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Aliases for CEP126 Gene

Aliases for CEP126 Gene

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

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 Amyotrophy, Monomelic.

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 , CIViC 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 Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH11G102130 0.7 dbSUPER 13.1 +216.6 216648 2.9 PKNOX1 ZFP64 ZNF140 FEZF1 ZNF101 ZNF697 ZNF121 ZNF680 ZBTB11 ZNF426 CEP126 DYNC2H1 ENSG00000254422 DCUN1D5 ENSG00000277459
GH11G101861 1 Ensembl ENCODE 8.3 -51.5 -51464 3.2 ELF3 SOX13 CTCF CBX3 FOXA2 ZNF792 JUN CEBPG ZNF644 RAD21 CEP126 PIR36183 TRPC6
GH11G102010 1.4 FANTOM5 Ensembl ENCODE 5.3 +96.5 96469 2.8 PKNOX1 ARID4B KLF17 SIN3A RAD21 BRCA1 GATA2 RCOR1 KLF7 FOS TRPC6 CEP126 ANGPTL5 GC11P102001 C11orf70
GH11G101865 0.9 ENCODE 8.1 -47.9 -47908 2.7 ELF3 FOXA2 ARID4B DMAP1 RAD21 RARA YY1 GATA4 GATA2 RCOR1 CEP126 TRPC6 PIR36183
GH11G101870 0.7 ENCODE 7.4 -44.2 -44164 0.8 TBP CTCF JUN MAX ZKSCAN1 GATA2 RCOR1 FOS DEK CHD2 CEP126 TRPC6 PIR36183
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

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
ENSR00000043951 285 1801 HDGF PKNOX1 FOXA2 ARID4B SIN3A DMAP1 ZNF2 YY1 ZNF143 FOS

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

Post-translational modifications for CEP126 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for CEP126 Gene

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).

Gene Ontology (GO) - Molecular Function for CEP126 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 15383276
genes like me logo Genes that share ontologies with CEP126: view

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

Inhibitory RNA Products

Clone Products

No data available for Enzyme Numbers (IUBMB) , 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.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for CEP126 gene
Compartment Confidence
cytoskeleton 5
nucleus 4
cytosol 3

Gene Ontology (GO) - Cellular Components for CEP126 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA --
GO:0005813 centrosome IEA,IDA 24867236
GO:0005815 microtubule organizing center IEA --
GO:0005856 cytoskeleton IEA --
GO:0030496 midbody IDA 19799413
genes like me logo Genes that share ontologies with CEP126: view

Pathways & Interactions for CEP126 Gene

SuperPathways for CEP126 Gene

No Data Available

Interacting Proteins for CEP126 Gene

Gene Ontology (GO) - Biological Process for CEP126 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007052 mitotic spindle organization IEA,IMP 24867236
GO:0030030 cell projection organization IEA --
GO:0031122 cytoplasmic microtubule organization IEA,IMP 24867236
GO:0060271 cilium assembly IMP 24867236
GO:1905515 non-motile 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

Inhibitory RNA Products

Clone Products

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 from GTEx, Illumina, BioGPS, and CGAP SAGE 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 and MOPED for CEP126 Gene



Protein tissue co-expression partners for CEP126 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of CEP126 Gene:

CEP126

mRNA Expression by UniProt/SwissProt for CEP126 Gene:

Q9P2H0-CE126_HUMAN
Tissue specificity: Expressed in brain, lung, skeletal muscle, kidney, pancreas, testis and ovary.

Evidence on tissue expression from TISSUES for CEP126 Gene

  • Nervous system(4.3)

Phenotype-based relationships between genes and organs from Gene ORGANizer for CEP126 Gene

Germ Layers:
  • ectoderm
  • mesoderm
Systems:
  • integumentary
  • nervous
  • skeletal muscle
Organs:
Head and neck:
  • brain
  • head
Limb:
  • foot
  • hand
  • lower limb
  • upper limb
General:
  • peripheral nerve
  • peripheral nervous system
  • spinal cord
genes like me logo Genes that share expression patterns with CEP126: view

Primer 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
chimpanzee
(Pan troglodytes)
Mammalia KIAA1377 34 35
  • 98.24 (n)
cow
(Bos Taurus)
Mammalia KIAA1377 34 35
  • 83.99 (n)
dog
(Canis familiaris)
Mammalia KIAA1377 34 35
  • 81.72 (n)
rat
(Rattus norvegicus)
Mammalia RGD1563556 34
  • 76.65 (n)
mouse
(Mus musculus)
Mammalia AK129341 35 34
  • 76.18 (n)
OneToOne
Cep126 16
oppossum
(Monodelphis domestica)
Mammalia KIAA1377 35
  • 48 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia KIAA1377 35
  • 40 (a)
OneToOne
chicken
(Gallus gallus)
Aves KIAA1377 34 35
  • 53.59 (n)
lizard
(Anolis carolinensis)
Reptilia KIAA1377 35
  • 30 (a)
OneToOne
zebrafish
(Danio rerio)
Actinopterygii si:dkey-3b8.4 35
  • 22 (a)
OneToOne
Species where no ortholog for CEP126 was found in the sources mined by GeneCards:
  • 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
rs1000004637 -- 101,971,896(+) TTGAG(A/C)CCAGG intron-variant
rs1000061786 -- 101,968,194(+) ATCTA(A/G)TAGGA intron-variant
rs1000073069 -- 101,988,990(+) GACTA(C/T)GATTA intron-variant
rs1000133198 -- 101,989,311(+) ATTTT(C/G)AGCTG intron-variant
rs1000246717 -- 101,985,572(+) GCCAC(C/T)GCATC intron-variant

Structural Variations from Database of Genomic Variants (DGV) for CEP126 Gene

Variant ID Type Subtype PubMed ID
esv1725395 CNV insertion 17803354
esv2432654 CNV insertion 19546169
nsv1052159 CNV gain 25217958
nsv469989 CNV loss 18288195
nsv513332 CNV insertion 21212237
nsv556140 CNV loss 21841781
nsv832250 CNV gain 17160897

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

SNPedia medical, phenotypic, and genealogical associations of SNPs for
CEP126

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot 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
amyotrophy, monomelic
  • monomelic amyotrophy
- 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 64
  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 64
  3. Exome sequencing identifies KIAA1377 and C5orf42 as susceptibility genes for monomelic amyotrophy. (PMID: 22264561) Lim Y.M. … Kim K.K. (Neuromuscul. Disord. 2012) 3 4 64
  4. From midbody protein-protein interaction network construction to novel regulators in cytokinesis. (PMID: 19799413) Chen T.C. … Huang C.Y. (J. Proteome Res. 2009) 3 4 64
  5. Prediction of the coding sequences of unidentified human genes. XVI. The complete sequences of 150 new cDNA clones from brain which code for large proteins in vitro. (PMID: 10718198) Nagase T. … Ohara O. (DNA Res. 2000) 3 4 64

Products for CEP126 Gene

Sources for CEP126 Gene

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