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CEP120 centrosomal protein 120 [ Homo sapiens (human) ]

Gene ID: 153241, updated on 11-Jun-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
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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)

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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_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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