Human Gene CEP170 (uc021plo.1)
  Description: Homo sapiens centrosomal protein 170kDa (CEP170), transcript variant alpha, mRNA.
RefSeq Summary (NM_014812): The product of this gene is a component of the centrosome, a non-membraneous organelle that functions as the major microtubule-organizing center in animal cells. During interphase, the encoded protein localizes to the sub-distal appendages of mature centrioles, which are microtubule-based structures thought to help organize centrosomes. During mitosis, the protein associates with spindle microtubules near the centrosomes. The protein interacts with and is phosphorylated by polo-like kinase 1, and functions in maintaining microtubule organization and cell morphology. The human genome contains a putative transcribed pseudogene. Several alternatively spliced transcript variants of this gene have been found, but the full-length nature of some of these variants has not been determined. [provided by RefSeq, Jul 2008].
Transcript (Including UTRs)
   Position: hg19 chr1:243,287,730-243,418,708 Size: 130,979 Total Exon Count: 20 Strand: -
Coding Region
   Position: hg19 chr1:243,289,751-243,388,582 Size: 98,832 Coding Exon Count: 19 

Page IndexSequence and LinksUniProtKB CommentsPrimersGenetic AssociationsMalaCards
CTDGene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein Structure
Other SpeciesGO AnnotationsmRNA DescriptionsOther NamesModel InformationMethods
Data last updated at UCSC: 2013-06-14

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr1:243,287,730-243,418,708)mRNA (may differ from genome)Protein (1584 aa)
Gene SorterGenome BrowserOther Species FASTAGene interactionsTable SchemaAlphaFold
BioGPSEnsemblEntrez GeneExonPrimerGeneCardsGeneNetwork
H-INVHGNCHPRDLynxMalacardsMGI
neXtProtOMIMPubMedTreefamUniProtKBWikipedia
BioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: CE170_HUMAN
DESCRIPTION: RecName: Full=Centrosomal protein of 170 kDa; Short=Cep170; AltName: Full=KARP-1-binding protein; Short=KARP1-binding protein;
FUNCTION: Plays a role in microtubule organization.
SUBUNIT: Interacts with PLK1.
INTERACTION: P12520:vpr (xeno); NbExp=4; IntAct=EBI-1104799, EBI-6164519;
SUBCELLULAR LOCATION: Cytoplasm, cytoskeleton, centrosome, centriole. Cytoplasm, cytoskeleton, spindle. Note=Associated with the mature mother centriole. Associated with spindle microtubules during mitosis.
PTM: Phosphorylated; probably by PLK1. Phosphorylated upon DNA damage, probably by ATM or ATR.
SIMILARITY: Belongs to the CEP170 family.
SIMILARITY: Contains 1 FHA domain.
SEQUENCE CAUTION: Sequence=BAA32315.2; 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


-  Genetic Association Studies of Complex Diseases and Disorders
  Genetic Association Database (archive): CEP170
CDC HuGE Published Literature: CEP170

-  MalaCards Disease Associations
  MalaCards Gene Search: CEP170
Diseases sorted by gene-association score: scurvy (5)

-  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: 14.60 RPKM in Brain - Cerebellar Hemisphere
Total median expression: 237.90 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 -175.34408-0.430 Picture PostScript Text
3' UTR -448.332021-0.222 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
IPR026644 - CEP170
IPR000253 - FHA_dom
IPR008984 - SMAD_FHA_domain

Pfam Domains:
PF00498 - FHA domain
PF15308 - CEP170 C-terminus
PF16697 - Inner membrane component of T3SS, cytoplasmic domain

SCOP Domains:
49879 - SMAD/FHA domain

ModBase Predicted Comparative 3D Structure on Q5SW79
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 orthologGenome BrowserNo orthologNo orthologNo ortholog
      
      
  Ensembl   
  Protein Sequence   
  Alignment   

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

Cellular Component:
GO:0005737 cytoplasm
GO:0005813 centrosome
GO:0005814 centriole
GO:0005819 spindle
GO:0005829 cytosol
GO:0005856 cytoskeleton
GO:0005874 microtubule
GO:0005886 plasma membrane


-  Descriptions from all associated GenBank mRNAs
  LF205478 - JP 2014500723-A/12981: Polycomb-Associated Non-Coding RNAs.
AK299552 - Homo sapiens cDNA FLJ60844 complete cds, highly similar to Homo sapiens centrosomal protein 170 kDa (CEP170), transcript variant alpha, mRNA.
AK296812 - Homo sapiens cDNA FLJ53512 partial cds, highly similar to Homo sapiens centrosomal protein 170 kDa (CEP170), transcript variant alpha, mRNA.
BC050722 - Homo sapiens centrosomal protein 170kDa, mRNA (cDNA clone IMAGE:6067305), partial cds.
AK310003 - Homo sapiens cDNA, FLJ17045.
MA441055 - JP 2018138019-A/12981: Polycomb-Associated Non-Coding RNAs.
AL161964 - Homo sapiens mRNA; cDNA DKFZp564B0982 (from clone DKFZp564B0982); partial cds.
BC146790 - Homo sapiens centrosomal protein 170kDa, mRNA (cDNA clone MGC:166884 IMAGE:9007254), complete cds.
AB007939 - Homo sapiens KIAA0470 mRNA for KIAA0470 protein.
AB022657 - Homo sapiens mRNA for KARP-1-binding protein 1 (KAB1), complete cds.
AB022658 - Homo sapiens mRNA for KARP-1-binding protein 2 (KAB2), complete cds.
AB022659 - Homo sapiens mRNA for KARP-1-binding protein 3, complete cds.
JD299190 - Sequence 280214 from Patent EP1572962.
BC078155 - Homo sapiens centrosomal protein 170kDa, mRNA (cDNA clone IMAGE:6051000), partial cds.
JD305122 - Sequence 286146 from Patent EP1572962.
JD417954 - Sequence 398978 from Patent EP1572962.
JD328204 - Sequence 309228 from Patent EP1572962.
AK001664 - Homo sapiens cDNA FLJ10802 fis, clone NT2RP4000817, highly similar to Homo sapiens centrosomal protein 170 kDa (CEP170), transcript variant alpha, mRNA.
JD184460 - Sequence 165484 from Patent EP1572962.
JD539610 - Sequence 520634 from Patent EP1572962.
JD525986 - Sequence 507010 from Patent EP1572962.
LF320872 - JP 2014500723-A/128375: Polycomb-Associated Non-Coding RNAs.
JD093367 - Sequence 74391 from Patent EP1572962.
BC140794 - Homo sapiens centrosomal protein 170kDa, mRNA (cDNA clone MGC:176471 IMAGE:9021662), complete cds.
JD166630 - Sequence 147654 from Patent EP1572962.
JD313979 - Sequence 295003 from Patent EP1572962.
JD302785 - Sequence 283809 from Patent EP1572962.
LF320873 - JP 2014500723-A/128376: Polycomb-Associated Non-Coding RNAs.
AK313722 - Homo sapiens cDNA, FLJ94318.
AB383890 - Synthetic construct DNA, clone: pF1KSDA0470, Homo sapiens CEP170 gene for centrosomal protein 170 kDa, complete cds, without stop codon, in Flexi system.
LF320874 - JP 2014500723-A/128377: Polycomb-Associated Non-Coding RNAs.
JD504459 - Sequence 485483 from Patent EP1572962.
JD280629 - Sequence 261653 from Patent EP1572962.
JD341154 - Sequence 322178 from Patent EP1572962.
LF205480 - JP 2014500723-A/12983: Polycomb-Associated Non-Coding RNAs.
LF320878 - JP 2014500723-A/128381: Polycomb-Associated Non-Coding RNAs.
LF320879 - JP 2014500723-A/128382: Polycomb-Associated Non-Coding RNAs.
AK308309 - Homo sapiens cDNA, FLJ98257.
LF320880 - JP 2014500723-A/128383: Polycomb-Associated Non-Coding RNAs.
LF320881 - JP 2014500723-A/128384: Polycomb-Associated Non-Coding RNAs.
LF320884 - JP 2014500723-A/128387: Polycomb-Associated Non-Coding RNAs.
LF320885 - JP 2014500723-A/128388: Polycomb-Associated Non-Coding RNAs.
LF320887 - JP 2014500723-A/128390: Polycomb-Associated Non-Coding RNAs.
LF320889 - JP 2014500723-A/128392: Polycomb-Associated Non-Coding RNAs.
LF320890 - JP 2014500723-A/128393: Polycomb-Associated Non-Coding RNAs.
LF320893 - JP 2014500723-A/128396: Polycomb-Associated Non-Coding RNAs.
LF320894 - JP 2014500723-A/128397: Polycomb-Associated Non-Coding RNAs.
LF320896 - JP 2014500723-A/128399: Polycomb-Associated Non-Coding RNAs.
LF320897 - JP 2014500723-A/128400: Polycomb-Associated Non-Coding RNAs.
JD130208 - Sequence 111232 from Patent EP1572962.
LF320899 - JP 2014500723-A/128402: Polycomb-Associated Non-Coding RNAs.
MA556449 - JP 2018138019-A/128375: Polycomb-Associated Non-Coding RNAs.
MA556450 - JP 2018138019-A/128376: Polycomb-Associated Non-Coding RNAs.
MA556451 - JP 2018138019-A/128377: Polycomb-Associated Non-Coding RNAs.
MA441057 - JP 2018138019-A/12983: Polycomb-Associated Non-Coding RNAs.
MA556455 - JP 2018138019-A/128381: Polycomb-Associated Non-Coding RNAs.
MA556456 - JP 2018138019-A/128382: Polycomb-Associated Non-Coding RNAs.
MA556457 - JP 2018138019-A/128383: Polycomb-Associated Non-Coding RNAs.
MA556458 - JP 2018138019-A/128384: Polycomb-Associated Non-Coding RNAs.
MA556461 - JP 2018138019-A/128387: Polycomb-Associated Non-Coding RNAs.
MA556462 - JP 2018138019-A/128388: Polycomb-Associated Non-Coding RNAs.
MA556464 - JP 2018138019-A/128390: Polycomb-Associated Non-Coding RNAs.
MA556466 - JP 2018138019-A/128392: Polycomb-Associated Non-Coding RNAs.
MA556467 - JP 2018138019-A/128393: Polycomb-Associated Non-Coding RNAs.
MA556470 - JP 2018138019-A/128396: Polycomb-Associated Non-Coding RNAs.
MA556471 - JP 2018138019-A/128397: Polycomb-Associated Non-Coding RNAs.
MA556473 - JP 2018138019-A/128399: Polycomb-Associated Non-Coding RNAs.
MA556474 - JP 2018138019-A/128400: Polycomb-Associated Non-Coding RNAs.
MA556476 - JP 2018138019-A/128402: Polycomb-Associated Non-Coding RNAs.

-  Other Names for This Gene
  Alternate Gene Symbols: CE170_HUMAN, FAM68A, KAB, KIAA0470, NM_014812, NP_055627, O75058, Q5SW77, Q5SW78, Q5SW79, Q7LGA9, Q86W31, Q9UQ08, Q9UQ09
UCSC ID: uc021plo.1
RefSeq Accession: NM_014812
Protein: Q5SW79 (aka CE170_HUMAN)
CCDS: CCDS44339.1

-  Gene Model Information
 
category: coding nonsense-mediated-decay: no RNA accession: NM_014812.2
exon count: 20CDS single in 3' UTR: no RNA size: 7204
ORF size: 4755CDS single in intron: no Alignment % ID: 100.00
txCdsPredict score: 9677.00frame shift in genome: no % Coverage: 99.69
has start codon: yes stop codon in genome: no # of Alignments: 1
has end codon: yes retained intron: yes # AT/AC introns 1
selenocysteine: no end bleed into intron: 2185# strange splices: 0
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.