Human Gene CEP89 (ENST00000305768.10_12) from GENCODE V47lift37
  Description: centrosomal protein 89 (from RefSeq NM_032816.5)
Gencode Transcript: ENST00000305768.10_12
Gencode Gene: ENSG00000121289.18_14
Transcript (Including UTRs)
   Position: hg19 chr19:33,366,831-33,462,864 Size: 96,034 Total Exon Count: 19 Strand: -
Coding Region
   Position: hg19 chr19:33,370,068-33,462,780 Size: 92,713 Coding Exon Count: 19 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther Species
GO AnnotationsmRNA DescriptionsPathwaysOther NamesModel InformationMethods
Data last updated at UCSC: 2024-08-22 23:36:26

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr19:33,366,831-33,462,864)mRNA (may differ from genome)Protein (783 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
AlphaFoldBioGPSEnsemblEntrez GeneExonPrimerGeneCards
HGNCMalacardsMGIOMIMPubMedReactome
UniProtKBWikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: CEP89_HUMAN
DESCRIPTION: RecName: Full=Centrosomal protein of 89 kDa; AltName: Full=Coiled-coil domain-containing protein 123;
SUBCELLULAR LOCATION: Cytoplasm, cytoskeleton, centrosome. Cytoplasm, cytoskeleton, spindle pole. Note=Localizes to structures around centrosomes similar to centrosome satellites.

-  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: CEP89
Diseases sorted by gene-association score: cystinuria (6)

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

+  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: 5.29 RPKM in Prostate
Total median expression: 147.00 RPKM



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

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -39.2084-0.467 Picture PostScript Text
3' UTR -1423.403237-0.440 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
  ModBase Predicted Comparative 3D Structure on Q96ST8
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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:0007005 mitochondrion organization
GO:0007268 chemical synaptic transmission
GO:0030030 cell projection organization
GO:0060271 cilium assembly
GO:0097711 ciliary basal body docking
GO:1905515 non-motile cilium assembly

Cellular Component:
GO:0000922 spindle pole
GO:0005737 cytoplasm
GO:0005739 mitochondrion
GO:0005758 mitochondrial intermembrane space
GO:0005813 centrosome
GO:0005814 centriole
GO:0005815 microtubule organizing center
GO:0005829 cytosol
GO:0005856 cytoskeleton
GO:0005886 plasma membrane
GO:0031514 motile cilium
GO:0097539 ciliary transition fiber
GO:0097730 non-motile cilium


-  Descriptions from all associated GenBank mRNAs
  AK027546 - Homo sapiens cDNA FLJ14640 fis, clone NT2RP2001460, weakly similar to TRICHOHYALIN.
AL832158 - Homo sapiens mRNA; cDNA DKFZp686G1614 (from clone DKFZp686G1614).
BC136328 - Homo sapiens coiled-coil domain containing 123, mRNA (cDNA clone MGC:167938 IMAGE:9020315), complete cds.
BC032307 - Homo sapiens coiled-coil domain containing 123, mRNA (cDNA clone IMAGE:5183527), complete cds.
KJ903485 - Synthetic construct Homo sapiens clone ccsbBroadEn_12879 CEP89 gene, encodes complete protein.
JD465698 - Sequence 446722 from Patent EP1572962.
JD496192 - Sequence 477216 from Patent EP1572962.
JD223665 - Sequence 204689 from Patent EP1572962.
JD360886 - Sequence 341910 from Patent EP1572962.
JD539574 - Sequence 520598 from Patent EP1572962.
JD517556 - Sequence 498580 from Patent EP1572962.
JD366422 - Sequence 347446 from Patent EP1572962.
JD534801 - Sequence 515825 from Patent EP1572962.
JD155861 - Sequence 136885 from Patent EP1572962.
JD059725 - Sequence 40749 from Patent EP1572962.
JD142389 - Sequence 123413 from Patent EP1572962.
JD453938 - Sequence 434962 from Patent EP1572962.
JD217850 - Sequence 198874 from Patent EP1572962.
JD388574 - Sequence 369598 from Patent EP1572962.
JD252481 - Sequence 233505 from Patent EP1572962.
JD549178 - Sequence 530202 from Patent EP1572962.
JD157241 - Sequence 138265 from Patent EP1572962.
JD337109 - Sequence 318133 from Patent EP1572962.
JD444063 - Sequence 425087 from Patent EP1572962.
JD315194 - Sequence 296218 from Patent EP1572962.
JD357158 - Sequence 338182 from Patent EP1572962.
JD159505 - Sequence 140529 from Patent EP1572962.
JD306970 - Sequence 287994 from Patent EP1572962.
JD529621 - Sequence 510645 from Patent EP1572962.
JD529623 - Sequence 510647 from Patent EP1572962.
JD557523 - Sequence 538547 from Patent EP1572962.
JD557524 - Sequence 538548 from Patent EP1572962.
JD564101 - Sequence 545125 from Patent EP1572962.
JD430420 - Sequence 411444 from Patent EP1572962.
JD170102 - Sequence 151126 from Patent EP1572962.
DQ576923 - Homo sapiens piRNA piR-45035, complete sequence.
JD059099 - Sequence 40123 from Patent EP1572962.
JD303854 - Sequence 284878 from Patent EP1572962.
JD154703 - Sequence 135727 from Patent EP1572962.
JD330493 - Sequence 311517 from Patent EP1572962.
JD040867 - Sequence 21891 from Patent EP1572962.
JD328290 - Sequence 309314 from Patent EP1572962.
JD440081 - Sequence 421105 from Patent EP1572962.
BC020195 - Homo sapiens coiled-coil domain containing 123, mRNA (cDNA clone IMAGE:4302095), partial cds.
JD500813 - Sequence 481837 from Patent EP1572962.
JD235528 - Sequence 216552 from Patent EP1572962.
JD281913 - Sequence 262937 from Patent EP1572962.
JD449036 - Sequence 430060 from Patent EP1572962.
JD315330 - Sequence 296354 from Patent EP1572962.
JD092670 - Sequence 73694 from Patent EP1572962.
JD138579 - Sequence 119603 from Patent EP1572962.
BC029978 - Homo sapiens coiled-coil domain containing 123, mRNA (cDNA clone IMAGE:4389598).
AK001375 - Homo sapiens cDNA FLJ10513 fis, clone NT2RP2000704.

-  Biochemical and Signaling Pathways
  Reactome (by CSHL, EBI, and GO)

Protein Q96ST8 (Reactome details) participates in the following event(s):

R-HSA-5626223 C2CD3 and OFD1 recruit 5 distal appendage proteins to the centriole
R-HSA-5626228 The distal appendage proteins recruit TTBK2
R-HSA-5626681 Recruitment of transition zone proteins
R-HSA-5626227 CP110 and CEP97 dissociate from the centriole
R-HSA-5626699 MARK4 binds ODF2 in the centriole
R-HSA-5638009 CEP164 recruits RAB3IP-carrying Golgi-derived vesicles to the basal body
R-HSA-5617816 RAB3IP stimulates nucleotide exchange on RAB8A
R-HSA-5620912 Anchoring of the basal body to the plasma membrane
R-HSA-5617833 Cilium Assembly
R-HSA-1852241 Organelle biogenesis and maintenance

-  Other Names for This Gene
  Alternate Gene Symbols: B9EGA6, CCDC123, CEP89_HUMAN, ENST00000305768.1, ENST00000305768.2, ENST00000305768.3, ENST00000305768.4, ENST00000305768.5, ENST00000305768.6, ENST00000305768.7, ENST00000305768.8, ENST00000305768.9, NM_032816, Q8N5J8, Q96ST8, uc317nrq.1, uc317nrq.2
UCSC ID: ENST00000305768.10_12
RefSeq Accession: NM_032816.5
Protein: Q96ST8 (aka CEP89_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.