InnateDB Protein
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IDBP-29345.6
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Last Modified
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2014-10-13 [Report errors or provide feedback]
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Gene Symbol
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ORC6
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Protein Name
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origin recognition complex, subunit 6
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Synonyms
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ORC6L;
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Species
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Homo sapiens
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Ensembl Protein
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ENSP00000219097
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InnateDB Gene
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IDBG-29343 (ORC6)
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Protein Structure
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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}.
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Subcellular Localization |
Nucleus.
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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.
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Tissue Specificity |
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Comments |
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Number of Interactions
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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]
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Protein-Protein |
27
[view]
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Protein-DNA |
2
[view]
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Protein-RNA |
0
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DNA-DNA |
0
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RNA-RNA |
0
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DNA-RNA |
0
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Predicted by orthology |
Total |
7 [view]
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Molecular Function |
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Biological Process |
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Cellular Component |
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PDB ID |
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InterPro |
IPR008721
Origin recognition complex, subunit 6
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PFAM |
PF05460
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PRINTS |
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PIRSF |
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SMART |
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TIGRFAMs |
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Modification |
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SwissProt |
Q9Y5N6
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PhosphoSite |
PhosphoSite-Q9Y5N6
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TrEMBL |
Q9H806
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UniProt Splice Variant |
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Entrez Gene |
23594
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UniGene |
Hs.630242
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RefSeq |
NP_055136
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HUGO |
HGNC:17151
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OMIM |
607213
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CCDS |
CCDS10722
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HPRD |
06237
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IMGT |
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EMBL |
AC007225
AF139658
AK024019
AK024077
BC039032
BC063565
CH471092
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GenPept |
AAD32666
AAH39032
AAH63565
BAB14817
BAG51251
EAW82685
EAW82686
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