CRYBA1 - crystallin beta A1 Gene

中文名称：晶状体蛋白 A1

种属: Homo sapiens

同用名: CRYB1; CTRCT10

基因 ID: 1411 | 基因类型: protein coding

关于 CRYBA1

Cytogenetic location: 17q11.2 Genomic coordinates (GRCh38): 17:29,246,859-29,254,494 (from NCBI)

This gene has 2 transcripts (splice variants), 204 orthologues, 14 paralogues and is associated with 7 phenotypes. Low expression observed in reference dataset.

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 酸性组成员，从单个 mRNA 编码两种蛋白质 (晶状体蛋白，β A3 和晶状体蛋白，β A1) ，后一种蛋白质比晶状体蛋白，β A3 短 17 个氨基酸，并且是通过使用交替翻译起始产生的地点。外显子 3 和 4 的缺失会导致常染色体显性遗传病“伴有缝线混浊的小带白内障”。[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 acidic group member, encodes two proteins (crystallin, beta A3 and crystallin, beta A1) from a single mRNA, the latter protein is 17 aa shorter than crystallin, beta A3 and is generated by use of an alternate translation initiation site. Deletion of exons 3 and 4 causes the autosomal dominant disease 'zonular cataract with sutural opacities'. [provided by RefSeq, Jul 2008]

CRYBA1 基因产物(1)

mRNA	Protein	Name
NM_005208.5	NP_005199.2	beta-crystallin A3

CRYBA1 蛋白结构

Crystall

0
100
200
215 a.a.

蛋白主名

其他名称

beta-crystallin A3

beta crystallin A3 chain transcript CN

关联疾病

疾病名称

别名

Cataract 10, Multiple Types

Cataract 10 Multiple Types	CTRCT10
Cataract, Congenital Zonular, With Sutural Opacities	Cczs
Congenital Zonular Cataract With Sutural Opacities	Cataract, Congenital, Zonular With Sutural Opacities
Cataract, Type 10, Multiple Types

Early-Onset Sutural Cataract

Early-Onset Cataract With Y-Shaped Suture Opacities

Early-Onset Posterior Polar Cataract

Early-Onset Lamellar Cataract

Early-Onset Nuclear Cataract

Cataract

Cataracts	Cat - [Cataract]
Cataract Form	Lens Opacity
Lens Opacities

Cataract 32, Multiple Types

Cataract, Posterior Polar, 5	Ctpp5
CTRCT32	Ctaa1
Cataract, Anterior Polar	Cap
Cataract 32 Multiple Types	Cataract, Anterior Polar, 1
Anterior Polar Cataract 1	Posterior Polar Cataract 5
Cataract, Anterior Polar 1

Posterior Polar Cataract

Cataract, Posterior Polar

Cataract 16, Multiple Types

Cataract 16 Multiple Types	CTRCT16
Ctpp2	Cataract, Posterior Polar, 2
Posterior Polar Cataract 2	Cataract, Congenital Lamellar
Congenital Lamellar Cataract

Cataract 31, Multiple Types

Cataract, Posterior Polar, 3	Ctpp3
Cataract 31 Multiple Types	CTRCT31
Cpp3	Posterior Polar Cataract 3
Cataract, Type 31, Multiple Types

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

Cataract 11, Multiple Types

Cataract, Posterior Polar, 4	Ctpp4
Cpp4	Cataract 11 Multiple Types
CTRCT11	Cataract 11, Syndromic, Autosomal Recessive
Cataract 11 With Microphthalmia And Neurodevelopmental Abnormalities	Posterior Polar Cataract 4
Posterior Polar Cataract, 4	Cataract Posterior Polar 4
Syndromic Cataract 11	Cataract, Type 11, Multiple Types

Autoimmune Optic Neuritis

Axenfeld-Rieger Syndrome, Type 3

Axenfeld-Rieger Syndrome Type 3	RIEG3
Anterior Chamber Cleavage Syndrome	Anterior Segment Mesenchymal Dysgenesis
Axenfeld-Rieger Anomaly With Cardiac Defects And/Or Sensorineural Hearing Loss	Axenfeld-Rieger Anomaly With Or Without Cardiac Defects And/Or Sensorineural Hearing Loss
Rieger Syndrome Type 3	Axenfeld-Rieger Anomaly
Rieger Syndrome, Type 3	Axenfeld-Rieger Syndrome 3
Axenfeld Anomaly	Rieger Anomaly
Rieger Syndrome	Rieger Eye Malformation Sequence

Persistent Hyperplastic Primary Vitreous

Congenital Retinal Detachment	Ncrna Disease
Non-Syndromic Congenital Retinal Non-Attachment	Pfvs
Phpv	Persistent Fetal Vasculature Syndrome

Lens Disease

Lens Diseases

Esotropia

Convergence In Manifest Squint	Crossed Eyes
Internal Strabismus	Convergent Concomitant Strabismus
Convergent Squint	Convergent Strabismus
Cross-Eye

Amblyopia

Lazy Eye

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

Erythrokeratodermia Variabilis Et Progressiva 1

Erythrokeratodermia Variabilis	Erythrokeratodermia Variabilis Et Progressiva
Greither Disease	Ekv
Ekvp	PSEK
Erythrokeratodermia Variabilis With Erythema Gyratum Repens	Keratosis Palmoplantaris Transgrediens Et Progrediens
Transgrediens Et Progrediens Palmoplantar Keratoderma	EKVP1
Erythrokeratodermia, Progressive Symmetric	Erythrokeratodermia Figurata, Congenital Familial, In Plaques
Keratoderma Palmoplantaris Transgrediens	Keratosis Extremitatum Hereditaria Progrediens
Erythrokeratodermia Variabilis, Mendes Da Costa Type	Progressive Symmetric Erythrokeratodermia
Erythrokeratodermia Figurata Variabilis	Greither'S Disease
Ekv-P	Erythrokeratodermia Variabilis Of Mendes Da Costa
Progressive Symmetrical Erythrokeratoderma Of Gottron	Progressive Diffuse Ppk
Progressive Diffuse Palmoplantar Keratoderma	Transgrediens Et Progrediens Ppk
Darier-Gottron Disease	Erythrokeratodermia Progressiva Symmetrica
Progressive Symmetric Erythrokeratodermia, Gottron Type	Congenital Familial Erythrokeratodermia Figurata In Plaques
Erythrokeratodermia Progressive Symmetric	Erythrokeratodermia Variabilis Mendes Da Costa Type

Fundus Dystrophy

Retinal Dystrophy	Retinal Dystrophies
Dystrophy, Retinal

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

Cat. No.	产品名	作用方式	纯度	是否罕见病
HY-RS03208	CRYBA1 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	CRYBA1	VGNC	VGNC:27733
Canis familiaris	CRYBA1	VGNC	VGNC:39636
Rattus norvegicus	CRYBA1	RGD	RGD:2415
Felis catus	CRYBA1	VGNC	VGNC:61198
Macaca mulatta	CRYBA1	VGNC	VGNC:71502
Mus musculus	CRYBA1	MGD	MGI:88518

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