Human Gene CEP76 (ENST00000262127.7_7) from GENCODE V47lift37
  Description: centrosomal protein 76, transcript variant 1 (from RefSeq NM_024899.4)
Gencode Transcript: ENST00000262127.7_7
Gencode Gene: ENSG00000101624.11_10
Transcript (Including UTRs)
   Position: hg19 chr18:12,672,624-12,702,722 Size: 30,099 Total Exon Count: 12 Strand: -
Coding Region
   Position: hg19 chr18:12,673,364-12,702,547 Size: 29,184 Coding Exon Count: 12 

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

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr18:12,672,624-12,702,722)mRNA (may differ from genome)Protein (659 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
AlphaFoldBioGPSEnsemblEntrez GeneExonPrimerGeneCards
HGNCMalacardsMGIPubMedReactomeUniProtKB
WikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: CEP76_HUMAN
DESCRIPTION: RecName: Full=Centrosomal protein of 76 kDa; Short=Cep76;
FUNCTION: Centrosomal protein involved in regulation of centriole duplication. Required to limit centriole duplication to once per cell cycle by preventing centriole reduplication.
SUBUNIT: Interacts with CEP110/CP110 and CEP97.
SUBCELLULAR LOCATION: Cytoplasm, cytoskeleton, centrosome. Cytoplasm, cytoskeleton, centrosome, centriole. Note=Does not localize along the ciliary axoneme.
DEVELOPMENTAL STAGE: Expressed at low level in G1 and is induced in S and G2 phase, during which point centrioles have already commenced duplication (at protein level).
SIMILARITY: Belongs to the CEP76 family.
SEQUENCE CAUTION: Sequence=BAG64223.1; Type=Erroneous termination; Positions=648; Note=Translated as Trp;

-  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: CEP76
Diseases sorted by gene-association score: jawad syndrome (13), anonychia congenita (10), nail disease (7), meckel syndrome 1 (1), joubert syndrome 1 (1)

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

+  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: 10.56 RPKM in Testis
Total median expression: 74.61 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 -86.20175-0.493 Picture PostScript Text
3' UTR -138.60740-0.187 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
  Pfam Domains:
PF15627 - CEP76 C2 domain

SCOP Domains:
54001 - Cysteine proteinases

ModBase Predicted Comparative 3D Structure on Q8TAP6
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    
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-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0005515 protein binding

Biological Process:
GO:0000086 G2/M transition of mitotic cell cycle
GO:0010389 regulation of G2/M transition of mitotic cell cycle
GO:0046599 regulation of centriole replication
GO:0097711 ciliary basal body docking

Cellular Component:
GO:0005737 cytoplasm
GO:0005813 centrosome
GO:0005814 centriole
GO:0005815 microtubule organizing center
GO:0005829 cytosol
GO:0005856 cytoskeleton
GO:0032991 macromolecular complex


-  Descriptions from all associated GenBank mRNAs
  AK301964 - Homo sapiens cDNA FLJ60938 complete cds, highly similar to Centrosomal protein of 76 kDa.
BC033026 - Homo sapiens centrosomal protein 76kDa, mRNA (cDNA clone IMAGE:5267551).
BC026307 - Homo sapiens centrosomal protein 76kDa, mRNA (cDNA clone MGC:26034 IMAGE:4792211), complete cds.
LF385255 - JP 2014500723-A/192758: Polycomb-Associated Non-Coding RNAs.
JD469645 - Sequence 450669 from Patent EP1572962.
AK022604 - Homo sapiens cDNA FLJ12542 fis, clone NT2RM4000534.
AK303117 - Homo sapiens cDNA FLJ54339 complete cds, highly similar to Centrosomal protein of 76 kDa.
LF343831 - JP 2014500723-A/151334: Polycomb-Associated Non-Coding RNAs.
KJ894758 - Synthetic construct Homo sapiens clone ccsbBroadEn_04152 CEP76 gene, encodes complete protein.
LF343832 - JP 2014500723-A/151335: Polycomb-Associated Non-Coding RNAs.
AL833727 - Homo sapiens mRNA; cDNA DKFZp666F025 (from clone DKFZp666F025).
DQ591816 - Homo sapiens piRNA piR-58928, complete sequence.
AK298223 - Homo sapiens cDNA FLJ61148 complete cds, moderately similar to Centrosomal protein of 76 kDa.
JD533323 - Sequence 514347 from Patent EP1572962.
JD410548 - Sequence 391572 from Patent EP1572962.
JD462627 - Sequence 443651 from Patent EP1572962.
JD057765 - Sequence 38789 from Patent EP1572962.
JD479861 - Sequence 460885 from Patent EP1572962.
MA620832 - JP 2018138019-A/192758: Polycomb-Associated Non-Coding RNAs.
MA579408 - JP 2018138019-A/151334: Polycomb-Associated Non-Coding RNAs.
MA579409 - JP 2018138019-A/151335: Polycomb-Associated Non-Coding RNAs.

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

Protein Q8TAP6 (Reactome details) participates in the following event(s):

R-HSA-380272 Plk1-mediated phosphorylation of Nlp
R-HSA-380283 Recruitment of additional gamma tubulin/ gamma TuRC to the centrosome
R-HSA-380294 Loss of C-Nap-1 from centrosomes
R-HSA-380311 Recruitment of Plk1 to centrosomes
R-HSA-380455 Recruitment of CDK11p58 to the centrosomes
R-HSA-380303 Dissociation of Phospho-Nlp from the centrosome
R-HSA-5626220 C2CD3 binds the mother centriole
R-HSA-380508 Translocation of NuMA to the centrosomes
R-HSA-2574845 AJUBA binds centrosome-associated AURKA
R-HSA-8853405 TPX2 binds AURKA at centrosomes
R-HSA-3000319 BORA binds PLK1 and AURKA
R-HSA-2574840 AJUBA facilitates AURKA autophosphorylation
R-HSA-3000310 AURKA phosphorylates PLK1
R-HSA-5626223 C2CD3 and OFD1 recruit 5 distal appendage proteins to the centriole
R-HSA-5626681 Recruitment of transition zone proteins
R-HSA-5626227 CP110 and CEP97 dissociate from the centriole
R-HSA-380316 Association of NuMA with microtubules
R-HSA-8853419 TPX2 promotes AURKA autophosphorylation
R-HSA-5626228 The distal appendage proteins recruit TTBK2
R-HSA-5638009 CEP164 recruits RAB3IP-carrying Golgi-derived vesicles to the basal body
R-HSA-5626699 MARK4 binds ODF2 in the centriole
R-HSA-5617816 RAB3IP stimulates nucleotide exchange on RAB8A
R-HSA-380259 Loss of Nlp from mitotic centrosomes
R-HSA-380270 Recruitment of mitotic centrosome proteins and complexes
R-HSA-380284 Loss of proteins required for interphase microtubule organization from the centrosome
R-HSA-5620912 Anchoring of the basal body to the plasma membrane
R-HSA-380320 Recruitment of NuMA to mitotic centrosomes
R-HSA-2565942 Regulation of PLK1 Activity at G2/M Transition
R-HSA-8854518 AURKA Activation by TPX2
R-HSA-380287 Centrosome maturation
R-HSA-5617833 Cilium Assembly
R-HSA-68877 Mitotic Prometaphase
R-HSA-69275 G2/M Transition
R-HSA-1852241 Organelle biogenesis and maintenance
R-HSA-68886 M Phase
R-HSA-453274 Mitotic G2-G2/M phases
R-HSA-69278 Cell Cycle (Mitotic)
R-HSA-1640170 Cell Cycle

-  Other Names for This Gene
  Alternate Gene Symbols: B0YJB2, B4DXG5, B4DZW1, C18orf9, CEP76_HUMAN, ENST00000262127.1, ENST00000262127.2, ENST00000262127.3, ENST00000262127.4, ENST00000262127.5, ENST00000262127.6, NM_024899, Q658N5, Q8TAP6, Q9H9U7, uc317gxb.1, uc317gxb.2
UCSC ID: ENST00000262127.7_7
RefSeq Accession: NM_024899.4
Protein: Q8TAP6 (aka CEP76_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.