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CEP152 centrosomal protein 152 [ Homo sapiens (human) ]

Gene ID: 22995, updated on 4-Jun-2020

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
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

Genomic context

See CEP152 in Genome Data Viewer
Location:
15q21.1
Exon count:
37
Annotation release Status Assembly Chr Location
109.20200522 current GRCh38.p13 (GCF_000001405.39) 15 NC_000015.10 (48662534..48811904, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 15 NC_000015.9 (49030135..49104092, complement)

Chromosome 15 - NC_000015.10Genomic Context describing neighboring genes Neighboring gene fibrillin 1 Neighboring gene Sharpr-MPRA regulatory region 9539 Neighboring gene uncharacterized LOC105370809 Neighboring gene oxidation resistance 1 pseudogene Neighboring gene uncharacterized LOC101928472 Neighboring gene SHC adaptor protein 4 Neighboring gene EP300 interacting inhibitor of differentiation 1 Neighboring gene keratin 8 pseudogene 24

Genomic regions, transcripts, and products

Expression

  • 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

NHGRI GWAS Catalog

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

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ21594, KIAA0912

Gene Ontology Provided by GOA

Function Evidence Code Pubs
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein kinase binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
G2/M transition of mitotic cell cycle TAS
Traceable Author Statement
more info
 
centriole replication IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
centriole replication ISS
Inferred from Sequence or Structural Similarity
more info
 
centrosome duplication IMP
Inferred from Mutant Phenotype
more info
PubMed 
ciliary basal body-plasma membrane docking TAS
Traceable Author Statement
more info
 
de novo centriole assembly involved in multi-ciliated epithelial cell differentiation ISS
Inferred from Sequence or Structural Similarity
more info
 
regulation of G2/M transition of mitotic cell cycle TAS
Traceable Author Statement
more info
 
Component Evidence Code Pubs
centriole IDA
Inferred from Direct Assay
more info
PubMed 
centrosome IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
centrosome IDA
Inferred from Direct Assay
more info
PubMed 
cytosol TAS
Traceable Author Statement
more info
 
deuterosome ISS
Inferred from Sequence or Structural Similarity
more info
 
nucleoplasm IDA
Inferred from Direct Assay
more info
 
pericentriolar material IDA
Inferred from Direct Assay
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)

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_027518.2 RefSeqGene

    Range
    5078..78209
    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
    O94986
    UniProtKB/TrEMBL
    Q3B7A2
    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: Homo sapiens Updated Annotation Release 109.

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000015.10 Reference GRCh38.p13 Primary Assembly

    Range
    48662534..48811904 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011521374.3XP_011519676.1  centrosomal protein of 152 kDa isoform X4

    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. XM_011521378.3XP_011519680.1  centrosomal protein of 152 kDa isoform X6

    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
  3. XM_011521375.3XP_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
  4. XM_024449875.1XP_024305643.1  centrosomal protein of 152 kDa isoform X3

    Conserved Domains (1) summary
    cl25732
    Location:2441074
    SMC_N; RecF/RecN/SMC N terminal domain
  5. XM_011521373.3XP_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
  6. XM_017022015.1XP_016877504.1  centrosomal protein of 152 kDa isoform X8

    Conserved Domains (1) summary
    cl21478
    Location:308404
    ATP-synt_B; ATP synthase B/B' CF(0)
  7. XM_011521381.2XP_011519683.1  centrosomal protein of 152 kDa isoform X8

    Conserved Domains (1) summary
    cl21478
    Location:308404
    ATP-synt_B; ATP synthase B/B' CF(0)
  8. XM_006720437.3XP_006720500.1  centrosomal protein of 152 kDa isoform X1

    See identical proteins and their annotated locations for XP_006720500.1

    UniProtKB/Swiss-Prot
    O94986
    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_011521379.3XP_011519681.1  centrosomal protein of 152 kDa isoform X7

    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_017022016.2XP_016877505.1  centrosomal protein of 152 kDa isoform X9

RNA

  1. XR_931775.3 RNA Sequence

  2. XR_001751153.2 RNA Sequence

  3. XR_931770.3 RNA Sequence

  4. XR_931769.3 RNA Sequence

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