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    Cep126 centrosomal protein 126 [ Mus musculus (house mouse) ]

    Gene ID: 234915, updated on 12-May-2024

    Summary

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    Official Symbol
    Cep126provided by MGI
    Official Full Name
    centrosomal protein 126provided by MGI
    Primary source
    MGI:MGI:2680221
    See related
    Ensembl:ENSMUSG00000040729 AllianceGenome:MGI:2680221
    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
    mKIAA1377
    Summary
    Predicted to be involved in cilium assembly; cytoplasmic microtubule organization; and mitotic spindle organization. Predicted to be located in cell projection; cytoplasm; and cytoskeleton. Predicted to be active in centrosome; ciliary base; and midbody. Is expressed in several structures, including brain; genitourinary system; gut; hemolymphoid system gland; and respiratory system. Orthologous to human CEP126 (centrosomal protein 126). [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Biased expression in testis adult (RPKM 14.5), cerebellum adult (RPKM 2.4) and 10 other tissues See more
    Orthologs
    human all
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    Genomic context

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    See Cep126 in Genome Data Viewer
    Location:
    9 A1; 9 2.46 cM
    Exon count:
    13
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 9 NC_000075.7 (8076461..8134473, complement)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 9 NC_000075.6 (8076460..8134479, complement)

    Chromosome 9 - NC_000075.7Genomic Context describing neighboring genes Neighboring gene STARR-seq mESC enhancer starr_23234 Neighboring gene yes-associated protein 1 Neighboring gene STARR-seq mESC enhancer starr_23236 Neighboring gene STARR-seq mESC enhancer starr_23238 Neighboring gene STARR-seq mESC enhancer starr_23239 Neighboring gene cilia and flagella associated protein 300 Neighboring gene angiopoietin-related protein 5 pseudogene Neighboring gene predicted gene 7495 Neighboring gene STARR-seq mESC enhancer starr_23241 Neighboring gene U1-snRNP binding protein homolog pseudogene

    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
    • 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. Prediction of the coding sequences of mouse homologues of KIAA gene: III. the complete nucleotide sequences of 500 mouse KIAA-homologous cDNAs identified by screening of terminal sequences of cDNA clones randomly sampled from size-fractionated libraries. Okazaki N, et al. DNA Res, 2003 Aug 31. PMID 14621295
    2. The International Mouse Phenotyping Consortium Web Portal, a unified point of access for knockout mice and related phenotyping data. Koscielny G, et al. Nucleic Acids Res, 2014 Jan. PMID 24194600, Free PMC Article
    3. BraInMap Elucidates the Macromolecular Connectivity Landscape of Mammalian Brain. Pourhaghighi R, et al. Cell Syst, 2020 Apr 22. PMID 32325033, Free PMC Article
    4. Normalization and subtraction: two approaches to facilitate gene discovery. Bonaldo MF, et al. Genome Res, 1996 Sep. PMID 8889548
    5. A high-resolution anatomical atlas of the transcriptome in the mouse embryo. Diez-Roux G, et al. PLoS Biol, 2011 Jan 18. PMID 21267068, Free PMC Article

    See all (14) citations in PubMed

    GeneRIFs: Gene References Into Functions

    Variation

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    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)
    • Endonuclease-mediated (2) 
    • Targeted (2) 

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • KIAA1377

    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 assembly IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in cilium assembly ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in cytoplasmic microtubule organization IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in cytoplasmic microtubule organization ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in mitotic spindle organization ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in non-motile cilium assembly IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    located_in cell projection IEA
    Inferred from Electronic Annotation
    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 base IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in ciliary base ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in cytoplasm IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in cytoskeleton IEA
    Inferred from Electronic Annotation
    more info
    		  
    is_active_in midbody IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in midbody ISO
    Inferred from Sequence Orthology
    more info
    		  

    General protein information

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    Preferred Names
    centrosomal protein of 126 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_001045524.2 → NP_001038989.1  centrosomal protein of 126 kDa isoform 1

      See identical proteins and their annotated locations for NP_001038989.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
      Source sequence(s)
      BB610143, BC120489
      Consensus CDS
      CCDS40534.1
      UniProtKB/Swiss-Prot
      Q0VBV7, Q6ZPS8
      Related
      ENSMUSP00000042904.7, ENSMUST00000037397.8
      Conserved Domains (2) summary
      pfam13863
      Location:44 → 115
      DUF4200; Domain of unknown function (DUF4200)
      pfam15352
      Location:100 → 1061
      K1377; Susceptibility to monomelic amyotrophy

    2. NM_001368148.1 → NP_001355077.1  centrosomal protein of 126 kDa isoform 2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR and coding sequence compared to variant 1. The resulting isoform (2) is shorter at the N-terminus compared to isoform 1.
      Source sequence(s)
      AC132355
      Conserved Domains (1) summary
      pfam15352
      Location:1 → 866
      K1377; Susceptibility to monomelic amyotrophy

    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_000075.7 Reference GRCm39 C57BL/6J

      Range
      8076461..8134473 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_006509862.5 → XP_006509925.1  centrosomal protein of 126 kDa isoform X1

      Conserved Domains (2) summary
      pfam13868
      Location:46 → 105
      TPH; Trichohyalin-plectin-homology domain
      pfam15352
      Location:100 → 1061
      K1377; Susceptibility to monomelic amyotrophy

    2. XM_030244275.2 → XP_030100135.1  centrosomal protein of 126 kDa isoform X3

      Conserved Domains (1) summary
      pfam15352
      Location:1 → 867
      K1377; Susceptibility to monomelic amyotrophy

    3. XM_030244276.2 → XP_030100136.1  centrosomal protein of 126 kDa isoform X3

      Conserved Domains (1) summary
      pfam15352
      Location:1 → 867
      K1377; Susceptibility to monomelic amyotrophy

    4. XM_036154858.1 → XP_036010751.1  centrosomal protein of 126 kDa isoform X5

      Conserved Domains (1) summary
      pfam15352
      Location:1 → 866
      K1377; Susceptibility to monomelic amyotrophy

    5. XM_036154857.1 → XP_036010750.1  centrosomal protein of 126 kDa isoform X5

      Conserved Domains (1) summary
      pfam15352
      Location:1 → 866
      K1377; Susceptibility to monomelic amyotrophy

    6. XM_036154856.1 → XP_036010749.1  centrosomal protein of 126 kDa isoform X4

      Conserved Domains (1) summary
      pfam15352
      Location:1 → 866
      K1377; Susceptibility to monomelic amyotrophy

    7. XM_006509863.5 → XP_006509926.1  centrosomal protein of 126 kDa isoform X2

      Conserved Domains (2) summary
      pfam13868
      Location:46 → 105
      TPH; Trichohyalin-plectin-homology domain
      pfam15352
      Location:100 → 1061
      K1377; Susceptibility to monomelic amyotrophy
    Nucleotide Protein Strain
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q0VBV7.1 GenPept UniProtKB/Swiss-Prot:Q0VBV7

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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