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

Gene ID: 234915, updated on 21-Apr-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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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)
  • Targeted (2) 
  • Endonuclease-mediated (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

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