ADD3

Gamma-adducin is a protein that in humans is encoded by the ADD3 gene.[5][6]

ADD3
Identifiers
AliasesADD3, ADDL, adducin 3, CPSQ3
External IDsOMIM: 601568 MGI: 1351615 HomoloGene: 40893 GeneCards: ADD3
Orthologs
SpeciesHumanMouse
Entrez

120

27360

Ensembl

ENSG00000148700

ENSMUSG00000025026

UniProt

Q9UEY8

Q9QYB5

RefSeq (mRNA)

NM_001164099
NM_001164100
NM_001164101
NM_001277100
NM_013758

RefSeq (protein)

NP_001157571
NP_001157572
NP_001157573
NP_001264029
NP_038786

Location (UCSC)Chr 10: 110 – 110.14 MbChr 19: 53.14 – 53.25 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

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.[6]

References

  1. GRCh38: Ensembl release 89: ENSG00000148700 - Ensembl, May 2017
  2. GRCm38: Ensembl release 89: ENSMUSG00000025026 - Ensembl, May 2017
  3. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. Katagiri T, Ozaki K, Fujiwara T, Shimizu F, Kawai A, Okuno S, Suzuki M, Nakamura Y, Takahashi E, Hirai Y (Dec 1996). "Cloning, expression and chromosome mapping of adducin-like 70 (ADDL), a human cDNA highly homologous to human erythrocyte adducin". Cytogenet Cell Genet. 74 (1–2): 90–5. doi:10.1159/000134389. PMID 8893809.
  6. "Entrez Gene: ADD3 adducin 3 (gamma)".

Further reading


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