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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
  • 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 Cell Cycle, Mitotic and Signaling by Rho GTPases. Gene Ontology (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 (PubMed:17218258). Acts as a tension sensor that associates with catenated DNA which is stretched under tension until it is resolved during anaphase (PubMed:17218258, PubMed:23973328). Functions as ATP-dependent DNA translocase (PubMed:23973328, PubMed:28977671). Can promote Holliday junction branch migration (in vitro) (PubMed:23973328).

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

GeneHancer (GH) Regulatory Elements for ERCC6L Gene

Promoters and enhancers for ERCC6L Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH0XJ072238 Promoter/Enhancer 1.9 EPDnew Ensembl ENCODE 672.4 +0.2 226 1.6 ATF1 ARID4B SIN3A ZNF48 POLR2B ZNF213 SP3 GTF2B NFYC REST ERCC6L TAF1 PIN4 NONO OGT ZMYM3 ENSG00000229601 RPS26P11 LOC392489 GC0XM072223
GH0XJ072271 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 45.2 -35.9 -35858 6 HDGF SMAD1 ARNT ARID4B SIN3A FEZF1 DMAP1 ZNF2 YY1 POLR2B RPS4X TAF1 NONO LOC100420758 ERCC6L OGT RTL5 LOC392489 ENSG00000229601 TOMM20P4
GH0XJ071530 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 21 +705.3 705302 5.7 FEZF1 DMAP1 IRF4 YY1 ZNF213 E2F8 ZNF143 SP3 NFYC ZC3H11A OGT TAF1 NONO MED12 ERCC6L GCNA LOC100420758 ENSG00000229601 RPS26P11 ZMYM3
GH0XJ071282 Promoter/Enhancer 2 EPDnew Ensembl ENCODE 13.3 +954.7 954738 4.2 PKNOX1 SMAD1 ARNT SIN3A FEZF1 DMAP1 ZNF2 YY1 POLR2B ZNF213 NONO MED12 OGT TAF1 ENSG00000229601 ERCC6L LOC100420758 LOC392489 RPS26P11 RPS4X
GH0XJ071250 Promoter/Enhancer 2 EPDnew Ensembl ENCODE 13.1 +985.3 985260 6.1 HDGF PKNOX1 ARNT NEUROD1 SIN3A FEZF1 ZNF2 YY1 ZNF766 ZNF213 ZMYM3 LOC105373247 TAF1 LOC100420758 MED12 NONO OGT ERCC6L ARR3 ENSG00000229601
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around ERCC6L on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the ERCC6L gene promoter:

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 (PubMed:17218258, PubMed:17671160, PubMed:28977671). Both proteins are mutually dependent on each other for correct subcellular localization (PubMed:17218258, PubMed:17671160). Interacts (via N-terminal TPR repeat) with BEND3 (via BEN domains 1 and 3); the interaction is direct (PubMed:28977671).
    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};

    Three dimensional structures from OCA and Proteopedia for ERCC6L Gene

neXtProt entry for ERCC6L Gene

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=576 and Lys55
  • Modification sites at PhosphoSitePlus

Other Protein References for ERCC6L Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for ERCC6L Gene

Domains & Families for ERCC6L Gene

Gene Families for ERCC6L Gene

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

Protein Domains for ERCC6L Gene

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 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 (PubMed:17218258). Acts as a tension sensor that associates with catenated DNA which is stretched under tension until it is resolved during anaphase (PubMed:17218258, PubMed:23973328). Functions as ATP-dependent DNA translocase (PubMed:23973328, PubMed:28977671). Can promote Holliday junction branch migration (in vitro) (PubMed:23973328).
UniProtKB/Swiss-Prot CatalyticActivity:
ATP + H(2)O = ADP + phosphate.

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:0015616 DNA translocase activity IDA 23973328
genes like me logo Genes that share ontologies with ERCC6L: view
genes like me logo Genes that share phenotypes with ERCC6L: view

Animal Model Products

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. Chromosome. 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. {ECO:0000269 PubMed:17218258, ECO:0000269 PubMed:17671160, ECO:0000269 PubMed:17956945, ECO:0000269 PubMed:17989990}.

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 BioSystems pathway for ERCC6L Gene
1 Cell Signaling Technology 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 Investigational Nutra Agonist, Activator, Full agonist, Antagonist, Potentiation, Pore Blocker 0

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

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
ADP
  • 5'-Adenylphosphoric acid
  • Adenosine 5'-diphosphate
  • ADENOSINE-5'-diphosphATE
  • H3ADP
  • 5'-Adenylphosphate
Full agonist, Agonist, Partial agonist, Antagonist, Gating inhibitor 58-64-0
genes like me logo Genes that share compounds with ERCC6L: view

Transcripts for ERCC6L Gene

mRNA/cDNA for ERCC6L Gene

(7) Additional mRNA sequences :
(2) REFSEQ mRNAs :
(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, 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 34 33
  • 99.79 (n)
OneToOne
cow
(Bos Taurus)
Mammalia ERCC6L 34 33
  • 88.38 (n)
OneToOne
dog
(Canis familiaris)
Mammalia ERCC6L 34 33
  • 87.51 (n)
OneToOne
rat
(Rattus norvegicus)
Mammalia Ercc6l 33
  • 81.11 (n)
mouse
(Mus musculus)
Mammalia Ercc6l 16 34 33
  • 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 34 33
  • 60.69 (n)
OneToOne
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)
Aminode:
Evolutionary constrained regions (ECRs) for ERCC6L: view image

Paralogs for ERCC6L Gene

Paralogs for ERCC6L Gene

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

  • ERC6L_HUMAN
  • B5MDQ0_HUMAN
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 Variation AA Info Type
rs1057518449 uncertain-significance, not specified 72,205,955(-) ACTTGGCCTCACTTG/ACTTG coding_sequence_variant, frameshift
rs1000307391 -- 72,231,737(-) A/G intron_variant
rs1000381258 -- 72,222,482(-) C/T intron_variant
rs1000648071 -- 72,215,339(-) A/G intron_variant
rs1000698302 -- 72,238,274(-) C/T 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)

Additional Variant Information 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

Additional Disease Information for 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 58
  2. A novel TPR-BEN domain interaction mediates PICH-BEND3 association. (PMID: 28977671) Pitchai GP … Hickson ID (Nucleic acids research 2017) 3 4 58
  3. PICH promotes sister chromatid disjunction and co-operates with topoisomerase II in mitosis. (PMID: 26643143) Nielsen CF … Hickson ID (Nature communications 2015) 2 3 58
  4. PICH: a DNA translocase specially adapted for processing anaphase bridge DNA. (PMID: 23973328) Biebricher A … Hickson ID (Molecular cell 2013) 3 4 58
  5. 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 58

Products for ERCC6L Gene

Sources for ERCC6L Gene

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