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CEP78 centrosomal protein 78 [ Homo sapiens (human) ]

Gene ID: 84131, updated on 26-Jul-2021

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
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
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Genomic context

See CEP78 in Genome Data Viewer
Location:
9q21.2
Exon count:
17
Annotation release Status Assembly Chr Location
109.20210514 current GRCh38.p13 (GCF_000001405.39) 9 NC_000009.12 (78236075..78279690)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 9 NC_000009.11 (80850991..80894606)

Chromosome 9 - NC_000009.12Genomic Context describing neighboring genes Neighboring gene ribosomal protein L21 pseudogene 84 Neighboring gene cyclin-dependent kinases regulatory subunit 2 pseudogene Neighboring gene phosphoserine aminotransferase 1 Neighboring gene uncharacterized LOC107987083 Neighboring gene VISTA enhancer hs1530

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?

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ12643, FLJ52093, MGC135040

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
PubMed 
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

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

  1. NG_053171.1 RefSeqGene

    Range
    5014..48629
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001098802.3NP_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/Swiss-Prot
    Q5JTW2
    Related
    ENSP00000365782.4, ENST00000376597.9
    Conserved Domains (1) summary
    cd00116
    Location:108294
    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 ...
  2. NM_001330691.3NP_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/Swiss-Prot
    Q5JTW2
    Related
    ENSP00000496423.2, ENST00000643273.2
  3. NM_001330693.3NP_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
    Q5JTW2
    Related
    ENSP00000411284.2, ENST00000424347.6
  4. NM_001330694.2NP_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/Swiss-Prot
    Q5JTW2
    UniProtKB/TrEMBL
    A8MST6
    Related
    ENSP00000277082.5, ENST00000277082.9
  5. NM_001349838.2NP_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
    Related
    ENSP00000493822.1, ENST00000645398.1
    Conserved Domains (1) summary
    cl26161
    Location:108294
    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 ...
  6. NM_001349839.2NP_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
    Conserved Domains (1) summary
    cl26161
    Location:108294
    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 ...
  7. NM_001349840.2NP_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
    Conserved Domains (1) summary
    cl26161
    Location:108294
    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 ...
  8. NM_032171.3NP_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/Swiss-Prot
    Q5JTW2
    Related
    ENSP00000399286.2, ENST00000415759.6
    Conserved Domains (1) summary
    cd00116
    Location:108294
    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 ...

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_000009.12 Reference GRCh38.p13 Primary Assembly

    Range
    78236075..78279690
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_005252266.4XP_005252323.1  centrosomal protein of 78 kDa isoform X1

    Conserved Domains (1) summary
    cd00116
    Location:21207
    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 ...
  2. XM_017015196.1XP_016870685.1  centrosomal protein of 78 kDa isoform X2

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