ADD1 Knowpia

ADD1
Identifiers
Aliases	ADD1, ADDA, adducin 1
External IDs	OMIM: 102680 MGI: 87918 HomoloGene: 22758 GeneCards: ADD1
Gene location (Human)
Chr.	Chromosome 4 (human)
End	2,930,076 bp
Gene location (Mouse)
Chr.	Chromosome 5 (mouse)
End	34,789,652 bp
RNA expression pattern
	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
	; ; ; ;
	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
	118
	11518
	ENSG00000087274
	ENSMUSG00000029106
	P35611
	Q9QYC0
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
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
	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 edit

^ ^a ^b ^c GRCh38: Ensembl release 89: ENSG00000087274 – Ensembl, May 2017
^ ^a ^b ^c GRCm38: Ensembl release 89: ENSMUSG00000029106 – Ensembl, May 2017
^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ 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.
^ ^a ^b "Entrez Gene: ADD1 adducin 1 (alpha)".

External links edit

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

Further reading edit

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.

[refGRCh38Ensembl-1] GRCh38: Ensembl release 89: ENSG00000087274 – Ensembl, May 2017

[refGRCm38Ensembl-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.

[pmid1840603-5] 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.

[entrez-6] "Entrez Gene: ADD1 adducin 1 (alpha)".

[5]

[6]

[1]

[2]

[3]

[4]

Summary

References edit

External links edit

Further reading edit