2. Gene
  3. BFSP1 - beaded filament structural protein 1 Gene

BFSP1 - beaded filament structural protein 1 Gene

  • 基因
  • 蛋白
  • 疾病
  • 相关产品
  • 直系同源

中文名称：串珠丝结构蛋白 1

种属: Homo sapiens

同用名: CP94; CP115; LIFL-H; CTRCT33

基因 ID: 631 | 基因类型: protein coding

关于 BFSP1

Cytogenetic location: 20p12.1 Genomic coordinates (GRCh38): 20:17,493,905-17,569,220 (from NCBI)

This gene has 5 transcripts (splice variants), 201 orthologues and is associated with 4 phenotypes. Broad expression in testis (RPKM 2.0), thyroid (RPKM 0.9) and 20 other tissues.

功能概要

该基因编码一种名为 filensin 的晶状体特异性中间丝状蛋白。编码的蛋白质在分化开始后在晶状体纤维细胞中表达。这种蛋白质作为珠状丝的成分起作用，珠状丝是在晶状体纤维细胞中发现的细胞骨架结构。该基因的突变是常染色体隐性遗传皮质青少年白内障的原因。交替剪接导致多个转录本变体。[RefSeq 提供，2013 年 7 月]

This gene encodes a lens-specific intermediate filament-like protein named filensin. The encoded protein is expressed in lens fiber cells after differentiation has begun. This protein functions as a component of the beaded filament which is a cytoskeletal structure found in lens fiber cells. Mutations in this gene are the cause of autosomal recessive cortical juvenile-onset cataract. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013]

BFSP1 基因产物(5)

mRNA Protein Name
NM_001161705.2 NP_001155177.1 filensin isoform 2
NM_001195.5 NP_001186.1 filensin isoform 1
NM_001278606.2 NP_001265535.1 filensin isoform 3
NM_001278607.2 NP_001265536.1 filensin isoform 4
NM_001278608.2 NP_001265537.1 filensin isoform 3
基因本体论
  • 分子功能
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
25416956 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

BFSP1 蛋白结构

Filament

Filament: Intermediate filament protein (43 - 188)

  • 0
  • 200
  • 400
  • 600
  • 665 a.a.
蛋白主名 其他名称

filensin

beaded filament structural protein 1, filensin

BFSP1 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 BFSP1 Q12934 NUP62 Homo sapiens P37198
Y2H Prey Pooling
25416956
Intra BFSP1 Q12934 NUP62 Homo sapiens P37198
Y2H Array
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
Cataract 33, Multiple Types

CTRCT33

Cortical Cataract 33

Cortical Juvenile-Onset Cataract

Cataract, Cortical, Juvenile-Onset

Cataract 33
Cataract 33

Cortical Cataract 33

Ctrct33

Cataract, Type 33
Early-Onset Nuclear Cataract
Cataract

Cataracts

Cat - [Cataract]

Cataract Form

Lens Opacity

Lens Opacities
Nodular Basal Cell Carcinoma

Basal Cell Carcinoma, Nodular

Circumscribed Solid Basal Cell Carcinoma

Skin Nodulo-Ulcerative Basal Cell Carcinoma

Skin Solid Basal Cell Carcinoma

Skin Nodular Basal Cell Carcinoma

Skin Nodular Solid Basal Cell Carcinoma

Nodulo-Ulcerative Basal Cell Carcinoma

Circumscribed Solid Basal Cell Carcinoma Of Skin
Senile Cataract
Presbyopia

Subnormal Accommodation

Accommodation Insufficiency Of Old Age
Mature Cataract

Total Or Mature Cataract

Total, Mature Senile Cataract
Eye Accommodation Disease
Nance-Horan Syndrome

NHS

Cataract-Dental Syndrome

Cataract, X-Linked, With Hutchinsonian Teeth

Mesiodens-Cataract Syndrome

Cataract X-Linked With Hutchinsonian Teeth

Cataract Dental Syndrome

Mesiodens Cataract Syndrome
Deprivation Amblyopia

Disuse Amblyopia

Stimulus Deprivation Amblyopia
Galactosemia Ii

Galactokinase Deficiency

Galk Deficiency

Galactokinase Deficiency With Cataracts

Deficiency Of Galactokinase

GALAC2

Galk-D

Galactokinase Deficiency Galactosemia

Galactosemia 2

Galactosemia Type 2

Hereditary Galactokinase Deficiency

Galactokinase Deficiency, Cataract

Galactosemias

Galk - [Galactokinase Deficiency]
Borst-Jadassohn Intraepidermal Carcinoma

Intraepidermal Epithelioma Of Jadassohn

Bowen'S Disease, Clonal
Lens Subluxation

Subluxation Of Lens
Amblyopia

Lazy Eye
Lens Disease

Lens Diseases
Anterior Segment Dysgenesis

Anterior Segment Developmental Anomaly

Anterior Segment Mesenchymal Dysgenesis

Corneal Opacification And Other Ocular Anomalies

Sclerocornea With Other Ocular Anomalies

Asmd

Asod

Anterior Segment Ocular Dysgenesis

Foxe3-Related Ocular Disorder

Familial Ocular Anterior Segment Mesenchymal Dysgenesis

Dysgenesis, Anterior Segment

Irido-Corneal Dysgenesis

Axenfeld-Rieger Syndrome, Type 3
Aniridia 1

Aniridia

Congenital Aniridia

AN1

An

Cataract With Late-Onset Corneal Dystrophy

Aplasia Of Iris

Absent Iris

Irideremia

Aniridia Ii, Formerly

An2, Formerly

An2

Aniridia Type Ii

Aniridia, Type 1

An-1

Absence Of Iris

Agenesis Of Iris

Congenital Absence Of Iris

Hereditary Aniridia

Sporadic Aniridia
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

相关产品

Pre-clinical Phase
生物活性分子 (1)
Cat. No. 产品名 作用方式
纯度 是否罕见病
HY-RS01486 BFSP1 Human Pre-designed siRNA Set A Pre-designed Sets / 否

直系同源

种属 基因名 来源 基因 ID
Mus musculus BFSP1 MGD MGI:101770
Rattus norvegicus BFSP1 RGD RGD:2205
Felis catus BFSP1 VGNC VGNC:60107
Canis familiaris BFSP1 VGNC VGNC:38440
Macaca mulatta BFSP1 VGNC VGNC:70244
Bos taurus BFSP1 VGNC VGNC:26478
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