ADD1

ADD1
Identifiers
Aliases	ADD1 , ADDA, adducin 1
External IDs	OMIM: 102680 MGI: 87918 HomoloGene: 22758 GeneCards: ADD1
Gene location (Human) Chr. Chromosome 4 (human) [1] Band 4p16.3 Start 2,843,844 bp [1] End 2,930,076 bp [1]
Gene location (Mouse) Chr. Chromosome 5 (mouse) [2] Band 5 B2|5 17.9 cM Start 34,731,008 bp [2] End 34,789,652 bp [2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in tibial nerve sural nerve putamen right lung caudate nucleus Brodmann area 9 prefrontal cortex nucleus accumbens amygdala popliteal artery Top expressed in superior frontal gyrus external carotid artery internal carotid artery Region I of hippocampus proper trigeminal ganglion cingulate gyrus cerebellar cortex sciatic nerve hippocampus proper temporal lobe More reference expression data BioGPS More reference expression data
Gene ontology Molecular function spectrin binding protein homodimerization activity transcription factor binding structural molecule activity calmodulin binding actin filament binding protein binding protein heterodimerization activity actin binding RNA binding cadherin binding Cellular component F-actin capping protein complex cytosol membrane focal adhesion plasma membrane nucleoplasm cytoskeleton nucleus nuclear body cytoplasm postsynaptic density plasma membrane raft Biological process cell volume homeostasis multicellular organism growth barbed-end actin filament capping in utero embryonic development actin filament bundle assembly IRE1-mediated unfolded protein response transmembrane transport cell morphogenesis erythrocyte differentiation homeostasis of number of cells within a tissue positive regulation of protein binding actin cytoskeleton organization hemoglobin metabolic process cellular response to calcium ion positive regulation of establishment of endothelial barrier positive regulation of adherens junction organization Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 118 11518 Ensembl ENSG00000087274 ENSMUSG00000029106 UniProt P35611 Q9QYC0 RefSeq (mRNA) NM_001119 NM_001286645 NM_014189 NM_014190 NM_176801 NM_001354754 NM_001354755 NM_001354756 NM_001354757 NM_001354759 NM_001354761 NM_001354762 NM_001354758 NM_001024458 NM_001102444 NM_013457 NM_001331080 NM_001331081 NM_001331082 NM_001331083 NM_001331084 NM_001331085 NM_001331086 NM_001331087 RefSeq (protein) NP_001110 NP_001273574 NP_054908 NP_054909 NP_789771 NP_001341683 NP_001341684 NP_001341685 NP_001341686 NP_001341688 NP_001341690 NP_001341691 NP_001341687 NP_001019629 NP_001095914 NP_001318009 NP_001318010 NP_001318011 NP_001318012 NP_001318013 NP_001318014 NP_001318015 NP_001318016 NP_038485 Location (UCSC) Chr 4: 2.84 – 2.93 Mb Chr 5: 34.73 – 34.79 Mb PubMed search [3] [4]
Wikidata
View/Edit Human View/Edit Mouse

Alpha-adducin is a protein that in humans is encoded by the ADD1 gene. ^{[5] [6]}

Adducins are a family of cytoskeleton proteins encoded by three genes (alpha, beta, gamma). Adducin is a heterodimeric protein that consists of related subunits, which are produced from distinct genes but share a similar structure. Alpha- and beta-adducin include a protease-resistant N-terminal region and a protease-sensitive, hydrophilic C-terminal region. Alpha- and gamma-adducins are ubiquitously expressed. In contrast, beta-adducin is expressed at high levels in brain and hematopoietic tissues. Adducin binds with high affinity to Ca(2+)/calmodulin and is a substrate for protein kinases A and C. Alternative splicing results in multiple variants encoding distinct isoforms; however, not all variants have been fully described. Polymorphism in ADD1 is associated with hypertension. ^[6]

References

1. GRCh38: Ensembl release 89: ENSG00000087274 - Ensembl, May 2017
2. GRCm38: Ensembl release 89: ENSMUSG00000029106 - 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. Joshi R, Gilligan DM, Otto E, McLaughlin T, Bennett V (Nov 1991). "Primary structure and domain organization of human alpha and beta adducin". J Cell Biol. 115 (3): 665–75. doi:10.1083/jcb.115.3.665. PMC   2289184 . PMID   1840603.
6. "Entrez Gene: ADD1 adducin 1 (alpha)".

External links

• Human ADD1 genome location and ADD1 gene details page in the UCSC Genome Browser .

Further reading

• Mangeat PH (1989). "Interaction of biological membranes with the cytoskeletal framework of living cells". Biol. Cell. 64 (3): 261–81. doi:10.1016/0248-4900(88)90001-9. PMID   2976282. S2CID   3030663.
• Matsuoka Y, Li X, Bennett V (2000). "Adducin: structure, function and regulation". Cell. Mol. Life Sci. 57 (6): 884–95. doi:10.1007/PL00000731. PMID   10950304. S2CID   29317393.
• Goldberg YP, Lin BY, Andrew SE, et al. (1993). "Cloning and mapping of the alpha-adducin gene close to D4S95 and assessment of its relationship to Huntington disease". Hum. Mol. Genet. 1 (9): 669–75. doi:10.1093/hmg/1.9.669. PMID   1284592.
• Taylor SA, Snell RG, Buckler A, et al. (1994). "Cloning of the alpha-adducin gene from the Huntington's disease candidate region of chromosome 4 by exon amplification". Nat. Genet. 2 (3): 223–7. doi:10.1038/ng1192-223. PMID   1345173. S2CID   21772716.
• Gardner K, Bennett V (1987). "Modulation of spectrin-actin assembly by erythrocyte adducin". Nature. 328 (6128): 359–62. Bibcode:1987Natur.328..359G. doi:10.1038/328359a0. PMID   3600811. S2CID   4304432.
• Gilligan DM, Lieman J, Bennett V (1996). "Assignment of the human beta-adducin gene (ADD2) to 2p13-p14 by in situ hybridization". Genomics. 28 (3): 610–2. doi: 10.1006/geno.1995.1205 . PMID   7490111.
• Lin B, Nasir J, McDonald H, et al. (1995). "Genomic organization of the human alpha-adducin gene and its alternately spliced isoforms". Genomics. 25 (1): 93–9. doi:10.1016/0888-7543(95)80113-Z. PMID   7774961.
• Nasir J, Lin B, Bucan M, et al. (1994). "The murine homologues of the Huntington disease gene (Hdh) and the alpha-adducin gene (Add1) map to mouse chromosome 5 within a region of conserved synteny with human chromosome 4p16.3". Genomics. 22 (1): 198–201. doi: 10.1006/geno.1994.1361 . PMID   7959767.
• Kuhlman PA, Hughes CA, Bennett V, Fowler VM (1996). "A new function for adducin. Calcium/calmodulin-regulated capping of the barbed ends of actin filaments". J. Biol. Chem. 271 (14): 7986–91. doi: 10.1074/jbc.271.14.7986 . PMID   8626479.
• Li X, Bennett V (1996). "Identification of the spectrin subunit and domains required for formation of spectrin/adducin/actin complexes". J. Biol. Chem. 271 (26): 15695–702. doi: 10.1074/jbc.271.26.15695 . PMID   8663089.
• Matsuoka Y, Hughes CA, Bennett V (1996). "Adducin regulation. Definition of the calmodulin-binding domain and sites of phosphorylation by protein kinases A and C". J. Biol. Chem. 271 (41): 25157–66. doi: 10.1074/jbc.271.41.25157 . PMID   8810272.
• Hadano S, Ishida Y, Tomiyasu H, et al. (1997). "Transcript map of the human chromosome 4p16.3 consisting of 627 cDNA clones derived from 1 Mb of the Huntington's disease locus". DNA Res. 3 (4): 239–55. doi: 10.1093/dnares/3.4.239 . PMID   8946164.
• Cusi D, Barlassina C, Azzani T, et al. (1997). "Polymorphisms of alpha-adducin and salt sensitivity in patients with essential hypertension". Lancet. 349 (9062): 1353–7. doi:10.1016/S0140-6736(97)01029-5. PMID   9149697. S2CID   54358840.
• Kamitani A, Wong ZY, Fraser R, et al. (1998). "Human alpha-adducin gene, blood pressure, and sodium metabolism". Hypertension. 32 (1): 138–43. doi:10.1161/01.HYP.32.1.138. PMID   9674650.
• Matsuoka Y, Li X, Bennett V (1998). "Adducin is an in vivo substrate for protein kinase C: phosphorylation in the MARCKS-related domain inhibits activity in promoting spectrin-actin complexes and occurs in many cells, including dendritic spines of neurons". J. Cell Biol. 142 (2): 485–97. doi:10.1083/jcb.142.2.485. PMC   2133059 . PMID   9679146.
• Fukata Y, Oshiro N, Kinoshita N, et al. (1999). "Phosphorylation of adducin by Rho-kinase plays a crucial role in cell motility". J. Cell Biol. 145 (2): 347–61. doi:10.1083/jcb.145.2.347. PMC   2133101 . PMID   10209029.
• Halushka MK, Fan JB, Bentley K, et al. (1999). "Patterns of single-nucleotide polymorphisms in candidate genes for blood-pressure homeostasis". Nat. Genet. 22 (3): 239–47. doi:10.1038/10297. PMID   10391210. S2CID   4636523.
• Ferrandi M, Salardi S, Tripodi G, et al. (1999). "Evidence for an interaction between adducin and Na(+)-K(+)-ATPase: relation to genetic hypertension". Am. J. Physiol. 277 (4 Pt 2): H1338–49. doi:10.1152/ajpheart.1999.277.4.H1338. PMID   10516168. S2CID   4474240.