1. Gene
  2. SNRNP70 - small nuclear ribonucleoprotein U1 subunit 70 Gene

SNRNP70 - small nuclear ribonucleoprotein U1 subunit 70 Gene

中文名称:小核核糖核蛋白 U1 亚基 70

种属: Homo sapiens

同用名: RPU1; Snp1; U1AP; U170K; U1RNP; RNPU1Z; SNRP70; U1-70K

基因 ID: 6625 | 基因类型: protein coding

关于 SNRNP70

Cytogenetic location: 19q13.33 Genomic coordinates (GRCh38): 19:49,085,451-49,108,604 (from NCBI)

This gene has 10 transcripts (splice variants), 162 orthologues and 1 paralogue. Ubiquitous expression in prostate (RPKM 63.5), spleen (RPKM 63.2) and 25 other tissues.

功能概要

启用 U1 snRNA 结合活动。通过剪接体参与 mRNA 剪接并调节 RNA 剪接。位于核质中。 U1 snRNP 和剪接体复合体的一部分。与心理健康和系统性红斑狼疮有关。阿尔茨海默病的生物标志物。 [由基因组资源联盟提供,2022 年 4 月]

Enables U1 snRNA binding activity. Involved in mRNA splicing, via spliceosome and regulation of RNA splicing. Located in nucleoplasm. Part of U1 snRNP and spliceosomal complex. Implicated in disease of mental health and systemic lupus erythematosus. Biomarker of Alzheimer's disease. [provided by Alliance of Genome Resources, Apr 2022]

SNRNP70 基因产物(2)

mRNA Protein Name
NM_001301069.2 NP_001287998.1 U1 small nuclear ribonucleoprotein 70 kDa isoform 2
NM_003089.6 NP_003080.2 U1 small nuclear ribonucleoprotein 70 kDa 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 RNA binding IMP
IMP: 通过突变表型推断
2467746 GOA
enables U1 snRNA binding IDA
IDA: 通过直接分析推断
21113136 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
9447963 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in mRNA splicing, via spliceosome IDA
IDA: 通过直接分析推断
9531537 GOA
involved in regulation of RNA splicing IMP
IMP: 通过突变表型推断
2467746 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
part of U1 snRNP IDA
IDA: 通过直接分析推断
21113136 GOA
part of U1 snRNP IPI
IPI: 通过物理相互作用推断
33677607 GOA
located in nucleus IDA
IDA: 通过直接分析推断
18559850 GOA
part of spliceosomal complex IDA
IDA: 通过直接分析推断
9531537 GOA
part of spliceosomal complex IPI
IPI: 通过物理相互作用推断
33677607 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

SNRNP70 蛋白结构

U1snRNP70_N

U1snRNP70_N: U1 small nuclear ribonucleoprotein of 70kDa MW N terminal (1 - 95)

RRM_1

RRM_1: RNA recognition motif. (a.k.a. RRM, RBD, or RNP domain) (105 - 174)

  • 0
  • 100
  • 200
  • 300
  • 400
  • 437 a.a.
蛋白主名 其他名称

U1 small nuclear ribonucleoprotein 70 kDa

U1 snRNP 70 kDa

关联疾病

疾病名称 别名
Mixed Connective Tissue Disease

Sharp Syndrome

Mctd

Connective Tissue Disease Overlap Syndrome

Mixed Collagen Vascular Disease

Mctd - [Mixed Connective Tissue Disease]

Lupus Erythematosus

Lupus

Lupus Vulgaris

Lupus Erythematosus, Discoid

Lupus Erythematosus, Systemic

Subacute Cutaneous Lupus

Le - [Lupus Erythematosus]

Disease Of Mental Health

Mental Health

Mental Disorders

Systemic Scleroderma

Scleroderma

Progressive Systemic Sclerosis

Systemic Sclerosis

Scleroderma, Systemic

Scleroderma Syndrome

Dermatosclerosis

Familial Progressive Scleroderma

Progressive Scleroderma

Scleroderma Disease

Scleroderma, Localized

Diffuse Scleroderma

Scleroderma, Familial Progressive

Systemic Lupus Erythematosus

Lupus Nephritis

SLE

Disseminated Lupus Erythematosus

Systemic Lupus Erythematosus, Susceptibility To

Lupus Erythematosus, Systemic

Lupus Nephritis, Susceptibility To

Libman-Sacks Disease

Systemic Lupus Erythematosus Susceptibility To

Sle - Lupus Erythematosus, Systemic

Le Syndrome

Lupus

Lupus Erythematosus Systemic

Lupus Erythematosus, Systemic, Susceptibility To

Lupus Vulgaris

Lupus Erythematosus, Discoid

Lupus Erythematosus

Systemic Lupus Erythematosus Nos

Sle - [Systemic Lupus Erythematosus]

Diffuse Scleroderma

Diffuse Systemic Sclerosis

Systemic Sclerosis, Diffuse

Scleroderma, Diffuse

Systemic Scleroderma

Progressive System Sclerosis

Facial Hemiatrophy

Parry-Romberg Syndrome

Dyskinesia Of Esophagus

Esophageal Motility Disorders

Dyskinesia Of Oesophagus

Esophageal Dysmotility

Esophageal Motility Disorder

Oesophageal Dysmotility

Oesophageal Motor Disorder

Esophageal Spasm

Heart Block, Congenital

Congenital Heart Block

Heart Block Congenital

Congenital Atrioventricular Block

Collagen Disease

Collagen Diseases

Collagen Disorder

Epidermolysis Bullosa Dystrophica, Pretibial

Epidermolysis Bullosa, Pretibial

Pretibial Dystrophic Epidermolysis Bullosa

Deb-Pt

Dystrophic Epidermolysis Bullosa, Pretibial

Deb, Pretibial

Pretibial Epidermolysis Bullosa

Pretibial Deb

Localized Dystrophic Epidermolysis Bullosa, Pretibial Form

Localized Deb, Pretibial Form

Epidermolysis Bullosa Dystrophica, Pretibial Type

PR-DEB

Connective Tissue Disease

Connective Tissue Diseases

Connective Tissue Disorder

Abnormality Of Connective Tissue

Disorder Of Connective Tissue

Connective Tissue Disorders

Crest Syndrome
Libman-Sacks Endocarditis

Libmann-Sachs, Endocarditis In Systemic Lupus Erythematosus

Limited Scleroderma

Limited Cutaneous Systemic Sclerosis

Limited Systemic Sclerosis

Systemic Sclerosis Sine Scleroderma

Crest Syndrome

Limited Cutaneous Systemic Scleroderma

Scleroderma, Limited

Systemic Sclerosis, Limited

Progressive Systemic Sclerosis Sine Scleroderma

Scleroderma, Sine

Crest - [Calcinosis, Raynaud Phenomenon, Oesophageal Dysmotility, Sclerodactyly, And Telangiectasia] Syndrome

Crst - [Calcinosis, Raynaud Phenomenon, Sclerodactyly And Telangiectasia] Syndrome

Localized Scleroderma

Morphea

Localised Scleroderma

Localized Fibrosing Scleroderma

Circumscribed Scleroderma

Localised Morphea

Localised Morphoea

Localized Morphea

Scleroderma, Circumscribed Or Localised

Scleroderma, Circumscribed Or Localized

Scleroderma, Localized

Antisynthetase Syndrome

As Syndrome

Anti-Jo1 Syndrome

Childhood Type Dermatomyositis

Juvenile Dermatomyositis

Juvenile Dm

Childhood Dermatomyositis

Amyopathic Dermatomyositis

Adm

Dermatomyositis Sine Myositis

Dermatomyositis, Childhood Type

Cerebritis
Lymphoid Interstitial Pneumonia

Lymphocytic Interstitial Pneumonia

Lip Disease

Lip Diseases

LIP

Disease Of Lips

Autoimmune Disease Of Exocrine System
Raynaud Disease

Raynaud'S Disease

Raynaud Phenomenon

Raynaud'S Syndrome

Raynaud'S

Cold Fingers, Hereditary

Raynaud'S Phenomenon

Raynaud'S Disease/Phenomenon

Raynauds Syndrome

Raynauds Phenomenon

Secondary Raynaud'S Phenomenon

Raynaud Syndrome

Telangiectasis

Telangiectasia

Splenic Tuberculosis

Tuberculosis, Splenic

Hypotrichosis 13

HYPT13

Hypotrichosis With Woolly Hair

Hypotrichosis, Type 13

Aggressive Systemic Mastocytosis

Asm

Lymphadenopathic Mastocytosis With Eosinophilia

Myopathy

Muscular Diseases

Myopathies

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
Mus musculus SNRNP70 MGD MGI:98341
Canis familiaris SNRNP70 VGNC VGNC:46609
Rattus norvegicus SNRNP70 RGD RGD:1307120
Macaca mulatta SNRNP70 VGNC VGNC:77673
Bos taurus SNRNP70 VGNC VGNC:35073