ADD3 - adducin 3 Gene

Also Known as ADDL; CPSQ3

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 120

About 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.

Summary

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 Products (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 Protein Structure

Aldolase_II

Aldolase_II: Class II Aldolase and Adducin N-terminal domain (139 - 321)

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

gamma-adducin

  • adducin 3 (gamma)

Related Diseases

Diseases Alias
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
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

Related Agents

  • Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (1)
Cat. No. Product Name
Effect
Purity
Rare Diseases
HY-RS00340 ADD3 Human Pre-designed siRNA Set A Pre-designed Set / Unkown

Orthologs Information

Species Symbol Source 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
Others ADD3 NCBI