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Cep78 centrosomal protein 78 [ Mus musculus (house mouse) ]

Gene ID: 208518, updated on 28-Oct-2024

Summary

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Official Symbol
Cep78provided by MGI
Official Full Name
centrosomal protein 78provided by MGI
Primary source
MGI:MGI:1924386
See related
Ensembl:ENSMUSG00000041491 AllianceGenome:MGI:1924386
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Mus musculus
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as
D030027P05; 5730599I05Rik
Summary
Involved in cilium organization; flagellated sperm motility; and protein localization to cilium. Predicted to be located in cytoplasm. Predicted to be active in centriole; centrosome; and ciliary basal body. Is expressed in eye. Orthologous to human CEP78 (centrosomal protein 78). [provided by Alliance of Genome Resources, Oct 2024]
Expression
Broad expression in CNS E11.5 (RPKM 11.0), CNS E14 (RPKM 7.9) and 26 other tissues See more
Orthologs
human all
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Genomic context

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See Cep78 in Genome Data Viewer
Location:
19 A; 19 10.89 cM
Exon count:
16
Annotation release Status Assembly Chr Location
RS_2024_02 current GRCm39 (GCF_000001635.27) 19 NC_000085.7 (15933134..15962396, complement)
108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 19 NC_000085.6 (15955768..15985700, complement)

Chromosome 19 - NC_000085.7Genomic Context describing neighboring genes Neighboring gene predicted gene, 54054 Neighboring gene predicted gene, 24319 Neighboring gene STARR-seq mESC enhancer starr_45641 Neighboring gene STARR-seq mESC enhancer starr_45643 Neighboring gene STARR-seq mESC enhancer starr_45644 Neighboring gene STARR-seq mESC enhancer starr_45645 Neighboring gene STARR-positive B cell enhancer ABC_E11025 Neighboring gene CapStarr-seq enhancer MGSCv37_chr19:15999466-15999649 Neighboring gene phosphoserine aminotransferase 1 Neighboring gene RIKEN cDNA C130060C02 gene Neighboring gene STARR-positive B cell enhancer ABC_E4269 Neighboring gene ribosomal protein 37, pseudogene 1

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: Mouse ENCODE transcriptome data Mouse ENCODE transcriptome data
  • Description: RNA profiling data sets generated by the Mouse ENCODE project.
  • BioProject: PRJNA66167
  • Publication: PMID 25409824
  • Analysis date: n/a

Bibliography

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Related articles in PubMed

  1. Loss-of-function mutations in CEP78 cause male infertility in humans and mice. Zhang X, et al. Sci Adv, 2022 Oct 7. PMID 36206347, Free PMC Article
  2. Absence of CEP78 causes photoreceptor and sperm flagella impairments in mice and a human individual. Zhu T, et al. Elife, 2023 Feb 9. PMID 36756949, Free PMC Article
  3. Mutations in CEP78 Cause Cone-Rod Dystrophy and Hearing Loss Associated with Primary-Cilia Defects. Nikopoulos K, et al. Am J Hum Genet, 2016 Sep 1. PMID 27588451, Free PMC Article
  4. Systematic analysis of human protein complexes identifies chromosome segregation proteins. Hutchins JR, et al. Science, 2010 Apr 30. PMID 20360068, Free PMC Article
  5. Database resources of the National Center for Biotechnology Information. Wheeler DL, et al. Nucleic Acids Res, 2001 Jan 1. PMID 11125038, Free PMC Article

See all (19) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Absence of CEP78 causes photoreceptor and sperm flagella impairments in mice and a human individual.
    Title: Absence of CEP78 causes photoreceptor and sperm flagella impairments in mice and a human individual.
  2. 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.
Submit: New GeneRIF Correction

Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics  (MGI)

Pathways from PubChem

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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

Homology

Gene Ontology Provided by MGI

Function Evidence Code Pubs
enables molecular_function ND
No biological Data available
more info
  
Process Evidence Code Pubs
involved_in cilium organization IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in cilium organization IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in cilium organization ISO
Inferred from Sequence Orthology
more info
  
involved_in cilium organization ISS
Inferred from Sequence or Structural Similarity
more info
  
involved_in flagellated sperm motility IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in negative regulation of protein ubiquitination ISS
Inferred from Sequence or Structural Similarity
more info
  
involved_in protein localization to centrosome ISS
Inferred from Sequence or Structural Similarity
more info
  
involved_in protein localization to cilium IMP
Inferred from Mutant Phenotype
more info
 PubMed 
Component Evidence Code Pubs
located_in centriole ISO
Inferred from Sequence Orthology
more info
  
is_active_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 ISO
Inferred from Sequence Orthology
more info
  
is_active_in ciliary basal body IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in ciliary basal body ISO
Inferred from Sequence Orthology
more info
  
located_in ciliary basal body ISS
Inferred from Sequence or Structural Similarity
more info
  
located_in cytoplasm IEA
Inferred from Electronic Annotation
more info
  

General protein information

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Preferred Names
centrosomal protein of 78 kDa

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)

  1. NM_198019.2 → NP_932136.2  centrosomal protein of 78 kDa

    See identical proteins and their annotated locations for NP_932136.2

    Status: VALIDATED

    Source sequence(s)
    BC070400
    Consensus CDS
    CCDS29682.1
    UniProtKB/Swiss-Prot
    Q6IRU7
    Related
    ENSMUSP00000037596.8, ENSMUST00000047704.8
    Conserved Domains (2) summary
    cd00116
    Location:113 → 299
    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 ...
    cl03075
    Location:431 → 498
    GrpE; nucleotide exchange factor GrpE

RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCm39 C57BL/6J

Genomic

  1. NC_000085.7 Reference GRCm39 C57BL/6J

    Range
    15933134..15962396 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_006526825.5 → XP_006526888.1  centrosomal protein of 78 kDa isoform X6

    Conserved Domains (2) summary
    cl03075
    Location:431 → 498
    GrpE; nucleotide exchange factor GrpE
    cl39015
    Location:113 → 299
    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_006526823.3 → XP_006526886.1  centrosomal protein of 78 kDa isoform X1

    Conserved Domains (1) summary
    cl39015
    Location:113 → 299
    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 ...

  3. XM_036161498.1 → XP_036017391.1  centrosomal protein of 78 kDa isoform X2

    Conserved Domains (1) summary
    cl39015
    Location:113 → 299
    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 ...

  4. XM_006526826.5 → XP_006526889.1  centrosomal protein of 78 kDa isoform X5

    Conserved Domains (2) summary
    cl03075
    Location:231 → 298
    GrpE; nucleotide exchange factor GrpE
    cl39015
    Location:45 → 103
    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 ...

  5. XM_006526824.3 → XP_006526887.1  centrosomal protein of 78 kDa isoform X3

    Conserved Domains (1) summary
    cl39015
    Location:113 → 299
    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. XM_017318106.3 → XP_017173595.1  centrosomal protein of 78 kDa isoform X4

    UniProtKB/TrEMBL
    A0A494BA29
    Related
    ENSMUSP00000157915.2, ENSMUST00000235718.2
    Conserved Domains (2) summary
    cl03075
    Location:431 → 498
    GrpE; nucleotide exchange factor GrpE
    cl39015
    Location:113 → 299
    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. XM_030250838.2 → XP_030106698.1  centrosomal protein of 78 kDa isoform X7

    Conserved Domains (2) summary
    cl03075
    Location:231 → 298
    GrpE; nucleotide exchange factor GrpE
    cl39015
    Location:45 → 103
    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 ...
Nucleotide Protein Strain
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q6IRU7.1 GenPept UniProtKB/Swiss-Prot:Q6IRU7

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