Mus musculus Protein: Ercc6l | |||||||||||||||||||||||
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Summary | |||||||||||||||||||||||
InnateDB Protein | IDBP-164908.6 | ||||||||||||||||||||||
Last Modified | 2014-10-13 [Report errors or provide feedback] | ||||||||||||||||||||||
Gene Symbol | Ercc6l | ||||||||||||||||||||||
Protein Name | excision repair cross-complementing rodent repair deficiency complementation group 6 - like | ||||||||||||||||||||||
Synonyms | |||||||||||||||||||||||
Species | Mus musculus | ||||||||||||||||||||||
Ensembl Protein | ENSMUSP00000050592 | ||||||||||||||||||||||
InnateDB Gene | IDBG-164906 (Ercc6l) | ||||||||||||||||||||||
Protein Structure |
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UniProt Annotation | |||||||||||||||||||||||
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 (By similarity). {ECO:0000250}. | ||||||||||||||||||||||
Subcellular Localization | Chromosome, centromere {ECO:0000250}. Chromosome, centromere, kinetochore {ECO:0000250}. 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 (By similarity). {ECO:0000250}. | ||||||||||||||||||||||
Disease Associations | |||||||||||||||||||||||
Tissue Specificity | Expressed mainly in the neural tube and heart of E10.5 embryo. Significantly down-regulated after alcohol exposure in embryonic brain and heart, but not in embryonic kidney, liver, or lung. {ECO:0000269PubMed:15917148}. | ||||||||||||||||||||||
Comments | |||||||||||||||||||||||
Interactions | |||||||||||||||||||||||
Number of Interactions |
This gene and/or its encoded proteins are associated with 8 experimentally validated interaction(s) in this database.
They are also associated with 7 interaction(s) predicted by orthology.
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Gene Ontology | |||||||||||||||||||||||
Molecular Function |
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Biological Process |
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Cellular Component |
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Protein Structure and Domains | |||||||||||||||||||||||
PDB ID | MGI:2654144 | ||||||||||||||||||||||
InterPro |
IPR000330
SNF2-related IPR001650 Helicase, C-terminal IPR006935 Helicase/UvrB domain IPR011545 DNA/RNA helicase, DEAD/DEAH box type, N-terminal IPR014001 Helicase, superfamily 1/2, ATP-binding domain IPR021006 Histone deacetylase complex, subunit 2/3 IPR027417 P-loop containing nucleoside triphosphate hydrolase |
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PFAM |
PF00176
PF00271 PF04851 PF00270 PF11496 |
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PRINTS | |||||||||||||||||||||||
PIRSF | |||||||||||||||||||||||
SMART |
SM00490
SM00487 |
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TIGRFAMs | |||||||||||||||||||||||
Post-translational Modifications | |||||||||||||||||||||||
Modification | |||||||||||||||||||||||
Cross-References | |||||||||||||||||||||||
SwissProt | Q8BHK9 | ||||||||||||||||||||||
PhosphoSite | PhosphoSite-Q8BHK9 | ||||||||||||||||||||||
TrEMBL | Q8C4L5 | ||||||||||||||||||||||
UniProt Splice Variant | |||||||||||||||||||||||
Entrez Gene | 236930 | ||||||||||||||||||||||
UniGene | Mm.479383 | ||||||||||||||||||||||
RefSeq | NP_666347 | ||||||||||||||||||||||
MGI ID | |||||||||||||||||||||||
MGI Symbol | Ercc6l | ||||||||||||||||||||||
OMIM | |||||||||||||||||||||||
CCDS | CCDS30321 | ||||||||||||||||||||||
HPRD | |||||||||||||||||||||||
IMGT | |||||||||||||||||||||||
EMBL | AK029015 AK045113 AK081756 AK084617 AK084618 AL807784 AY172688 BC037660 | ||||||||||||||||||||||
GenPept | AAH37660 AAN87172 BAC26244 BAC32227 BAC38321 BAC39230 BAC39231 CAM24634 | ||||||||||||||||||||||