ORC4 - origin recognition complex subunit 4 Gene

Also Known as ORC4L; ORC4P

生物種: Homo sapiens

遺伝子タイプ: protein coding
遺伝子ID: 5000

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
Molecular Function GO Annotation Evidence 参考文献 由来
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 参考文献 由来
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 参考文献 由来
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
タンパク質名 Protein ID Interactor Interactor Species Interactor ID Detection Method 参考文献
Intra
ORC4 O43929 LACC1 Homo sapiens Q8IV20 33961781
Intra
ORC4 O43929 LACC1 Homo sapiens Q8IV20 28514442
Intra
ORC4 O43929 ORC6 Homo sapiens Q9Y5N6 18234858
Intra
ORC4 O43929 ORC3 Homo sapiens Q9UBD5 17716973
Intra
ORC4 O43929 ORC3 Homo sapiens Q9UBD5 15232106
Intra
ORC4 O43929 ORC2 Homo sapiens Q13416 17716973
Intra
ORC4 O43929 TCF4 Homo sapiens P15884 25416956
Intra
ORC4 O43929 TCF4 Homo sapiens P15884 25416956
Intra
ORC4 O43929 RRM2B Homo sapiens Q7LG56 25416956
Intra
ORC4 O43929 RRM2B Homo sapiens Q7LG56 25416956
Intra
ORC4 O43929 RRM2B Homo sapiens Q7LG56 25416956
Cross: Cross-species interaction Intra: Intraspecies interaction

関連疾患

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

生物種 Symbol 由来 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
Others ORC4 NCBI