ADD1 - adducin 1 Gene

Also Known as ADDA

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 118

About 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.

Summary

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 Products (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
Molecular Function GO Annotation Evidence Referencias Source
enables RNA polymerase II-specific DNA-binding transcription factor binding IPI
IPI: Inferred from physical interaction
16289097 GOA
enables actin filament binding IDA
IDA: Inferred from direct assay
7642559 GOA
enables protein binding IPI
IPI: Inferred from physical interaction
25416956 GOA
enables protein dimerization activity IPI
IPI: Inferred from physical interaction
7642559 GOA
enables protein heterodimerization activity IPI
IPI: Inferred from physical interaction
7642559 GOA
enables protein homodimerization activity IPI
IPI: Inferred from physical interaction
7642559 GOA
enables spectrin binding IDA
IDA: Inferred from direct assay
7642559 GOA
Biological Process GO Annotation Evidence Referencias Source
involved in actin filament bundle assembly IDA
IDA: Inferred from direct assay
3693401 GOA
involved in barbed-end actin filament capping IDA
IDA: Inferred from direct assay
8626479 GOA
involved in cellular response to calcium ion IDA
IDA: Inferred from direct assay
25978380 GOA
involved in positive regulation of adherens junction organization IDA
IDA: Inferred from direct assay
25978380 GOA
involved in positive regulation of establishment of endothelial barrier IDA
IDA: Inferred from direct assay
25978380 GOA
involved in positive regulation of protein binding IDA
IDA: Inferred from direct assay
3693401 GOA
Cellular Component GO Annotation Evidence Referencias Source
part of F-actin capping protein complex IDA
IDA: Inferred from direct assay
8626479 GOA
located in adherens junction IDA
IDA: Inferred from direct assay
25978380 GOA
located in cytoplasm IDA
IDA: Inferred from direct assay
25978380 GOA
located in nucleus IDA
IDA: Inferred from direct assay
16289097 GOA
colocalizes with plasma membrane IDA
IDA: Inferred from direct assay
25978380 GOA
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

ADD1 Protein Structure

Aldolase_II

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

  • 0
  • 200
  • 400
  • 600
  • 737 a.a.
Protein Preferred Names Protein Names

alpha-adducin

  • adducin 1 (alpha)

Related Diseases

Diseases Alias
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

Diseases Alias
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

Orthologs Information

Species Symbol Source 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