1. Gene
  2. ORC4 - origin recognition complex subunit 4 Gene

ORC4 - origin recognition complex subunit 4 Gene

Homo sapiens

Also known as ORC4L; ORC4P

Gene ID: 5000 | Gene type: protein coding

About ORC4

Cytogenetic location: 2q23.1 Genomic coordinates (GRCh38): 2:147,930,396-148,021,551 (from NCBI)

This gene has 16 transcripts (splice variants), 211 orthologues and is associated with 3 phenotypes. Ubiquitous expression in brain (RPKM 7.5), skin (RPKM 6.5) and 25 other tissues.

Summary

The origin recognition complex (ORC) is a highly conserved six subunit protein complex essential for the initiation of the DNA replication in eukaryotic cells. Studies in yeast demonstrated that ORC binds specifically to origins of replication and serves as a platform for the assembly of additional initiation factors such as Cdc6 and Mcm proteins. This gene encodes a subunit of the ORC complex. Several alternatively spliced transcript variants, some of which encode the same protein, have been reported for this gene. [provided by RefSeq, Oct 2010]

ORC4 Products(8)

mRNA Protein Name
NM_001190879.3 NP_001177808.1 origin recognition complex subunit 4 isoform 1
NM_001190881.3 NP_001177810.1 origin recognition complex subunit 4 isoform 2
NM_001190882.3 NP_001177811.1 origin recognition complex subunit 4 isoform 3
NM_001374270.1 NP_001361199.1 origin recognition complex subunit 4 isoform 1
NM_001374272.1 NP_001361201.1 origin recognition complex subunit 4 isoform 2
NM_002552.5 NP_002543.2 origin recognition complex subunit 4 isoform 1
NM_181741.4 NP_859525.1 origin recognition complex subunit 4 isoform 1
NM_181742.4 NP_859526.1 origin recognition complex subunit 4 isoform 1
Gene Ontology
  • Molecular Function
  • Biological Process
  • Cellular Component
Molecular Function GO Annotation Evidence Reference Source
enables DNA replication origin binding IMP
IMP: Inferred from mutant phenotype
9353276 GOA
enables nucleotide binding IDA
IDA: Inferred from direct assay
9353276 GOA
enables protein binding IPI
IPI: Inferred from physical interaction
15232106 GOA
Biological Process GO Annotation Evidence Reference Source
involved in DNA replication initiation IDA
IDA: Inferred from direct assay
16549788 GOA
involved in DNA replication initiation IMP
IMP: Inferred from mutant phenotype
9353276 GOA
Cellular Component GO Annotation Evidence Reference Source
colocalizes with chromosome, telomeric region IDA
IDA: Inferred from direct assay
24270157 GOA
part of nuclear origin of replication recognition complex IDA
IDA: Inferred from direct assay
20932478 GOA
part of nuclear origin of replication recognition complex IPI
IPI: Inferred from physical interaction
16549788 GOA
located in nucleus IDA
IDA: Inferred from direct assay
9353276 GOA
part of origin recognition complex IDA
IDA: Inferred from direct assay
17716973 GOA
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

ORC4 Protein Structure

AAA_16

AAA_16: AAA ATPase domain (41 - 190)

ORC4_C

ORC4_C: Origin recognition complex (ORC) subunit 4 C-terminus (228 - 417)

  • 0
  • 100
  • 200
  • 300
  • 400
  • 436 a.a.
Protein Preferred Names Protein Names

origin recognition complex subunit 4

origin recognition complex, subunit 4 homolog

ORC4 Protein-protein interaction Information

Type
Protein Name Protein ID Interactor Interactor Species Interactor ID Detection Method Reference
Intra
ORC4 O43929 LACC1 Homo sapiens Q8IV20
Anti Tag CoIP
33961781
Intra
ORC4 O43929 LACC1 Homo sapiens Q8IV20
Anti Tag CoIP
28514442
Intra
ORC4 O43929 ORC6 Homo sapiens Q9Y5N6
BiFC
18234858
Intra
ORC4 O43929 ORC3 Homo sapiens Q9UBD5
Anti Bait CoIP
17716973
Intra
ORC4 O43929 ORC3 Homo sapiens Q9UBD5
Protein Array
15232106
Intra
ORC4 O43929 ORC2 Homo sapiens Q13416
Anti Bait CoIP
17716973
Intra
ORC4 O43929 TCF4 Homo sapiens P15884
Y2H Array
25416956
Intra
ORC4 O43929 TCF4 Homo sapiens P15884
Y2H Prey Pooling
25416956
Intra
ORC4 O43929 RRM2B Homo sapiens Q7LG56
Validated Y2H
25416956
Intra
ORC4 O43929 RRM2B Homo sapiens Q7LG56
Y2H Array
25416956
Intra
ORC4 O43929 RRM2B Homo sapiens Q7LG56
Y2H Prey Pooling
25416956
Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases Alias
Meier-Gorlin Syndrome 2

MGORS2

Meier-Gorlin Syndrome, Type 2

Mbd5 Haploinsufficiency

2q23.1 Microdeletion Syndrome

2q23.1 Microduplication Syndrome

Del(2)(Q23.1)

Monosomy 2q23.1

Pseudo-Angelman Syndrome

Mbd5 Associated Neurodevelopmental Disorder

Chromosome 2q23.1 Microdeletion Syndrome

Mbd5-Associated Neurodevelopmental Disorder

Mand

Dup(2)(Q23.1)

Trisomy 2q23.1

Meier-Gorlin Syndrome 1

Meier-Gorlin Syndrome

Ear, Patella, Short Stature Syndrome

Microtia, Absent Patellae, Micrognathia Syndrome

MGORS1

Eps

Ear-Patella-Short Stature Syndrome

Ear Patella Short Stature Syndrome

Microtia Absent Patellae Micrognathia Syndrome

Meier-Gorlin Syndrome, Type 1

Meier-Gorlin Syndrome 7

MGORS7

Meier-Gorlin Syndrome, Type 7

Meier-Gorlin Syndrome 5

MGORS5

Meier-Gorlin Syndrome, Type 5

Microtia

Congenital Small Ears

Hypoplasia Of Ear

Genitourinary Tract Anomalies
Isolated Growth Hormone Deficiency

Congenital Ighd

Congenital Isolated Gh Deficiency

Congenital Isolated Growth Hormone Deficiency

Non-Acquired Isolated Growth Hormone Deficiency

Pituitary Dwarfism

Dwarfism, Pituitary

Isolated Somatotropin Deficiency

Isolated Congenital Growth Hormone Deficiency

Familial Isolated Growth Hormone Deficiency

Ighd

Dwarfism, Growth Hormone Deficiency

Growth Hormone Deficiency Dwarfism

Isolated Gh Deficiency

Isolated Hgh Deficiency

Isolated Human Growth Hormone Deficiency

Isolated Somatotropin Deficiency Disorder

Dwarfism Pituitary

Isolated Growth Hormone Deficiency, Type Ia

Ighd Ia

Primordial Dwarfism

Isolated Growth Hormone Deficiency Type Ia

Sexual Ateleiotic Dwarfism

Pituitary Dwarfism I

IGHD1A

Illig-Type Growth Hormone Deficiency

Growth Hormone Deficiency, Isolated, Type Ia

Congenital Ighd Type Ia

Congenital Isolated Gh Deficiency Type Ia

Congenital Isolated Growth Hormone Deficiency Type Ia

Pituitary Dwarfism 1

Growth Hormone Deficiency, Isolated, Autosomal Recessive

Autosomal Recessive Isolated Growth Hormone Deficiency

Isolated Growth Hormone Deficiency Type 1a

Congenital Ighd

Congenital Isolated Gh Deficiency

Congenital Isolated Growth Hormone Deficiency

Growth Hormone Deficiency, Isolated Autosomal Recessive

Illig Type Growth Hormone Deficiency

Non-Acquired Isolated Growth Hormone Deficiency

Growth Hormone Deficiency, Isolated, 1a

Growth Hormone Deficiency Isolated Autosomal Recessive

Dwarfism, Primordial

Dwarfism

Nemaline Myopathy 2

NEM2

Nemaline Myopathy 2, Autosomal Recessive

Nemaline Myopathy, Type 2

Neb-Related Nemaline Myopathy

Myopathy, Nemaline, Type 2

Seckel Syndrome

Microcephalic Primordial Dwarfism

Bird-Headed Dwarfism

Harper'S Syndrome

Virchow-Seckel Dwarfism

Nanocephalic Dwarfism

Sckl

Seckel-Type Dwarfism

Microcephaly

Microencephaly

Microcephalus

Microcephalic

Nanocephaly

Congenital Microcephaly

Brain Hypoplasia

Brain Nondevelopment

Cephalic Hypoplasia

Undeveloped Cerebrum

Undeveloped Brain

Micrencephalon

Micrencephaly

Congenital Nervous System Abnormality

Congenital Neurologic Anomaly

Congenital Nervous System Disorder

Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Orthologs Information

Species Symbol Source ID
Canis familiaris ORC4 VGNC VGNC:44143
Macaca mulatta ORC4 VGNC VGNC:75716
Felis catus ORC4 VGNC VGNC:68651
Mus musculus ORC4 MGD MGI:1347043
Rattus norvegicus ORC4 RGD RGD:735212
Bos taurus ORC4 VGNC VGNC:32449