Human Gene ERCC6L (ENST00000334463.4_9) from GENCODE V47lift37
  Description: ERCC excision repair 6 like, spindle assembly checkpoint helicase, transcript variant 1 (from RefSeq NM_017669.4)
Gencode Transcript: ENST00000334463.4_9
Gencode Gene: ENSG00000186871.7_11
Transcript (Including UTRs)
   Position: hg19 chrX:71,424,515-71,458,877 Size: 34,363 Total Exon Count: 2 Strand: -
Coding Region
   Position: hg19 chrX:71,424,864-71,458,761 Size: 33,898 Coding Exon Count: 2 

Page IndexSequence and LinksUniProtKB CommentsPrimersCTDGene Alleles
RNA-Seq ExpressionRNA 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 (chrX:71,424,515-71,458,877)mRNA (may differ from genome)Protein (1250 aa)
Gene SorterGenome BrowserOther Species FASTAGene interactionsTable SchemaAlphaFold
BioGPSEnsemblEntrez GeneExonPrimerGeneCardsHGNC
MGIOMIMPubMedReactomeUniProtKBWikipedia
BioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: ERC6L_HUMAN
DESCRIPTION: RecName: Full=DNA excision repair protein ERCC-6-like; EC=3.6.4.12; AltName: Full=ATP-dependent helicase ERCC6-like; AltName: Full=PLK1-interacting checkpoint helicase; AltName: Full=Tumor antigen BJ-HCC-15;
FUNCTION: DNA helicase that acts as an essential component of the spindle assembly checkpoint. Contributes to the mitotic checkpoint by recruiting MAD2 to kinetochores and monitoring tension on centromeric chromatin. Acts as a tension sensor that associates with catenated DNA which is stretched under tension until it is resolved during anaphase.
CATALYTIC ACTIVITY: ATP + H(2)O = ADP + phosphate.
SUBUNIT: Interacts with PLK1, which phosphorylates it. Both proteins are mutually dependent on each other for correct subcellular localization.
SUBCELLULAR LOCATION: Chromosome, centromere. Chromosome, centromere, kinetochore. Note=Localizes to kinetochores, inner centromeres and thin threads connecting separating chromosomes even during anaphase. In prometaphase cells, it mostly concentrates in between kinetochores. In metaphase, it localizes to numerous thin threads that stretch between sister kinetochores of the aligned chromosomes and are composed of catenated centromeric DNA. Evolution from inner centromeres to thin threads takes place in response to tension. Resolution of thin threads requires topoisomerase 2-alpha (TOP2A) after anaphase onset.
PTM: Phosphorylation by PLK1 prevents the association with chromosome arms and restricts its localization to the kinetochore- centromere region.
SIMILARITY: Belongs to the SNF2/RAD54 helicase family.
SIMILARITY: Contains 1 helicase ATP-binding domain.
SIMILARITY: Contains 1 helicase C-terminal domain.
SIMILARITY: Contains 2 TPR repeats.
SEQUENCE CAUTION: Sequence=AAM82750.1; Type=Erroneous termination; Positions=803; Note=Translated as Lys; Sequence=BAA90952.1; Type=Erroneous termination; Positions=803; Note=Translated as Lys;

-  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


-  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: 3.66 RPKM in Cells - EBV-transformed lymphocytes
Total median expression: 11.36 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 -38.00116-0.328 Picture PostScript Text
3' UTR -59.40349-0.170 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
IPR014001 - Helicase_ATP-bd
IPR001650 - Helicase_C
IPR000330 - SNF2_N
IPR013026 - TPR-contain_dom
IPR011990 - TPR-like_helical

Pfam Domains:
PF00176 - SNF2-related domain
PF00271 - Helicase conserved C-terminal domain
PF04851 - Type III restriction enzyme, res subunit

SCOP Domains:
81901 - HCP-like
48452 - TPR-like
52540 - P-loop containing nucleoside triphosphate hydrolases

ModBase Predicted Comparative 3D Structure on Q2NKX8
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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:0000166 nucleotide binding
GO:0003677 DNA binding
GO:0004386 helicase activity
GO:0005515 protein binding
GO:0005524 ATP binding
GO:0015616 DNA translocase activity
GO:0016787 hydrolase activity

Biological Process:
GO:0007049 cell cycle
GO:0051301 cell division

Cellular Component:
GO:0000775 chromosome, centromeric region
GO:0000776 kinetochore
GO:0000777 condensed chromosome kinetochore
GO:0005694 chromosome
GO:0005829 cytosol
GO:0016020 membrane


-  Descriptions from all associated GenBank mRNAs
  BC111486 - Homo sapiens excision repair cross-complementing rodent repair deficiency, complementation group 6-like, mRNA (cDNA clone MGC:131695 IMAGE:5529990), complete cds.
AK056494 - Homo sapiens cDNA FLJ31932 fis, clone NT2RP7006296, weakly similar to EXCISION REPAIR PROTEIN ERCC-6.
EU069463 - Homo sapiens Plk1-interacting checkpoint helicase (PICH) mRNA, complete cds.
AK074719 - Homo sapiens cDNA FLJ90238 fis, clone NT2RM2000632, weakly similar to EXCISION REPAIR PROTEIN ERCC-6.
JD369272 - Sequence 350296 from Patent EP1572962.
BC008808 - Homo sapiens excision repair cross-complementing rodent repair deficiency, complementation group 6-like, mRNA (cDNA clone IMAGE:3951541), partial cds.
AK000112 - Homo sapiens cDNA FLJ20105 fis, clone COL04811.
AY121802 - Homo sapiens BJ-HCC-15 tumor antigen mRNA, complete cds.
JD549274 - Sequence 530298 from Patent EP1572962.
JD386589 - Sequence 367613 from Patent EP1572962.
KJ902696 - Synthetic construct Homo sapiens clone ccsbBroadEn_12090 ERCC6L gene, encodes complete protein.
LF381825 - JP 2014500723-A/189328: Polycomb-Associated Non-Coding RNAs.
LF381826 - JP 2014500723-A/189329: Polycomb-Associated Non-Coding RNAs.
CU679123 - Synthetic construct Homo sapiens gateway clone IMAGE:100019315 5' read ERCC6L mRNA.
LF381827 - JP 2014500723-A/189330: Polycomb-Associated Non-Coding RNAs.
LF381828 - JP 2014500723-A/189331: Polycomb-Associated Non-Coding RNAs.
LF381829 - JP 2014500723-A/189332: Polycomb-Associated Non-Coding RNAs.
LF381830 - JP 2014500723-A/189333: Polycomb-Associated Non-Coding RNAs.
LF381831 - JP 2014500723-A/189334: Polycomb-Associated Non-Coding RNAs.
LF381832 - JP 2014500723-A/189335: Polycomb-Associated Non-Coding RNAs.
JD111165 - Sequence 92189 from Patent EP1572962.
LF381833 - JP 2014500723-A/189336: Polycomb-Associated Non-Coding RNAs.
JD491453 - Sequence 472477 from Patent EP1572962.
JD440348 - Sequence 421372 from Patent EP1572962.
JD289096 - Sequence 270120 from Patent EP1572962.
JD310701 - Sequence 291725 from Patent EP1572962.
JD444761 - Sequence 425785 from Patent EP1572962.
LF211603 - JP 2014500723-A/19106: Polycomb-Associated Non-Coding RNAs.
LF381834 - JP 2014500723-A/189337: Polycomb-Associated Non-Coding RNAs.
LF381835 - JP 2014500723-A/189338: Polycomb-Associated Non-Coding RNAs.
JD062011 - Sequence 43035 from Patent EP1572962.
LF381836 - JP 2014500723-A/189339: Polycomb-Associated Non-Coding RNAs.
LF381837 - JP 2014500723-A/189340: Polycomb-Associated Non-Coding RNAs.
LF381838 - JP 2014500723-A/189341: Polycomb-Associated Non-Coding RNAs.
LF381839 - JP 2014500723-A/189342: Polycomb-Associated Non-Coding RNAs.
LF381840 - JP 2014500723-A/189343: Polycomb-Associated Non-Coding RNAs.
MA617402 - JP 2018138019-A/189328: Polycomb-Associated Non-Coding RNAs.
MA617403 - JP 2018138019-A/189329: Polycomb-Associated Non-Coding RNAs.
MA617404 - JP 2018138019-A/189330: Polycomb-Associated Non-Coding RNAs.
MA617405 - JP 2018138019-A/189331: Polycomb-Associated Non-Coding RNAs.
MA617406 - JP 2018138019-A/189332: Polycomb-Associated Non-Coding RNAs.
MA617407 - JP 2018138019-A/189333: Polycomb-Associated Non-Coding RNAs.
MA617408 - JP 2018138019-A/189334: Polycomb-Associated Non-Coding RNAs.
MA617409 - JP 2018138019-A/189335: Polycomb-Associated Non-Coding RNAs.
MA617410 - JP 2018138019-A/189336: Polycomb-Associated Non-Coding RNAs.
MA447180 - JP 2018138019-A/19106: Polycomb-Associated Non-Coding RNAs.
MA617411 - JP 2018138019-A/189337: Polycomb-Associated Non-Coding RNAs.
MA617412 - JP 2018138019-A/189338: Polycomb-Associated Non-Coding RNAs.
MA617413 - JP 2018138019-A/189339: Polycomb-Associated Non-Coding RNAs.
MA617414 - JP 2018138019-A/189340: Polycomb-Associated Non-Coding RNAs.
MA617415 - JP 2018138019-A/189341: Polycomb-Associated Non-Coding RNAs.
MA617416 - JP 2018138019-A/189342: Polycomb-Associated Non-Coding RNAs.
MA617417 - JP 2018138019-A/189343: Polycomb-Associated Non-Coding RNAs.
LF381842 - JP 2014500723-A/189345: Polycomb-Associated Non-Coding RNAs.
MA617419 - JP 2018138019-A/189345: Polycomb-Associated Non-Coding RNAs.

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

Protein Q2NKX8 (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-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-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-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-68882 Mitotic Anaphase
R-HSA-69618 Mitotic Spindle Checkpoint
R-HSA-69278 Cell Cycle (Mitotic)
R-HSA-194315 Signaling by Rho GTPases
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: ENST00000334463.1, ENST00000334463.2, ENST00000334463.3, ERC6L_HUMAN, NM_017669, PICH , Q2NKX8, Q8NCI1, Q96H93, Q9NXQ8, uc317tyz.1, uc317tyz.2
UCSC ID: ENST00000334463.4_9
RefSeq Accession: NM_017669.4
Protein: Q2NKX8 (aka ERC6L_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.