ADD3 - adducin 3 Gene

中文名称：内收素 3

种属: Homo sapiens

同用名: ADDL; CPSQ3

基因 ID: 120 | 基因类型: protein coding

关于 ADD3

Cytogenetic location: 10q25.1-q25.2 Genomic coordinates (GRCh38): 10:109,996,373-110,135,565 (from NCBI)

This gene has 20 transcripts (splice variants), 275 orthologues, 2 paralogues and is associated with 2 phenotypes. Ubiquitous expression in brain (RPKM 57.5), thyroid (RPKM 50.2) and 25 other tissues.

功能概要

内收蛋白是由称为内收蛋白 α、β 和 γ 的不同亚基组成的异聚蛋白。这三个亚基由不同的基因编码，属于膜骨架蛋白家族，参与红细胞中血影蛋白-肌动蛋白网络的组装以及上皮组织中细胞-细胞接触部位。虽然内收蛋白 alpha 和 γ 普遍表达，但内收蛋白 beta 的表达仅限于脑和造血组织。 Adducin 最初是从人类红细胞中纯化出来的，被发现是 adducins alpha 和 beta 的异二聚体。在这两个亚基中导致氨基酸取代的多态性与高血压动物模型中的血压调节有关。还描述了由 α 和 γ 亚基组成的异二聚体。在结构上，每个亚基由两个不同的域组成。氨基末端区域是蛋白酶抗性和球形的，而羧基末端区域是蛋白酶敏感的。后者包含蛋白激酶 C 的多个磷酸化位点、钙调蛋白的结合位点，并且是与血影蛋白和肌动蛋白结合所必需的。已经描述了编码不同亚型的选择性剪接内收蛋白伽马转录物。不同亚型的功能尚不清楚。[RefSeq 提供，2008 年 7 月]

Adducins are heteromeric proteins composed of different subunits referred to as adducin alpha, beta and gamma. The three subunits are encoded by distinct genes and belong to a family of membrane skeletal proteins involved in the assembly of spectrin-actin network in erythrocytes and at sites of cell-cell contact in epithelial tissues. While adducins alpha and gamma are ubiquitously expressed, the expression of adducin beta is restricted to brain and hematopoietic tissues. Adducin, originally purified from human erythrocytes, was found to be a heterodimer of adducins alpha and beta. Polymorphisms resulting in amino acid substitutions in these two subunits have been associated with the regulation of blood pressure in an animal model of hypertension. Heterodimers consisting of alpha and gamma subunits have also been described. Structurally, each subunit is comprised of two distinct domains. The amino-terminal region is protease resistant and globular in shape, while the carboxy-terminal region is protease sensitive. The latter contains multiple phosphorylation sites for protein kinase C, the binding site for Calmodulin, and is required for association with spectrin and actin. Alternatively spliced adducin gamma transcripts encoding different isoforms have been described. The functions of the different isoforms are not known. [provided by RefSeq, Jul 2008]

ADD3 基因产物(7)

mRNA	Protein	Name
NM_001121.4	NP_001112.2	gamma-adducin isoform b
NM_001320591.2	NP_001307520.1	gamma-adducin isoform a
NM_001320592.2	NP_001307521.1	gamma-adducin isoform a
NM_001320593.2	NP_001307522.1	gamma-adducin isoform a
NM_001320594.2	NP_001307523.1	gamma-adducin isoform c
NM_016824.5	NP_058432.1	gamma-adducin isoform a
NM_019903.5	NP_063968.1	gamma-adducin isoform b

ADD3 蛋白结构

Aldolase_II

0
200
400
600
706 a.a.

蛋白主名

其他名称

gamma-adducin

adducin 3 (gamma)

关联疾病

疾病名称

别名

Cerebral Palsy, Spastic Quadriplegic, 3

CPSQ3

Cerebral Palsy, Spastic Quadriplegic 3

Inherited Congenital Spastic Tetraplegia

Inherited Congenital Spastic Quadriplegia	Quadriplegic Cerebral Palsy
Spastic Quadriplegic Cerebral Palsy

Cerebral Palsy

Infantile Cerebral Palsy	Mixed Cerebral Palsy
Palsy Cerebral	Palsy, Cerebral
Cerebral Palsy, Mixed

Biliary Atresia

Congenital Biliary Atresia	Isolated Biliary Atresia
Isolated Atresia Of Bile Ducts	Non-Syndromic Biliary Atresia
Atresia Of Bile Duct	Biliary Atresia, Congenital
Atresia Of Bile Ducts	Bile Duct Atresia
Congenital Bile Duct Atresia	Ba - [Biliary Atresia]
Impervious Bile Duct	Atresia Of Common Duct
Biliary Duct Atresia	Bile Ductal Atresia
Cystic Duct Atresia

Hereditary Elliptocytosis

Congenital Elliptocytosis	Ovalocytosis
Elliptocytosis, Hereditary	He
Elliptocytosis Hereditary	Congenital Ovalocytosis
Elliptocytosis	Hereditary Elliptocytosis With Infantile Poikilocytosis
Hereditary Ovalocytosis	Oval Erythrocytosis
He - [Hereditary Elliptocytosis]	Elliptocytosis Anaemia

Bile Duct Cysts

Choledochal Cyst	Choledochal Cysts
Choledochocele	Biliary Cyst
Congenital Choledochal Cyst	Bile Duct Cyst
Congenital Cystic Dilatation Of The Biliary Tract	Congenital Bile Duct Dilatation

Hereditary Spherocytosis

Congenital Spherocytic Hemolytic Anemia	Spherocytic Anemia
Congenital Spherocytosis	Spherocytosis, Type 1
Minkowski Chauffard Syndrome	Hs
Minkowski-Chauffard Disease	Minkowski-Chauffard Syndrome
Spherocytosis Hereditary	Spherocytosis, Hereditary
Anemia, Hereditary Spherocytic Hemolytic

Hypertension, Essential

Essential Hypertension	Hypertension
High Blood Pressure	Hypertension, Essential, Susceptibility To
Hypertensive Disease	Primary Hypertension
EHT	Hypertension, Salt-Sensitive Essential, Susceptibility To
Hyperpiesia	Idiopathic Hypertension
Hypertensive Disorder	Hypertension, Essential, Susceptibility To, 3
Hypertension, Essential 3	Hypertension, Essential, Salt-Sensitive
Hypertension, Essential, Susceptibility To, 6	Hypertension, Essential 6
Hypertension, Salt-Sensitive Essential	Hypertension, Susceptibility To
Hypertension, Essential, Susceptibility To, 4	Hypertension, Essential 4
Hypertension, Essential, Susceptibility To, 2	Hypertension, Essential 2
Hypertension, Essential, Susceptibility To, 1	Hypertension, Essential 1
Hypertension, Essential, Susceptibility To, 5	Hypertension, Essential 5
Htn	Vascular Hypertensive Disorder
Systemic Primary Arterial Hypertension	Hbp - [High Blood Pressure]
Systemic Arterial Hypertensive Disorder	Elevated Blood Pressure
Arterial Hypertension Nos	Hypertension Nos
Benign Hypertension	Systemic Arterial Hypertension
Systemic Hypertension	Artery Htn
Benign Htn	Vascular Htn
Vascular Hypertension	Cholesterol Hypertension
Cholesterol Htn	Idiopathic Htn
Malignant Hypertension	Malignant Htn
Raised Blood Pressure	Cardiovascular Hypertension
Primary Htn - [Hypertension]	High Arterial Tension
High Blood Pressure Disorder	Ht - [Hypertension]
Htn - [Hypertension]	Hypertensive Vascular Disease
Hypertensive Vascular Degeneration

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-RS00340	ADD3 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	ADD3	MGD	MGI:1351615
Canis familiaris	ADD3	VGNC	VGNC:37630
Macaca mulatta	ADD3	VGNC	VGNC:69531
Bos taurus	ADD3	VGNC	VGNC:25655
Felis catus	ADD3	VGNC	VGNC:59626
Rattus norvegicus	ADD3	RGD	RGD:2043

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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）

ADD3 - adducin 3 Gene

关于 ADD3

功能概要

ADD3 基因产物(7)

ADD3 蛋白结构

关联疾病

直系同源

热门区域

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ADD3 - adducin 3 Gene

关于 ADD3

功能概要

ADD3 基因产物(7)

ADD3 蛋白结构

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

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