Human Gene CEP104 (ENST00000378230.8_11) from GENCODE V47lift37
  Description: centrosomal protein 104 (from RefSeq NM_014704.4)
Gencode Transcript: ENST00000378230.8_11
Gencode Gene: ENSG00000116198.14_15
Transcript (Including UTRs)
   Position: hg19 chr1:3,728,650-3,773,775 Size: 45,126 Total Exon Count: 22 Strand: -
Coding Region
   Position: hg19 chr1:3,731,966-3,768,971 Size: 37,006 Coding Exon Count: 21 

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

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr1:3,728,650-3,773,775)mRNA (may differ from genome)Protein (925 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
AlphaFoldBioGPSEnsemblEntrez GeneExonPrimerGeneCards
HGNCMalacardsMGIOMIMPubMedUniProtKB
WikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: CE104_HUMAN
DESCRIPTION: RecName: Full=Centrosomal protein of 104 kDa;
SUBCELLULAR LOCATION: Cytoplasm, cytoskeleton, centrosome, centriole.
SIMILARITY: Contains 2 HEAT repeats.
SEQUENCE CAUTION: Sequence=AAH01640.1; Type=Miscellaneous discrepancy; Note=Contaminating sequence. Potential poly-A sequence; Sequence=BAA25488.2; Type=Erroneous initiation;

-  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: CEP104
Diseases sorted by gene-association score: joubert syndrome 25* (919), joubert syndrome 1* (73), potter's syndrome (17), apraxia (10)
* = Manually curated disease association

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene

+  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: 8.83 RPKM in Testis
Total median expression: 243.77 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 -184.90337-0.549 Picture PostScript Text
3' UTR -1337.003316-0.403 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
  InterPro Domains: Graphical view of domain structure
IPR011989 - ARM-like
IPR016024 - ARM-type_fold
IPR008979 - Galactose-bd-like

SCOP Domains:
48371 - ARM repeat
49785 - Galactose-binding domain-like
52540 - P-loop containing nucleoside triphosphate hydrolases

ModBase Predicted Comparative 3D Structure on O60308
FrontTopSide
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    
 RGD    
      
      

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0005515 protein binding
GO:0016594 glycine binding
GO:0016595 glutamate binding
GO:0016596 thienylcyclohexylpiperidine binding

Cellular Component:
GO:0000922 spindle pole
GO:0005737 cytoplasm
GO:0005814 centriole
GO:0005815 microtubule organizing center
GO:0005856 cytoskeleton
GO:0005929 cilium
GO:0042995 cell projection


-  Descriptions from all associated GenBank mRNAs
  AB011134 - Homo sapiens KIAA0562 mRNA for KIAA0562 protein.
JD082018 - Sequence 63042 from Patent EP1572962.
JD305239 - Sequence 286263 from Patent EP1572962.
JD112897 - Sequence 93921 from Patent EP1572962.
JD225363 - Sequence 206387 from Patent EP1572962.
JD506063 - Sequence 487087 from Patent EP1572962.
JD345680 - Sequence 326704 from Patent EP1572962.
JD210345 - Sequence 191369 from Patent EP1572962.
JD261995 - Sequence 243019 from Patent EP1572962.
JD087006 - Sequence 68030 from Patent EP1572962.
JD037663 - Sequence 18687 from Patent EP1572962.
JD548369 - Sequence 529393 from Patent EP1572962.
JD144051 - Sequence 125075 from Patent EP1572962.
JD230258 - Sequence 211282 from Patent EP1572962.
JD257706 - Sequence 238730 from Patent EP1572962.
JD133260 - Sequence 114284 from Patent EP1572962.
JD557253 - Sequence 538277 from Patent EP1572962.
JD122026 - Sequence 103050 from Patent EP1572962.
JD211996 - Sequence 193020 from Patent EP1572962.
JD204033 - Sequence 185057 from Patent EP1572962.
JD468711 - Sequence 449735 from Patent EP1572962.
JD496712 - Sequence 477736 from Patent EP1572962.
JD295162 - Sequence 276186 from Patent EP1572962.
JD251368 - Sequence 232392 from Patent EP1572962.
JD547058 - Sequence 528082 from Patent EP1572962.
JD498352 - Sequence 479376 from Patent EP1572962.
JD111522 - Sequence 92546 from Patent EP1572962.
JD386723 - Sequence 367747 from Patent EP1572962.
JD155108 - Sequence 136132 from Patent EP1572962.
JD172414 - Sequence 153438 from Patent EP1572962.
JD410263 - Sequence 391287 from Patent EP1572962.
JD144155 - Sequence 125179 from Patent EP1572962.
JD225826 - Sequence 206850 from Patent EP1572962.
JD104863 - Sequence 85887 from Patent EP1572962.
BC026020 - Homo sapiens cDNA clone IMAGE:4875334, containing frame-shift errors.
JD078359 - Sequence 59383 from Patent EP1572962.
JD385185 - Sequence 366209 from Patent EP1572962.
JD118214 - Sequence 99238 from Patent EP1572962.
JD152091 - Sequence 133115 from Patent EP1572962.
JD404202 - Sequence 385226 from Patent EP1572962.
JD450290 - Sequence 431314 from Patent EP1572962.
JD107358 - Sequence 88382 from Patent EP1572962.
JD091291 - Sequence 72315 from Patent EP1572962.
JD196432 - Sequence 177456 from Patent EP1572962.
AK302190 - Homo sapiens cDNA FLJ51382 complete cds.
JD354629 - Sequence 335653 from Patent EP1572962.
JD122747 - Sequence 103771 from Patent EP1572962.
JD134504 - Sequence 115528 from Patent EP1572962.
JD228517 - Sequence 209541 from Patent EP1572962.
AB385349 - Synthetic construct DNA, clone: pF1KA0562, Homo sapiens KIAA0562 gene for KIAA0562 protein, complete cds, without stop codon, in Flexi system.
BC001640 - Homo sapiens KIAA0562, mRNA (cDNA clone IMAGE:2958798), partial cds.
BC047450 - Homo sapiens KIAA0562, mRNA (cDNA clone MGC:48315 IMAGE:5297035), complete cds.
AK308191 - Homo sapiens cDNA, FLJ98139.
BC050721 - Homo sapiens KIAA0562, mRNA (cDNA clone IMAGE:6151735), complete cds.
HQ257963 - Synthetic construct Homo sapiens clone IMAGE:100072272 Unknown protein gene, encodes complete protein.
KJ902015 - Synthetic construct Homo sapiens clone ccsbBroadEn_11409 CEP104 gene, encodes complete protein.
JD406454 - Sequence 387478 from Patent EP1572962.

-  Biochemical and Signaling Pathways
  BioCarta from NCI Cancer Genome Anatomy Project
h_setPathway - Granzyme A mediated Apoptosis Pathway
h_caspasePathway - Caspase Cascade in Apoptosis
h_mitochondriaPathway - Role of Mitochondria in Apoptotic Signaling
h_deathPathway - Induction of apoptosis through DR3 and DR4/5 Death Receptors
h_tnfr1Pathway - TNFR1 Signaling Pathway
h_fasPathway - FAS signaling pathway ( CD95 )
h_DNAfragmentPathway - Apoptotic DNA fragmentation and tissue homeostasis
h_HivnefPathway - HIV-I Nef: negative effector of Fas and TNF

-  Other Names for This Gene
  Alternate Gene Symbols: A0A024R4G3, CE104_HUMAN, ENST00000378230.1, ENST00000378230.2, ENST00000378230.3, ENST00000378230.4, ENST00000378230.5, ENST00000378230.6, ENST00000378230.7, KIAA0562, NM_014704, O60308, Q5JSQ3, Q5SR24, Q5SR25, Q6PKF5, Q86W32, Q86X14, uc318odr.1, uc318odr.2
UCSC ID: ENST00000378230.8_11
RefSeq Accession: NM_014704.4
Protein: O60308 (aka CE104_HUMAN)

-  GeneReviews for This Gene
  GeneReviews article(s) related to gene CEP104:
joubert (Joubert Syndrome)

-  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.