Human Gene CEP89 (uc002nty.3)
  Description: Homo sapiens centrosomal protein 89kDa (CEP89), mRNA.
Transcript (Including UTRs)
   Position: hg19 chr19:33,369,904-33,462,869 Size: 92,966 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 CommentsMalaCardsCTDGene Alleles
RNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther SpeciesGO Annotations
mRNA DescriptionsPathwaysOther NamesModel InformationMethods
Data last updated at UCSC: 2013-06-14

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr19:33,369,904-33,462,869)mRNA (may differ from genome)Protein (783 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
AlphaFoldBioGPSCGAPEnsemblEntrez GeneExonPrimer
GeneCardsGeneNetworkH-INVHGNCHPRDLynx
MGIneXtProtOMIMPubMedReactomeTreefam
UniProtKB

-  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.

-  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
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-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -43.8089-0.492 Picture PostScript Text
3' UTR -60.00164-0.366 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 orthologGenome BrowserNo orthologNo orthologNo ortholog
Gene Details     
Gene Sorter     
  Ensembl   
  Protein Sequence   
  Alignment   

-  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.
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, NM_032816, NP_116205, Q8N5J8, Q96ST8
UCSC ID: uc002nty.3
RefSeq Accession: NM_032816
Protein: Q96ST8 (aka CEP89_HUMAN)
CCDS: CCDS32987.1

-  Gene Model Information
 
category: coding nonsense-mediated-decay: no RNA accession: NM_032816.3
exon count: 19CDS single in 3' UTR: no RNA size: 2609
ORF size: 2352CDS single in intron: no Alignment % ID: 99.96
txCdsPredict score: 4780.00frame shift in genome: no % Coverage: 99.85
has start codon: yes stop codon in genome: no # of Alignments: 1
has end codon: yes retained intron: no # AT/AC introns 0
selenocysteine: no end bleed into intron: 0# strange splices: 0
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.