrosomal protein of 152 kDa isoform X9

    2. XM_047432253.1 → XP_047288209.1  centrosomal protein of 152 kDa isoform X7

    3. XM_047432252.1 → XP_047288208.1  centrosomal protein of 152 kDa isoform X6

    4. XM_011521374.4 → XP_011519676.1  centrosomal protein of 152 kDa isoform X4

      Related
      ENSP00000321000.5, ENST00000325747.9
      Conserved Domains (2) summary
      pfam01496
      Location:256 → 328
      V_ATPase_I; V-type ATPase 116kDa subunit family
      pfam02463
      Location:244 → 1074
      SMC_N; RecF/RecN/SMC N terminal domain

    5. XM_011521375.4 → XP_011519677.1  centrosomal protein of 152 kDa isoform X5

      Conserved Domains (2) summary
      pfam01496
      Location:256 → 328
      V_ATPase_I; V-type ATPase 116kDa subunit family
      pfam02463
      Location:244 → 1074
      SMC_N; RecF/RecN/SMC N terminal domain

    6. XM_024449875.2 → XP_024305643.1  centrosomal protein of 152 kDa isoform X3

      Conserved Domains (1) summary
      cl25732
      Location:244 → 1074
      SMC_N; RecF/RecN/SMC N terminal domain

    7. XM_011521379.4 → XP_011519681.1  centrosomal protein of 152 kDa isoform X8

      Conserved Domains (2) summary
      pfam01496
      Location:256 → 328
      V_ATPase_I; V-type ATPase 116kDa subunit family
      pfam02463
      Location:244 → 1074
      SMC_N; RecF/RecN/SMC N terminal domain

    8. XM_011521373.4 → XP_011519675.1  centrosomal protein of 152 kDa isoform X2

      Conserved Domains (2) summary
      pfam01496
      Location:256 → 328
      V_ATPase_I; V-type ATPase 116kDa subunit family
      pfam02463
      Location:244 → 1074
      SMC_N; RecF/RecN/SMC N terminal domain

    9. XM_006720437.4 → XP_006720500.1  centrosomal protein of 152 kDa isoform X1

      See identical proteins and their annotated locations for XP_006720500.1

      UniProtKB/Swiss-Prot
      E7ER66, O94986, Q17RV1, Q6NTA0
      Conserved Domains (2) summary
      pfam01496
      Location:256 → 328
      V_ATPase_I; V-type ATPase 116kDa subunit family
      pfam02463
      Location:244 → 1074
      SMC_N; RecF/RecN/SMC N terminal domain

    10. XM_017022015.2 → XP_016877504.1  centrosomal protein of 152 kDa isoform X10

      Conserved Domains (1) summary
      cl21478
      Location:308 → 404
      ATP-synt_B; ATP synthase B/B' CF(0)

    11. XM_011521381.3 → XP_011519683.1  centrosomal protein of 152 kDa isoform X10

      Conserved Domains (1) summary
      cl21478
      Location:308 → 404
      ATP-synt_B; ATP synthase B/B' CF(0)

    12. XM_017022016.3 → XP_016877505.1  centrosomal protein of 152 kDa isoform X11

      UniProtKB/TrEMBL
      B4E1E7

    RNA

    1. XR_931769.4 RNA Sequence

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060939.1 Alternate T2T-CHM13v2.0

      Range
      46536038..46619269 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054377537.1 → XP_054233512.1  centrosomal protein of 152 kDa isoform X9

    2. XM_054377534.1 → XP_054233509.1  centrosomal protein of 152 kDa isoform X6

    3. XM_054377535.1 → XP_054233510.1  centrosomal protein of 152 kDa isoform X7

    4. XM_054377532.1 → XP_054233507.1  centrosomal protein of 152 kDa isoform X4

    5. XM_054377533.1 → XP_054233508.1  centrosomal protein of 152 kDa isoform X5

    6. XM_054377531.1 → XP_054233506.1  centrosomal protein of 152 kDa isoform X3

    7. XM_054377536.1 → XP_054233511.1  centrosomal protein of 152 kDa isoform X8

    8. XM_054377530.1 → XP_054233505.1  centrosomal protein of 152 kDa isoform X2

    9. XM_054377529.1 → XP_054233504.1  centrosomal protein of 152 kDa isoform X1

      UniProtKB/Swiss-Prot
      E7ER66, O94986, Q17RV1, Q6NTA0

    10. XM_054377539.1 → XP_054233514.1  centrosomal protein of 152 kDa isoform X10

    11. XM_054377538.1 → XP_054233513.1  centrosomal protein of 152 kDa isoform X10

    12. XM_054377540.1 → XP_054233515.1  centrosomal protein of 152 kDa isoform X11

    RNA

    1. XR_008488930.1 RNA Sequence

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    O94986.4 GenPept UniProtKB/Swiss-Prot:O94986

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