1. Gene
  2. ADD1 - adducin 1 Gene

ADD1 - adducin 1 Gene

中文名称:内收素 1

种属: Homo sapiens

同用名: ADDA

基因 ID: 118 | 基因类型: protein coding

关于 ADD1

Cytogenetic location: 4p16.3 Genomic coordinates (GRCh38): 4:2,843,844-2,930,062 (from NCBI)

This gene has 29 transcripts (splice variants), 217 orthologues, 2 paralogues and is associated with 1 phenotype. Ubiquitous expression in brain (RPKM 57.3), ovary (RPKM 51.1) and 25 other tissues.

功能概要

内收蛋白是由三个基因 (α、β 和γ) 编码的细胞骨架蛋白家族。 Adducin 充当相关 alpha、beta 或 gamma 亚基的异二聚体。该基因编码的蛋白质代表α亚基。 α-和β-内收蛋白包括一个蛋白酶抗性 N 末端区域和一个蛋白酶敏感的亲水性 C 末端区域。内收蛋白以高亲和力结合 Ca (2+) /钙调蛋白,是蛋白激酶 A 和 C 的底物。[RefSeq 提供,2017 年 8 月]

Adducins are a family of cytoskeletal proteins encoded by three genes (alpha, beta, and gamma). Adducin acts as a heterodimer of the related alpha, beta, or gamma subunits. The protein encoded by this gene represents the alpha subunit. Alpha- and beta-adducin include a protease-resistant N-terminal region and a protease-sensitive, hydrophilic C-terminal region. Adducin binds with high affinity to Ca(2+)/Calmodulin and is a substrate for protein kinases A and C. [provided by RefSeq, Aug 2017]

ADD1 基因产物(13)

mRNA Protein Name
NM_001119.5 NP_001110.2 alpha-adducin isoform a
NM_001286645.2 NP_001273574.1 alpha-adducin isoform e
NM_001354754.2 NP_001341683.1 alpha-adducin isoform a
NM_001354755.2 NP_001341684.1 alpha-adducin isoform a
NM_001354756.2 NP_001341685.1 alpha-adducin isoform f
NM_001354757.2 NP_001341686.1 alpha-adducin isoform c
NM_001354758.2 NP_001341687.1 alpha-adducin isoform c
NM_001354759.2 NP_001341688.1 alpha-adducin isoform e
NM_001354761.2 NP_001341690.1 alpha-adducin isoform g
NM_001354762.2 NP_001341691.1 alpha-adducin isoform h
NM_014189.4 NP_054908.2 alpha-adducin isoform b
NM_014190.4 NP_054909.2 alpha-adducin isoform c
NM_176801.3 NP_789771.1 alpha-adducin isoform d

ADD1 蛋白结构

Aldolase_II

Aldolase_II: Class II Aldolase and Adducin N-terminal domain (147 - 329)

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

alpha-adducin

adducin 1 (alpha)

关联疾病

疾病名称 别名
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

Tracheoesophageal Fistula With Or Without Esophageal Atresia

Esophageal Atresia With Or Without Tracheoesophageal Fistula

Esophageal Atresia

Esophageal Atresia

Tracheoesophageal Fistula

Congenital Atresia Of Esophagus

Congenital Imperforate Esophagus

Imperforate Esophagus

Oesophageal Atresia

Te Fistula

Tef

Tracheoesophageal Fistula With Or Without Esophageal Atresia

Gastroschisis

Laparoschisis

Congenital Fissure Of The Abdominal Cavity

Abdominal Wall Defect

Abdominal Hernia

Hernia, Abdominal

Omphalocele

Abnormality Of The Abdominal Wall

Congenital Omphalocele

Coeloschisis

Coelioschisis

Celoschisis

Congenital Para-Umbilical Hernia

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

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

Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema

Dehydrated Hereditary Stomatocytosis

Hereditary Xerocytosis

Xerocytosis, Hereditary

Pshk1

Pseudohyperkalemia Edinburgh

Dehydrated Hereditary Stomatocytosis With Or Without Pseudohyperkalemia And/Or Perinatal Edema

DHS1

Dhs

Hereditary Desiccytosis

Dehydrated Hereditary Stomatocytosis 1

Desiccytosis, Hereditary

Pseudohyperkalemia, Familial, 1, Due To Red Cell Leak

Pseudohyperkalemia Familial 1, Due To Red Cell Leak

Desiccytosis Hereditary

Xerocytosis Hereditary

Familial Pseudohyperkalemia 1 Due To Red Cell Leak

Stomatocytosis, Dehydrated, Hereditary, With/Without Pseudohyperkalemia And/Or Perinatal Edema

Xerocytosis

Huntington Disease

Huntington'S Disease

Huntington Chorea

Huntington'S Chorea

HD

Huntington Chronic Progressive Hereditary Chorea

Juvenile Huntington Disease

Chronic Progressive Chorea

Chronic Progressive Hereditary Chorea

Hc - [Huntington Chorea]

Hereditary Chorea

Progressive Hereditary Chorea

Hyperlipidemia, Familial Combined, 3

Familial Combined Hyperlipidemia

Combined Hyperlipidemia, Familial

Mixed Hyperlipidaemia

FCHL3

Hyperlipidemia, Familial Combined

Familial Multiple Lipoprotein-Type Hyperlipidemia

Hyperbetalipoproteinemia With Prebetalipoproteinemia

Type Iib Hyperlipoproteinemia

Hyperlipidemia Familial Combined

Hyperlipoproteinemia Type Iib

Mixed Hyperlipemia

Hyperlipidaemia, Group C

Familial Hypercholesterolaemia With Hyperlipaemia

Familial Hyperbetalipoproteinaemia And Hyperprebetalipoproteinaemia

Hyperbetalipoproteinaemia With Prebetalipoproteinaemia

Hypercholesterolaemia With Endogenous Hyperglyceridaemia

Prebetalipoproteinemia Hyperbetalipoproteinaemia

Remnant Hyperlipoproteinemia

Iga Glomerulonephritis

Iga Nephropathy

Glomerulonephritis, Iga

Berger'S Iga Or Igg Nephropathy

Focal Glomerulonephritis

Primary Iga Nephropathy

Segmental Glomerulonephritis

Berger Disease

Berger'S Disease

Igan

Nephritis, Iga Type

Nephropathy Iga

Glomerulonephritis Focal

Iga Nephropathy, Susceptibility To

Primary Immunoglobulin A Nephropathy

Cerebral Palsy

Infantile Cerebral Palsy

Mixed Cerebral Palsy

Palsy Cerebral

Palsy, Cerebral

Cerebral Palsy, Mixed

Myocardial Infarction

Heart Attack

Myocardial Infarction, Susceptibility To

Myocardial Infarction 1

Myocardial Infarction, Protection Against

Myocardial Infarction, Decreased Susceptibility To

Myocardial Infarction, Decreased

Myocardial Infarct

MCI1

Premature Myocardial Infarction

Myocardial Infarction, Susceptibility To, Type 1

Hyperaldosteronism, Familial, Type I

Glucocorticoid-Remediable Aldosteronism

Gra

Familial Hyperaldosteronism Type 1

Hyperaldosteronism, Familial Type 1

HALD1

Fh I

Glucocorticoid-Suppressible Hyperaldosteronism

Gsh

Acth-Dependent Hyperaldosteronism Syndrome

Aldosteronism, Glucocorticoid-Remediable

Dexamethasone Sensitive Hypertension

Glucocorticoid Sensitive Hypertension

Familial Hyperaldosteronism Type I

Fh1

Aldosteronism, Sensitive To Dexamethasone

Dexamethasone-Sensitive Hypertension

Fh-I

Glucocorticoid-Sensitive Hypertension

Hyperaldosteronism, Familial, 1

Aldosteronism Sensitive To Dexamethasone

Familial Hyperaldosteronism 1

Fh Type 1

Familial Aldosteronism Type I

Liddle Syndrome 1

Liddle Syndrome

Pseudoaldosteronism

Liddle'S Syndrome

LIDLS1

Lidls

Pseudohyperaldosteronism

Pseudoprimary Hyperaldosteronism

Pseudohyperaldosteronism Type 1

Liddles Syndrome

Alcohol Dependence

Alcoholism

Alcohol Dependence, Susceptibility To

Alcohol Dependence, Protection Against

Aerodigestive Tract Cancer, Squamous Cell, Alcohol-Related, Protection Against

Alcoholism, Susceptibility To

Alcoholic Intoxication, Chronic

Pharyngeal Neoplasms

Chronic Alcoholism

Dipsomania

Alcohol Addiction

Ethanol Dependence

Chronic Ethanolism

Chronic Alcoholic Disease Nos

Alcoholic Disease Nos

Alcoholic

Stroke, Ischemic

Cerebral Infarction

Stroke

Ischemic Stroke

Cerebrovascular Accident

Cerebral Infarction, Susceptibility To

Stroke, Ischemic, Susceptibility To

Cerebral Infarct

Ischemic Stroke, Susceptibility To

Stroke, Susceptibility To

Cva - Cerebral Infarction

ISCHSTR

Ischemic Cerebrovascular Accident

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

直系同源

种属 基因名 来源 基因 ID
Bos taurus ADD1 VGNC VGNC:25653
Mus musculus ADD1 MGD MGI:87918
Felis catus ADD1 VGNC VGNC:59624
Macaca mulatta ADD1 VGNC VGNC:69528
Rattus norvegicus ADD1 RGD RGD:2041
Canis familiaris ADD1 VGNC VGNC:37628