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Aliases for CEP126 Gene

Aliases for CEP126 Gene

  • Centrosomal Protein 126 2 3
  • Centrosomal Protein 126kDa 2 3 5
  • KIAA1377 2 3 4

External Ids for CEP126 Gene

Previous HGNC Symbols for CEP126 Gene

  • KIAA1377

Summaries for CEP126 Gene

GeneCards Summary for CEP126 Gene

CEP126 (Centrosomal Protein 126) is a Protein Coding gene. Diseases associated with CEP126 include monomelic amyotrophy.

UniProtKB/Swiss-Prot for CEP126 Gene

  • Participates in cytokinesis (PubMed:19799413). Necessary for microtubules and mitotic spindle organization (PubMed:24867236). Involved in primary cilium formation (PubMed:24867236).

Gene Wiki entry for CEP126 Gene

No data available for Entrez Gene Summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for CEP126 Gene

Genomics for CEP126 Gene

Regulatory Elements for CEP126 Gene

Enhancers for CEP126 Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around CEP126 on UCSC Golden Path with GeneCards custom track

Promoters for CEP126 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around CEP126 on UCSC Golden Path with GeneCards custom track

Genomic Location for CEP126 Gene

Chromosome:
11
Start:
101,915,015 bp from pter
End:
102,001,065 bp from pter
Size:
86,051 bases
Orientation:
Plus strand

Genomic View for CEP126 Gene

Genes around CEP126 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
CEP126 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for CEP126 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CEP126 Gene

Proteins for CEP126 Gene

  • Protein details for CEP126 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9P2H0-CE126_HUMAN
    Recommended name:
    Centrosomal protein of 126 kDa
    Protein Accession:
    Q9P2H0
    Secondary Accessions:
    • Q4G0U6

    Protein attributes for CEP126 Gene

    Size:
    1117 amino acids
    Molecular mass:
    125870 Da
    Quaternary structure:
    • Interacts with DCTN1.
    Miscellaneous:
    • Depletion of CEP126 by siRNA results in an increase in cytokinesis aberrant cells.

neXtProt entry for CEP126 Gene

Proteomics data for CEP126 Gene at MOPED

Post-translational modifications for CEP126 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for CEP126 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for CEP126 Gene

Domains & Families for CEP126 Gene

Protein Domains for CEP126 Gene

InterPro:
ProtoNet:

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with CEP126: view

No data available for Gene Families , Suggested Antigen Peptide Sequences and UniProtKB/Swiss-Prot for CEP126 Gene

Function for CEP126 Gene

Molecular function for CEP126 Gene

UniProtKB/Swiss-Prot Function:
Participates in cytokinesis (PubMed:19799413). Necessary for microtubules and mitotic spindle organization (PubMed:24867236). Involved in primary cilium formation (PubMed:24867236).

Phenotypes for CEP126 Gene

GenomeRNAi human phenotypes for CEP126:
genes like me logo Genes that share phenotypes with CEP126: view

Human Phenotype Ontology for CEP126 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

miRNA for CEP126 Gene

miRTarBase miRNAs that target CEP126

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Animal Models , Transcription Factor Targets and HOMER Transcription for CEP126 Gene

Localization for CEP126 Gene

Subcellular locations from UniProtKB/Swiss-Prot for CEP126 Gene

Midbody. Cytoplasm, cytoskeleton, microtubule organizing center, centrosome. Cytoplasm, cytoskeleton, cilium basal body.

Gene Ontology (GO) - Cellular Components for CEP126 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA --
GO:0030496 midbody IEA --
genes like me logo Genes that share ontologies with CEP126: view

No data available for Subcellular locations from COMPARTMENTS for CEP126 Gene

Pathways & Interactions for CEP126 Gene

SuperPathways for CEP126 Gene

No Data Available

Gene Ontology (GO) - Biological Process for CEP126 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0035058 nonmotile primary cilium assembly IEA --
genes like me logo Genes that share ontologies with CEP126: view

No data available for Pathways by source and SIGNOR curated interactions for CEP126 Gene

Drugs & Compounds for CEP126 Gene

No Compound Related Data Available

Transcripts for CEP126 Gene

Alternative Splicing Database (ASD) splice patterns (SP) for CEP126 Gene

No ASD Table

Relevant External Links for CEP126 Gene

GeneLoc Exon Structure for
CEP126
ECgene alternative splicing isoforms for
CEP126

Expression for CEP126 Gene

mRNA expression in normal human tissues for CEP126 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for CEP126 Gene

This gene is overexpressed in Monocytes (50.4) and NK cells (18.4).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for CEP126 Gene



mRNA Expression by UniProt/SwissProt for CEP126 Gene

Q9P2H0-CE126_HUMAN
Tissue specificity: Expressed in brain, lung, skeletal muscle, kidney, pancreas, testis and ovary.
genes like me logo Genes that share expression patterns with CEP126: view

Protein tissue co-expression partners for CEP126 Gene

- Elite partner

Primer Products

In Situ Assay Products

No data available for mRNA differential expression in normal tissues for CEP126 Gene

Orthologs for CEP126 Gene

This gene was present in the common ancestor of chordates.

Orthologs for CEP126 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia KIAA1377 35
  • 83.99 (n)
  • 73.16 (a)
KIAA1377 36
  • 61 (a)
OneToOne
dog
(Canis familiaris)
Mammalia KIAA1377 35
  • 81.72 (n)
  • 70.33 (a)
KIAA1377 36
  • 70 (a)
OneToOne
mouse
(Mus musculus)
Mammalia AK129341 35
  • 76.18 (n)
  • 62.47 (a)
Cep126 16
AK129341 36
  • 61 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia KIAA1377 35
  • 98.24 (n)
  • 97.12 (a)
KIAA1377 36
  • 97 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia RGD1563556 35
  • 76.65 (n)
  • 63.58 (a)
oppossum
(Monodelphis domestica)
Mammalia KIAA1377 36
  • 48 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia KIAA1377 36
  • 40 (a)
OneToOne
chicken
(Gallus gallus)
Aves KIAA1377 35
  • 53.59 (n)
  • 35.66 (a)
KIAA1377 36
  • 27 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia KIAA1377 36
  • 30 (a)
OneToOne
zebrafish
(Danio rerio)
Actinopterygii si:dkey-3b8.4 36
  • 22 (a)
OneToOne
Species with no ortholog for CEP126:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for CEP126 Gene

ENSEMBL:
Gene Tree for CEP126 (if available)
TreeFam:
Gene Tree for CEP126 (if available)

Paralogs for CEP126 Gene

No data available for Paralogs for CEP126 Gene

Variants for CEP126 Gene

Sequence variations from dbSNP and Humsavar for CEP126 Gene

SNP ID Clin Chr 11 pos Sequence Context AA Info Type
rs11225086 - 101,958,193(+) CTTCC(A/G)CATTA reference, missense
rs7926728 - 101,961,747(+) AATTT(G/T)GTGAT reference, missense
rs11225089 - 101,961,859(+) CACAT(A/C)CATCC reference, missense
rs11225090 - 101,961,877(+) TACCA(C/G/T)TTCCC reference, missense
rs11225091 - 101,961,939(+) AACTG(A/G)CATTC reference, missense

Variation tolerance for CEP126 Gene

Residual Variation Intolerance Score: 94.9% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 8.31; 85.23% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for CEP126 Gene

HapMap Linkage Disequilibrium report
CEP126

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Structural Variations from Database of Genomic Variants (DGV) for CEP126 Gene

Disorders for CEP126 Gene

MalaCards: The human disease database

(1) MalaCards diseases for CEP126 Gene - From: Orphanet and GeneCards

Disorder Aliases PubMed IDs
monomelic amyotrophy
  • hirayama disease
- elite association - COSMIC cancer census association via MalaCards

Relevant External Links for CEP126

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
CEP126
genes like me logo Genes that share disorders with CEP126: view

No data available for UniProtKB/Swiss-Prot and Genatlas for CEP126 Gene

Publications for CEP126 Gene

  1. Cep126 is required for pericentriolar satellite localisation to the centrosome and for primary cilium formation. (PMID: 24867236) Bonavita R. … Colanzi A. (Biol. Cell 2014) 2 3 4 67
  2. Identification of novel mitosis regulators through data mining with human centromere/kinetochore proteins as group queries. (PMID: 22712476) Tipton A.R. … Liu S.T. (BMC Cell Biol. 2012) 2 3
  3. Protein interaction network of alternatively spliced isoforms from brain links genetic risk factors for autism. (PMID: 24722188) Corominas R. … Iakoucheva L.M. (Nat. Commun. 2014) 3
  4. Protein phosphatase 1I^ isoforms linked interactions in the brain. (PMID: 23080069) Esteves S.L. … da Cruz e Silva E.F. (J. Mol. Neurosci. 2013) 3
  5. Exome sequencing identifies KIAA1377 and C5orf42 as susceptibility genes for monomelic amyotrophy. (PMID: 22264561) Lim Y.M. … Kim K.K. (Neuromuscul. Disord. 2012) 3

Products for CEP126 Gene

Sources for CEP126 Gene

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