Free for academic non-profit institutions. Other users need a Commercial license

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 61
  • RAD26L 3

External Ids for ERCC6L Gene

Previous GeneCards Identifiers for ERCC6L Gene

  • GC0XM071342
  • GC0XM071343
  • GC0XM071424
  • GC0XM065178

Summaries for ERCC6L Gene

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 PLK1 signaling events and Mitotic Metaphase and Anaphase. 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.

No data available for Entrez Gene Summary , 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
GH0XG072272 1.1 ENCODE 20.5 -35.9 -35859 6.0 HDGF ARNT CREB3L1 WRNIP1 ARID4B SIN3A FEZF1 DMAP1 ZNF2 YY1 RTL5 OGT LOC100420758 ERCC6L NAP1L2 PIN4 RPS4X TOMM20P4 LOC392489 NHSL2
GH0XG071530 1.4 ENCODE dbSUPER 10.1 +705.8 705778 4.8 CREB3L1 FEZF1 DMAP1 YY1 ZNF143 SP3 NFYC TBX21 ZNF610 NBN TAF1 ERCC6L SNX12 RTL5 OGT GCNA
GH0XG072180 1.1 ENCODE 11.7 +57.4 57443 2.6 ARNT SIN3A FEZF1 ZNF2 YY1 FOS ZNF263 SP3 NFYC JUNB ERCC6L PIN4 RN7SL388P
GH0XG072238 1 ENCODE 10.9 +0.1 116 1.4 ATF1 WRNIP1 ARID4B SIN3A ZNF48 SP3 GTF2B NFYC REST ZNF592 PIN4 ERCC6L GC0XM072223
GH0XG072201 0.8 Ensembl ENCODE 11.9 +36.7 36736 2.1 ZNF121 JUN FOS ZBTB33 PIN4 ERCC6L RN7SL388P 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 ATF1 WRNIP1 ARID4B SIN3A ZNF48 GTF2B NFYC REST ZNF592 SMARCA4

Genomic Location for ERCC6L Gene

Chromosome:
X
Start:
72,204,657 bp from pter
End:
72,239,047 bp from pter
Size:
34,391 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. 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 Lys55 and Lys576
  • Modification sites at PhosphoSitePlus

Other Protein References for ERCC6L Gene

ENSEMBL proteins:
REFSEQ proteins:

Domains & Families 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

No data available for Gene Families for ERCC6L Gene

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

Animal Model Products

CRISPR Products

Inhibitory RNA Products

Clone Products

No data available for 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

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:0007067 mitotic nuclear division 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
Phosphoric acid Approved Pharma 0
Water Approved Pharma 0
Adenosine triphosphate Approved Nutra 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:

CRISPR Products

Inhibitory RNA Products

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

Primer Products

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 35
  • 99.79 (n)
cow
(Bos Taurus)
Mammalia ERCC6L 34 35
  • 88.38 (n)
dog
(Canis familiaris)
Mammalia ERCC6L 34 35
  • 87.51 (n)
rat
(Rattus norvegicus)
Mammalia Ercc6l 34
  • 81.11 (n)
mouse
(Mus musculus)
Mammalia Ercc6l 34 16 35
  • 80.97 (n)
oppossum
(Monodelphis domestica)
Mammalia ERCC6L 35
  • 58 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia ERCC6L 35
  • 56 (a)
OneToOne
chicken
(Gallus gallus)
Aves ERCC6L 34 35
  • 60.69 (n)
lizard
(Anolis carolinensis)
Reptilia -- 35
  • 64 (a)
OneToMany
-- 35
  • 62 (a)
OneToMany
-- 35
  • 51 (a)
OneToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia ercc6l 34
  • 59.49 (n)
zebrafish
(Danio rerio)
Actinopterygii ercc6l 35
  • 39 (a)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea csb-1 35
  • 18 (a)
ManyToMany
F53H4.6 35
  • 15 (a)
ManyToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes RAD26 35
  • 19 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 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 E.A. (Cell 2007) 2 3 4 64
  2. PICH promotes sister chromatid disjunction and co-operates with topoisomerase II in mitosis. (PMID: 26643143) Nielsen C.F. … Hickson I.D. (Nat Commun 2015) 2 3 64
  3. Depletion of topoisomerase IIalpha leads to shortening of the metaphase interkinetochore distance and abnormal persistence of PICH- coated anaphase threads. (PMID: 17956945) Spence J.M. … Farr C.J. (J. Cell Sci. 2007) 3 4 64
  4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4 64
  5. Temporal proteomics of NGF-TrkA signaling identifies an inhibitory role for the E3 ligase Cbl-b in neuroblastoma cell differentiation. (PMID: 25921289) Emdal K.B. … Olsen J.V. (Sci Signal 2015) 3 64

Products for ERCC6L Gene

Sources for ERCC6L Gene

Content
Loading form....