Ercc6l excision repair cross-complementing rodent repair deficiency complementation group 6 like [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Ercc6lprovided by MGI
Official Full Name: excision repair cross-complementing rodent repair deficiency complementation group 6 likeprovided by MGI
Primary source: MGI:MGI:2654144
See related: Ensembl:ENSMUSG00000051220 AllianceGenome:MGI:2654144
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: D330021P09Rik
Summary: Predicted to enable DNA translocase activity. Predicted to act upstream of or within cell division. Predicted to be located in kinetochore. Is expressed in several structures, including adrenal medulla; liver; lung; nervous system; and trunk. Orthologous to human ERCC6L (ERCC excision repair 6 like, spindle assembly checkpoint helicase). [provided by Alliance of Genome Resources, Apr 2022]
Expression: Biased expression in liver E14 (RPKM 4.8), CNS E11.5 (RPKM 4.2) and 10 other tissues See more
Orthologs: human all
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Genomic context

Location:: X D; X 45.16 cM

Exon count:: 2

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	X	NC_000086.8 (101186426..101200697, complement)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	X	NC_000086.7 (102142820..102157091, complement)

Chromosome X - NC_000086.8 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: Mouse ENCODE transcriptome data
Description: RNA profiling data sets generated by the Mouse ENCODE project.
BioProject: PRJNA66167
Publication: PMID 25409824
Analysis date: n/a

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Ercc6l is essential to preserve chromosomal integrity during embryonic development.
Title: Loss of PICH Results in Chromosomal Instability, p53 Activation, and Embryonic Lethality.

Submit: New GeneRIF Correction

Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Targeted (2) 1 citation
Endonuclease-mediated (1) 1 citation

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

RH125907 (e-PCR)
- UniSTS:162629

px-50g7 (e-PCR)
- UniSTS:257891

Ercc6l (e-PCR), detects polymorphism
- UniSTS:497275

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables ATP binding	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	ISO Inferred from Sequence Orthology more info
enables helicase activity	IEA Inferred from Electronic Annotation more info
enables hydrolase activity	IEA Inferred from Electronic Annotation more info
enables nucleotide binding	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
acts_upstream_of_or_within cell cycle	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within cell division	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
located_in chromosome	IEA Inferred from Electronic Annotation more info
located_in chromosome, centromeric region	IEA Inferred from Electronic Annotation more info
located_in kinetochore	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: DNA excision repair protein ERCC-6-like

Names: ATP-dependent helicase ERCC6-like; SNF2/RAD54 family protein; excision repair cross-complementing rodent repair deficiency complementation group 6 - like

NP_666347.2

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.

mRNA and Protein(s)

NM_146235.3 → NP_666347.2 DNA excision repair protein ERCC-6-like

See identical proteins and their annotated locations for NP_666347.2

Status: VALIDATED

Source sequence(s)

AK029015, AL807784

Consensus CDS

CCDS30321.1

UniProtKB/Swiss-Prot

Q8BGN1, Q8BHK9, Q8BRC9, Q8CE49

Related

ENSMUSP00000050592.3, ENSMUST00000056904.3

Conserved Domains (3) summary

cd00046
Location:117 → 260

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:100 → 418

SNF2_N; SNF2 family N-terminal domain

pfam00271
Location:462 → 577

Helicase_C; Helicase conserved C-terminal domain