InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: ORC4

Summary

InnateDB Protein

IDBP-71782.6

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

ORC4

Protein Name

origin recognition complex, subunit 4

Synonyms

ORC4L; ORC4P;

Species

Homo sapiens

Ensembl Protein

ENSP00000264169

InnateDB Gene

IDBG-71780 (ORC4)

Protein Structure

UniProt Annotation

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. Binds histone H3 and H4 trimethylation marks H3K9me3, H3K27me3 and H4K20me3. {ECO:0000269PubMed:22427655}.

Subcellular Localization

Nucleus.

Disease Associations

Meier-Gorlin syndrome 2 (MGORS2) [MIM:613800]: 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}. 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 39 experimentally validated interaction(s) in this database.

Experimentally validated
Total	39 [view]
Protein-Protein	37 [view]
Protein-DNA	2 [view]
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Gene Ontology

Molecular Function

Accession	GO Term
GO:0000166	nucleotide binding
GO:0003677	DNA binding
GO:0003688	DNA replication origin 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: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

Protein Structure and Domains

PDB ID

InterPro

IPR003593 AAA+ ATPase domain
IPR003959 ATPase, AAA-type, core
IPR011579 ATPase domain, prokaryote
IPR016527 Origin recognition complex, subunit 4
IPR027417 P-loop containing nucleoside triphosphate hydrolase

PFAM

PF00004
PF07724
PF13304
PF01637

PRINTS

PIRSF

PIRSF007858

SMART

SM00382

TIGRFAMs

Post-translational Modifications

Modification

Cross-References

SwissProt