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CEP126 centrosomal protein 126 [ Homo sapiens (human) ]

Gene ID: 57562, updated on 5-Sep-2021

Summary

Official Symbol
CEP126provided by HGNC
Official Full Name
centrosomal protein 126provided by HGNC
Primary source
HGNC:HGNC:29264
See related
Ensembl:ENSG00000110318 MIM:614634
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
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

See CEP126 in Genome Data Viewer
Location:
11q22.1
Exon count:
12
Annotation release Status Assembly Chr Location
109.20210514 current GRCh38.p13 (GCF_000001405.39) 11 NC_000011.10 (101915010..102001062)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (101785741..101871793)

Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene KIAA1191 pseudogene Neighboring gene plastin 1 pseudogene Neighboring gene angiopoietin like 5 Neighboring gene proline rich 21 pseudogene Neighboring gene RNA, 5S ribosomal pseudogene 535 Neighboring gene cilia and flagella associated protein 300 Neighboring gene Yes1 associated transcriptional regulator

Genomic regions, transcripts, and products

Expression

  • 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

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

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
PubMed 
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
PubMed 
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
PubMed 
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
PubMed 
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
PubMed 
located_in midbody IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

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

    Status: VALIDATED

    Source sequence(s)
    AP003383, KF455480
    Conserved Domains (1) summary
    pfam15352
    Location:1882
    K1377; Susceptibility to monomelic amyotrophy
  2. NM_020802.4NP_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
    Q9P2H0
    Related
    ENSP00000263468.8, ENST00000263468.13
    Conserved Domains (1) summary
    pfam15352
    Location:1051081
    K1377; Susceptibility to monomelic amyotrophy

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20210514

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000011.10 Reference GRCh38.p13 Primary Assembly

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