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 p... See more...

Aliases for ERCC6L Gene

Aliases for ERCC6L Gene

  • ERCC Excision Repair 6 Like, Spindle Assembly Checkpoint Helicase 2 3 5
  • PICH 2 3 4
  • Excision Repair Cross-Complementing Rodent Repair Deficiency, Complementation Group 6-Like 2 3
  • Excision Repair Cross-Complementation Group 6 Like 2 3
  • DNA Excision Repair Protein ERCC-6-Like 3 4
  • PLK1-Interacting Checkpoint Helicase 2 4
  • ATP-Dependent Helicase ERCC6-Like 3 4
  • Tumor Antigen BJ-HCC-15 3 4
  • RAD26L 2 3
  • Excision Repair Cross-Complementing Rodent Repair Deficiency Complementation Group 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
  • FLJ20105 2
  • EC 3.6.1 51
  • ERCC6L 5

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. Diseases associated with ERCC6L include Combined Malonic And Methylmalonic Aciduria and Klippel-Trenaunay-Weber Syndrome. Among its related pathways are Signaling by GPCR and Mitotic Prometaphase. Gene Ontology (GO) annotations related to this gene include nucleic acid binding and helicase activity. An important paralog of this gene is CHD9.

UniProtKB/Swiss-Prot Summary 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).

No data available for CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for ERCC6L Gene

Genomics for ERCC6L Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for ERCC6L Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around ERCC6L on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for ERCC6L

Top Transcription factor binding sites by QIAGEN in the ERCC6L gene promoter:
  • CBF(2)
  • CBF-A
  • CBF-B
  • CP1A
  • E47
  • NF-Y
  • NF-YA
  • NF-YB
  • S8
  • Tal-1

Genomic Locations for ERCC6L Gene

Latest Assembly
chrX:72,204,657-72,239,027
(GRCh38/hg38)
Size:
34,371 bases
Orientation:
Minus strand

Previous Assembly
chrX:71,424,515-71,458,877
(GRCh37/hg19 by Entrez Gene)
Size:
34,363 bases
Orientation:
Minus strand

chrX:71,424,510-71,458,897
(GRCh37/hg19 by Ensembl)
Size:
34,388 bases
Orientation:
Minus strand

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; Note=Truncated C-terminus.; Evidence={ECO:0000305}; Sequence=BAA90952.1; Type=Erroneous termination; Note=Truncated C-terminus.; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for ERCC6L Gene

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 Lys55 and Lys576
  • Modification sites at PhosphoSitePlus

Other Protein References 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

InterPro:
Blocks:
  • SNF2 related domain
ProtoNet:

Suggested Antigen Peptide Sequences for ERCC6L Gene

GenScript: Design optimal peptide antigens:
  • Tumor antigen BJ-HCC-15 (ERC6L_HUMAN)

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:
Reaction=ATP + H2O = ADP + H(+) + phosphate; Xref=Rhea:RHEA:13065, ChEBI:CHEBI:15377, ChEBI:CHEBI:15378, ChEBI:CHEBI:30616, ChEBI:CHEBI:43474, ChEBI:CHEBI:456216; EC=3.6.4.12; Evidence={ECO:0000269|PubMed:23973328, ECO:0000269|PubMed:28977671};.

Enzyme Numbers (IUBMB) for ERCC6L Gene

Phenotypes From GWAS Catalog for ERCC6L Gene

Gene Ontology (GO) - Molecular Function for ERCC6L Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000166 nucleotide binding IEA --
GO:0003677 DNA binding IEA --
GO:0003678 DNA helicase activity IEA --
GO:0004386 helicase activity IEA --
GO:0005515 protein binding IPI 20360068
genes like me logo Genes that share ontologies with ERCC6L: view
genes like me logo Genes that share phenotypes with ERCC6L: view

Animal Models for ERCC6L Gene

MGI Knock Outs for ERCC6L:

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ERCC6L

No data available for Human Phenotype Ontology , 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
cytoskeleton 3
plasma membrane 2
mitochondrion 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Centrosome (1)
  • Cytosol (1)
  • Nucleoplasm (1)
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:0032508 DNA duplex unwinding IEA --
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
Water Approved Pharma 0
Phosphate Experimental Pharma 0
ATP Investigational Nutra 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
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 :
11 NCBI additional mRNA sequence :
2 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ERCC6L

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

No ASD Table

Relevant External Links for ERCC6L Gene

GeneLoc Exon Structure for
ERCC6L

Expression for ERCC6L Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and 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



Transcriptomic regulation report from SPP (The Signaling Pathways Project) for ERCC6L

SOURCE GeneReport for Unigene cluster for ERCC6L Gene:

Hs.47558

Evidence on tissue expression from TISSUES for ERCC6L Gene

  • Intestine(4.3)
genes like me logo Genes that share expression patterns with ERCC6L: view

Primer products for research

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 30 31
  • 99.79 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia ERCC6L 30 31
  • 88.38 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia ERCC6L 30 31
  • 87.51 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Ercc6l 30
  • 81.11 (n)
Mouse
(Mus musculus)
Mammalia Ercc6l 30 17 31
  • 80.97 (n)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia ERCC6L 31
  • 58 (a)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia ERCC6L 31
  • 56 (a)
OneToOne
Chicken
(Gallus gallus)
Aves ERCC6L 30 31
  • 60.69 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia -- 31
  • 64 (a)
OneToMany
-- 31
  • 62 (a)
OneToMany
-- 31
  • 51 (a)
OneToMany
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia ercc6l 30
  • 59.49 (n)
Zebrafish
(Danio rerio)
Actinopterygii ercc6l 31
  • 39 (a)
OneToOne
Worm
(Caenorhabditis elegans)
Secernentea csb-1 31
  • 18 (a)
ManyToMany
F53H4.6 31
  • 15 (a)
ManyToMany
Baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes RAD26 31
  • 19 (a)
OneToMany
Sea Squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 48 (a)
OneToOne
Species where no ortholog for ERCC6L was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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 Vase (Ciona intestinalis)
  • 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

(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, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for ERCC6L Gene

SNP ID Clinical significance and condition Chr 0X pos Variation AA Info Type
rs1057518449 Uncertain Significance: not specified 72,205,954(-) AACTTGGCCTC/A
NM_017669.4(ERCC6L):c.2803_2812del (p.Glu935fs)
FRAMESHIFT_VARIANT,INTRON
rs140278755 Benign: not provided 72,208,498(-) C/T
NM_017669.4(ERCC6L):c.269G>A (p.Arg90Gln)
MISSENSE_VARIANT,FIVE_PRIME_UTR_VARIANT,INTRON
rs142549919 Benign: not provided 72,208,201(-) T/C
NM_017669.4(ERCC6L):c.566A>G (p.Asn189Ser)
MISSENSE_VARIANT,INTRON
rs7056605 Benign: not provided 72,208,269(-) C/T
NM_017669.4(ERCC6L):c.498G>A (p.Lys166=)
SYNONYMOUS_VARIANT,INTRON

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for ERCC6L Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

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

SNP Genotyping and Copy Number Assays for research

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

MalaCards: The human disease database

(3) MalaCards diseases for ERCC6L Gene - From: COP

- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for ERCC6L

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

No data available for 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
  2. A novel TPR-BEN domain interaction mediates PICH-BEND3 association. (PMID: 28977671) Pitchai GP … Hickson ID (Nucleic acids research 2017) 3 4
  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
  4. PICH: a DNA translocase specially adapted for processing anaphase bridge DNA. (PMID: 23973328) Biebricher A … Hickson ID (Molecular cell 2013) 3 4
  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

Products for ERCC6L Gene

Sources for ERCC6L Gene