1. Gene
  2. INTS1 - integrator complex subunit 1 Gene

INTS1 - integrator complex subunit 1 Gene

中文名称:整合复合体亚基 1

种属: Homo sapiens

同用名: INT1; NET28; NDCAGF

基因 ID: 26173 | 基因类型: protein coding

关于 INTS1

Cytogenetic location: 7p22.3 Genomic coordinates (GRCh38): 7:1,470,277-1,504,389 (from NCBI)

This gene has 8 transcripts (splice variants), 196 orthologues and is associated with 2 phenotypes. Ubiquitous expression in testis (RPKM 20.1), kidney (RPKM 10.8) and 25 other tissues.

功能概要

INTS1 是 Integrator 复合体的一个亚基,它与 RNA 聚合酶 II 大亚基 (POLR2A; MIM 180660) 的 C 端结构域结合,并介导小核 RNA U1 (RNU1; MIM 180680) 和 U2 ( RNU2;MIM 180690) (Baillat 等人,2005 [PubMed 16239144]) 。[OMIM 提供,2008 年 3 月]

INTS1 is a subunit of the Integrator complex, which associates with the C-terminal domain of RNA polymerase II large subunit (POLR2A; MIM 180660) and mediates 3-prime end processing of small nuclear RNAs U1 (RNU1; MIM 180680) and U2 (RNU2; MIM 180690) (Baillat et al., 2005 [PubMed 16239144]).[supplied by OMIM, Mar 2008]

INTS1 基因产物(1)

mRNA Protein Name
NM_001080453.3 NP_001073922.2 integrator complex subunit 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 protein binding IPI
IPI: 通过物理相互作用推断
28514442 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in snRNA processing IDA
IDA: 通过直接分析推断
16239144 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
part of integrator complex IDA
IDA: 通过直接分析推断
16239144 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

INTS1 蛋白结构

DUF3677

DUF3677: Protein of unknown function (DUF3677) (350 - 430)

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  • 2190 a.a.
蛋白主名 其他名称

integrator complex subunit 1

关联疾病

疾病名称 别名
Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies

NDCAGF

Meier-Gorlin Syndrome 4

MGORS4

Meier-Gorlin Syndrome, Type 4

Microcephalic Osteodysplastic Primordial Dwarfism, Type I

Taybi-Linder Syndrome

Brachymelic Primordial Dwarfism

Cephaloskeletal Dysplasia

Low-Birth-Weight Dwarfism With Skeletal Dysplasia

Microcephalic Osteodysplastic Primordial Dwarfism Type I

Osteodysplastic Primordial Dwarfism Type I

Primordial Microcephalic Dwarfism, Crachami Type

Osteodysplastic Primordial Dwarfism, Type 1

MOPD1

Mopd I

Mopd

Osteodysplastic Primordial Dwarfism, Type I

Tals

Microcephalic Osteodysplastic Primordial Dwarfism Type 1

Mopd 1

Microcephalic Osteodysplastic Primordial Dwarfism Types 1 And 3

Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii

Mopd Types I And Iii

Microcephalic Osteodysplastic Primordial Dwarfism, Taybi-Linder Type

Primordial Microcephalic Dwarfism Crachami Type

Dwarfism, Primordial, Osteodysplastic, Microcephalic, Type 1

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
Rattus norvegicus INTS1 RGD RGD:1308908
Bos taurus INTS1 VGNC VGNC:30223
Felis catus INTS1 VGNC VGNC:62937
Canis familiaris INTS1 VGNC VGNC:42045
Macaca mulatta INTS1 VGNC VGNC:81336
Mus musculus INTS1 MGD MGI:1915760