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Aliases for ERCC6L Gene

Aliases for ERCC6L Gene

  • ERCC Excision Repair 6 Like, Spindle Assembly Checkpoint Helicase 2 3 5
  • Excision Repair Cross-Complementing Rodent Repair Deficiency, Complementation Group 6-Like 2 3
  • Excision Repair Cross-Complementation Group 6 Like 2 3
  • PLK1-Interacting Checkpoint Helicase 2 4
  • ATP-Dependent Helicase ERCC6-Like 3 4
  • Tumor Antigen BJ-HCC-15 3 4
  • PICH 3 4
  • Excision Repair Cross-Complementing Rodent Repair Deficiency Complementation Group 6 - Like 3
  • DNA Excision Repair Protein ERCC-6-Like 3
  • Plk1-Interacting Checkpoint Helicase 3
  • Excision Repair Protein ERCC6-Like 3
  • SNF2/RAD54 Family Protein 3
  • EC 3.6.4.12 4
  • EC 3.6.1 58
  • RAD26L 3

External Ids for ERCC6L Gene

Previous GeneCards Identifiers for ERCC6L Gene

  • GC0XM071342
  • GC0XM071343
  • GC0XM071424
  • GC0XM065178

Summaries for ERCC6L Gene

Entrez Gene Summary for ERCC6L Gene

  • This gene encodes a member of the SWItch/Sucrose Non-Fermentable (SWI/SNF2) family of proteins, and contains a SNF2-like ATPase domain and a PICH family domain. One distinguishing feature of this SWI/SNF protein family member is that during interphase, the protein is excluded from the nucleus, and only associates with chromatin after the nuclear envelope has broken down. This protein is a DNA translocase that is thought to bind double-stranded DNA that is exposed to stretching forces, such as those exerted by the mitotic spindle. This protein associates with ribosomal DNA and ultra-fine DNA bridges (UFBs), fine structures that connect sister chromatids during anaphase at some sites such as fragile sites, telomeres and centromeres. This gene is required for the faithful segregation of sister chromatids during mitosis, and the ATPase activity of this protein required for the resolution of UFBs before cytokinesis. [provided by RefSeq, May 2017]

GeneCards Summary for ERCC6L Gene

ERCC6L (ERCC Excision Repair 6 Like, Spindle Assembly Checkpoint Helicase) is a Protein Coding gene. Among its related pathways are DNA Damage and Cell Cycle, Mitotic. GO annotations related to this gene include nucleic acid binding and helicase activity. An important paralog of this gene is PGBD3.

UniProtKB/Swiss-Prot for ERCC6L Gene

  • 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.

Additional gene information for ERCC6L Gene

No data available for CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ERCC6L Gene

Genomics for ERCC6L Gene

Regulatory Elements for ERCC6L Gene

Enhancers for ERCC6L Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH0XH072272 1.1 ENCODE 45.2 -35.9 -35859 6 HDGF ARNT ARID4B SIN3A FEZF1 DMAP1 ZNF2 YY1 ZNF207 ZNF143 TAF1 NONO LOC100420758 ERCC6L OGT RTL5 LOC392489 ENSG00000229601 TOMM20P4 NAP1L2
GH0XH071530 1.4 ENCODE dbSUPER 10.2 +705.8 705778 4.8 PKNOX1 FOXA2 ARNT ARID4B SIN3A FEZF1 DMAP1 ZNF2 YY1 ZNF207 TAF1 GCNA MED12 NONO ERCC6L OGT
GH0XH071250 1 ENCODE 13.1 +985.3 985261 6.1 HDGF PKNOX1 ARNT SIN3A FEZF1 GLI4 ZNF2 BRCA1 YY1 ZNF766 TAF1 LOC100420758 MED12 NONO OGT ERCC6L ARR3 ENSG00000229601 SNX12 P2RY4
GH0XH072180 1.1 ENCODE 11.7 +57.4 57443 2.6 ARNT SIN3A FEZF1 ZNF2 YY1 FOS SP3 NFYC JUNB ZNF592 TAF1 ERCC6L PIN4 RN7SL388P
GH0XH072238 0.9 ENCODE 10.9 +0.1 116 1.4 TBP ATF1 RB1 INSM2 ARID4B SIN3A EGR1 CREM EGR2 GMEB2 PIN4 TAF1 NONO ZMYM3 ERCC6L GC0XM072223
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around ERCC6L on UCSC Golden Path with GeneCards custom track

Promoters for ERCC6L Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000247200 246 1600 TBP ATF1 RB1 INSM2 ARID4B SIN3A EGR1 CREM EGR2 ZNF280D

Genomic Locations for ERCC6L Gene

Genomic Locations for ERCC6L Gene
chrX:72,204,657-72,239,047
(GRCh38/hg38)
Size:
34,391 bases
Orientation:
Minus strand
chrX:71,424,507-71,458,897
(GRCh37/hg19)

Genomic View for ERCC6L Gene

Genes around ERCC6L on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ERCC6L Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ERCC6L Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ERCC6L Gene

Proteins for ERCC6L Gene

  • Protein details for ERCC6L Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q2NKX8-ERC6L_HUMAN
    Recommended name:
    DNA excision repair protein ERCC-6-like
    Protein Accession:
    Q2NKX8
    Secondary Accessions:
    • Q8NCI1
    • Q96H93
    • Q9NXQ8

    Protein attributes for ERCC6L Gene

    Size:
    1250 amino acids
    Molecular mass:
    141103 Da
    Quaternary structure:
    • Interacts with PLK1, which phosphorylates it. Both proteins are mutually dependent on each other for correct subcellular localization.
    SequenceCaution:
    • Sequence=AAM82750.1; Type=Erroneous termination; Positions=803; Note=Translated as Lys.; Evidence={ECO:0000305}; Sequence=BAA90952.1; Type=Erroneous termination; Positions=803; Note=Translated as Lys.; Evidence={ECO:0000305};

neXtProt entry for ERCC6L Gene

Selected DME Specific Peptides for ERCC6L Gene

Q2NKX8:
  • LFDFACQGSLLGT
  • TRSPLAEL
  • NRLLLTGTP
  • LADDMGLGKT
  • FLLTTQVGGVG
  • IIKPYFLRRTK
  • VLKKLCDHPRLLS
  • RVVIFDPSWNPATDAQAVDR
  • GLGKTVQ

Post-translational modifications for ERCC6L Gene

  • Phosphorylation by PLK1 prevents the association with chromosome arms and restricts its localization to the kinetochore-centromere region.
  • Ubiquitination at isoforms=55 and isoforms=576
  • Modification sites at PhosphoSitePlus

Other Protein References for ERCC6L Gene

ENSEMBL proteins:
REFSEQ proteins:

Domains & Families for ERCC6L Gene

Gene Families for ERCC6L Gene

Human Protein Atlas (HPA):
  • Enzymes
  • Predicted intracellular proteins

Suggested Antigen Peptide Sequences for ERCC6L Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q2NKX8

UniProtKB/Swiss-Prot:

ERC6L_HUMAN :
  • Belongs to the SNF2/RAD54 helicase family.
Family:
  • Belongs to the SNF2/RAD54 helicase family.
genes like me logo Genes that share domains with ERCC6L: view

Function for ERCC6L Gene

Molecular function for ERCC6L Gene

UniProtKB/Swiss-Prot CatalyticActivity:
ATP + H(2)O = ADP + phosphate.
UniProtKB/Swiss-Prot 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.

Enzyme Numbers (IUBMB) for ERCC6L Gene

Gene Ontology (GO) - Molecular Function for ERCC6L Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003677 DNA binding IEA --
GO:0004386 helicase activity IEA --
GO:0005515 protein binding IPI 20360068
GO:0005524 ATP binding IEA --
GO:0016787 hydrolase activity IEA --
genes like me logo Genes that share ontologies with ERCC6L: view
genes like me logo Genes that share phenotypes with ERCC6L: view

Clone Products

No data available for Phenotypes From GWAS Catalog , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for ERCC6L Gene

Localization for ERCC6L Gene

Subcellular locations from UniProtKB/Swiss-Prot for ERCC6L Gene

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.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for ERCC6L gene
Compartment Confidence
cytosol 5
nucleus 4
plasma membrane 2
cytoskeleton 2

Subcellular locations from the

Human Protein Atlas (HPA)
  • Centrosome (3)
  • Cytosol (3)
  • Nucleoplasm (3)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for ERCC6L Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000775 chromosome, centromeric region IEA --
GO:0000776 kinetochore IEA --
GO:0000777 condensed chromosome kinetochore IEA --
GO:0005694 chromosome IEA --
GO:0005829 cytosol TAS --
genes like me logo Genes that share ontologies with ERCC6L: view

Pathways & Interactions for ERCC6L Gene

genes like me logo Genes that share pathways with ERCC6L: view

Pathways by source for ERCC6L Gene

1 Cell Signaling Technology pathway for ERCC6L Gene
1 BioSystems pathway for ERCC6L Gene

SIGNOR curated interactions for ERCC6L Gene

Is activated by:

Gene Ontology (GO) - Biological Process for ERCC6L Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007049 cell cycle IEA --
GO:0007062 sister chromatid cohesion TAS --
GO:0051301 cell division IEA --
genes like me logo Genes that share ontologies with ERCC6L: view

Drugs & Compounds for ERCC6L Gene

(3) Drugs for ERCC6L Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Phosphoric acid Approved Pharma 0
Water Approved Pharma 0
ATP Nutra Agonist 0

(1) Additional Compounds for ERCC6L Gene - From: HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
ADP
  • Adenosindiphosphorsaeure
  • Adenosine 5'-pyrophosphate
  • Adenosine diphosphate
  • Adenosine pyrophosphate
  • Adenosine-5'-diphosphate
Full agonist, Agonist 58-64-0
genes like me logo Genes that share compounds with ERCC6L: view

Transcripts for ERCC6L Gene

mRNA/cDNA for ERCC6L Gene

(2) REFSEQ mRNAs :
(7) Additional mRNA sequences :
(2) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for ERCC6L Gene

Excision repair cross-complementing rodent repair deficiency, complementation group 6-like:
Representative Sequences:

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for ERCC6L Gene

No ASD Table

Relevant External Links for ERCC6L Gene

GeneLoc Exon Structure for
ERCC6L
ECgene alternative splicing isoforms for
ERCC6L

Expression for ERCC6L Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for ERCC6L Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for ERCC6L Gene

This gene is overexpressed in Cerebrospinal fluid (38.4), Serum (13.6), and Breast (11.5).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for ERCC6L Gene



NURSA nuclear receptor signaling pathways regulating expression of ERCC6L Gene:

ERCC6L

SOURCE GeneReport for Unigene cluster for ERCC6L Gene:

Hs.47558

Evidence on tissue expression from TISSUES for ERCC6L Gene

  • Intestine(4.1)
genes like me logo Genes that share expression patterns with ERCC6L: view

No data available for mRNA differential expression in normal tissues , Protein tissue co-expression partners , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for ERCC6L Gene

Orthologs for ERCC6L Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for ERCC6L Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia ERCC6L 33 34
  • 99.79 (n)
cow
(Bos Taurus)
Mammalia ERCC6L 33 34
  • 88.38 (n)
dog
(Canis familiaris)
Mammalia ERCC6L 33 34
  • 87.51 (n)
rat
(Rattus norvegicus)
Mammalia Ercc6l 33
  • 81.11 (n)
mouse
(Mus musculus)
Mammalia Ercc6l 33 16 34
  • 80.97 (n)
oppossum
(Monodelphis domestica)
Mammalia ERCC6L 34
  • 58 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia ERCC6L 34
  • 56 (a)
OneToOne
chicken
(Gallus gallus)
Aves ERCC6L 33 34
  • 60.69 (n)
lizard
(Anolis carolinensis)
Reptilia -- 34
  • 64 (a)
OneToMany
-- 34
  • 62 (a)
OneToMany
-- 34
  • 51 (a)
OneToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia ercc6l 33
  • 59.49 (n)
zebrafish
(Danio rerio)
Actinopterygii ercc6l 34
  • 39 (a)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea csb-1 34
  • 18 (a)
ManyToMany
F53H4.6 34
  • 15 (a)
ManyToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes RAD26 34
  • 19 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 48 (a)
OneToOne
Species where no ortholog for ERCC6L was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for ERCC6L Gene

ENSEMBL:
Gene Tree for ERCC6L (if available)
TreeFam:
Gene Tree for ERCC6L (if available)

Paralogs for ERCC6L Gene

Paralogs for ERCC6L Gene

(4) SIMAP similar genes for ERCC6L Gene using alignment to 2 proteins:

genes like me logo Genes that share paralogs with ERCC6L: view

Variants for ERCC6L Gene

Sequence variations from dbSNP and Humsavar for ERCC6L Gene

SNP ID Clin Chr 0X pos Sequence Context AA Info Type
rs1057518449 Uncertain significance 72,205,955(-) CAAGT(-/GAGGCCAAGT)TGGAA intron-variant, reference, frameshift-variant
rs1000307391 -- 72,231,737(+) TTAGT(A/G)GAGAC intron-variant
rs1000381258 -- 72,222,482(+) TCAGG(C/T)GACAG intron-variant
rs1000648071 -- 72,215,339(+) CACCA(A/G)ATGTA intron-variant
rs1000698302 -- 72,238,274(+) CGCCC(C/T)CCACC intron-variant

Variation tolerance for ERCC6L Gene

Residual Variation Intolerance Score: 40.4% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.28; 40.82% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for ERCC6L Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
ERCC6L

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Structural Variations from Database of Genomic Variants (DGV) for ERCC6L Gene

Disorders for ERCC6L Gene

Relevant External Links for ERCC6L

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
ERCC6L

No disorders were found for ERCC6L Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for ERCC6L Gene

Publications for ERCC6L Gene

  1. PICH, a centromere-associated SNF2 family ATPase, is regulated by Plk1 and required for the spindle checkpoint. (PMID: 17218258) Baumann C … Nigg EA (Cell 2007) 2 3 4 60
  2. PICH promotes sister chromatid disjunction and co-operates with topoisomerase II in mitosis. (PMID: 26643143) Nielsen CF … Hickson ID (Nature communications 2015) 2 3 60
  3. Depletion of topoisomerase IIalpha leads to shortening of the metaphase interkinetochore distance and abnormal persistence of PICH-coated anaphase threads. (PMID: 17956945) Spence JM … Farr CJ (Journal of cell science 2007) 3 4 60
  4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 60
  5. Architecture of the human interactome defines protein communities and disease networks. (PMID: 28514442) Huttlin EL … Harper JW (Nature 2017) 3 60

Products for ERCC6L Gene

Sources for ERCC6L Gene

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