Homo sapiens Protein: ORC6
Summary
InnateDB Protein IDBP-29345.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol ORC6
Protein Name origin recognition complex, subunit 6
Synonyms ORC6L;
Species Homo sapiens
Ensembl Protein ENSP00000219097
InnateDB Gene IDBG-29343 (ORC6)
Protein Structure
UniProt Annotation
Function Component of the origin recognition complex (ORC) that binds origins of replication. DNA-binding is ATP-dependent. The specific DNA sequences that define origins of replication have not been identified yet. ORC is required to assemble the pre- replication complex necessary to initiate DNA replication. Does not bind histone H3 and H4 trimethylation marks H3K9me3, H3K27me3 and H4K20me3. {ECO:0000269PubMed:22427655}.
Subcellular Localization Nucleus.
Disease Associations Meier-Gorlin syndrome 3 (MGORS3) [MIM:613803]: A syndrome characterized by bilateral microtia, aplasia/hypoplasia of the patellae, and severe intrauterine and postnatal growth retardation with short stature and poor weight gain. Additional clinical findings include anomalies of cranial sutures, microcephaly, apparently low-set and simple ears, microstomia, full lips, highly arched or cleft palate, micrognathia, genitourinary tract anomalies, and various skeletal anomalies. While almost all cases have primordial dwarfism with substantial prenatal and postnatal growth retardation, not all cases have microcephaly, and microtia and absent/hypoplastic patella are absent in some. Despite the presence of microcephaly, intellect is usually normal. {ECO:0000269PubMed:21358632}. Note=The disease is caused by mutations affecting the gene represented in this entry.
Tissue Specificity
Comments
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 29 experimentally validated interaction(s) in this database.
They are also associated with 7 interaction(s) predicted by orthology.
Experimentally validated
Total 29 [view]
Protein-Protein 27 [view]
Protein-DNA 2 [view]
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Predicted by orthology
Total 7 [view]
Gene Ontology

Molecular Function
Accession GO Term
GO:0003677 DNA binding
GO:0005515 protein binding
Biological Process
GO:0000082 G1/S transition of mitotic cell cycle
GO:0000278 mitotic cell cycle
GO:0006260 DNA replication
GO:0006261 DNA-dependent DNA replication
Cellular Component
GO:0000808 origin recognition complex
GO:0005654 nucleoplasm
GO:0005664 nuclear origin of replication recognition complex
GO:0016020 membrane
Protein Structure and Domains
PDB ID
InterPro IPR008721 Origin recognition complex, subunit 6
PFAM PF05460
PRINTS
PIRSF
SMART
TIGRFAMs
Post-translational Modifications
Modification
Cross-References
SwissProt Q9Y5N6
PhosphoSite PhosphoSite-Q9Y5N6
TrEMBL Q9H806
UniProt Splice Variant
Entrez Gene 23594
UniGene Hs.630242
RefSeq NP_055136
HUGO HGNC:17151
OMIM 607213
CCDS CCDS10722
HPRD 06237
IMGT
EMBL AC007225 AF139658 AK024019 AK024077 BC039032 BC063565 CH471092
GenPept AAD32666 AAH39032 AAH63565 BAB14817 BAG51251 EAW82685 EAW82686