1. Gene
  2. FBL - fibrillarin Gene

FBL - fibrillarin Gene

中文名称:纤维蛋白

种属: Homo sapiens

同用名: FIB; FLRN; Nop1; RNU3IP1

基因 ID: 2091 | 基因类型: protein coding

关于 FBL

Cytogenetic location: 19q13.2 Genomic coordinates (GRCh38): 19:39,834,458-39,846,379 (from NCBI)

This gene has 11 transcripts (splice variants), 1 gene allele, 194 orthologues and 1 paralogue. Ubiquitous expression in ovary (RPKM 114.7), bone marrow (RPKM 68.4) and 25 other tissues.

功能概要

该基因产物是核仁小核核糖核蛋白 (snRNP) 颗粒的组成部分,被认为参与了核糖体前体 RNA 加工的第一步。它与 U3、U8 和 U13 小核 RNA 相关,位于核仁的致密纤维状成分 (DFC) 中。编码的蛋白质包含一个 N 末端重复结构域,该结构域富含甘氨酸和精氨酸残基,就像其他物种中的原纤维蛋白一样。它的中心区域类似于 RNA 结合域并包含 RNP 共有序列。来自大约 8% 患有自身免疫性疾病硬皮病的人的抗血清可识别原纤维蛋白。[RefSeq 提供,2008 年 7 月]

This gene product is a component of a nucleolar small nuclear ribonucleoprotein (snRNP) particle thought to participate in the first step in processing preribosomal RNA. It is associated with the U3, U8, and U13 small nuclear RNAs and is located in the dense fibrillar component (DFC) of the nucleolus. The encoded protein contains an N-terminal repetitive domain that is rich in glycine and arginine residues, like fibrillarins in Other species. Its central region resembles an RNA-binding domain and contains an RNP consensus sequence. Antisera from approximately 8% of humans with the autoimmune disease scleroderma recognize fibrillarin. [provided by RefSeq, Jul 2008]

FBL 基因产物(1)

mRNA Protein Name
NM_001436.4 NP_001427.2 rRNA 2'-O-methyltransferase fibrillarin
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 ATPase binding IPI
IPI: 通过物理相互作用推断
17636026 GOA
enables TFIID-class transcription factor complex binding IPI
IPI: 通过物理相互作用推断
17636026 GOA
enables histone H2AQ104 methyltransferase activity IDA
IDA: 通过直接分析推断
24352239 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
10837141 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in rRNA methylation IDA
IDA: 通过直接分析推断
30540930 GOA
involved in ribosomal small subunit biogenesis IDA
IDA: 通过直接分析推断
34516797 GOA
involved in snoRNA localization IMP
IMP: 通过突变表型推断
17636026 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in Cajal body IDA
IDA: 通过直接分析推断
16687569 GOA
located in nucleolus IDA
IDA: 通过直接分析推断
15494374 GOA
located in nucleus IDA
IDA: 通过直接分析推断
22720776 GOA
part of small-subunit processome IDA
IDA: 通过直接分析推断
34516797 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

FBL 蛋白结构

Fibrillarin

Fibrillarin: Fibrillarin (88 - 314)

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

rRNA 2'-O-methyltransferase fibrillarin

34 kDa nucleolar scleroderma antigen

FBL 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
Intra FBL P22087 ZNF792 Homo sapiens Q3KQV3
Validated Y2H
32296183
Intra FBL P22087 DDX5 Homo sapiens P17844
Confocal
10837141
Intra FBL P22087 DDX5 Homo sapiens P17844
Anti Bait CoIP
10837141
Intra FBL P22087 DDX5 Homo sapiens P17844
Y2H
10837141
Intra FBL P22087 RRP1B Homo sapiens Q14684
BioID
29568061
Intra FBL P22087 NOL11 Homo sapiens Q9H8H0
Anti Tag CoIP
33961781
Intra FBL P22087 NOL11 Homo sapiens Q9H8H0
Anti Bait CoIP
22916032
Intra FBL P22087 TGS1 Homo sapiens Q96RS0
Anti Tag CoIP
33961781
Intra FBL P22087 TGS1 Homo sapiens Q96RS0
Anti Tag CoIP
28514442
Intra FBL P22087 TGS1 Homo sapiens Q96RS0
Anti Tag CoIP
35271311
Intra FBL P22087 TGS1 Homo sapiens Q96RS0
Anti Bait CoIP
21522132
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
Scleroderma, Familial Progressive

Systemic Sclerosis

Systemic Scleroderma

Systemic Sclerosis, Susceptibility To

Sclerosis Systemic

Crest Syndrome

Progressive Scleroderma

Myositis

Idiopathic Inflammatory Myopathy

Idiopathic Inflammatory Myositis

Iim

Imm

Idiopathic Inflammatory Myopathies

Myopathy, Familial Idiopathic Inflammatory

Inflammatory Disorder Of Muscle

Idiopathic Inflammatory Myopathy, Familial

Inflammatory Myopathy, Idiopathic

Myopathies Idiopathic Inflammatory

Familial Idiopathic Inflammatory Myopathy

Telangiectasis

Telangiectasia

Diffuse Scleroderma

Diffuse Systemic Sclerosis

Systemic Sclerosis, Diffuse

Scleroderma, Diffuse

Systemic Scleroderma

Progressive System Sclerosis

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

Dyskeratosis Congenita

Dyskeratosis Congenita Autosomal Dominant

Dc

Dkc

Zinsser-Engman-Cole Syndrome

Dyskeratosis Congenita, Autosomal Dominant

Autosomal Dominant Dyskeratosis Congenita

Dkca

Dyskeratosis Congenita Scoggins Type

Zinsser-Cole-Engman Syndrome

X-Linked Dyskeratosis Congenita

Hoyeraal-Hreidarsson Syndrome

Intestinal Disaccharidase Deficiency

Disaccharidase Deficiency

Gastrojejunal Ulcer

Acute Gastrojejunal Ulcer With Hemorrhage

Acute Gastrojejunal Ulcer With Hemorrhage And Obstruction

Acute Gastrojejunal Ulcer With Hemorrhage And Perforation

Acute Gastrojejunal Ulcer With Hemorrhage And Perforation, With Obstruction

Acute Gastrojejunal Ulcer With Hemorrhage, With Perforation And With Obstruction

Acute Gastrojejunal Ulcer With Perforation

Acute Gastrojejunal Ulcer With Perforation And Obstruction

Acute Gastrojejunal Ulcer With Perforation, With Obstruction

Acute Gastrojejunal Ulcer Without Hemorrhage And Without Perforation

Acute Gastrojejunal Ulcer Without Hemorrhage, Without Perforation And Without Obstruction

Acute Gastrojejunal Ulcer Without Mention Of Hemorrhage Or Perforation, Without Mention Of Obstruction

Acute Gastrojejunal Ulcer, With Hemorrhage, With Obstruction

Chronic Gastrojejunal Ulcer Without Hemorrhage And Without Perforation

Chronic Gastrojejunal Ulcer Without Hemorrhage, Without Perforation And Without Obstruction

Chronic Gastrojejunal Ulcer Without Mention Of Hemorrhage Or Perforation, Without Mention Of Obstruction

Marginal Ulcer

Crest Syndrome
Spinal Muscular Atrophy

Sma

5q Sma

Proximal Sma

Sma-Associated Sma

Spinal Amyotrophies

Spinal Amyotrophy

Spinal Muscle Degeneration

Spinal Muscle Wasting

Muscular Atrophy Spinal

Atrophy, Muscular, Spinal

Hereditary Motor Neuronopathy

Progressive Muscular Atrophy

Sma - [Spinal Muscular Atrophy]

Pharyngoconjunctival Fever

Pharyngo-Conjunctival Fever

Adenoviral Pharyngoconjunctivitis

Adenovirus Infections, Human

Autoimmune Disease

Autoimmune Diseases

Autoimmune Hypersensitivity Disease

Hypersensitivity Reaction Type Ii Disease

Type Ii Hypersensitivity Reaction Disease

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

Mediastinal Lipomatosis
Dyskeratosis Congenita, X-Linked

DKCX

X-Linked Dyskeratosis Congenita

Zinsser-Cole-Engman Syndrome

Hoyeraal-Hreidarsson Syndrome

Dyskeratosis Congenita X-Linked

HHS

Cerebellar Hypoplasia With Pancytopenia

Prenatal Growth Retardation With Progressive Pancytopenia And Cerebellar Hypoplasia

Dyskeratosis Congenita

Bronchiectasis 3
Muscular Atrophy

Muscle Wasting

Amyotrophia

Wasting - Muscle

Skeletal Muscle Atrophy

Keratosis Follicularis Spinulosa Decalvans, Autosomal Dominant

Autosomal Dominant Keratosis Follicularis Spinulosa Decalvans

KFSD

Connective Tissue Disease

Connective Tissue Diseases

Connective Tissue Disorder

Abnormality Of Connective Tissue

Disorder Of Connective Tissue

Connective Tissue Disorders

Dyskinesia Of Esophagus

Esophageal Motility Disorders

Dyskinesia Of Oesophagus

Esophageal Dysmotility

Esophageal Motility Disorder

Oesophageal Dysmotility

Oesophageal Motor Disorder

Esophageal Spasm

Splenic Tuberculosis

Tuberculosis, Splenic

Alpha-2-Plasmin Inhibitor Deficiency

Plasmin Inhibitor Deficiency

Antiplasmin Deficiency

Antiplasmin Defiency

Anti-Plasmin Deficiency, Congenital

Antiplasmin Deficiency, Congenital

Congenital Alpha2-Antiplasmin Deficiency

APLID

Congenital Alpha2 Antiplasmin Deficiency

Diamond-Blackfan Anemia

Congenital Pure Red Cell Aplasia

Aase Syndrome

Erythrogenesis Imperfecta

Anemia, Diamond-Blackfan

Congenital Hypoplastic Anemia

Aase-Smith Ii Syndrome

Bds

Blackfan-Diamond Anemia

Congenital Prca

Congenital Hypoplastic Anemia, Blackfan-Diamond Type

Dba

Blackfan - Diamond Syndrome

Chronic Constitutional Pure Red Cell Anaemia

Anemia Diamond Blackfan Type

Anemia Congenital Erythroid Hypoplastic

Aregenerative Anemia Chronic Congenital

Blackfan Diamond Syndrome

Red Cell Aplasia, Pure Hereditary

Aase-Smith Syndrome Ii

Bda

Blackfan Diamond Anemia

Blackfan-Diamond Disease

Blackfan-Diamond Syndrome

Chronic Congenital Agenerative Anemia

Congenital Erythroid Hypoplastic Anemia

Congenital Hypoplastic Anemia Of Blackfan And Diamond

Congenital Pure Red Cell Anemia

Hypoplastic Congenital Anemia

Inherited Erythroblastopenia

Pure Hereditary Red Cell Aplasia

Anemia, Hypoplastic, Congenital

Anemia Hypoplastic Congenital

Fanconi Anemia

Constitutional Aplastic Anemia

Diamond-Blackfan Anemia 1

Aase Smith Syndrome 2

Congenital Red Cell Aplasia

Red Cell Aplasia Of Infants

Pure Red Cell Aplasia Of Infants

Congenital Red Cell Aplastic Anaemia

Congenital Pure Red Cell Anaemia

Congenital Erythroid Hypoplasia

Pearson Marrow-Pancreas Syndrome

Retinitis Pigmentosa

RP

Rod-Cone Dystrophy

Autosomal Recessive Retinitis Pigmentosa

Non-Syndromic Retinitis Pigmentosa

Pericentral Pigmentary Retinopathy

Pigmentary Retinopathy

Tapetoretinal Degeneration

Rcd

Retinitis Pigmentosa Autosomal Recessive

ARRP

Retinitis Pigmentosa, Autosomal Recessive

Retinitis Pigmentosa 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
Canis familiaris FBL VGNC VGNC:40748
Bos taurus FBL VGNC VGNC:28879
Rattus norvegicus FBL RGD RGD:1305542
Macaca mulatta FBL VGNC VGNC:72619
Felis catus FBL VGNC VGNC:62165
Mus musculus FBL MGD MGI:95486
Others FBL NCBI