Human Gene CENPL (ENST00000682279.1_4) from GENCODE V47lift37
  Description: centromere protein L, transcript variant 17 (from RefSeq NR_170629.1)
Gencode Transcript: ENST00000682279.1_4
Gencode Gene: ENSG00000120334.16_9
Transcript (Including UTRs)
   Position: hg19 chr1:173,768,688-173,794,021 Size: 25,334 Total Exon Count: 6 Strand: -
Coding Region
   Position: hg19 chr1:173,769,586-173,780,437 Size: 10,852 Coding Exon Count: 4 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
Gene AllelesRNA StructureProtein StructureOther SpeciesGO AnnotationsmRNA Descriptions
PathwaysOther NamesModel InformationMethods
Data last updated at UCSC: 2024-08-22 23:36:26

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr1:173,768,688-173,794,021)mRNA (may differ from genome)Protein (344 aa)
Gene SorterGenome BrowserOther Species FASTAGene interactionsTable SchemaAlphaFold
BioGPSEnsemblExonPrimerGeneCardsHGNCMalacards
MGIPubMedReactomeUniProtKBWikipedia

-  Comments and Description Text from UniProtKB
  ID: CENPL_HUMAN
DESCRIPTION: RecName: Full=Centromere protein L; Short=CENP-L; AltName: Full=Interphase centromere complex protein 33;
FUNCTION: Component of the CENPA-CAD (nucleosome distal) complex, a complex recruited to centromeres which is involved in assembly of kinetochore proteins, mitotic progression and chromosome segregation. May be involved in incorporation of newly synthesized CENPA into centromeres via its interaction with the CENPA-NAC complex.
SUBUNIT: Component of the CENPA-CAD complex, composed of CENPI, CENPK, CENPL, CENPO, CENPP, CENPQ, CENPR and CENPS. The CENPA-CAD complex interacts with the CENPA-NAC complex, at least composed of CENPA, CENPC, CENPH, CENPM, CENPN, CENPT and MLF1IP/CENPU.
SUBCELLULAR LOCATION: Nucleus. Chromosome, centromere. Note=Localizes exclusively in the centromeres. The CENPA-CAD complex is probably recruited on centromeres by the CENPA-NAC complex.

-  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: CENPL
Diseases sorted by gene-association score: seckel syndrome (1)

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene
  • D013749 Tetrachlorodibenzodioxin
  • C072581 16-hydroxycleroda-3,13(14)-dien-15,16-olide
  • C029497 2,3-bis(3'-hydroxybenzyl)butyrolactone
  • C472791 3-(4'-hydroxy-3'-adamantylbiphenyl-4-yl)acrylic acid
  • D015123 7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide
  • C547126 AZM551248
  • D000082 Acetaminophen
  • D016604 Aflatoxin B1
  • D001151 Arsenic
  • D001564 Benzo(a)pyrene
          more ... click here to view the complete list

+  Common Gene Haplotype Alleles
  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 -293.50773-0.380 Picture PostScript Text
3' UTR -238.30898-0.265 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
IPR025204 - CAD_CENP-L

Pfam Domains:
PF13092 - Kinetochore complex Sim4 subunit Fta1

ModBase Predicted Comparative 3D Structure on Q8N0S6
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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
  Molecular Function:
GO:0005515 protein binding

Biological Process:
GO:0034080 CENP-A containing nucleosome assembly

Cellular Component:
GO:0000775 chromosome, centromeric region
GO:0005634 nucleus
GO:0005654 nucleoplasm
GO:0005694 chromosome
GO:0005829 cytosol


-  Descriptions from all associated GenBank mRNAs
  LF383653 - JP 2014500723-A/191156: Polycomb-Associated Non-Coding RNAs.
MA619230 - JP 2018138019-A/191156: Polycomb-Associated Non-Coding RNAs.
BC033154 - Homo sapiens centromere protein L, mRNA (cDNA clone MGC:45781 IMAGE:4139038), complete cds.
LP895762 - Sequence 626 from Patent EP3253886.
AK055606 - Homo sapiens cDNA FLJ31044 fis, clone HSYRA2000253.
BC007071 - Homo sapiens centromere protein L, mRNA (cDNA clone MGC:12534 IMAGE:3682908), complete cds.
BC019022 - Homo sapiens chromosome 1 open reading frame 155, mRNA (cDNA clone IMAGE:4546468).
BC066658 - Homo sapiens centromere protein L, mRNA (cDNA clone MGC:75230 IMAGE:6172418), complete cds.
JD116870 - Sequence 97894 from Patent EP1572962.
JD482559 - Sequence 463583 from Patent EP1572962.
JD324796 - Sequence 305820 from Patent EP1572962.
JD271570 - Sequence 252594 from Patent EP1572962.
JD464108 - Sequence 445132 from Patent EP1572962.
JD366321 - Sequence 347345 from Patent EP1572962.
JD282329 - Sequence 263353 from Patent EP1572962.
JD324795 - Sequence 305819 from Patent EP1572962.
JD366320 - Sequence 347344 from Patent EP1572962.
JD534767 - Sequence 515791 from Patent EP1572962.
JD155823 - Sequence 136847 from Patent EP1572962.
JD177418 - Sequence 158442 from Patent EP1572962.
JD177417 - Sequence 158441 from Patent EP1572962.
JD562754 - Sequence 543778 from Patent EP1572962.
JD236294 - Sequence 217318 from Patent EP1572962.
JD382031 - Sequence 363055 from Patent EP1572962.
JD386822 - Sequence 367846 from Patent EP1572962.
JD386821 - Sequence 367845 from Patent EP1572962.
JD052702 - Sequence 33726 from Patent EP1572962.
JD473558 - Sequence 454582 from Patent EP1572962.
JD274660 - Sequence 255684 from Patent EP1572962.
JD496959 - Sequence 477983 from Patent EP1572962.
JD208726 - Sequence 189750 from Patent EP1572962.
JD158933 - Sequence 139957 from Patent EP1572962.
JD158932 - Sequence 139956 from Patent EP1572962.
JD112120 - Sequence 93144 from Patent EP1572962.
JD158934 - Sequence 139958 from Patent EP1572962.
JD222664 - Sequence 203688 from Patent EP1572962.
JD426044 - Sequence 407068 from Patent EP1572962.
JD181530 - Sequence 162554 from Patent EP1572962.
JD088548 - Sequence 69572 from Patent EP1572962.
JD242966 - Sequence 223990 from Patent EP1572962.
HQ447714 - Synthetic construct Homo sapiens clone IMAGE:100071044; CCSB012754_01 centromere protein L (CENPL) gene, encodes complete protein.
KJ895161 - Synthetic construct Homo sapiens clone ccsbBroadEn_04555 CENPL gene, encodes complete protein.
DQ577745 - Homo sapiens piRNA piR-45857, complete sequence.
BC007923 - Homo sapiens centromere protein L, mRNA (cDNA clone IMAGE:4304500), with apparent retained intron.
AK056348 - Homo sapiens cDNA FLJ31786 fis, clone NT2RI2008526.
JD078843 - Sequence 59867 from Patent EP1572962.
JD341587 - Sequence 322611 from Patent EP1572962.
JD218512 - Sequence 199536 from Patent EP1572962.

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

Protein Q8N0S6 (Reactome details) participates in the following event(s):

R-HSA-141409 Mad1 binds kinetochore
R-HSA-375302 Kinetochore capture of astral microtubules
R-HSA-5666129 CDC42:GTP recruits DIAPH2-2 to kinetochores
R-HSA-5666169 Kinetochore capture of astral microtubules is positively regulated by CDC42:GTP:p-S196-DIAPH2-2
R-HSA-606349 Mis18 complex binds the centromere
R-HSA-141431 MAD2 associates with the Mad1 kinetochore complex
R-HSA-141439 Release of activated MAD2 from kinetochores
R-HSA-2467811 Separation of sister chromatids
R-HSA-2467809 ESPL1 (Separase) cleaves centromeric cohesin
R-HSA-5666160 AURKB phosphorylates DIAPH2-2 at kinetochores
R-HSA-606326 HJURP:CENPA complex localizes to the centromere
R-HSA-141422 MAD2 converted to an inhibitory state via interaction with Mad1
R-HSA-1638821 PP2A-B56 dephosphorylates centromeric cohesin
R-HSA-1638803 Phosphorylation of cohesin by PLK1 at centromeres
R-HSA-2468287 CDK1 phosphorylates CDCA5 (Sororin) at centromeres
R-HSA-141444 Amplification of signal from unattached kinetochores via a MAD2 inhibitory signal
R-HSA-68877 Mitotic Prometaphase
R-HSA-5663220 RHO GTPases Activate Formins
R-HSA-606279 Deposition of new CENPA-containing nucleosomes at the centromere
R-HSA-2500257 Resolution of Sister Chromatid Cohesion
R-HSA-2467813 Separation of Sister Chromatids
R-HSA-141424 Amplification of signal from the kinetochores
R-HSA-68886 M Phase
R-HSA-195258 RHO GTPase Effectors
R-HSA-774815 Nucleosome assembly
R-HSA-68882 Mitotic Anaphase
R-HSA-69618 Mitotic Spindle Checkpoint
R-HSA-69278 Cell Cycle (Mitotic)
R-HSA-194315 Signaling by Rho GTPases
R-HSA-73886 Chromosome Maintenance
R-HSA-2555396 Mitotic Metaphase and Anaphase
R-HSA-69620 Cell Cycle Checkpoints
R-HSA-1640170 Cell Cycle
R-HSA-162582 Signal Transduction

-  Other Names for This Gene
  Alternate Gene Symbols: C1orf155, CENPL_HUMAN, ICEN33, NR_170629, Q5TEL5, Q8N0S6, Q96ND4, uc330jrl.1, uc330jrl.2
UCSC ID: ENST00000682279.1_4
RefSeq Accession: NM_001387287.1
Protein: Q8N0S6 (aka CENPL_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.