Format

Send to:

Choose Destination

ERCC6L ERCC excision repair 6 like, spindle assembly checkpoint helicase [ Homo sapiens (human) ]

Gene ID: 54821, updated on 17-Jun-2019

Summary

Official Symbol
ERCC6Lprovided by HGNC
Official Full Name
ERCC excision repair 6 like, spindle assembly checkpoint helicaseprovided by HGNC
Primary source
HGNC:HGNC:20794
See related
Ensembl:ENSG00000186871 MIM:300687
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
PICH; RAD26L
Summary
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]
Expression
Broad expression in lymph node (RPKM 1.5), bone marrow (RPKM 1.3) and 18 other tissues See more
Orthologs

Genomic context

See ERCC6L in Genome Data Viewer
Location:
Xq13.1
Exon count:
3
Annotation release Status Assembly Chr Location
109.20190607 current GRCh38.p13 (GCF_000001405.39) X NC_000023.11 (72204665..72239027, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) X NC_000023.10 (71424507..71458877, complement)

Chromosome X - NC_000023.11Genomic Context describing neighboring genes Neighboring gene NHS like 2 Neighboring gene TPT1-like protein Neighboring gene RNA, 7SL, cytoplasmic 388, pseudogene Neighboring gene peptidylprolyl cis/trans isomerase, NIMA-interacting 4 Neighboring gene uncharacterized LOC105373250 Neighboring gene ribosomal protein S4 X-linked Neighboring gene Cbp/p300 interacting transactivator with Glu/Asp rich carboxy-terminal domain 1

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Pathways from BioSystems

  • Cell Cycle, organism-specific biosystem (from REACTOME)
    Cell Cycle, organism-specific biosystem
    Cell Cycle
  • Cell Cycle, Mitotic, organism-specific biosystem (from REACTOME)
    Cell Cycle, Mitotic, organism-specific biosystemThe replication of the genome and the subsequent segregation of chromosomes into daughter cells are controlled by a series of events collectively known as the cell cycle. DNA replication is carried o...
  • M Phase, organism-specific biosystem (from REACTOME)
    M Phase, organism-specific biosystemMitosis, or the M phase, involves nuclear division and cytokinesis, where two identical daughter cells are produced. Mitosis involves prophase, prometaphase, metaphase, anaphase, and telophase. Fin...
  • Mitotic Anaphase, organism-specific biosystem (from REACTOME)
    Mitotic Anaphase, organism-specific biosystemIn anaphase, the paired chromosomes separate at the centromeres, and move to the opposite sides of the cell. The movement of the chromosomes is facilitated by a combination of kinetochore movement al...
  • Mitotic Metaphase and Anaphase, organism-specific biosystem (from REACTOME)
    Mitotic Metaphase and Anaphase, organism-specific biosystemMetaphase is marked by the formation of the metaphase plate. The metaphase plate is formed when the spindle fibers align the chromosomes along the middle of the cell. Such an organization helps to ...
  • Mitotic Prometaphase, organism-specific biosystem (from REACTOME)
    Mitotic Prometaphase, organism-specific biosystemThe dissolution of the nuclear membrane marks the beginning of the prometaphase. Kinetochores are created when proteins attach to the centromeres. Microtubules then attach at the kinetochores, and th...
  • PLK1 signaling events, organism-specific biosystem (from Pathway Interaction Database)
    PLK1 signaling events, organism-specific biosystem
    PLK1 signaling events
  • RHO GTPase Effectors, organism-specific biosystem (from REACTOME)
    RHO GTPase Effectors, organism-specific biosystemRHO GTPases regulate cell behaviour by activating a number of downstream effectors that regulate cytoskeletal organization, intracellular trafficking and transcription (reviewed by Sahai and Marshall...
  • RHO GTPases Activate Formins, organism-specific biosystem (from REACTOME)
    RHO GTPases Activate Formins, organism-specific biosystemFormins are a family of proteins with 15 members in mammals, organized into 8 subfamilies. Formins are involved in the regulation of actin cytoskeleton. Many but not all formin family members are act...
  • Resolution of Sister Chromatid Cohesion, organism-specific biosystem (from REACTOME)
    Resolution of Sister Chromatid Cohesion, organism-specific biosystemThe resolution of sister chromatids in mitotic prometaphase involves removal of cohesin complexes from chromosomal arms, with preservation of cohesion at centromeres (Losada et al. 1998, Hauf et al. ...
  • Separation of Sister Chromatids, organism-specific biosystem (from REACTOME)
    Separation of Sister Chromatids, organism-specific biosystemWhile sister chromatids resolve in prometaphase, separating along chromosomal arms, the cohesion of sister centromeres persists until anaphase. At the anaphase onset, the anaphase promoting complex/c...
  • Signal Transduction, organism-specific biosystem (from REACTOME)
    Signal Transduction, organism-specific biosystemSignal transduction is a process in which extracellular signals elicit changes in cell state and activity. Transmembrane receptors sense changes in the cellular environment by binding ligands, such a...
  • Signaling by Rho GTPases, organism-specific biosystem (from REACTOME)
    Signaling by Rho GTPases, organism-specific biosystemThe Rho family of small guanine nucleotide binding proteins is one of five generally recognized branches of the Ras superfamily. Like most Ras superfamily members, typical Rho proteins function as bi...

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ20105, MGC131695

Gene Ontology Provided by GOA

Function Evidence Code Pubs
ATP binding IEA
Inferred from Electronic Annotation
more info
 
DNA binding IEA
Inferred from Electronic Annotation
more info
 
DNA helicase activity IEA
Inferred from Electronic Annotation
more info
 
DNA translocase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
DNA translocase activity IDA
Inferred from Direct Assay
more info
PubMed 
DNA-dependent ATPase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
DNA duplex unwinding IEA
Inferred from Electronic Annotation
more info
 
cell cycle IEA
Inferred from Electronic Annotation
more info
 
cell division IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
condensed chromosome kinetochore IEA
Inferred from Electronic Annotation
more info
 
cytosol TAS
Traceable Author Statement
more info
 
membrane HDA PubMed 

General protein information

Preferred Names
DNA excision repair protein ERCC-6-like
Names
ATP-dependent helicase ERCC6-like
Plk1-interacting checkpoint helicase
SNF2/RAD54 family protein
excision repair cross-complementation group 6 like
excision repair cross-complementing rodent repair deficiency complementation group 6 - like
excision repair cross-complementing rodent repair deficiency, complementation group 6-like
excision repair protein ERCC6-like
tumor antigen BJ-HCC-15
NP_001009954.1
NP_060139.2

NCBI Reference Sequences (RefSeq)

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_054897.1 RefSeqGene

    Range
    4962..39354
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001009954.3NP_001009954.1  DNA excision repair protein ERCC-6-like isoform b

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) differs in its 5' UTR, resulting in the use of a downstream start codon. Use of the 5'-most initiation codon, as used in variant 1, is associated with a truncated ORF that would render the transcript a candidate for nonsense-mediated decay (NMD). Leaky scanning results in translation initiation at the downstream start codon to encode an isoform (b) that has a shorter N-terminus, compared to isoform a.
    Source sequence(s)
    AK056494, BC111486
    Related
    ENSP00000362761.1, ENST00000373657.2
    Conserved Domains (1) summary
    COG0553
    Location:1508
    HepA; Superfamily II DNA or RNA helicase, SNF2 family [Transcription, Replication, recombination and repair]
  2. NM_017669.4NP_060139.2  DNA excision repair protein ERCC-6-like isoform a

    See identical proteins and their annotated locations for NP_060139.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) encodes the longer isoform (a)
    Source sequence(s)
    BC111486, DB067255
    Consensus CDS
    CCDS35329.1
    UniProtKB/Swiss-Prot
    Q2NKX8
    Related
    ENSP00000334675.3, ENST00000334463.4
    Conserved Domains (3) summary
    cd00046
    Location:116259
    DEXDc; DEAD-like helicases superfamily. A diverse family of proteins involved in ATP-dependent RNA or DNA unwinding. This domain contains the ATP-binding region.
    pfam00176
    Location:99417
    SNF2_N; SNF2 family N-terminal domain
    pfam00271
    Location:459574
    Helicase_C; Helicase conserved C-terminal domain

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000023.11 Reference GRCh38.p13 Primary Assembly

    Range
    72204665..72239027 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Support Center