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MGP002170

UniProt Annotations

Entry Information
Gene Nameorigin recognition complex, subunit 1
Protein EntryORC1_HUMAN
UniProt IDQ13415
SpeciesHuman
Comments
Comment typeDescription
Developmental StageExpression is cell-cycle regulated, it starts to accumulate in mid-G1 phase, reaches a peak at the G1/S boundary, and decreases to a basal level in S phase (at protein level). {ECO:0000269|PubMed:12909627}.
DiseaseMeier-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:0000269|PubMed:21358631, ECO:0000269|PubMed:21358632, ECO:0000269|PubMed:21358633}. Note=The disease is caused by mutations affecting the gene represented in this entry.
DomainThe BAH domain mediates binding to dimethylated histone H4 'Lys-20' (H4K20me2), which is enriched at replication origins. {ECO:0000250}.
FunctionComponent 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.
InteractionP03211:EBNA1 (xeno); NbExp=2; IntAct=EBI-374847, EBI-996522; Q13416:ORC2; NbExp=6; IntAct=EBI-374847, EBI-374957; Q9UBD5:ORC3; NbExp=12; IntAct=EBI-374847, EBI-374916; O43913:ORC5; NbExp=5; IntAct=EBI-374847, EBI-374928; Q13309:SKP2; NbExp=2; IntAct=EBI-374847, EBI-456291; Q15554:TERF2; NbExp=2; IntAct=EBI-374847, EBI-706637;
PtmPhosphorylated during mitosis. {ECO:0000269|PubMed:18669648, ECO:0000269|PubMed:20068231, ECO:0000269|PubMed:21406692, ECO:0000269|PubMed:22645314}.
SimilarityBelongs to the ORC1 family. {ECO:0000305}.
SimilarityContains 1 BAH domain. {ECO:0000255|PROSITE- ProRule:PRU00370}.
Subcellular LocationNucleus.
SubunitComponent of ORC, a complex composed of at least 6 subunits: ORC1, ORC2, ORC3, ORC4, ORC5 and ORC6. ORC is regulated in a cell-cycle dependent manner. It is sequentially assembled at the exit from anaphase of mitosis and disassembled as cells enter S phase. Interacts with CDC6 and KAT7/HBO1. Interacts with LRWD1 predominantly during the G1 phase and with less affinity during mitosis, when phosphorylated. {ECO:0000269|PubMed:10438470, ECO:0000269|PubMed:12909626, ECO:0000269|PubMed:22645314, ECO:0000269|PubMed:9566895}.
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