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    CEP120 centrosomal protein 120 [ Homo sapiens (human) ]

    Gene ID: 153241, updated on 4-Jul-2021

    Summary

    Official Symbol
    CEP120provided by HGNC
    Official Full Name
    centrosomal protein 120provided by HGNC
    Primary source
    HGNC:HGNC:26690
    See related
    Ensembl:ENSG00000168944 MIM:613446
    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
    JBTS31; SRTD13; CCDC100
    Summary
    This gene encodes a protein that functions in the microtubule-dependent coupling of the nucleus and the centrosome. A similar protein in mouse plays a role in both interkinetic nuclear migration, which is a characteristic pattern of nuclear movement in neural progenitors, and in neural progenitor self-renewal. Mutations in this gene are predicted to result in neurogenic defects. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2009]
    Expression
    Ubiquitous expression in testis (RPKM 11.0), ovary (RPKM 9.1) and 25 other tissues See more
    Orthologs
    NEW
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    Genomic context

    See CEP120 in Genome Data Viewer
    Location:
    5q23.2
    Exon count:
    25
    Annotation release Status Assembly Chr Location
    109.20210514 current GRCh38.p13 (GCF_000001405.39) 5 NC_000005.10 (123344890..123423842, complement)
    105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 5 NC_000005.9 (122680586..122759536, complement)

    Chromosome 5 - NC_000005.10Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105379152 Neighboring gene PR/SET domain 6 Neighboring gene SUMO1 pseudogene 5 Neighboring gene keratin 8 pseudogene 33 Neighboring gene high mobility group box 3 pseudogene 17 Neighboring gene casein kinase 1 gamma 3

    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

    Associated conditions

    Description Tests
    Genetic variants associated with cardiac structure and function: a meta-analysis and replication of genome-wide association data.
    GeneReviews: Not available
    Genome-wide association for abdominal subcutaneous and visceral adipose reveals a novel locus for visceral fat in women.
    GeneReviews: Not available
    Genome-wide association yields new sequence variants at seven loci that associate with measures of obesity.
    GeneReviews: Not available
    Hundreds of variants clustered in genomic loci and biological pathways affect human height.
    GeneReviews: Not available
    Joubert syndrome 31
    MedGen: C4540355 OMIM: 617761 GeneReviews: Joubert Syndrome
    Compare labs
    Meta-analysis of genome-wide association studies of adult height in East Asians identifies 17 novel loci.
    GeneReviews: Not available
    Short-rib thoracic dysplasia 13 with or without polydactyly
    MedGen: C4225378 OMIM: 616300 GeneReviews: Not available
    Compare labs

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Clone Names

    • FLJ36090, FLJ38327, DKFZp686I06246

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables protein C-terminus binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in astral microtubule organization IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in centrosome cycle IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    involved_in centrosome cycle ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in cerebral cortex development IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in interkinetic nuclear migration IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    involved_in neurogenesis IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in positive regulation of centriole elongation IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    involved_in positive regulation of centriole elongation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in positive regulation of centrosome duplication ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in positive regulation of cilium assembly ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in positive regulation of establishment of protein localization IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    Component Evidence Code Pubs
    is_active_in centriole IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    located_in centriole ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    is_active_in centrosome IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    located_in centrosome IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in cytoplasm IEA
    Inferred from Electronic Annotation
    more info
     

    General protein information

    Preferred Names
    centrosomal protein of 120 kDa
    Names
    centrosomal protein 120kDa
    coiled-coil domain-containing protein 100

    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_042125.1 RefSeqGene

      Range
      5001..83708
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001166226.2NP_001159698.1  centrosomal protein of 120 kDa isoform 2

      See identical proteins and their annotated locations for NP_001159698.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR, lacks a portion of the 5' coding region, and uses a downstream translational start codon, compared to variant 1. The encoded isoform (2) is shorter at the N-terminus, compared to isoform 1.
      Source sequence(s)
      AC010369, AC106792, AK095646, AK296999, AL833929, CB854619
      Consensus CDS
      CCDS54890.1
      UniProtKB/Swiss-Prot
      Q8N960
      UniProtKB/TrEMBL
      B4DLH5
      Related
      ENSP00000307419.6, ENST00000306481.11
      Conserved Domains (5) summary
      cd00030
      Location:504537
      C2; C2 domain
      pfam08647
      Location:648765
      BRE1; BRE1 E3 ubiquitin ligase
      pfam12416
      Location:92314
      DUF3668; Cep120 protein
      pfam17045
      Location:636891
      CEP63; Centrosomal protein of 63 kDa
      cl12013
      Location:713891
      BAR; The Bin/Amphiphysin/Rvs (BAR) domain, a dimerization module that binds membranes and detects membrane curvature
    2. NM_001375405.1NP_001362334.1  centrosomal protein of 120 kDa isoform 1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3), as well as variant 1, encodes isoform 1.
      Source sequence(s)
      AC010369, AC106792, KC877115, KC877116
      Related
      ENSP00000303058.6, ENST00000306467.10
      Conserved Domains (3) summary
      COG1196
      Location:640917
      Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]
      pfam12416
      Location:118340
      DUF3668; Cep120 protein
      cl14603
      Location:9114
      C2; C2 domain
    3. NM_001375406.1NP_001362335.1  centrosomal protein of 120 kDa isoform 3

      Status: REVIEWED

      Source sequence(s)
      AC010369, AC106792, KC877115, KC877116
      Related
      ENSP00000502634.1, ENST00000675330.1
      Conserved Domains (3) summary
      COG1196
      Location:595872
      Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]
      pfam12416
      Location:118340
      DUF3668; Cep120 protein
      cl14603
      Location:9114
      C2; C2 domain
    4. NM_001375407.1NP_001362336.1  centrosomal protein of 120 kDa isoform 4

      Status: REVIEWED

      Source sequence(s)
      AC010369, AC106792, KC877115, KC877116
      Related
      ENSP00000501697.1, ENST00000674684.1
      Conserved Domains (3) summary
      COG1196
      Location:640913
      Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]
      pfam12416
      Location:118340
      DUF3668; Cep120 protein
      cl14603
      Location:9114
      C2; C2 domain
    5. NM_001375408.1NP_001362337.1  centrosomal protein of 120 kDa isoform 5

      Status: REVIEWED

      Description
      Transcript Variant: This variant (6), as well as variant 7, encodes isoform 5.
      Source sequence(s)
      AC010369, AC106792, KC877115, KC877116
      Conserved Domains (2) summary
      COG1196
      Location:461726
      Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]
      pfam12416
      Location:1149
      DUF3668; Cep120 protein
    6. NM_001375409.1NP_001362338.1  centrosomal protein of 120 kDa isoform 5

      Status: REVIEWED

      Description
      Transcript Variant: This variant (7), as well as variant 6, encodes isoform 5.
      Source sequence(s)
      AC010369, AC106792, KC877115, KC877116
      Conserved Domains (2) summary
      COG1196
      Location:461726
      Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]
      pfam12416
      Location:1149
      DUF3668; Cep120 protein
    7. NM_153223.4NP_694955.2  centrosomal protein of 120 kDa isoform 1

      See identical proteins and their annotated locations for NP_694955.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) encodes the longest isoform (1). Variants 1 and 3 both encode the same isoform (1).
      Source sequence(s)
      AC010369, AC106792, AK093409, AK296999, CB854619, DA508726
      Consensus CDS
      CCDS4134.2
      UniProtKB/Swiss-Prot
      Q8N960
      UniProtKB/TrEMBL
      B4DLH5
      Related
      ENSP00000327504.5, ENST00000328236.10
      Conserved Domains (3) summary
      COG1196
      Location:640917
      Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]
      pfam12416
      Location:118340
      DUF3668; Cep120 protein
      cl14603
      Location:9114
      C2; C2 domain

    RNA

    1. NR_164685.1 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AC010369, AC106792, KC877115, KC877116
      Related
      ENST00000674667.1

    RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20210514

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

    Reference GRCh38.p13 Primary Assembly

    Genomic

    1. NC_000005.10 Reference GRCh38.p13 Primary Assembly

      Range
      123344890..123423842 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011543185.2XP_011541487.1  centrosomal protein of 120 kDa isoform X2

      See identical proteins and their annotated locations for XP_011541487.1

      UniProtKB/Swiss-Prot
      Q8N960
      Related
      ENSP00000421620.3, ENST00000508442.7
      Conserved Domains (5) summary
      cd00030
      Location:504537
      C2; C2 domain
      pfam08647
      Location:648765
      BRE1; BRE1 E3 ubiquitin ligase
      pfam12416
      Location:92314
      DUF3668; Cep120 protein
      pfam17045
      Location:636891
      CEP63; Centrosomal protein of 63 kDa
      cl12013
      Location:713891
      BAR; The Bin/Amphiphysin/Rvs (BAR) domain, a dimerization module that binds membranes and detects membrane curvature
    2. XM_017009085.1XP_016864574.1  centrosomal protein of 120 kDa isoform X4

      UniProtKB/Swiss-Prot
      Q8N960
      Conserved Domains (3) summary
      cd00030
      Location:4174
      C2; C2 domain
      pfam17045
      Location:175428
      CEP63; Centrosomal protein of 63 kDa
      cl19219
      Location:281347
      DUF342; Protein of unknown function (DUF342)
    3. XM_011543186.2XP_011541488.1  centrosomal protein of 120 kDa isoform X4

      See identical proteins and their annotated locations for XP_011541488.1

      UniProtKB/Swiss-Prot
      Q8N960
      Related
      ENST00000675283.1
      Conserved Domains (3) summary
      cd00030
      Location:4174
      C2; C2 domain
      pfam17045
      Location:175428
      CEP63; Centrosomal protein of 63 kDa
      cl19219
      Location:281347
      DUF342; Protein of unknown function (DUF342)
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