ADD3

ADD3
Identifiers
Aliases	ADD3 , ADDL, adducin 3, CPSQ3
External IDs	OMIM: 601568 MGI: 1351615 HomoloGene: 40893 GeneCards: ADD3
Gene location (Human) Chr. Chromosome 10 (human) [1] Band 10q25.1-q25.2 Start 109,996,368 bp [1] End 110,135,565 bp [1]
Gene location (Mouse) Chr. Chromosome 19 (mouse) [2] Band 19 D2|19 47.18 cM Start 53,140,443 bp [2] End 53,247,399 bp [2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in secondary oocyte Region I of hippocampus proper corpus callosum external globus pallidus corpus epididymis trigeminal ganglion retinal pigment epithelium subthalamic nucleus caput epididymis spinal ganglia Top expressed in interventricular septum stria vascularis seminal vesicula blood atrium right ventricle spleen left lung lobe right lung lymph node More reference expression data BioGPS More reference expression data
Gene ontology Molecular function structural molecule activity actin binding structural constituent of cytoskeleton calmodulin binding spectrin binding actin filament binding Cellular component condensed nuclear chromosome cytosol plasma membrane cell cortex cytoskeleton membrane brush border nucleoplasm cell-cell junction cytoplasm postsynaptic density plasma membrane raft Biological process transmembrane transport cytoskeleton organization barbed-end actin filament capping actin filament bundle assembly Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 120 27360 Ensembl ENSG00000148700 ENSMUSG00000025026 UniProt Q9UEY8 Q9QYB5 RefSeq (mRNA) NM_001121 NM_016824 NM_019903 NM_001320591 NM_001320592 NM_001320593 NM_001320594 NM_001164099 NM_001164100 NM_001164101 NM_001277100 NM_013758 RefSeq (protein) NP_001112 NP_001307520 NP_001307521 NP_001307522 NP_001307523 NP_058432 NP_063968 NP_001157571 NP_001157572 NP_001157573 NP_001264029 NP_038786 Location (UCSC) Chr 10: 110 – 110.14 Mb Chr 19: 53.14 – 53.25 Mb PubMed search [3] [4]
Wikidata
View/Edit Human View/Edit Mouse

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

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)".

External links

• Human ADD3 genome location and ADD3 gene details page in the UCSC Genome Browser .

Further reading

• Kaiser HW, O'Keefe E, Bennett V (1989). "Adducin: Ca++-dependent association with sites of cell-cell contact". J. Cell Biol. 109 (2): 557–69. doi:10.1083/jcb.109.2.557. PMC   2115715 . PMID   2503523.
• Maruyama K, Sugano S (1994). "Oligo-capping: a simple method to replace the cap structure of eukaryotic mRNAs with oligoribonucleotides". Gene. 138 (1–2): 171–4. doi:10.1016/0378-1119(94)90802-8. PMID   8125298.
• Suzuki Y, Yoshitomo-Nakagawa K, Maruyama K, et al. (1997). "Construction and characterization of a full length-enriched and a 5'-end-enriched cDNA library". Gene. 200 (1–2): 149–56. doi:10.1016/S0378-1119(97)00411-3. PMID   9373149.
• Gilligan DM, Lozovatsky L, Gwynn B, et al. (1999). "Targeted disruption of the β adducin gene (Add2) causes red blood cell spherocytosis in mice". Proc. Natl. Acad. Sci. U.S.A. 96 (19): 10717–22. Bibcode:1999PNAS...9610717G. doi: 10.1073/pnas.96.19.10717 . PMC   17949 . PMID   10485892.
• Citterio L, Azzani T, Duga S, Bianchi G (2000). "Genomic organization of the human gamma adducin gene". Biochem. Biophys. Res. Commun. 266 (1): 110–4. doi:10.1006/bbrc.1999.1769. PMID   10581174.
• Gilligan DM, Sarid R, Weese J (2002). "Adducin in platelets: activation-induced phosphorylation by PKC and proteolysis by calpain". Blood. 99 (7): 2418–26. doi: 10.1182/blood.V99.7.2418 . PMID   11895774.
• Strausberg RL, Feingold EA, Grouse LH, et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. Bibcode:2002PNAS...9916899M. doi: 10.1073/pnas.242603899 . PMC   139241 . PMID   12477932.
• Gerhard DS, Wagner L, Feingold EA, et al. (2004). "The Status, Quality, and Expansion of the NIH Full-Length cDNA Project: The Mammalian Gene Collection (MGC)". Genome Res. 14 (10B): 2121–7. doi:10.1101/gr.2596504. PMC   528928 . PMID   15489334.
• Gocke CB, Yu H, Kang J (2005). "Systematic identification and analysis of mammalian small ubiquitin-like modifier substrates". J. Biol. Chem. 280 (6): 5004–12. doi: 10.1074/jbc.M411718200 . PMID   15561718.
• Lanzani C, Citterio L, Jankaricova M, et al. (2005). "Role of the adducin family genes in human essential hypertension". J. Hypertens. 23 (3): 543–9. doi:10.1097/01.hjh.0000160210.48479.78. PMID   15716695. S2CID   37253591.
• Yenerel MN, Sundell IB, Weese J, et al. (2005). "Expression of adducin genes during erythropoiesis: a novel erythroid promoter for ADD2". Exp. Hematol. 33 (7): 758–66. doi: 10.1016/j.exphem.2005.03.015 . PMID   15963851.
• Olsen JV, Blagoev B, Gnad F, et al. (2006). "Global, in vivo, and site-specific phosphorylation dynamics in signaling networks". Cell. 127 (3): 635–48. doi: 10.1016/j.cell.2006.09.026 . PMID   17081983. S2CID   7827573.