2. Gene
  3. CRYBB1 - crystallin beta B1 Gene

CRYBB1 - crystallin beta B1 Gene

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

中文名称：晶状体蛋白 B1

种属: Homo sapiens

同用名: CATCN3; CTRCT17

基因 ID: 1414 | 基因类型: protein coding

关于 CRYBB1

Cytogenetic location: 22q12.1 Genomic coordinates (GRCh38): 22:26,599,278-26,618,027 (from NCBI)

This gene has 2 transcripts (splice variants), 186 orthologues, 14 paralogues and is associated with 6 phenotypes. Broad expression in placenta (RPKM 1.8), spleen (RPKM 0.7) and 21 other tissues.

功能概要

晶状体蛋白分为两类：分类群特异性或酶类，以及普遍存在的。后一类构成脊椎动物眼睛晶状体的主要蛋白质，并维持晶状体的透明度和折射率。由于晶状体中央纤维细胞在发育过程中会失去细胞核，因此会产生这些晶状体蛋白并在整个生命过程中保留下来，从而使它们成为极其稳定的蛋白质。哺乳动物晶状体蛋白分为 alpha、beta 和 gamma 家族； beta 和 γ 晶状体蛋白也被认为是一个超家族。 Alpha 和 Beta 家族进一步分为酸性和碱性组。晶状体蛋白中存在七个蛋白质区域：四个同源基序、一个连接肽以及 N 和 C 末端延伸。 β-晶状体蛋白是最异质的，不同之处在于 C 末端延伸的存在 (存在于碱性基团中，不存在于酸性基团中) 。 β-晶状体蛋白形成不同大小的聚集体，并能够自缔合形成二聚体或与其他β-晶状体蛋白形成异二聚体。该基因是一个 β 基本组成员，在晶状体成熟过程中在其 N 末端延伸处发生广泛的裂解。它也是具有 beta-A4、beta-B2 和 beta-B3 的基因簇的成员。[RefSeq 提供，2008 年 7 月]

Crystallins are separated into two classes: taxon-specific, or Enzyme, and ubiquitous. The latter class constitutes the major proteins of vertebrate eye lens and maintains the transparency and refractive index of the lens. Since lens central fiber cells lose their nuclei during development, these crystallins are made and then retained throughout life, making them extremely stable proteins. Mammalian lens crystallins are divided into alpha, beta, and gamma families; beta and gamma crystallins are also considered as a superfamily. Alpha and beta families are further divided into acidic and basic groups. Seven protein regions exist in crystallins: four homologous motifs, a connecting peptide, and N- and C-terminal extensions. Beta-crystallins, the most heterogeneous, differ by the presence of the C-terminal extension (present in the basic group, none in the acidic group). Beta-crystallins form aggregates of different sizes and are able to self-associate to form dimers or to form heterodimers with other beta-crystallins. This gene, a beta basic group member, undergoes extensive cleavage at its N-terminal extension during lens maturation. It is also a member of a gene cluster with beta-A4, beta-B2, and beta-B3. [provided by RefSeq, Jul 2008]

CRYBB1 基因产物(1)

mRNA Protein Name
NM_001887.4 NP_001878.1 beta-crystallin B1
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
17662718 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

CRYBB1 蛋白结构

Crystall

Crystall: Beta/Gamma crystallin (61 - 142)

Crystall

Crystall: Beta/Gamma crystallin (150 - 231)

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

beta-crystallin B1

beta-B1 crystallin

CRYBB1 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 CRYBB1 P53674 GAS8 Homo sapiens O95995
Y2H Prey Pooling
32296183
Intra CRYBB1 P53674 GAS8 Homo sapiens O95995
Y2H Array
32296183
Intra CRYBB1 P53674 AP1B1 Homo sapiens Q10567-3
Y2H Prey Pooling
32296183
Intra CRYBB1 P53674 AP1B1 Homo sapiens Q10567-3
Validated Y2H
32296183
Intra CRYBB1 P53674 AP1B1 Homo sapiens Q10567-3
Y2H Array
32296183
Intra CRYBB1 P53674 CRYBA1 Homo sapiens P05813
Validated Y2H
25910212
Intra CRYBB1 P53674 CRYBA1 Homo sapiens P05813
Y2H Bait-Prey Pool
25910212
Intra CRYBB1 P53674 CRYBA1 Homo sapiens P05813
Y2H Array
25910212
Intra CRYBB1 P53674 CRYBA1 Homo sapiens P05813
Y2H
21516116
Intra CRYBB1 P53674 CRYBA1 Homo sapiens P05813
Y2H Prey Pooling
25416956
Intra CRYBB1 P53674 CRYBA1 Homo sapiens P05813
Y2H Array
25416956
Intra CRYBB1 P53674 TERF1 Homo sapiens P54274
Pull Down
21044950
Intra CRYBB1 P53674 DDIT4L Homo sapiens Q96D03
Validated Y2H
32296183
Intra CRYBB1 P53674 DDIT4L Homo sapiens Q96D03
Y2H Array
32296183
Intra CRYBB1 P53674 DDIT4L Homo sapiens Q96D03
Y2H Prey Pooling
32296183
Intra CRYBB1 P53674 CRYBA4 Homo sapiens P53673
Y2H
17662718
Intra CRYBB1 P53674 EXOC5 Homo sapiens O00471
Y2H Prey Pooling
32296183
Intra CRYBB1 P53674 EXOC5 Homo sapiens O00471
Y2H Array
32296183
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 17, Multiple Types

CTRCT17

Cataract, Congenital Nuclear, Autosomal Recessive 3

Catcn3

Cataract 17 Multiple Types

Cataract 17, Multiple Types, With Or Without Microcornea

Autosomal Recessive Congenital Nuclear Cataract 3
Cataract Microcornea Syndrome

Microcornea Cataract Syndrome

Cataract-Microcornea Syndrome
Cataract 30, Multiple Types

CTRCT30

Cataract 30, Pulverulent

Pulverulent Cataract

Coppock-Like Cataract

Dusty Cataract

Pulverulent Cataract 30

Cataract 30

Cataract, Pulverulent
Early-Onset Nuclear Cataract
Cataract 9, Multiple Types

Cataract 9 Multiple Types

CTRCT9

Cataract, Autosomal Dominant

Catc1

Cataract 9, Multiple Types, With Or Without Microcornea

Cataract, Autosomal Recessive Congenital 1

Autosomal Recessive Congenital Cataract 1

Cataract 9 Multiple Types With Or Without Microcornea

Autosomal Dominant Congenital Cataract

Cataract Autosomal Dominant

Cataracts, Autosomal Dominant
Cataract

Cataracts

Cat - [Cataract]

Cataract Form

Lens Opacity

Lens Opacities
Deafness, Autosomal Recessive 59

DFNB59

Autosomal Recessive Nonsyndromic Deafness 59

Autosomal Recessive Deafness 59

Deafness, Autosomal Recessive, 59

Dfnb59 Auditory Neuropathy

Deafness, Autosomal Recessive, Type 59
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
Abruzzo-Erickson Syndrome

Abruzzo Erickson Syndrome

ABERS

Charge-Like Syndrome, X-Linked

Cleft Palate-Coloboma-Deafness Syndrome

Charge Like Syndrome X-Linked

Charge-Like Syndrome

Cleft Palate-Coloboma-Hearing Loss Syndrome

X-Linked Charge-Like Syndrome
Triosephosphate Isomerase Deficiency

TPID

Triose Phosphate-Isomerase Deficiency

Hemolytic Anemia Due To Triosephosphate Isomerase Deficiency

Tpi Deficiency

Triose Phosphate Isomerase Deficiency

Deficiency Of Phosphotriose Isomerase

Hereditary Nonspherocytic Hemolytic Anemia Due To Triosephosphate Isomerase Deficiency
Posterior Polar Cataract

Cataract, Posterior Polar
Senile Cataract
Amblyopia

Lazy Eye
Lens Disease

Lens Diseases
Diabetic Cataract

Cataract - Diabetic
Persistent Hyperplastic Primary Vitreous

Congenital Retinal Detachment

Ncrna Disease

Non-Syndromic Congenital Retinal Non-Attachment

Pfvs

Phpv

Persistent Fetal Vasculature Syndrome
Iris Disease

Iris Diseases
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
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
Coloboma Of Macula

Coloboma

Congenital Ocular Coloboma

Microphthalmia, Isolated, With Coloboma

Agenesis Of Macula

Hereditary Macular Coloboma

Ocular Coloboma

Coloboma Of Eye

Macular Coloboma

Uveoretinal Coloboma
Eye Disease

Eye Diseases

Abnormality Of The Eye

Toxoplasma Oculopathy
Fundus Dystrophy

Retinal Dystrophy

Retinal Dystrophies

Dystrophy, Retinal
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-RS03210 CRYBB1 Human Pre-designed siRNA Set A Pre-designed Sets / 否

直系同源

种属 基因名 来源 基因 ID
Bos taurus CRYBB1 VGNC VGNC:27736
Mus musculus CRYBB1 MGD MGI:104992
Rattus norvegicus CRYBB1 RGD RGD:2416
Macaca mulatta CRYBB1 VGNC VGNC:71504
Felis catus CRYBB1 VGNC VGNC:61201
Canis familiaris CRYBB1 VGNC VGNC:39639
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