InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: ORC1

Summary

InnateDB Protein

IDBP-98630.6

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

ENSP00000360623

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.

Experimentally validated
Total	46 [view]
Protein-Protein	40 [view]
Protein-DNA	6 [view]
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Predicted by orthology
Total	10 [view]

Gene Ontology

Molecular Function

Accession	GO Term
GO:0003677	DNA binding
GO:0003682	chromatin binding
GO:0005515	protein binding
GO:0005524	ATP binding
GO:0017111	nucleoside-triphosphatase activity

Biological Process

GO:0000082	G1/S transition of mitotic cell cycle
GO:0000083	regulation of transcription involved in G1/S transition of mitotic cell cycle
GO:0000278	mitotic cell cycle
GO:0006260	DNA replication
GO:0006270	DNA replication initiation

Cellular Component

GO:0000808	origin recognition complex
GO:0005634	nucleus
GO:0005654	nucleoplasm
GO:0005664	nuclear origin of replication recognition complex
GO:0005730	nucleolus
GO:0005737	cytoplasm
GO:0005829	cytosol
GO:0005886	plasma membrane

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

PFAM

PF01426
PF00004
PF07724
PF13304
PF09079
PF09848

PRINTS

PIRSF

SMART

SM00439
SM00382
SM01074

TIGRFAMs

Post-translational Modifications

Modification

Cross-References

SwissProt

Q13415