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

ORC4 - origin recognition complex subunit 4 Gene

中文名称:起源识别复合亚基 4

种属: Homo sapiens

同用名: ORC4L; ORC4P

基因 ID: 5000 | 基因类型: protein coding

关于 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.

功能概要

起源识别复合物 (ORC) 是一种高度保守的六亚基蛋白复合物,对于真核细胞中 DNA 复制的启动至关重要。对酵母的研究表明,ORC 与复制起点特异性结合,并作为组装其他起始因子 (如 Cdc6 和 Mcm 蛋白) 的平台。该基因编码 ORC 复合体的一个亚基。已经报道了该基因的几种可变剪接的转录物变体,其中一些编码相同的蛋白质。[RefSeq 提供,2010 年 10 月]

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 基因产物(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
基因本体论
  • 分子功能
  • 生物过程
  • 细胞组分
分子功能 GO 注释 逻辑证据 参考文献 来源
enables DNA replication origin binding IMP
IMP: 通过突变表型推断
9353276 GOA
enables nucleotide binding IDA
IDA: 通过直接分析推断
9353276 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
15232106 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in DNA replication initiation IDA
IDA: 通过直接分析推断
16549788 GOA
involved in DNA replication initiation IMP
IMP: 通过突变表型推断
9353276 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
colocalizes with chromosome, telomeric region IDA
IDA: 通过直接分析推断
24270157 GOA
part of nuclear origin of replication recognition complex IDA
IDA: 通过直接分析推断
20932478 GOA
part of nuclear origin of replication recognition complex IPI
IPI: 通过物理相互作用推断
16549788 GOA
located in nucleus IDA
IDA: 通过直接分析推断
9353276 GOA
part of origin recognition complex IDA
IDA: 通过直接分析推断
17716973 GOA
EXP:通过实验结果推断 IDA:通过直接分析推断 IPI:通过物理相互作用推断 IMP:通过突变表型推断 IGI:通过遗传相互作用推断 IEP:通过表达模式推断

ORC4 蛋白结构

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.
蛋白主名 其他名称

origin recognition complex subunit 4

origin recognition complex, subunit 4 homolog

ORC4 蛋白互作信息

分类
蛋白名称 蛋白编号 互作蛋白 互作蛋白种属 互作蛋白编号 实验方法 参考文献
种属内
ORC4 O43929 LACC1 Homo sapiens Q8IV20
Anti Tag CoIP
33961781
种属内
ORC4 O43929 LACC1 Homo sapiens Q8IV20
Anti Tag CoIP
28514442
种属内
ORC4 O43929 ORC6 Homo sapiens Q9Y5N6
BiFC
18234858
种属内
ORC4 O43929 ORC3 Homo sapiens Q9UBD5
Anti Bait CoIP
17716973
种属内
ORC4 O43929 ORC3 Homo sapiens Q9UBD5
Protein Array
15232106
种属内
ORC4 O43929 ORC2 Homo sapiens Q13416
Anti Bait CoIP
17716973
种属内
ORC4 O43929 TCF4 Homo sapiens P15884
Y2H Array
25416956
种属内
ORC4 O43929 TCF4 Homo sapiens P15884
Y2H Prey Pooling
25416956
种属内
ORC4 O43929 RRM2B Homo sapiens Q7LG56
Validated Y2H
25416956
种属内
ORC4 O43929 RRM2B Homo sapiens Q7LG56
Y2H Array
25416956
种属内
ORC4 O43929 RRM2B Homo sapiens Q7LG56
Y2H Prey Pooling
25416956
种属间: 跨种属相互作用 种属内: 同种属相互作用

关联疾病

疾病名称 别名
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

疾病名称 别名
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

直系同源

种属 基因名 来源 基因 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