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    CEP126 centrosomal protein 126 [ Homo sapiens (human) ]

    Gene ID: 57562, updated on 5-Mar-2024

    Summary

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    Official Symbol
    CEP126provided by HGNC
    Official Full Name
    centrosomal protein 126provided by HGNC
    Primary source
    HGNC:HGNC:29264
    See related
    Ensembl:ENSG00000110318 MIM:614634; AllianceGenome:HGNC:29264
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    KIAA1377
    Summary
    Involved in cilium assembly; cytoplasmic microtubule organization; and mitotic spindle organization. Located in centrosome; ciliary base; and midbody. [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Broad expression in testis (RPKM 8.6), ovary (RPKM 3.0) and 20 other tissues See more
    Orthologs
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    Genomic context

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    Location:
    11q22.1
    Exon count:
    12
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 11 NC_000011.10 (101915010..102001062)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 11 NC_060935.1 (101916121..102003051)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (101785741..101871793)

    Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene endogenous retrovirus group K member 25 Env polyprotein Neighboring gene H3K27ac hESC enhancer GRCh37_chr11:101578771-101579411 Neighboring gene PLS1 pseudogene 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5433 Neighboring gene angiopoietin like 5 Neighboring gene proline rich 21 pseudogene Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr11:101834504-101835703 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:101880742-101881368 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr11:101881654-101882853 Neighboring gene uncharacterized LOC124902842 Neighboring gene cilia and flagella associated protein 300 Neighboring gene RNA, 5S ribosomal pseudogene 535

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    Related articles in PubMed

    1. Identification of novel mitosis regulators through data mining with human centromere/kinetochore proteins as group queries. Tipton AR, et al. BMC Cell Biol, 2012 Jun 19. PMID 22712476, Free PMC Article
    2. Let-7b-5p inhibits proliferation and motility in squamous cell carcinoma cells through negative modulation of KIAA1377. Zheng S, et al. Cell Biol Int, 2019 Jun. PMID 30958603
    3. Exome sequencing identifies KIAA1377 and C5orf42 as susceptibility genes for monomelic amyotrophy. Lim YM, et al. Neuromuscul Disord, 2012 May. PMID 22264561
    4. Cep126 is required for pericentriolar satellite localisation to the centrosome and for primary cilium formation. Bonavita R, et al. Biol Cell, 2014 Aug. PMID 24867236, Free PMC Article
    5. From midbody protein-protein interaction network construction to novel regulators in cytokinesis. Chen TC, et al. J Proteome Res, 2009 Nov. PMID 19799413

    See all (24) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. It was exhibited that KIAA1377 was able to promote the proliferation and motility of both KYSE-150 and HeLa cells, which can be reverted by re-expression of let-7b-5p. The luciferase reporter assay verified that let-7b-5p can diametrically target KIAA1377. Collectively, our data demonstrated that let-7b-5p can directly but negatively regulate KIAA1377 in SCC cell lines, Ecal109, and HeLa cells.
      Title: Let-7b-5p inhibits proliferation and motility in squamous cell carcinoma cells through negative modulation of KIAA1377.
    2. CEP126 is a regulator of microtubule organisation at the centrosome that acts through modulation of the transport of pericentriolar satellites, and consequently, of the organisation of cell structure
      Title: Cep126 is required for pericentriolar satellite localisation to the centrosome and for primary cilium formation.
    3. KIAA1377 and C5orf42 gene synergistically play a role as susceptibility genes for monomelic amyotrophy.
      Title: Exome sequencing identifies KIAA1377 and C5orf42 as susceptibility genes for monomelic amyotrophy.
    Submit: New GeneRIF Correction

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    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 GOA

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in cilium assembly IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in cilium assembly IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in cytoplasmic microtubule organization IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in cytoplasmic microtubule organization IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in mitotic spindle organization IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in non-motile cilium assembly IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    is_active_in centrosome IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in centrosome IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    is_active_in ciliary base IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in ciliary base IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in cytoplasm IEA
    Inferred from Electronic Annotation
    more info
    		  
    is_active_in midbody IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in midbody IDA
    Inferred from Direct Assay
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    centrosomal protein of 126 kDa
    Names
    centrosomal protein 126kDa

    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_001363543.2 → NP_001350472.1  centrosomal protein of 126 kDa isoform 2

      Status: VALIDATED

      Source sequence(s)
      AP003383, KF455480
      UniProtKB/TrEMBL
      B4DK21
      Conserved Domains (1) summary
      pfam15352
      Location:1 → 882
      K1377; Susceptibility to monomelic amyotrophy

    2. NM_020802.4 → NP_065853.3  centrosomal protein of 126 kDa isoform 1

      Status: VALIDATED

      Source sequence(s)
      AB037798, AP003383, BX647415, DB455438
      Consensus CDS
      CCDS31658.1
      UniProtKB/Swiss-Prot
      Q4G0U6, Q9P2H0
      UniProtKB/TrEMBL
      B3KT58
      Related
      ENSP00000263468.8, ENST00000263468.13
      Conserved Domains (1) summary
      pfam15352
      Location:105 → 1081
      K1377; Susceptibility to monomelic amyotrophy

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000011.10 Reference GRCh38.p14 Primary Assembly

      Range
      101915010..102001062
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060935.1 Alternate T2T-CHM13v2.0

      Range
      101916121..102003051
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9P2H0.4 GenPept UniProtKB/Swiss-Prot:Q9P2H0

    Gene LinkOut

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

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