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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

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