CEP78 centrosomal protein 78 [Homo sapiens (human)] - Gene

Summary

Official Symbol: CEP78provided by HGNC
Official Full Name: centrosomal protein 78provided by HGNC
Primary source: HGNC:HGNC:25740
See related: Ensembl:ENSG00000148019 MIM:617110; AllianceGenome:HGNC:25740
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: IP63; CRDHL; C9orf81
Summary: This gene encodes a centrosomal protein that is both required for the regulation of centrosome-related events during the cell cycle, and required for ciliogenesis. The encoded protein has an N-terminal leucine-rich repeat (LRR) domain with six consecutive LRR repeats, and a C-terminal coiled-coil domain. It interacts with the N-terminal catalytic domain of polo-like kinase 4 (PLK4) and colocalizes with PLK4 to the distal end of the centriole. Naturally occurring mutations in this gene cause defects in primary cilia that result in retinal degeneration and sensorineural hearing loss which are associated with cone-rod degeneration disease as well as Usher syndrome. Low expression of this gene is associated with poor prognosis of colorectal cancer patients. [provided by RefSeq, Mar 2017]
Expression: Ubiquitous expression in testis (RPKM 3.5), brain (RPKM 2.3) and 24 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 9q21.2

Exon count:: 18

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	9	NC_000009.12 (78236075..78279690)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	9	NC_060933.1 (90393203..90436832)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	9	NC_000009.11 (80850991..80894606)

Chromosome 9 - NC_000009.12 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?

Loss-of-function mutations in CEP78 cause male infertility in humans and mice.
Title: Loss-of-function mutations in CEP78 cause male infertility in humans and mice.
A novel frameshift variant in CEP78 associated with nonsyndromic retinitis pigmentosa, and a review of CEP78-related phenotypes.
Title: A novel frameshift variant in CEP78 associated with nonsyndromic retinitis pigmentosa, and a review of CEP78-related phenotypes.
Expanding the clinical phenotype in patients with disease causing variants associated with atypical Usher syndrome.
Title: Expanding the clinical phenotype in patients with disease causing variants associated with atypical Usher syndrome.
CEP78 functions downstream of CEP350 to control biogenesis of primary cilia by negatively regulating CP110 levels.
Title: CEP78 functions downstream of CEP350 to control biogenesis of primary cilia by negatively regulating CP110 levels.
Functional characterization of the first missense variant in CEP78, a founder allele associated with cone-rod dystrophy, hearing loss, and reduced male fertility.
Title: Functional characterization of the first missense variant in CEP78, a founder allele associated with cone-rod dystrophy, hearing loss, and reduced male fertility.
Centrosome Protein 78 Is Overexpressed in Muscle-Invasive Bladder Cancer and Is Associated with Tumor Molecular Subtypes and Mutation Signatures.
Title: Centrosome Protein 78 Is Overexpressed in Muscle-Invasive Bladder Cancer and Is Associated with Tumor Molecular Subtypes and Mutation Signatures.
Low CEP78 expression is associated with differentiated thyroid carcinoma.
Title: Significance of CEP78 and WDR62 gene expressions in differentiated thyroid carcinoma: Possible predictors of lateral lymph node metastasis.
Our results provide evidence that CEP78 is a novel disease-causing gene for Usher syndrome, demonstrating an additional link between ciliopathy and Usher protein network in photoreceptor cells and inner ear hair cells.
Title: CEP78 is mutated in a distinct type of Usher syndrome.
we identify Cep78 as a new player that regulates centrosome homeostasis by inhibiting the final step of the enzymatic reaction catalyzed by EDD-DYRK2-DDB1(Vpr)(BP).
Title: Cep78 controls centrosome homeostasis by inhibiting EDD-DYRK2-DDB1(Vpr)(BP).
the interaction between Cep78 and the N-terminal catalytic domain of Plk4 is a new and important element in the centrosome overduplication process.
Title: Cep78 is a new centriolar protein involved in Plk4-induced centriole overduplication.

Submit: New GeneRIF Correction See all GeneRIFs (13)

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
Cone-rod dystrophy and hearing loss 1 MedGen: C5193018 OMIM: 617236 GeneReviews: Not available	Compare labs

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

D9S1980 (e-PCR)
- UniSTS:4873

A008B24 (e-PCR)
- UniSTS:41036

RH78042 (e-PCR)
- UniSTS:72413

Gene Ontology Provided by GOA

Process	Evidence Code	Pubs
involved_in cilium organization	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
located_in centriole	IEA Inferred from Electronic Annotation 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 ciliary basal body	IDA Inferred from Direct Assay more info	PubMed
located_in cytosol	TAS Traceable Author Statement more info

General protein information

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Preferred Names: centrosomal protein of 78 kDa

Names: centrosomal protein 78kDa

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_053171.1 RefSeqGene

Range

5014..48629

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001098802.3 → NP_001092272.1 centrosomal protein of 78 kDa isoform a

Status: REVIEWED

Description

Transcript Variant: This variant (1) encodes the longest isoform (a).

Source sequence(s)

BC058931, BC128058, BE502367, CA429071, DA970400

Consensus CDS

CCDS47984.1

UniProtKB/TrEMBL

A0A2R8Y7A4

Related

ENSP00000365782.4, ENST00000376597.9

Conserved Domains (1) summary

cd00116
Location:108 → 294

LRR_RI; Leucine-rich repeats (LRRs), ribonuclease inhibitor (RI)-like subfamily. LRRs are 20-29 residue sequence motifs present in many proteins that participate in protein-protein interactions and have different functions and cellular locations. LRRs correspond ...
NM_001330691.3 → NP_001317620.1 centrosomal protein of 78 kDa isoform c

Status: REVIEWED

Description

Transcript Variant: This variant (3) uses an alternate splice site in the central coding region, an alternate exon structure in the 3' coding region, and differs in the 3' UTR, compared to variant 1. Variants 3 and 5 encode isoforms that are the same length, but have distinct protein sequences. The encoded isoform (c) is shorter and has a distinct C-terminus, compared to isoform a.

Source sequence(s)

AL353705, BC091515, BE267999, BG287960, BM759819, CB241629, DA935092, DA970400

Consensus CDS

CCDS83376.1

UniProtKB/TrEMBL

A0A2U3TZI9

Related

ENSP00000496423.2, ENST00000643273.2
NM_001330693.3 → NP_001317622.1 centrosomal protein of 78 kDa isoform d

Status: REVIEWED

Description

Transcript Variant: This variant (4) uses an alternate splice site in the central coding region, an alternate exon structure in the 3' coding region, and differs in the 3' UTR, compared to variant 1. The encoded isoform (d) is shorter and has a distinct C-terminus, compared to isoform a.

Source sequence(s)

AL353705, CB241629

Consensus CDS

CCDS83377.1

UniProtKB/Swiss-Prot

A1A4S8, E9PHX5, Q5BJE3, Q5JTW0, Q5JTW1, Q5JTW2, Q9H9N3

UniProtKB/TrEMBL

A0A2R8Y7U5

Related

ENSP00000411284.2, ENST00000424347.6
NM_001330694.2 → NP_001317623.1 centrosomal protein of 78 kDa isoform e

Status: REVIEWED

Description

Transcript Variant: This variant (5) uses an alternate splice site in the central coding region and lacks an alternate exon in the 3' coding region, compared to variant 1. Variants 3 and 5 encode isoforms that are the same length, but have distinct protein sequences. The encoded isoform (e) is shorter than isoform a.

Source sequence(s)

AK022705, AL353705, BE267999, BE502367, DA935092, DA970400, DR156359

Consensus CDS

CCDS83378.1

UniProtKB/TrEMBL

A0A2R8Y5W6, A8MST6

Related

ENSP00000277082.5, ENST00000277082.9
NM_001349838.2 → NP_001336767.1 centrosomal protein of 78 kDa isoform f

Status: REVIEWED

Description

Transcript Variant: This variant (6) uses an alternate splice site in the central coding region, compared to variant 1. The encoded isoform (f) is shorter than isoform a.

Source sequence(s)

AL353705, BE502367

Consensus CDS

CCDS87660.1

UniProtKB/TrEMBL

A0A2R8Y7A4, A0A2R8YCP0

Related

ENSP00000493822.1, ENST00000645398.1

Conserved Domains (1) summary

cl26161
Location:108 → 294

LRR_RI; Leucine-rich repeats (LRRs), ribonuclease inhibitor (RI)-like subfamily. LRRs are 20-29 residue sequence motifs present in many proteins that participate in protein-protein interactions and have different functions and cellular locations. LRRs correspond ...
NM_001349839.2 → NP_001336768.1 centrosomal protein of 78 kDa isoform g

Status: REVIEWED

Description

Transcript Variant: This variant (7) uses an alternate exon structure in the 3' coding region, and differs in the 3' UTR, compared to variant 1. The encoded isoform (g) has a shorter and distinct C-terminus, compared to isoform a.

Source sequence(s)

AL353705, CB241629

UniProtKB/TrEMBL

A0A2U3TZI9

Conserved Domains (1) summary

cl26161
Location:108 → 294

LRR_RI; Leucine-rich repeats (LRRs), ribonuclease inhibitor (RI)-like subfamily. LRRs are 20-29 residue sequence motifs present in many proteins that participate in protein-protein interactions and have different functions and cellular locations. LRRs correspond ...
NM_001349840.2 → NP_001336769.1 centrosomal protein of 78 kDa isoform h

Status: REVIEWED

Description

Transcript Variant: This variant (8) uses an alternate exon structure in the 3' coding region, and differs in the 3' UTR, compared to variant 1. The encoded isoform (h) is shorter and has a distinct C-terminus, compared to isoform a.

Source sequence(s)

AL353705, CB241629

UniProtKB/TrEMBL

A0A2R8Y7U5

Conserved Domains (1) summary

cl26161
Location:108 → 294

LRR_RI; Leucine-rich repeats (LRRs), ribonuclease inhibitor (RI)-like subfamily. LRRs are 20-29 residue sequence motifs present in many proteins that participate in protein-protein interactions and have different functions and cellular locations. LRRs correspond ...
NM_032171.3 → NP_115547.1 centrosomal protein of 78 kDa isoform b

Status: REVIEWED

Description

Transcript Variant: This variant (2) lacks an alternate exon in the 3' coding region compared to variant 1. The encoded isoform (b) is shorter than isoform a.

Source sequence(s)

AK022705, BC058931, BC128058, BE502367, CA429071, DA970400

Consensus CDS

CCDS47985.1

UniProtKB/TrEMBL

A0A2R8Y5W6

Related

ENSP00000399286.2, ENST00000415759.6

Conserved Domains (1) summary

cd00116
Location:108 → 294

LRR_RI; Leucine-rich repeats (LRRs), ribonuclease inhibitor (RI)-like subfamily. LRRs are 20-29 residue sequence motifs present in many proteins that participate in protein-protein interactions and have different functions and cellular locations. LRRs correspond ...