Human Gene CEP295 (ENST00000325212.11_12) from GENCODE V47lift37
  Description: centrosomal protein 295 (from RefSeq NM_033395.2)
Gencode Transcript: ENST00000325212.11_12
Gencode Gene: ENSG00000166004.15_17
Transcript (Including UTRs)
   Position: hg19 chr11:93,394,848-93,463,524 Size: 68,677 Total Exon Count: 30 Strand: +
Coding Region
   Position: hg19 chr11:93,399,874-93,463,435 Size: 63,562 Coding Exon Count: 29 

Page IndexSequence and LinksUniProtKB CommentsPrimersGene AllelesRNA-Seq Expression
Microarray 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 (chr11:93,394,848-93,463,524)mRNA (may differ from genome)Protein (2601 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneTable SchemaAlphaFold
BioGPSEnsemblEntrez GeneExonPrimerGeneCardsMGI
OMIMPubMedUniProtKBBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: K1731_HUMAN
DESCRIPTION: RecName: Full=Centrosomal protein KIAA1731;
FUNCTION: May be involved in centriole formation or stability.
SUBCELLULAR LOCATION: Cytoplasm, cytoskeleton, centrosome. Note=Colocalizes with centriolar acetylated tubulin.
SEQUENCE CAUTION: Sequence=BAB21822.2; Type=Erroneous initiation; Note=Translation N-terminally shortened; Sequence=BAB21822.2; Type=Frameshift; Positions=2016; Sequence=BAB71582.1; Type=Erroneous initiation; Note=Translation N-terminally extended; Sequence=BAC04638.1; Type=Erroneous initiation; Note=Translation N-terminally extended;

-  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


+  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: 5.34 RPKM in Cells - EBV-transformed lymphocytes
Total median expression: 108.15 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 -37.00119-0.311 Picture PostScript Text
3' UTR -6.5089-0.073 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
IPR026615 - KIAA1731

Pfam Domains:
PF15309 - ALMS motif

ModBase Predicted Comparative 3D Structure on Q9C0D2
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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    
 RGD    
      
      

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Biological Process:
GO:1902117 positive regulation of organelle assembly

Cellular Component:
GO:0005737 cytoplasm
GO:0005813 centrosome
GO:0005814 centriole
GO:0005815 microtubule organizing center
GO:0005829 cytosol
GO:0005856 cytoskeleton
GO:0005886 plasma membrane


-  Descriptions from all associated GenBank mRNAs
  AB051518 - Homo sapiens mRNA for KIAA1731 protein, partial cds.
AK095218 - Homo sapiens cDNA FLJ37899 fis, clone CD34C3000314.
AK095859 - Homo sapiens cDNA FLJ38540 fis, clone HCHON2001497.
BC015989 - Homo sapiens, Similar to testis specific protein, Ddc8, clone IMAGE:4106200, mRNA.
BC017394 - Homo sapiens cDNA clone IMAGE:4066977.
JD410879 - Sequence 391903 from Patent EP1572962.
JD203040 - Sequence 184064 from Patent EP1572962.
JD434553 - Sequence 415577 from Patent EP1572962.
LF208373 - JP 2014500723-A/15876: Polycomb-Associated Non-Coding RNAs.
JD469379 - Sequence 450403 from Patent EP1572962.
LF375613 - JP 2014500723-A/183116: Polycomb-Associated Non-Coding RNAs.
LF375612 - JP 2014500723-A/183115: Polycomb-Associated Non-Coding RNAs.
LF375611 - JP 2014500723-A/183114: Polycomb-Associated Non-Coding RNAs.
LF375610 - JP 2014500723-A/183113: Polycomb-Associated Non-Coding RNAs.
MA443950 - JP 2018138019-A/15876: Polycomb-Associated Non-Coding RNAs.
MA611190 - JP 2018138019-A/183116: Polycomb-Associated Non-Coding RNAs.
MA611189 - JP 2018138019-A/183115: Polycomb-Associated Non-Coding RNAs.
MA611188 - JP 2018138019-A/183114: Polycomb-Associated Non-Coding RNAs.
MA611187 - JP 2018138019-A/183113: Polycomb-Associated Non-Coding RNAs.
AK098232 - Homo sapiens cDNA FLJ40913 fis, clone UTERU2005446.
AK057804 - Homo sapiens cDNA FLJ25075 fis, clone CBL06008.
LF375598 - JP 2014500723-A/183101: Polycomb-Associated Non-Coding RNAs.
JD262336 - Sequence 243360 from Patent EP1572962.
JD151742 - Sequence 132766 from Patent EP1572962.
JD522860 - Sequence 503884 from Patent EP1572962.
LF375596 - JP 2014500723-A/183099: Polycomb-Associated Non-Coding RNAs.
JD099948 - Sequence 80972 from Patent EP1572962.
LF375595 - JP 2014500723-A/183098: Polycomb-Associated Non-Coding RNAs.
LF375594 - JP 2014500723-A/183097: Polycomb-Associated Non-Coding RNAs.
JD302628 - Sequence 283652 from Patent EP1572962.
MA611175 - JP 2018138019-A/183101: Polycomb-Associated Non-Coding RNAs.
MA611173 - JP 2018138019-A/183099: Polycomb-Associated Non-Coding RNAs.
MA611172 - JP 2018138019-A/183098: Polycomb-Associated Non-Coding RNAs.
MA611171 - JP 2018138019-A/183097: Polycomb-Associated Non-Coding RNAs.

-  Other Names for This Gene
  Alternate Gene Symbols: C9J5H9, C9JQY8, CE295_HUMAN, CEP295 , ENST00000325212.1, ENST00000325212.10, ENST00000325212.2, ENST00000325212.3, ENST00000325212.4, ENST00000325212.5, ENST00000325212.6, ENST00000325212.7, ENST00000325212.8, ENST00000325212.9, KIAA1731 , NM_033395, Q8N7L4, Q8N919, Q8N9B0, Q96LT8, Q9C0D2, uc317rvc.1, uc317rvc.2
UCSC ID: ENST00000325212.11_12
RefSeq Accession: NM_033395.2
Protein: Q9C0D2 (aka K1731_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.