Human Gene CEP126 (ENST00000263468.13_5) from GENCODE V47lift37
  Description: centrosomal protein 126, transcript variant 1 (from RefSeq NM_020802.4)
Gencode Transcript: ENST00000263468.13_5
Gencode Gene: ENSG00000110318.15_9
Transcript (Including UTRs)
   Position: hg19 chr11:101,785,741-101,871,793 Size: 86,053 Total Exon Count: 11 Strand: +
Coding Region
   Position: hg19 chr11:101,786,016-101,868,374 Size: 82,359 Coding Exon Count: 11 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsGene Alleles
RNA-Seq ExpressionRNA StructureProtein StructureOther SpeciesGO AnnotationsmRNA Descriptions
Other NamesModel InformationMethods
Data last updated at UCSC: 2024-08-22 23:36:26

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr11:101,785,741-101,871,793)mRNA (may differ from genome)Protein (1117 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneTable SchemaAlphaFold
BioGPSEnsemblEntrez GeneExonPrimerGeneCardsMalacards
MGIOMIMPubMedUniProtKBWikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: K1377_HUMAN
DESCRIPTION: RecName: Full=Uncharacterized protein KIAA1377;
INTERACTION: Q99728:BARD1; NbExp=2; IntAct=EBI-473176, EBI-473181; Q99689:FEZ1; NbExp=2; IntAct=EBI-473176, EBI-396435; O95257:GADD45G; NbExp=2; IntAct=EBI-473176, EBI-448202; Q9Y2X7:GIT1; NbExp=2; IntAct=EBI-473176, EBI-466061; P42858:HTT; NbExp=2; IntAct=EBI-473176, EBI-466029; Q92993:KAT5; NbExp=2; IntAct=EBI-473176, EBI-399080; O95251:KAT7; NbExp=2; IntAct=EBI-473176, EBI-473199;
TISSUE SPECIFICITY: Expressed in brain, lung, skeletal muscle, kidney, pancreas, testis and ovary.

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  MalaCards Disease Associations
  MalaCards Gene Search: CEP126
Diseases sorted by gene-association score: amyotrophy, monomelic* (25)
* = Manually curated disease association

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 12.02 RPKM in Pituitary
Total median expression: 135.38 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -131.80275-0.479 Picture PostScript Text
3' UTR -902.373419-0.264 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  Pfam Domains:
PF15352 - Susceptibility to monomelic amyotrophy

ModBase Predicted Comparative 3D Structure on Q9P2H0
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The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologNo orthologNo orthologNo orthologNo ortholog
Gene DetailsGene Details    
Gene SorterGene Sorter    
 RGDEnsembl   
      
      

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0005515 protein binding

Biological Process:
GO:0007052 mitotic spindle organization
GO:0030030 cell projection organization
GO:0031122 cytoplasmic microtubule organization
GO:0060271 cilium assembly
GO:1905515 non-motile cilium assembly

Cellular Component:
GO:0005737 cytoplasm
GO:0005813 centrosome
GO:0005815 microtubule organizing center
GO:0005856 cytoskeleton
GO:0030496 midbody
GO:0042995 cell projection
GO:0097546 ciliary base


-  Descriptions from all associated GenBank mRNAs
  BC036525 - Homo sapiens cDNA clone IMAGE:5265764, containing frame-shift errors.
BC146807 - Homo sapiens cDNA clone IMAGE:8860349, containing frame-shift errors.
KJ904839 - Synthetic construct Homo sapiens clone ccsbBroadEn_14233 KIAA1377-like gene, encodes complete protein.
BC167859 - Synthetic construct Homo sapiens clone IMAGE:100068249, MGC:195866 KIAA1377 (KIAA1377) mRNA, encodes complete protein.
AK095004 - Homo sapiens cDNA FLJ37685 fis, clone BRHIP2013972.
AB037798 - Homo sapiens mRNA for KIAA1377 protein, partial cds.
AK296350 - Homo sapiens cDNA FLJ58726 complete cds.
AK057230 - Homo sapiens cDNA FLJ32668 fis, clone TESTI1000109.
JD293626 - Sequence 274650 from Patent EP1572962.
JD371818 - Sequence 352842 from Patent EP1572962.
JD373675 - Sequence 354699 from Patent EP1572962.
JD206367 - Sequence 187391 from Patent EP1572962.
JD280747 - Sequence 261771 from Patent EP1572962.
JD476008 - Sequence 457032 from Patent EP1572962.
JD127769 - Sequence 108793 from Patent EP1572962.
JD138514 - Sequence 119538 from Patent EP1572962.
AK309479 - Homo sapiens cDNA, FLJ99520.
JD318223 - Sequence 299247 from Patent EP1572962.
BX647415 - Homo sapiens mRNA; cDNA DKFZp686D12158 (from clone DKFZp686D12158).
AK310418 - Homo sapiens cDNA, FLJ17460.
JD334945 - Sequence 315969 from Patent EP1572962.
JD312829 - Sequence 293853 from Patent EP1572962.
JD087626 - Sequence 68650 from Patent EP1572962.
JD291323 - Sequence 272347 from Patent EP1572962.
JD285994 - Sequence 267018 from Patent EP1572962.
JD170513 - Sequence 151537 from Patent EP1572962.
JD511777 - Sequence 492801 from Patent EP1572962.
JD384204 - Sequence 365228 from Patent EP1572962.
JD429750 - Sequence 410774 from Patent EP1572962.
JD139076 - Sequence 120100 from Patent EP1572962.
JD291479 - Sequence 272503 from Patent EP1572962.
JD079655 - Sequence 60679 from Patent EP1572962.
JD145445 - Sequence 126469 from Patent EP1572962.
JD220362 - Sequence 201386 from Patent EP1572962.
JD199573 - Sequence 180597 from Patent EP1572962.
JD533315 - Sequence 514339 from Patent EP1572962.
JD533314 - Sequence 514338 from Patent EP1572962.
JD076459 - Sequence 57483 from Patent EP1572962.
JD207735 - Sequence 188759 from Patent EP1572962.
JD445135 - Sequence 426159 from Patent EP1572962.
JD427916 - Sequence 408940 from Patent EP1572962.
JD549294 - Sequence 530318 from Patent EP1572962.
JD233767 - Sequence 214791 from Patent EP1572962.
JD550949 - Sequence 531973 from Patent EP1572962.
JD235646 - Sequence 216670 from Patent EP1572962.
JD298058 - Sequence 279082 from Patent EP1572962.
JD289134 - Sequence 270158 from Patent EP1572962.
JD405151 - Sequence 386175 from Patent EP1572962.
JD189739 - Sequence 170763 from Patent EP1572962.
JD155612 - Sequence 136636 from Patent EP1572962.
JD534244 - Sequence 515268 from Patent EP1572962.
JD097488 - Sequence 78512 from Patent EP1572962.
JD319652 - Sequence 300676 from Patent EP1572962.
JD220062 - Sequence 201086 from Patent EP1572962.
JD431716 - Sequence 412740 from Patent EP1572962.
JD514937 - Sequence 495961 from Patent EP1572962.
JD257030 - Sequence 238054 from Patent EP1572962.
JD472424 - Sequence 453448 from Patent EP1572962.
JD472423 - Sequence 453447 from Patent EP1572962.
JD472422 - Sequence 453446 from Patent EP1572962.
JD421484 - Sequence 402508 from Patent EP1572962.
JD179105 - Sequence 160129 from Patent EP1572962.
JD474994 - Sequence 456018 from Patent EP1572962.
JD023650 - Sequence 4674 from Patent EP1572962.

-  Other Names for This Gene
  Alternate Gene Symbols: CE126_HUMAN, CEP126 , ENST00000263468.1, ENST00000263468.10, ENST00000263468.11, ENST00000263468.12, ENST00000263468.2, ENST00000263468.3, ENST00000263468.4, ENST00000263468.5, ENST00000263468.6, ENST00000263468.7, ENST00000263468.8, ENST00000263468.9, KIAA1377, NM_020802, Q4G0U6, Q9P2H0, uc317hkc.1, uc317hkc.2
UCSC ID: ENST00000263468.13_5
RefSeq Accession: NM_020802.4
Protein: Q9P2H0 (aka K1377_HUMAN)

-  Gene Model Information
  Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.