Homo sapiens Protein: LRWD1 | |||||||||||||||||||
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Summary | |||||||||||||||||||
InnateDB Protein | IDBP-33611.6 | ||||||||||||||||||
Last Modified | 2014-10-13 [Report errors or provide feedback] | ||||||||||||||||||
Gene Symbol | LRWD1 | ||||||||||||||||||
Protein Name | leucine-rich repeats and WD repeat domain containing 1 | ||||||||||||||||||
Synonyms | |||||||||||||||||||
Species | Homo sapiens | ||||||||||||||||||
Ensembl Protein | ENSP00000292616 | ||||||||||||||||||
InnateDB Gene | IDBG-33609 (LRWD1) | ||||||||||||||||||
Protein Structure | |||||||||||||||||||
UniProt Annotation | |||||||||||||||||||
Function | Required for G1/S transition. Recruits and stabilizes the origin recognition complex (ORC) onto chromatin during G1 to establish pre-replication complex (preRC) and to heterochromatic sites in post-replicated cells. Binds a combination of DNA and histone methylation repressive marks on heterochromatin. Binds histone H3 and H4 trimethylation marks H3K9me3, H3K20me3 and H4K27me3 in a cooperative manner with DNA methylation. Required for silencing of major satellite repeats. May be important ORC2, ORC3 and ORC4 stability. {ECO:0000269PubMed:20850016, ECO:0000269PubMed:20932478, ECO:0000269PubMed:21029866, ECO:0000269PubMed:22427655, ECO:0000269PubMed:22645314}. | ||||||||||||||||||
Subcellular Localization | Nucleus. Chromosome, centromere. Chromosome, telomere. Cytoplasm, cytoskeleton, microtubule organizing center, centrosome {ECO:0000250}. Note=Localizes to heterochromatin during G1 phase. Restricted to centromeres or telomeres as cells progress though S phase. When cells enter mitosis, relocalizes to centromeres. Recruitment to pericentric heterochromatin largely depends on the presence of H3K9me3. | ||||||||||||||||||
Disease Associations | |||||||||||||||||||
Tissue Specificity | Testis-specific. Drastically down-regulated in testis from patients with Sertoli cell-only syndrome (SCOS). {ECO:0000269PubMed:17074343}. | ||||||||||||||||||
Comments | |||||||||||||||||||
Interactions | |||||||||||||||||||
Number of Interactions |
This gene and/or its encoded proteins are associated with 13 experimentally validated interaction(s) in this database.
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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 | |||||||||||||||||||
InterPro |
IPR001611
Leucine-rich repeat IPR001680 WD40 repeat IPR003591 Leucine-rich repeat, typical subtype IPR017986 WD40-repeat-containing domain |
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PFAM |
PF00560
PF13504 PF13855 PF00400 |
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PRINTS | |||||||||||||||||||
PIRSF | |||||||||||||||||||
SMART |
SM00320
SM00369 |
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TIGRFAMs | |||||||||||||||||||
Post-translational Modifications | |||||||||||||||||||
Modification | |||||||||||||||||||
Cross-References | |||||||||||||||||||
SwissProt | Q9UFC0 | ||||||||||||||||||
PhosphoSite | PhosphoSite-Q9UFC0 | ||||||||||||||||||
TrEMBL | |||||||||||||||||||
UniProt Splice Variant | |||||||||||||||||||
Entrez Gene | 222229 | ||||||||||||||||||
UniGene | Hs.274135 | ||||||||||||||||||
RefSeq | NP_690852 | ||||||||||||||||||
HUGO | HGNC:21769 | ||||||||||||||||||
OMIM | 615167 | ||||||||||||||||||
CCDS | CCDS34715 | ||||||||||||||||||
HPRD | 10904 | ||||||||||||||||||
IMGT | |||||||||||||||||||
EMBL | AC093668 AK290967 AK313771 AL133057 BC009436 BC018769 BC030547 CH471197 | ||||||||||||||||||
GenPept | AAH09436 AAH18769 AAH30547 BAF83656 BAG36509 CAB61382 EAW50250 | ||||||||||||||||||