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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

    Gene LinkOut

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