CEP68 centrosomal protein 68 [Homo sapiens (human)] - Gene

Summary

Official Symbol: CEP68provided by HGNC
Official Full Name: centrosomal protein 68provided by HGNC
Primary source: HGNC:HGNC:29076
See related: Ensembl:ENSG00000011523 MIM:616889; AllianceGenome:HGNC:29076
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: KIAA0582
Summary: Enables protein domain specific binding activity and protein kinase binding activity. Involved in centriole-centriole cohesion and protein localization to organelle. Located in several cellular components, including centriolar satellite; cytosol; and nucleoplasm. [provided by Alliance of Genome Resources, Apr 2022]
Expression: Ubiquitous expression in brain (RPKM 8.3), ovary (RPKM 8.1) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 2p14

Exon count:: 8

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	2	NC_000002.12 (65056416..65087004)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	2	NC_060926.1 (65066038..65096632)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	2	NC_000002.11 (65283550..65314138)

Chromosome 2 - NC_000002.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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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?

Two intronic variants (rs2241160 and rs2241161) were significantly associated with an increased risk of single-NSAID-induced urticaria/angioedema or anaphylaxis (SNIUAA), suggesting CEP68 to be a key player in both types of Non-steroidal anti-inflammatory drugs hypersensitivity.
Title: Polymorphisms in CEP68 gene associated with risk of immediate selective reactions to non-steroidal anti-inflammatory drugs.
CEP68 is important in forming rootletin filaments that branch off centrioles and to modulate the thickness of rootletin fibers.
Title: STED nanoscopy of the centrosome linker reveals a CEP68-organized, periodic rootletin network anchored to a C-Nap1 ring at centrioles.
It has been proposed that the archetypal linker protein Rootletin maintains centrosome cohesion in part through inhibition of VHL-mediated Cep68 degradation.
Title: Rootletin prevents Cep68 from VHL-mediated proteasomal degradation to maintain centrosome cohesion.
The Cep68 protein level needs to be fine-tuned in order to ensure that its direct interactors, such as the microcephaly protein Cep215 and PCNT, function properly.
Title: Centrosomal MCM7 strengthens the Cep68-VHL interaction and excessive MCM7 leads to centrosome splitting resulting from increase in Cep68 ubiquitination and proteasomal degradation.
Cep68 degradation allows Cep215 removal from peripheral pericentriolar material (PCM) preventing centriole separation following disengagement, PCNT cleavage mediates Cep215 removal from core of the PCM to inhibit centriole disengagement and duplication
Title: Degradation of Cep68 and PCNT cleavage mediate Cep215 removal from the PCM to allow centriole separation, disengagement and licensing.
C-terminal 300-400 amino acids of Cep68 are necessary to localize Cep68 to interphase centrosomes while C-terminal 400-500 amino acids might regulate Cep68 dissociation from centrosomes at mitotic onset.
Title: Cep68 can be regulated by Nek2 and SCF complex.
CEP68 gene variants may play an important role in MNSAID-UA susceptibility and, despite the different regulatory mechanisms involved depending on the specific affected organ, in the development of hypersensitivity reactions to NSAIDs.
Title: Variants of CEP68 gene are associated with acute urticaria/angioedema induced by multiple non-steroidal anti-inflammatory drugs.
Centlein complexes with C-Nap1 and Cep68 at the proximal ends of centrioles during interphase.
Title: Centlein mediates an interaction between C-Nap1 and Cep68 to maintain centrosome cohesion.
Findings imply that CEP68 could be a susceptible gene for aspirin intolerance in asthmatics.
Title: Genome-wide and follow-up studies identify CEP68 gene variants associated with risk of aspirin-intolerant asthma.
Observational study and genome-wide association study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
Title: Genome-wide and follow-up studies identify CEP68 gene variants associated with risk of aspirin-intolerant asthma.

Submit: New GeneRIF Correction See all GeneRIFs (12)

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

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

HIV-1 interactions

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Replication interactions

Interaction	Pubs
Knockdown of centrosomal protein 68kDa (CEP68) by siRNA inhibits the early stages of HIV-1 replication in 293T cells infected with VSV-G pseudotyped HIV-1	PubMed

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Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

WI-13176 (e-PCR)
- UniSTS:21297

D8S2279 (e-PCR)
- UniSTS:473907

RH36094 (e-PCR)
- UniSTS:72509

RH18462 (e-PCR)
- UniSTS:23399

WIAF-2140 (e-PCR)
- UniSTS:74607

SHGC-172313 (e-PCR)
- UniSTS:183453

SHGC-32096 (e-PCR)
- UniSTS:39840

RH78511 (e-PCR)
- UniSTS:20174

G20274 (e-PCR)
- UniSTS:44245

A005C28 (e-PCR)
- UniSTS:44246

RH66231 (e-PCR)
- UniSTS:3327

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein domain specific 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 centriole-centriole cohesion	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in centrosome cycle	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in protein localization to organelle	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
located_in cell junction	IDA Inferred from Direct Assay more info
located_in centriolar satellite	IDA Inferred from Direct Assay more info
located_in centrosome	IDA Inferred from Direct Assay more info	PubMed
located_in cytosol	IDA Inferred from Direct Assay more info
located_in nucleoplasm	IDA Inferred from Direct Assay more info

General protein information

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Preferred Names: centrosomal protein of 68 kDa

Names: centrosomal protein 68kDa

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.

mRNA and Protein(s)

NM_001319100.2 → NP_001306029.1 centrosomal protein of 68 kDa isoform a

Status: VALIDATED

Description

Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Variants 1 and 2 both encode the same isoform (a).

Source sequence(s)

AC007318, AC007386, AK299373, CA398160

Consensus CDS

CCDS1880.2

UniProtKB/Swiss-Prot

B4DRQ1, D6W5F1, D6W5F2, O60326, Q76N32, Q9BQ18, Q9UDM9

UniProtKB/TrEMBL

A0A994J534

Related

ENSP00000515601.1, ENST00000703983.1

Conserved Domains (1) summary

PHA03247
Location:286 → 443

PHA03247; large tegument protein UL36; Provisional
NM_001319101.2 → NP_001306030.1 centrosomal protein of 68 kDa isoform b

Status: VALIDATED

Description

Transcript Variant: This variant (3) uses an alternate in-frame splice junction compared to variant 1. The resulting isoform (b) has the same N- and C-termini but is shorter compared to isoform a.

Source sequence(s)

AB011154, AC007318, AC007386, BC004873, CA398160

Consensus CDS

CCDS82457.1

UniProtKB/TrEMBL

A0A994J770

Related

ENSP00000260569.4, ENST00000260569.4

Conserved Domains (1) summary

PHA03247
Location:286 → 443

PHA03247; large tegument protein UL36; Provisional
NM_001410838.1 → NP_001397767.1 centrosomal protein of 68 kDa isoform c

Status: VALIDATED

Source sequence(s)

AC007318, AC007386, AC084278

Consensus CDS

CCDS92772.1

UniProtKB/TrEMBL

A0A994J4E5

Related

ENSP00000515890.1, ENST00000704388.1
NM_015147.3 → NP_055962.2 centrosomal protein of 68 kDa isoform a

See identical proteins and their annotated locations for NP_055962.2

Status: VALIDATED

Description

Transcript Variant: This variant (1) represents the longest transcript and encodes the longer isoform (a). Variants 1 and 2 both encode the same isoform (a).

Source sequence(s)

AB011154, AC007318, CA398160

Consensus CDS

CCDS1880.2

UniProtKB/Swiss-Prot

B4DRQ1, D6W5F1, D6W5F2, O60326, Q76N32, Q9BQ18, Q9UDM9

UniProtKB/TrEMBL

A0A994J534

Related

ENSP00000367229.2, ENST00000377990.7

Conserved Domains (1) summary

PHA03247
Location:286 → 443

PHA03247; large tegument protein UL36; Provisional

RNA

NR_134966.2 RNA Sequence

Status: VALIDATED

Description

Transcript Variant: This variant (4) lacks an alternate exon compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).

Source sequence(s)

AB011154, AC007318, AC007386, AK299373, AK304110, CA398160

Related

ENST00000703915.1