Homo sapiens Protein: ORC1 | |||||||||||||||||||||||
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Summary | |||||||||||||||||||||||
InnateDB Protein | IDBP-98632.6 | ||||||||||||||||||||||
Last Modified | 2014-10-13 [Report errors or provide feedback] | ||||||||||||||||||||||
Gene Symbol | ORC1 | ||||||||||||||||||||||
Protein Name | origin recognition complex, subunit 1 | ||||||||||||||||||||||
Synonyms | HSORC1; ORC1L; PARC1; | ||||||||||||||||||||||
Species | Homo sapiens | ||||||||||||||||||||||
Ensembl Protein | ENSP00000360621 | ||||||||||||||||||||||
InnateDB Gene | IDBG-98628 (ORC1) | ||||||||||||||||||||||
Protein Structure | |||||||||||||||||||||||
UniProt Annotation | |||||||||||||||||||||||
Function | Component of the origin recognition complex (ORC) that binds origins of replication. DNA-binding is ATP-dependent. The 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. | ||||||||||||||||||||||
Subcellular Localization | Nucleus. | ||||||||||||||||||||||
Disease Associations | Meier-Gorlin syndrome 1 (MGORS1) [MIM:224690]: 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:21358631, ECO:0000269PubMed:21358632, ECO:0000269PubMed:21358633}. 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 46 experimentally validated interaction(s) in this database.
They are also associated with 10 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 | |||||||||||||||||||||||
InterPro |
IPR001025
Bromo adjacent homology (BAH) domain IPR003593 AAA+ ATPase domain IPR003959 ATPase, AAA-type, core IPR015163 CDC6, C-terminal domain IPR018647 Domain of unknown function DUF2075 IPR027417 P-loop containing nucleoside triphosphate hydrolase |
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PFAM |
PF01426
PF00004 PF07724 PF13304 PF09079 PF09848 |
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PRINTS | |||||||||||||||||||||||
PIRSF | |||||||||||||||||||||||
SMART |
SM00439
SM00382 SM01074 |
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TIGRFAMs | |||||||||||||||||||||||
Post-translational Modifications | |||||||||||||||||||||||
Modification | |||||||||||||||||||||||
Cross-References | |||||||||||||||||||||||
SwissProt | Q13415 | ||||||||||||||||||||||
PhosphoSite | PhosphoSite-Q13415 | ||||||||||||||||||||||
TrEMBL | |||||||||||||||||||||||
UniProt Splice Variant | |||||||||||||||||||||||
Entrez Gene | 4998 | ||||||||||||||||||||||
UniGene | Hs.17908 | ||||||||||||||||||||||
RefSeq | |||||||||||||||||||||||
HUGO | HGNC:8487 | ||||||||||||||||||||||
OMIM | 601902 | ||||||||||||||||||||||
CCDS | CCDS566 | ||||||||||||||||||||||
HPRD | 03544 | ||||||||||||||||||||||
IMGT | |||||||||||||||||||||||
EMBL | AL513218 CH471059 U40152 U43416 | ||||||||||||||||||||||
GenPept | AAA86260 AAC50325 CAI12288 EAX06783 EAX06784 | ||||||||||||||||||||||