Human Gene CEP120 (ENST00000328236.10) from GENCODE V44
  Description: Homo sapiens centrosomal protein 120 (CEP120), transcript variant 1, mRNA. (from RefSeq NM_153223)
RefSeq Summary (NM_153223): This gene encodes a protein that functions in the microtubule-dependent coupling of the nucleus and the centrosome. A similar protein in mouse plays a role in both interkinetic nuclear migration, which is a characteristic pattern of nuclear movement in neural progenitors, and in neural progenitor self-renewal. Mutations in this gene are predicted to result in neurogenic defects. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2009].
Gencode Transcript: ENST00000328236.10
Gencode Gene: ENSG00000168944.17
Transcript (Including UTRs)
   Position: hg38 chr5:123,344,895-123,423,558 Size: 78,664 Total Exon Count: 21 Strand: -
Coding Region
   Position: hg38 chr5:123,346,519-123,422,998 Size: 76,480 Coding Exon Count: 20 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
RNA-Seq ExpressionRNA StructureProtein StructureOther SpeciesGO AnnotationsmRNA Descriptions
Other NamesGeneReviewsMethods
Data last updated at UCSC: 2023-08-18 00:09:47

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr5:123,344,895-123,423,558)mRNA (may differ from genome)Protein (986 aa)
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-  Comments and Description Text from UniProtKB
  ID: CE120_HUMAN
DESCRIPTION: RecName: Full=Centrosomal protein of 120 kDa; Short=Cep120; AltName: Full=Coiled-coil domain-containing protein 100;
FUNCTION: Plays a role in the microtubule-dependent coupling of the nucleus and the centrosome. Involved in the processes that regulate centrosome-mediated interkinetic nuclear migration (INM) of neural progenitors and for proper positioning of neurons during brain development. Also implicated in the migration and selfrenewal of neural progenitors. May play a role in centriole duplication during mitosis (By similarity).
SUBUNIT: Interacts with TACC2 and TACC3 (By similarity). Interacts with CCDC52 (By similarity).
SUBCELLULAR LOCATION: Cytoplasm, cytoskeleton, centrosome (By similarity). Note=Regulates the localization of TACC3 to the centrosome in neural progenitors in vivo (By similarity).
SIMILARITY: Belongs to the CEP120 family.
SEQUENCE CAUTION: Sequence=BAC04155.1; Type=Erroneous initiation; Sequence=CAH10561.1; 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: CEP120
Diseases sorted by gene-association score: short-rib thoracic dysplasia 13 with or without polydactyly* (1230), joubert syndrome with ocular anomalies* (157), asphyxiating thoracic dystrophy* (146), joubert syndrome 1* (70), ellis-van creveld syndrome (5), cleft lip/palate (4), meckel syndrome 1 (1)
* = Manually curated disease association

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

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 9.12 RPKM in Ovary
Total median expression: 224.79 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 -24.9082-0.304 Picture PostScript Text
3' UTR -325.501624-0.200 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
IPR000008 - C2_Ca-dep
IPR008973 - C2_Ca/lipid-bd_dom_CaLB
IPR022136 - DUF3668

Pfam Domains:
PF12416 - Cep120 protein

ModBase Predicted Comparative 3D Structure on Q8N960
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
Genome BrowserGenome BrowserGenome BrowserNo orthologNo orthologNo ortholog
Gene Details     
Gene Sorter     
MGIRGDEnsembl   
Protein SequenceProtein SequenceProtein Sequence   
AlignmentAlignmentAlignment   

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0005515 protein binding
GO:0008022 protein C-terminus binding

Biological Process:
GO:0000226 microtubule cytoskeleton organization
GO:0007098 centrosome cycle
GO:0008283 cell proliferation
GO:0010825 positive regulation of centrosome duplication
GO:0021987 cerebral cortex development
GO:0022008 neurogenesis
GO:0022027 interkinetic nuclear migration
GO:0030953 astral microtubule organization
GO:0032880 regulation of protein localization
GO:0032886 regulation of microtubule-based process
GO:0045724 positive regulation of cilium assembly

Cellular Component:
GO:0005737 cytoplasm
GO:0005813 centrosome
GO:0005814 centriole
GO:0005815 microtubule organizing center
GO:0005856 cytoskeleton


-  Descriptions from all associated GenBank mRNAs
  BX648687 - Homo sapiens mRNA; cDNA DKFZp686H2338 (from clone DKFZp686H2338).
BC144558 - Homo sapiens cDNA clone IMAGE:9053086.
AL833929 - Homo sapiens mRNA; cDNA DKFZp434B175 (from clone DKFZp434B175).
AK093409 - Homo sapiens cDNA FLJ36090 fis, clone TESTI2020510.
AX748108 - Sequence 1633 from Patent EP1308459.
JD084817 - Sequence 65841 from Patent EP1572962.
JD501205 - Sequence 482229 from Patent EP1572962.
AK296999 - Homo sapiens cDNA FLJ61311 complete cds.
JD093443 - Sequence 74467 from Patent EP1572962.
BC040527 - Homo sapiens centrosomal protein 120kDa, mRNA (cDNA clone IMAGE:4837992).
JD563022 - Sequence 544046 from Patent EP1572962.
AK095646 - Homo sapiens cDNA FLJ38327 fis, clone FCBBF3025073.
CR627324 - Homo sapiens mRNA; cDNA DKFZp686I06246 (from clone DKFZp686I06246).
JD085358 - Sequence 66382 from Patent EP1572962.
JD369805 - Sequence 350829 from Patent EP1572962.
JD102819 - Sequence 83843 from Patent EP1572962.
JD312835 - Sequence 293859 from Patent EP1572962.
KJ905012 - Synthetic construct Homo sapiens clone ccsbBroadEn_14406 CEP120 gene, encodes complete protein.

-  Other Names for This Gene
  Alternate Gene Symbols: CCDC100, CE120_HUMAN, ENST00000328236.1, ENST00000328236.2, ENST00000328236.3, ENST00000328236.4, ENST00000328236.5, ENST00000328236.6, ENST00000328236.7, ENST00000328236.8, ENST00000328236.9, NM_153223, Q6AI52, Q6AW89, Q8IWB5, Q8N960, Q8N9Y0, Q8NDE8, uc003ktk.1, uc003ktk.2, uc003ktk.3, uc003ktk.4, uc003ktk.5
UCSC ID: ENST00000328236.10
RefSeq Accession: NM_153223
Protein: Q8N960 (aka CE120_HUMAN)
CCDS: CCDS4134.2, CCDS54890.1

-  GeneReviews for This Gene
  GeneReviews article(s) related to gene CEP120:
joubert (Joubert Syndrome)

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.