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    CEP152 centrosomal protein 152 [ Homo sapiens (human) ]

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

    Summary

    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
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See CEP152 in Genome Data Viewer
    Location:
    15q21.1
    Exon count:
    34
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 15 NC_000015.10 (48729083..48811069, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 15 NC_060939.1 (46536038..46619269, complement)
    RS_2024_09 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

    Expression

    • 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

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    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

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    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

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

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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_001194998.2NP_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:256328
      V_ATPase_I; V-type ATPase 116kDa subunit family
      pfam02463
      Location:2441074
      SMC_N; RecF/RecN/SMC N terminal domain
    2. NM_014985.4NP_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:256328
      V_ATPase_I; V-type ATPase 116kDa subunit family
      pfam02463
      Location:2441074
      SMC_N; RecF/RecN/SMC N terminal domain

    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_000015.10 Reference GRCh38.p14 Primary Assembly

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

    mRNA and Protein(s)

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

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

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

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

      Related
      ENSP00000321000.5, ENST00000325747.9
      Conserved Domains (2) summary
      pfam01496
      Location:256328
      V_ATPase_I; V-type ATPase 116kDa subunit family
      pfam02463
      Location:2441074
      SMC_N; RecF/RecN/SMC N terminal domain
    5. XM_011521375.4XP_011519677.1  centrosomal protein of 152 kDa isoform X5

      Conserved Domains (2) summary
      pfam01496
      Location:256328
      V_ATPase_I; V-type ATPase 116kDa subunit family
      pfam02463
      Location:2441074
      SMC_N; RecF/RecN/SMC N terminal domain
    6. XM_024449875.2XP_024305643.1  centrosomal protein of 152 kDa isoform X3

      Conserved Domains (1) summary
      cl25732
      Location:2441074
      SMC_N; RecF/RecN/SMC N terminal domain
    7. XM_011521379.4XP_011519681.1  centrosomal protein of 152 kDa isoform X8

      Conserved Domains (2) summary
      pfam01496
      Location:256328
      V_ATPase_I; V-type ATPase 116kDa subunit family
      pfam02463
      Location:2441074
      SMC_N; RecF/RecN/SMC N terminal domain
    8. XM_011521373.4XP_011519675.1  centrosomal protein of 152 kDa isoform X2

      Conserved Domains (2) summary
      pfam01496
      Location:256328
      V_ATPase_I; V-type ATPase 116kDa subunit family
      pfam02463
      Location:2441074
      SMC_N; RecF/RecN/SMC N terminal domain
    9. XM_006720437.4XP_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:256328
      V_ATPase_I; V-type ATPase 116kDa subunit family
      pfam02463
      Location:2441074
      SMC_N; RecF/RecN/SMC N terminal domain
    10. XM_017022015.2XP_016877504.1  centrosomal protein of 152 kDa isoform X10

      Conserved Domains (1) summary
      cl21478
      Location:308404
      ATP-synt_B; ATP synthase B/B' CF(0)
    11. XM_011521381.3XP_011519683.1  centrosomal protein of 152 kDa isoform X10

      Conserved Domains (1) summary
      cl21478
      Location:308404
      ATP-synt_B; ATP synthase B/B' CF(0)
    12. XM_017022016.3XP_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_054377537.1XP_054233512.1  centrosomal protein of 152 kDa isoform X9

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

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

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

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

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

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

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

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

      UniProtKB/Swiss-Prot
      E7ER66, O94986, Q17RV1, Q6NTA0
    10. XM_054377539.1XP_054233514.1  centrosomal protein of 152 kDa isoform X10

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

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

    RNA

    1. XR_008488930.1 RNA Sequence