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

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; AllianceGenome:HGNC:20794
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: mouse all
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Genomic context

Location:: Xq13.1

Exon count:: 3

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	X	NC_000023.11 (72204665..72239027, complement)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	X	NC_060947.1 (70637554..70671929, complement)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	X	NC_000023.10 (71424515..71458877, complement)

Chromosome X - NC_000023.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

ERCC6L facilitates the onset of mammary neoplasia and promotes the high malignance of breast cancer by accelerating the cell cycle.
Title: ERCC6L facilitates the onset of mammary neoplasia and promotes the high malignance of breast cancer by accelerating the cell cycle.
A pan-cancer analysis of the oncogenic role of ERCC6L.
Title: A pan-cancer analysis of the oncogenic role of ERCC6L.
Overexpression of ERCC6L correlates with poor prognosis and confers malignant phenotypes of lung adenocarcinoma.
Title: Overexpression of ERCC6L correlates with poor prognosis and confers malignant phenotypes of lung adenocarcinoma.
ERCC6L is a biomarker and therapeutic target for non-small cell lung adenocarcinoma.
Title: ERCC6L is a biomarker and therapeutic target for non-small cell lung adenocarcinoma.
ERCC6L promotes cell growth and metastasis in gastric cancer through activating NF-kappaB signaling.
Title: ERCC6L promotes cell growth and metastasis in gastric cancer through activating NF-κB signaling.
Development and validation of hub genes for lymph node metastasis in patients with prostate cancer.
Title: Development and validation of hub genes for lymph node metastasis in patients with prostate cancer.
ERCC6L promotes the progression of hepatocellular carcinoma through activating PI3K/AKT and NF-kappaB signaling pathway.
Title: ERCC6L promotes the progression of hepatocellular carcinoma through activating PI3K/AKT and NF-κB signaling pathway.
The ZATT-TOP2A-PICH Axis Drives Extensive Replication Fork Reversal to Promote Genome Stability.
Title: The ZATT-TOP2A-PICH Axis Drives Extensive Replication Fork Reversal to Promote Genome Stability.
the present study provides preliminary evidence of the promoting effect of ERCC6L on the cell viability of RCC in vitro and in vivo. Further studies of the mechanisms underlying the regulation of ERCC6L may provide novel therapeutic targets in RCC.
Title: ERCC6L that is up-regulated in high grade of renal cell carcinoma enhances cell viability in vitro and promotes tumor growth in vivo potentially through modulating MAPK signalling pathway.
The study shows the dependency of triple-negative breast cancer cells on PICH for faithful chromosome segregation.
Title: Loss of PICH promotes chromosome instability and cell death in triple-negative breast cancer.

Submit: New GeneRIF Correction See all GeneRIFs (27)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

G59402 (e-PCR)
- UniSTS:136714

DXS6732 (e-PCR)
- UniSTS:2324

RH98807 (e-PCR)
- UniSTS:87415

AF020151 (e-PCR)
- UniSTS:22237

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables ATP binding	IEA Inferred from Electronic Annotation more info
enables ATP hydrolysis activity	IEA Inferred from Electronic Annotation more info
enables ATP-dependent chromatin remodeler activity	IEA Inferred from Electronic Annotation more info
enables DNA binding	IEA Inferred from Electronic Annotation more info
enables DNA translocase activity	IBA Inferred from Biological aspect of Ancestor more info
enables DNA translocase activity	IDA Inferred from Direct Assay more info	PubMed
enables helicase activity	IEA Inferred from Electronic Annotation more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in cell division	IEA Inferred from Electronic Annotation more info
involved_in chromatin remodeling	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
located_in cytosol	TAS Traceable Author Statement more info
located_in kinetochore	IEA Inferred from Electronic Annotation more info
located_in membrane	HDA more info	PubMed

General protein information

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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

EC 3.6.4.12

NP_060139.2

EC 3.6.4.12

NCBI Reference Sequences (RefSeq)

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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

NG_054897.1 RefSeqGene

Range

4982..39344

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001009954.3 → NP_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

UniProtKB/TrEMBL

B5MDQ0

Related

ENSP00000362761.1, ENST00000373657.2

Conserved Domains (1) summary

COG0553
Location:1 → 508

HepA; Superfamily II DNA or RNA helicase, SNF2 family [Transcription, Replication, recombination and repair]
NM_017669.4 → NP_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, Q8NCI1, Q96H93, Q9NXQ8

Related

ENSP00000334675.3, ENST00000334463.4

Conserved Domains (2) summary

COG0553
Location:23 → 631

HepA; Superfamily II DNA or RNA helicase, SNF2 family [Transcription, Replication, recombination and repair]

cd18001
Location:96 → 328

DEXHc_ERCC6L; DEXH-box helicase domain of ERCC6L