ID:ORC4_HUMAN DESCRIPTION: RecName: Full=Origin recognition complex subunit 4; FUNCTION: Component of the origin recognition complex (ORC) that binds origins of replication. DNA-binding is ATP-dependent, however specific DNA sequences that define origins of replication have not been identified so far. ORC is required to assemble the pre-replication complex necessary to initiate DNA replication. SUBUNIT: ORC is composed of six subunits. In human, ORC is cell cycle-dependent regulated: it is sequentially assembled at the exit from anaphase of mitosis and disassembled as cells enter S phase. Interacts with DBF4 (By similarity). INTERACTION: Q13416:ORC2; NbExp=6; IntAct=EBI-374889, EBI-374957; Q9UBD5:ORC3; NbExp=12; IntAct=EBI-374889, EBI-374916; O43913:ORC5; NbExp=2; IntAct=EBI-374889, EBI-374928; SUBCELLULAR LOCATION: Nucleus. DISEASE: Defects in ORC4 are the cause of Meier-Gorlin syndrome type 2 (MGORS2) [MIM:613800]. MGORS2 is 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. SIMILARITY: Belongs to the ORC4 family. WEB RESOURCE: Name=NIEHS-SNPs; URL="http://egp.gs.washington.edu/data/orc4l/";
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
ModBase Predicted Comparative 3D Structure on O43929
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Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
BioCarta from NCI Cancer Genome Anatomy Project h_mcmPathway - CDK Regulation of DNA Replication
Reactome (by CSHL, EBI, and GO)
Protein O43929 (Reactome details) participates in the following event(s):
R-HSA-68610 Orc4 associates with Orc5:Orc3:Orc2:origin complexes R-HSA-68611 Orc1 associates with Orc4:Orc5:Orc3:Orc2:origin complexes R-HSA-68688 CDC6 association with ORC:origin complexes mediated by MCM8 R-HSA-113638 Association of Cyclin B/Cdk1 with replicative origin inhibits pre-RC formation R-HSA-176973 Association of MCM8 with ORC:origin complex R-HSA-68944 Orc1 is phosphorylated by cyclin A/CDK2 R-HSA-68615 Orc6 associates with Orc1:Orc4:Orc5:Orc3:Orc2:origin complexes, forming ORC:origin complexes R-HSA-68826 Free CDT1 associates with CDC6:ORC:origin complexes R-HSA-68849 Mcm2-7 associates with the Cdt1:CDC6:ORC:origin complex, forming the pre-replicative complex (preRC) R-HSA-68919 Mcm10 associates with the pre-replicative complex, stabilizing Mcm2-7 R-HSA-68918 CDK and DDK associate with the Mcm10:pre-replicative complex R-HSA-68940 Cdt1 is displaced from the pre-replicative complex. R-HSA-68917 Cdc45 associates with the pre-replicative complex at the origin R-HSA-68916 DNA Replication Factor A (RPA) associates with the pre-replicative complex at the origin R-HSA-176318 Loading of claspin onto DNA during replication origin firing R-HSA-176298 Activation of claspin R-HSA-68616 Assembly of the ORC complex at the origin of replication R-HSA-68689 CDC6 association with the ORC:origin complex R-HSA-113507 E2F-enabled inhibition of pre-replication complex formation R-HSA-68867 Assembly of the pre-replicative complex R-HSA-68949 Orc1 removal from chromatin R-HSA-68827 CDT1 association with the CDC6:ORC:origin complex R-HSA-113510 E2F mediated regulation of DNA replication R-HSA-69002 DNA Replication Pre-Initiation R-HSA-69052 Switching of origins to a post-replicative state R-HSA-69206 G1/S Transition R-HSA-68874 M/G1 Transition R-HSA-69239 Synthesis of DNA R-HSA-68962 Activation of the pre-replicative complex R-HSA-453279 Mitotic G1-G1/S phases R-HSA-69278 Cell Cycle (Mitotic) R-HSA-69306 DNA Replication R-HSA-69242 S Phase R-HSA-1640170 Cell Cycle R-HSA-176187 Activation of ATR in response to replication stress R-HSA-69481 G2/M Checkpoints R-HSA-69620 Cell Cycle Checkpoints
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Sequence and Links to Tools and Databases 
Common Gene Haplotype Alleles 
