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    Cep104 centrosomal protein 104 [ Mus musculus (house mouse) ]

    Gene ID: 230967, updated on 3-Dec-2024

    Summary

    Official Symbol
    Cep104provided by MGI
    Official Full Name
    centrosomal protein 104provided by MGI
    Primary source
    MGI:MGI:2687282
    See related
    Ensembl:ENSMUSG00000039523 AllianceGenome:MGI:2687282
    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
    Kiaa0562; mKIAA0562; A930027E11
    Summary
    Predicted to enable glutamate binding activity; glycine binding activity; and thienylcyclohexylpiperidine binding activity. Predicted to be located in centriole. Predicted to be active in cilium. Is expressed in cerebral cortex ventricular layer and cortical plate. Human ortholog(s) of this gene implicated in Joubert syndrome 25 and autosomal recessive intellectual developmental disorder 77. Orthologous to human CEP104 (centrosomal protein 104). [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Ubiquitous expression in testis adult (RPKM 18.4), adrenal adult (RPKM 10.5) and 28 other tissues See more
    Orthologs
    NEW
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    Genomic context

    See Cep104 in Genome Data Viewer
    Location:
    4 E2; 4 83.78 cM
    Exon count:
    22
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 4 NC_000070.7 (154059649..154093189)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 4 NC_000070.6 (153975126..154008732)

    Chromosome 4 - NC_000070.7Genomic Context describing neighboring genes Neighboring gene RIKEN cDNA A430005L14 gene Neighboring gene STARR-positive B cell enhancer ABC_E6293 Neighboring gene DNA fragmentation factor, beta subunit Neighboring gene predicted gene, 31566 Neighboring gene leucine rich repeat containing 47 Neighboring gene small integral membrane protein 1 Neighboring gene coiled-coil domain containing 27

    Genomic regions, transcripts, and products

    Expression

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

    Variation

    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)
    • Endonuclease-mediated (4) 

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Clone Names

    • MGC54921

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables glutamate binding ISO
    Inferred from Sequence Orthology
    more info
     
    enables glycine binding ISO
    Inferred from Sequence Orthology
    more info
     
    enables molecular_function ND
    No biological Data available
    more info
     
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables thienylcyclohexylpiperidine binding ISO
    Inferred from Sequence Orthology
    more info
     
    Process Evidence Code Pubs
    involved_in biological_process ND
    No biological Data available
    more info
     
    Component Evidence Code Pubs
    located_in centriole ISO
    Inferred from Sequence Orthology
    more info
     
    located_in centriole ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    located_in centrosome IEA
    Inferred from Electronic Annotation
    more info
     
    is_active_in cilium IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in cilium IEA
    Inferred from Electronic Annotation
    more info
     
    located_in cytoplasm IEA
    Inferred from Electronic Annotation
    more info
     
    located_in spindle pole IEA
    Inferred from Electronic Annotation
    more info
     

    General protein information

    Preferred Names
    centrosomal protein of 104 kDa
    Names
    glycine-, glutamate-, thienylcyclohexylpiperidine-binding protein
    likely ortholog of H. sapiens glycine-, glutamate-, thienylcyclohexylpiperidine-binding protein

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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_001419351.1NP_001406280.1  centrosomal protein of 104 kDa isoform 2

      Status: VALIDATED

      Source sequence(s)
      AL806525
      UniProtKB/TrEMBL
      Q3UE03
    2. NM_177673.3NP_808341.1  centrosomal protein of 104 kDa isoform 1

      See identical proteins and their annotated locations for NP_808341.1

      Status: VALIDATED

      Source sequence(s)
      AL806525
      Consensus CDS
      CCDS19005.1
      UniProtKB/Swiss-Prot
      B1AX97, Q6ZQ95, Q80V31
      UniProtKB/TrEMBL
      Q3UE03
      Related
      ENSMUSP00000040762.9, ENSMUST00000047497.15
      Conserved Domains (1) summary
      sd00044
      Location:431468
      HEAT; HEAT repeat [structural motif]

    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_000070.7 Reference GRCm39 C57BL/6J

      Range
      154059649..154093189
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_006538825.3XP_006538888.1  centrosomal protein of 104 kDa isoform X1

      UniProtKB/TrEMBL
      Q3UE03
      Conserved Domains (1) summary
      sd00044
      Location:431468
      HEAT; HEAT repeat [structural motif]