Human Gene CEP97 (ENST00000341893.8_9) from GENCODE V47lift37
  Description: centrosomal protein 97, transcript variant 1 (from RefSeq NM_024548.4)
Gencode Transcript: ENST00000341893.8_9
Gencode Gene: ENSG00000182504.12_14
Transcript (Including UTRs)
   Position: hg19 chr3:101,443,458-101,489,406 Size: 45,949 Total Exon Count: 11 Strand: +
Coding Region
   Position: hg19 chr3:101,443,521-101,484,395 Size: 40,875 Coding Exon Count: 11 

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Gene AllelesRNA-Seq ExpressionRNA StructureProtein StructureOther SpeciesGO Annotations
mRNA DescriptionsPathwaysOther NamesModel InformationMethods
Data last updated at UCSC: 2024-08-22 23:36:26

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr3:101,443,458-101,489,406)mRNA (may differ from genome)Protein (865 aa)
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-  Comments and Description Text from UniProtKB
  ID: CEP97_HUMAN
DESCRIPTION: RecName: Full=Centrosomal protein of 97 kDa; Short=Cep97; AltName: Full=Leucine-rich repeat and IQ domain-containing protein 2;
FUNCTION: Collaborates with CCP110, being involved in the suppression of a cilia assembly program. Required for correct spindle formation and has a role in cytokinesis. Required for recruitment of CCP110 to the centrosome.
SUBUNIT: Interacts with CALM1, CEP76 and CCP110. Via its interaction with CCP110, may indirectly interact with HERC2 and NEURL4.
INTERACTION: O43303:CCP110; NbExp=15; IntAct=EBI-1566210, EBI-1566217; Q5T7B8:KIF24; NbExp=9; IntAct=EBI-1566210, EBI-2556811;
SUBCELLULAR LOCATION: Cytoplasm, cytoskeleton, centrosome.
PTM: Phosphorylated upon DNA damage, probably by ATM or ATR.
SIMILARITY: Contains 1 IQ domain.
SIMILARITY: Contains 8 LRR (leucine-rich) repeats.
SIMILARITY: Contains 1 LRRCT domain.
SEQUENCE CAUTION: Sequence=BAB15531.1; Type=Erroneous initiation; Note=Translation N-terminally extended; Sequence=BAC04055.1; Type=Frameshift; Positions=303;

-  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: CEP97
Diseases sorted by gene-association score: spinocerebellar ataxia 11 (10)

-  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: 4.96 RPKM in Brain - Cerebellar Hemisphere
Total median expression: 101.90 RPKM



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

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -14.4063-0.229 Picture PostScript Text
3' UTR -1256.505011-0.251 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
IPR000048 - IQ_motif_EF-hand-BS
IPR001611 - Leu-rich_rpt
IPR025875 - Leu-rich_rpt_2_copies

Pfam Domains:
PF00612 - IQ calmodulin-binding motif
PF13516 - Leucine Rich repeat
PF13855 - Leucine rich repeat
PF14580 - Leucine-rich repeat

SCOP Domains:
52047 - RNI-like
52058 - L domain-like
52075 - Outer arm dynein light chain 1
52540 - P-loop containing nucleoside triphosphate hydrolases

ModBase Predicted Comparative 3D Structure on Q8IW35
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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    
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-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0005515 protein binding
GO:0005516 calmodulin binding

Biological Process:
GO:0030030 cell projection organization
GO:0097711 ciliary basal body docking
GO:1901673 regulation of mitotic spindle assembly
GO:1902018 negative regulation of cilium assembly

Cellular Component:
GO:0005737 cytoplasm
GO:0005813 centrosome
GO:0005815 microtubule organizing center
GO:0005829 cytosol
GO:0005856 cytoskeleton
GO:0032991 macromolecular complex


-  Descriptions from all associated GenBank mRNAs
  AK309806 - Homo sapiens cDNA, FLJ99847.
AL833269 - Homo sapiens mRNA; cDNA DKFZp451J1310 (from clone DKFZp451J1310).
BC041085 - Homo sapiens centrosomal protein 97kDa, mRNA (cDNA clone MGC:45383 IMAGE:5528397), complete cds.
AK294784 - Homo sapiens cDNA FLJ60110 complete cds, highly similar to Homo sapiens leucine-rich repeats and IQ motif containing 2 (LRRIQ2), mRNA.
AK093100 - Homo sapiens cDNA FLJ35781 fis, clone TESTI2005395.
AX747922 - Sequence 1447 from Patent EP1308459.
AK129972 - Homo sapiens cDNA FLJ26462 fis, clone KDN03887.
AK225573 - Homo sapiens mRNA for leucine-rich repeats and IQ motif containing 2 variant, clone: LNG02513.
AK026700 - Homo sapiens cDNA: FLJ23047 fis, clone LNG02513.
JD350431 - Sequence 331455 from Patent EP1572962.
JD244853 - Sequence 225877 from Patent EP1572962.
JD236820 - Sequence 217844 from Patent EP1572962.
JD165110 - Sequence 146134 from Patent EP1572962.
JD254156 - Sequence 235180 from Patent EP1572962.
JD091299 - Sequence 72323 from Patent EP1572962.
JD454564 - Sequence 435588 from Patent EP1572962.
JD040406 - Sequence 21430 from Patent EP1572962.
JD362870 - Sequence 343894 from Patent EP1572962.
JD287556 - Sequence 268580 from Patent EP1572962.
JD562976 - Sequence 544000 from Patent EP1572962.
JD037005 - Sequence 18029 from Patent EP1572962.
JD171074 - Sequence 152098 from Patent EP1572962.
JD234800 - Sequence 215824 from Patent EP1572962.
JD101304 - Sequence 82328 from Patent EP1572962.
JD146618 - Sequence 127642 from Patent EP1572962.
JD308248 - Sequence 289272 from Patent EP1572962.
JD151157 - Sequence 132181 from Patent EP1572962.
JD255606 - Sequence 236630 from Patent EP1572962.
JD542510 - Sequence 523534 from Patent EP1572962.
JD212294 - Sequence 193318 from Patent EP1572962.
JD368443 - Sequence 349467 from Patent EP1572962.
JD070265 - Sequence 51289 from Patent EP1572962.
JD397906 - Sequence 378930 from Patent EP1572962.
JD226188 - Sequence 207212 from Patent EP1572962.
JD082727 - Sequence 63751 from Patent EP1572962.
JD537341 - Sequence 518365 from Patent EP1572962.
JD367497 - Sequence 348521 from Patent EP1572962.
JD031150 - Sequence 12174 from Patent EP1572962.
JD072191 - Sequence 53215 from Patent EP1572962.
JD505107 - Sequence 486131 from Patent EP1572962.
JD285403 - Sequence 266427 from Patent EP1572962.

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

Protein Q8IW35 (Reactome details) participates in the following event(s):

R-HSA-5626227 CP110 and CEP97 dissociate from the centriole
R-HSA-5626220 C2CD3 binds the mother centriole
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-5626699 MARK4 binds ODF2 in the centriole
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: B5MDY8, CEP97_HUMAN, ENST00000341893.1, ENST00000341893.2, ENST00000341893.3, ENST00000341893.4, ENST00000341893.5, ENST00000341893.6, ENST00000341893.7, LRRIQ2, NM_024548, Q8IW35, Q8NA71, Q9H5T9, uc317wea.1, uc317wea.2
UCSC ID: ENST00000341893.8_9
RefSeq Accession: NM_024548.4
Protein: Q8IW35 (aka CEP97_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.