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Protein-coding gene in the species Homo sapiens

ADD3

ADD3
All data from the card 17
Aliases
ADD3, ADDL, adducin 3, CPSQ3
External IDs
OMIM: 601568; MGI: 1351615; GeneCards: ADD3
Chr.
Chromosome 10 (human)
Band
10q25.1-q25.2
End
110,135,565 bp
Chr.
Chromosome 19 (mouse)
Band
19 D2|19 47.18 cM
End
53,247,399 bp
BioGPS
More reference expression data
Databases
NCBI: entry; OMA: entry
Species
Human
Entrez
120
Ensembl
ENSG00000148700
UniProt
Q9UEY8
RefSeq (mRNA)
NM_001121NM_016824NM_019903NM_001320591NM_001320592NM_001320593NM_001320594
RefSeq (protein)
NP_001112NP_001307520NP_001307521NP_001307522NP_001307523NP_058432NP_063968
Location (UCSC)
Chr 10: 110 – 110.14 Mb

Gamma-adducin is a protein that in humans is encoded by the ADD3 gene.

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 composed 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.

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Text from Wikipedia, CC BY-SA 4.0 · Source article