CRYBB1 - crystallin beta B1 Gene

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

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

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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MedChemExpress (MCE) 只为有资质的科研机构、医药企业基于科学研究或药证申报的用途提供医药研发服务，不为任何个人或者非科研性质的、非用于药证申报使用等其他用途提供服务。

站点地图隐私声明

沪ICP备15051369号-4

上海工商

沪公网安备31011502019417

沪(浦)应急管危经许[2021]201709(QFYS)

营业执照（三证合一）

CRYBB1 - crystallin beta B1 Gene

关于 CRYBB1

功能概要

CRYBB1 基因产物(1)

CRYBB1 蛋白结构

CRYBB1 蛋白互作信息

关联疾病

直系同源

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CRYBB1 - crystallin beta B1 Gene

关于 CRYBB1

功能概要

CRYBB1 基因产物(1)

CRYBB1 蛋白结构

CRYBB1 蛋白互作信息

关联疾病

相关产品

直系同源

热门区域

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B

C

F

G

H

J

L

N

Q

S

T

X

Y

Z