ADD3 - adducin 3 Gene

Homo sapiens

Also known as ADDL; CPSQ3

Gene ID: 120 | Gene type: protein coding

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

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

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS00340	ADD3 Human Pre-designed siRNA Set A		/	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