CEP120 centrosomal protein 120 [Homo sapiens (human)] - Gene

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; AllianceGenome:HGNC:26690
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: mouse all
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Genomic context

Location:: 5q23.2

Exon count:: 26

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	5	NC_000005.10 (123344892..123423842, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	5	NC_060929.1 (123861091..123940041, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	5	NC_000005.9 (122680586..122759536, complement)

Chromosome 5 - NC_000005.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

RNA sequencing reveals deep intronic CEP120 variant: A report of the diagnostic odyssey for two siblings with Joubert syndrome type 31.
Title: RNA sequencing reveals deep intronic CEP120 variant: A report of the diagnostic odyssey for two siblings with Joubert syndrome type 31.
CEP120-mediated KIAA0753 recruitment onto centrioles is required for timely neuronal differentiation and germinal zone exit in the developing cerebellum.
Title: CEP120-mediated KIAA0753 recruitment onto centrioles is required for timely neuronal differentiation and germinal zone exit in the developing cerebellum.
Update of genetic variants in CEP120 and CC2D2A-With an emphasis on genotype-phenotype correlations, tissue specific transcripts and exploring mutation specific exon skipping therapies.
Title: Update of genetic variants in CEP120 and CC2D2A-With an emphasis on genotype-phenotype correlations, tissue specific transcripts and exploring mutation specific exon skipping therapies.
Expression patterns of ciliopathy genes ARL3 and CEP120 reveal roles in multisystem development.
Title: Expression patterns of ciliopathy genes ARL3 and CEP120 reveal roles in multisystem development.
Exome sequencing links CEP120 mutation to maternally derived aneuploid conception risk.
Title: Exome sequencing links CEP120 mutation to maternally derived aneuploid conception risk.
CEP120 interacts with C2CD3 and Talpid3 and is required for centriole appendage assembly and ciliogenesis.
Title: CEP120 interacts with C2CD3 and Talpid3 and is required for centriole appendage assembly and ciliogenesis.
the ciliopathy-associated centriolar protein CEP120 contains three C2 domains.
Title: Disease-Associated Mutations in CEP120 Destabilize the Protein and Impair Ciliogenesis.
These results indicate that Cep120 helps to maintain centrosome homeostasis by inhibiting untimely maturation of the daughter centriole, and defines a potentially new molecular defect underlying the pathogenesis of ciliopathies such as Jeune Asphyxiating Thoracic Dystrophy and Joubert syndrome.
Title: A novel Cep120-dependent mechanism inhibits centriole maturation in quiescent cells.
The CEP120-associated phenotype ranges from mild classical JS in four patients to more severe conditions in two fetuses.
Title: Mutations in CEP120 cause Joubert syndrome as well as complex ciliopathy phenotypes.
We establish a novel locus for Jeune asphyxiating thoracic dystrophy on 5q23.2 by linkage analysis and demonstrate that a mutation in CEP120 within this locus is the most likely cause of the disease.
Title: A founder CEP120 mutation in Jeune asphyxiating thoracic dystrophy expands the role of centriolar proteins in skeletal ciliopathies.

Submit: New GeneRIF Correction See all GeneRIFs (14)

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
Joubert syndrome 31 MedGen: C4540355 OMIM: 617761 GeneReviews: Joubert Syndrome	Compare labs
Short-rib thoracic dysplasia 13 with or without polydactyly MedGen: C4225378 OMIM: 616300 GeneReviews: Not available	Compare labs

EBI GWAS Catalog

Description
Genetic variants associated with cardiac structure and function: a meta-analysis and replication of genome-wide association data. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide association for abdominal subcutaneous and visceral adipose reveals a novel locus for visceral fat in women. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide association yields new sequence variants at seven loci that associate with measures of obesity. EBI GWAS Catalog EBI GWAS CatalogPubMed
Hundreds of variants clustered in genomic loci and biological pathways affect human height. EBI GWAS Catalog EBI GWAS CatalogPubMed
Meta-analysis of genome-wide association studies of adult height in East Asians identifies 17 novel loci. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

STS-H99380 (e-PCR)
- UniSTS:35941

RH98859 (e-PCR)
- UniSTS:91530

RH92910 (e-PCR)
- UniSTS:89244

SHGC-64745 (e-PCR)
- UniSTS:100775

D5S1779 (e-PCR)
- UniSTS:153591

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
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	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
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
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
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
located_in centrosome	IDA Inferred from Direct Assay more info	PubMed
located_in cytoplasm	IEA Inferred from Electronic Annotation more info

General protein information

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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

NG_042125.1 RefSeqGene

Range

5190..83701

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001166226.2 → NP_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/TrEMBL

A0A6Q8PGD1

Related

ENSP00000307419.6, ENST00000306481.11

Conserved Domains (5) summary

cd00030
Location:504 → 537

C2; C2 domain

pfam08647
Location:648 → 765

BRE1; BRE1 E3 ubiquitin ligase

pfam12416
Location:92 → 314

DUF3668; Cep120 protein

pfam17045
Location:636 → 891

CEP63; Centrosomal protein of 63 kDa

cl12013
Location:713 → 891

BAR; The Bin/Amphiphysin/Rvs (BAR) domain, a dimerization module that binds membranes and detects membrane curvature
NM_001375405.1 → NP_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

Consensus CDS

CCDS4134.2

UniProtKB/Swiss-Prot

Q6AI52, Q6AW89, Q8IWB5, Q8N960, Q8N9Y0, Q8NDE8

UniProtKB/TrEMBL

A0A6Q8PGD1

Related

ENSP00000303058.6, ENST00000306467.10

Conserved Domains (3) summary

COG1196
Location:640 → 917

Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]

pfam12416
Location:118 → 340

DUF3668; Cep120 protein

cl14603
Location:9 → 114

C2; C2 domain
NM_001375406.1 → NP_001362335.1 centrosomal protein of 120 kDa isoform 3

Status: REVIEWED

Source sequence(s)

AC010369, AC106792, KC877115, KC877116

Consensus CDS

CCDS93770.1

UniProtKB/TrEMBL

A0A6Q8PGD1, A0A6Q8PH95

Related

ENSP00000502634.1, ENST00000675330.1

Conserved Domains (3) summary

COG1196
Location:595 → 872

Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]

pfam12416
Location:118 → 340

DUF3668; Cep120 protein

cl14603
Location:9 → 114

C2; C2 domain
NM_001375407.1 → NP_001362336.1 centrosomal protein of 120 kDa isoform 4

Status: REVIEWED

Source sequence(s)

AC010369, AC106792, KC877115, KC877116

Consensus CDS

CCDS93771.1

UniProtKB/TrEMBL

A0A6Q8PF83, D6REX9

Related

ENSP00000501697.1, ENST00000674684.1

Conserved Domains (3) summary

COG1196
Location:640 → 913

Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]

pfam12416
Location:118 → 340

DUF3668; Cep120 protein

cl14603
Location:9 → 114

C2; C2 domain
NM_001375408.1 → NP_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

UniProtKB/TrEMBL

A0A6Q8PGD1

Conserved Domains (2) summary

COG1196
Location:461 → 726

Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]

pfam12416
Location:1 → 149

DUF3668; Cep120 protein
NM_001375409.1 → NP_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

UniProtKB/TrEMBL

A0A6Q8PGD1

Conserved Domains (2) summary

COG1196
Location:461 → 726

Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]

pfam12416
Location:1 → 149

DUF3668; Cep120 protein
NM_153223.4 → NP_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

Q6AI52, Q6AW89, Q8IWB5, Q8N960, Q8N9Y0, Q8NDE8

UniProtKB/TrEMBL

A0A6Q8PGD1

Related

ENSP00000327504.5, ENST00000328236.10

Conserved Domains (3) summary

COG1196
Location:640 → 917

Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]

pfam12416
Location:118 → 340

DUF3668; Cep120 protein

cl14603
Location:9 → 114

C2; C2 domain

RNA

NR_164685.1 RNA Sequence

Status: REVIEWED

Source sequence(s)

AC010369, AC106792, KC877115, KC877116

Related

ENST00000674667.1

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

NC_000005.10 Reference GRCh38.p14 Primary Assembly

Range

123344892..123423842 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_047416803.1 → XP_047272759.1 centrosomal protein of 120 kDa isoform X2

UniProtKB/TrEMBL

A0A6Q8PGD1
XM_011543185.3 → XP_011541487.1 centrosomal protein of 120 kDa isoform X1

See identical proteins and their annotated locations for XP_011541487.1

UniProtKB/TrEMBL

A0A6Q8PGD1

Related

ENSP00000421620.3, ENST00000508442.7

Conserved Domains (5) summary

cd00030
Location:504 → 537

C2; C2 domain

pfam08647
Location:648 → 765

BRE1; BRE1 E3 ubiquitin ligase

pfam12416
Location:92 → 314

DUF3668; Cep120 protein

pfam17045
Location:636 → 891

CEP63; Centrosomal protein of 63 kDa

cl12013
Location:713 → 891

BAR; The Bin/Amphiphysin/Rvs (BAR) domain, a dimerization module that binds membranes and detects membrane curvature
XM_017009085.2 → XP_016864574.1 centrosomal protein of 120 kDa isoform X3

UniProtKB/Swiss-Prot

Q8N960

Conserved Domains (3) summary

cd00030
Location:41 → 74

C2; C2 domain

pfam17045
Location:175 → 428

CEP63; Centrosomal protein of 63 kDa

cl19219
Location:281 → 347

DUF342; Protein of unknown function (DUF342)

Alternate T2T-CHM13v2.0

Genomic

NC_060929.1 Alternate T2T-CHM13v2.0

Range

123861091..123940041 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_054351770.1 → XP_054207745.1 centrosomal protein of 120 kDa isoform X2

UniProtKB/TrEMBL

A0A6Q8PGD1
XM_054351769.1 → XP_054207744.1 centrosomal protein of 120 kDa isoform X1

UniProtKB/TrEMBL

A0A6Q8PGD1
XM_054351771.1 → XP_054207746.1 centrosomal protein of 120 kDa isoform X3