Human Gene CEP89 (ENST00000305768.10_12) from GENCODE V47lift37

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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 Index	Sequence and Links	UniProtKB Comments	Primers	MalaCards	CTD
Gene Alleles	RNA-Seq Expression	Microarray Expression	RNA Structure	Protein Structure	Other Species
GO Annotations	mRNA Descriptions	Pathways	Other Names	Model Information	Methods

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 Sorter	Genome Browser	Other Species FASTA	VisiGene	Gene interactions	Table Schema
AlphaFold	BioGPS	Ensembl	Entrez Gene	ExonPrimer	GeneCards
HGNC	Malacards	MGI	OMIM	PubMed	Reactome
UniProtKB	Wikipedia	BioGrid 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 D000082 Acetaminophen D016604 Aflatoxin B1 D003993 Dibutyl Phthalate D006861 Hydrogen Peroxide D007854 Lead D011794 Quercetin D013749 Tetrachlorodibenzodioxin C069837 fullerene C60 C028007 nickel monoxide D020122 tert-Butylhydroperoxide C015559 trimellitic anhydride

Common Gene Haplotype Alleles


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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

Region	Fold Energy	Bases	Energy/Base	Display As
5' UTR	-39.20	84	-0.467	Picture	PostScript	Text
3' UTR	-1423.40	3237	-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


Front	Top	Side

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.

Mouse	Rat	Zebrafish	D. melanogaster	C. elegans	S. cerevisiae
No ortholog	No ortholog	No ortholog	No ortholog	No ortholog	No ortholog
Gene Details	Gene Details
Gene Sorter	Gene Sorter
	RGD	Ensembl

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


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Methods, Credits, and Use Restrictions


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