Alpha actinins belong to the spectrin gene superfamily which represents a diverse group of cytoskeletal proteins, including the alpha and beta spectrins and dystrophins. Alpha actinin is an actin-binding protein with multiple roles in different cell types. In nonmuscle cells, the cytoskeletal isoform is found along microfilament bundles and adherens-type junctions, where it is involved in binding actin to the membrane. In contrast, skeletal, cardiac, and smooth muscle isoforms are localized to the Z-disc and analogous dense bodies, where they help anchor the myofibrillar actin filaments. This gene encodes a nonmuscle, alpha actinin isoform which is concentrated in the cytoplasm, and thought to be involved in metastatic processes. Mutations in this gene have been associated with focal and segmental glomerulosclerosis.[5]
^Rual JF, Venkatesan Kavitha, Hao Tong, Hirozane-Kishikawa Tomoko, Dricot Amélie, Li Ning, Berriz Gabriel F, Gibbons Francis D, Dreze Matija, Ayivi-Guedehoussou Nono, Klitgord Niels, Simon Christophe, Boxem Mike, Milstein Stuart, Rosenberg Jennifer, Goldberg Debra S, Zhang Lan V, Wong Sharyl L, Franklin Giovanni, Li Siming, Albala Joanna S, Lim Janghoo, Fraughton Carlene, Llamosas Estelle, Cevik Sebiha, Bex Camille, Lamesch Philippe, Sikorski Robert S, Vandenhaute Jean, Zoghbi Huda Y, Smolyar Alex, Bosak Stephanie, Sequerra Reynaldo, Doucette-Stamm Lynn, Cusick Michael E, Hill David E, Roth Frederick P, Vidal Marc (Oct 2005). "Towards a proteome-scale map of the human protein-protein interaction network". Nature. 437 (7062). England: 1173–8. Bibcode:2005Natur.437.1173R. doi:10.1038/nature04209. PMID 16189514. S2CID 4427026.
^Vallenius T, Luukko K, Mäkelä T P (Apr 2000). "CLP-36 PDZ-LIM protein associates with nonmuscle alpha-actinin-1 and alpha-actinin-4". J. Biol. Chem. 275 (15). UNITED STATES: 11100–5. doi:10.1074/jbc.275.15.11100. ISSN 0021-9258. PMID 10753915.
^Kim JH, Lee-Kwon Whaseon, Park Jong Bae, Ryu Sung Ho, Yun C H Chris, Donowitz Mark (Jun 2002). "Ca(2+)-dependent inhibition of Na+/H+ exchanger 3 (NHE3) requires an NHE3-E3KARP-alpha-actinin-4 complex for oligomerization and endocytosis". J. Biol. Chem. 277 (26). United States: 23714–24. doi:10.1074/jbc.M200835200. ISSN 0021-9258. PMID 11948184.
^Gonzalez AM, Otey C, Edlund M, Jones J C (Dec 2001). "Interactions of a hemidesmosome component and actinin family members". J. Cell Sci. 114 (Pt 23). England: 4197–206. doi:10.1242/jcs.114.23.4197. ISSN 0021-9533. PMID 11739652.
^ abWalikonis RS, Oguni A, Khorosheva E M, Jeng C J, Asuncion F J, Kennedy M B (Jan 2001). "Densin-180 forms a ternary complex with the (alpha)-subunit of Ca2+/calmodulin-dependent protein kinase II and (alpha)-actinin". J. Neurosci. 21 (2). United States: 423–33. doi:10.1523/JNEUROSCI.21-02-00423.2001. PMC6763799. PMID 11160423.
^Patrie KM, Drescher Andrew J, Welihinda Ajith, Mundel Peter, Margolis Ben (Aug 2002). "Interaction of two actin-binding proteins, synaptopodin and alpha-actinin-4, with the tight junction protein MAGI-1". J. Biol. Chem. 277 (33). United States: 30183–90. doi:10.1074/jbc.M203072200. ISSN 0021-9258. PMID 12042308.
^El-Husseini AE, Kwasnicka D, Yamada T, Hirohashi S, Vincent S R (Jan 2000). "BERP, a novel ring finger protein, binds to alpha-actinin-4". Biochem. Biophys. Res. Commun. 267 (3). UNITED STATES: 906–11. doi:10.1006/bbrc.1999.2045. ISSN 0006-291X. PMID 10673389.
Further readingedit
Dawson SJ, White LA (1992). "Treatment of Haemophilus aphrophilus endocarditis with ciprofloxacin". J. Infect. 24 (3): 317–20. doi:10.1016/S0163-4453(05)80037-4. PMID 1602151.
Yürüker B, Niggli V (1992). "Alpha-actinin and vinculin in human neutrophils: reorganization during adhesion and relation to the actin network". J. Cell Sci. 101. ( Pt 2) (2): 403–14. doi:10.1242/jcs.101.2.403. PMID 1629252.
Otey CA, Pavalko FM, Burridge K (1990). "An interaction between alpha-actinin and the beta 1 integrin subunit in vitro". J. Cell Biol. 111 (2): 721–9. doi:10.1083/jcb.111.2.721. PMC2116186. PMID 2116421.
Pavalko FM, LaRoche SM (1993). "Activation of human neutrophils induces an interaction between the integrin beta 2-subunit (CD18) and the actin binding protein alpha-actinin". J. Immunol. 151 (7): 3795–807. doi:10.4049/jimmunol.151.7.3795. PMID 8104223. S2CID 32574143.
Mathis BJ, Kim SH, Calabrese K, et al. (1998). "A locus for inherited focal segmental glomerulosclerosis maps to chromosome 19q13". Kidney Int. 53 (2): 282–6. doi:10.1046/j.1523-1755.1998.00828.x. PMID 9461087.
Honda K, Yamada T, Endo R, et al. (1998). "Actinin-4, a novel actin-bundling protein associated with cell motility and cancer invasion". J. Cell Biol. 140 (6): 1383–93. doi:10.1083/jcb.140.6.1383. PMC2132673. PMID 9508771.
Zhang H, Wang L, Kao S, et al. (1999). "Functional interaction between the cytoplasmic leucine-zipper domain of HIV-1 gp41 and p115-RhoGEF". Curr. Biol. 9 (21): 1271–4. Bibcode:1999CBio....9.1271Z. doi:10.1016/S0960-9822(99)80511-9. PMC4513661. PMID 10556093.
Nikolopoulos SN, Spengler BA, Kisselbach K, et al. (2000). "The human non-muscle alpha-actinin protein encoded by the ACTN4 gene suppresses tumorigenicity of human neuroblastoma cells". Oncogene. 19 (3): 380–6. doi:10.1038/sj.onc.1203310. PMID 10656685.
El-Husseini AE, Kwasnicka D, Yamada T, et al. (2000). "BERP, a novel ring finger protein, binds to alpha-actinin-4". Biochem. Biophys. Res. Commun. 267 (3): 906–11. doi:10.1006/bbrc.1999.2045. PMID 10673389.
Kaplan JM, Kim SH, North KN, et al. (2000). "Mutations in ACTN4, encoding alpha-actinin-4, cause familial focal segmental glomerulosclerosis". Nat. Genet. 24 (3): 251–6. doi:10.1038/73456. PMID 10700177. S2CID 36426082.
Vallenius T, Luukko K, Mäkelä TP (2000). "CLP-36 PDZ-LIM protein associates with nonmuscle alpha-actinin-1 and alpha-actinin-4". J. Biol. Chem. 275 (15): 11100–5. doi:10.1074/jbc.275.15.11100. PMID 10753915.
Holliday LS, Lu M, Lee BS, et al. (2000). "The amino-terminal domain of the B subunit of vacuolar H+-ATPase contains a filamentous actin binding site". J. Biol. Chem. 275 (41): 32331–7. doi:10.1074/jbc.M004795200. PMID 10915794.
Walikonis RS, Oguni A, Khorosheva EM, et al. (2001). "Densin-180 forms a ternary complex with the (alpha)-subunit of Ca2+/calmodulin-dependent protein kinase II and (alpha)-actinin". J. Neurosci. 21 (2): 423–33. doi:10.1523/JNEUROSCI.21-02-00423.2001. PMC6763799. PMID 11160423.
Echchakir H, Mami-Chouaib F, Vergnon I, et al. (2001). "A point mutation in the alpha-actinin-4 gene generates an antigenic peptide recognized by autologous cytolytic T lymphocytes on a human lung carcinoma". Cancer Res. 61 (10): 4078–83. PMID 11358829.
Xu F, Zhao R, Peng Y, et al. (2001). "Association of tyrosine phosphatase SHP-2 with F-actin at low cell densities". J. Biol. Chem. 276 (31): 29479–84. doi:10.1074/jbc.M104428200. PMID 11382784.
Hüttelmaier S, Illenberger S, Grosheva I, et al. (2002). "Raver1, a dual compartment protein, is a ligand for PTB/hnRNPI and microfilament attachment proteins". J. Cell Biol. 155 (5): 775–86. doi:10.1083/jcb.200105044. PMC2150882. PMID 11724819.
Renoult C, Blondin L, Fattoum A, et al. (2002). "Binding of gelsolin domain 2 to actin. An actin interface distinct from that of gelsolin domain 1 and from ADF/cofilin". Eur. J. Biochem. 268 (23): 6165–75. doi:10.1046/j.0014-2956.2001.02574.x. PMID 11733011.
Gonzalez AM, Otey C, Edlund M, Jones JC (2002). "Interactions of a hemidesmosome component and actinin family members". J. Cell Sci. 114 (Pt 23): 4197–206. doi:10.1242/jcs.114.23.4197. PMID 11739652.
Lukoyanova N, VanLoock MS, Orlova A, et al. (2002). "Each actin subunit has three nebulin binding sites: implications for steric blocking". Curr. Biol. 12 (5): 383–8. Bibcode:2002CBio...12..383L. doi:10.1016/S0960-9822(02)00678-4. PMID 11882289. S2CID 15397046.
Kim JH, Lee-Kwon W, Park JB, et al. (2002). "Ca(2+)-dependent inhibition of Na+/H+ exchanger 3 (NHE3) requires an NHE3-E3KARP-alpha-actinin-4 complex for oligomerization and endocytosis". J. Biol. Chem. 277 (26): 23714–24. doi:10.1074/jbc.M200835200. PMID 11948184.
External linksedit
Human ACTN4 genome location and ACTN4 gene details page in the UCSC Genome Browser.
April 12, 2024
alpha, actinin, protein, that, humans, encoded, actn4, gene, actn4available, structurespdbortholog, search, pdbe, rcsblist, codes1wlx, 1ydi, 2r0oidentifiersaliasesactn4, actinin, fsgs, fsgs1, actinin, alpha, 4external, idsomim, 604638, 1890773, homologene, 558. Alpha actinin 4 is a protein that in humans is encoded by the ACTN4 gene 5 ACTN4Available structuresPDBOrtholog search PDBe RCSBList of PDB id codes1WLX 1YDI 2R0OIdentifiersAliasesACTN4 ACTININ 4 FSGS FSGS1 Actinin alpha 4External IDsOMIM 604638 MGI 1890773 HomoloGene 55857 GeneCards ACTN4Gene location Human Chr Chromosome 19 human 1 Band19q13 2Start38 647 649 bp 1 End38 731 589 bp 1 Gene location Mouse Chr Chromosome 7 mouse 2 Band7 7 B1Start28 592 673 bp 2 End28 661 765 bp 2 RNA expression patternBgeeHumanMouse ortholog Top expressed inpopliteal arterysmooth muscle tissueright coronary arterystromal cell of endometriumascending aortaplacentaislet of Langerhansmyometriumleft coronary arteryduodenumTop expressed incorneal stromapyloric antrumlipinternal carotid arteryconjunctival fornixexternal carotid arteryileumyolk sachair folliclePaneth cellMore reference expression dataBioGPSMore reference expression dataGene ontologyMolecular functionmetal ion binding calcium ion binding actin binding protein containing complex binding RNA polymerase II transcription regulatory region sequence specific DNA binding protein homodimerization activity protein N terminus binding nucleoside binding transmembrane transporter binding nuclear receptor coactivator activity integrin binding retinoic acid receptor binding chromatin DNA binding protein binding actin filament binding RNA binding transcription coactivator activityCellular componentextracellular exosome extracellular region brush border pseudopodium cytoplasm actin cytoskeleton cell junction nucleus stress fiber cell cell junction neuron projection focal adhesion platelet alpha granule lumen intracellular anatomical structure Z disc perinuclear region of cytoplasm cortical cytoskeleton extracellular space cytosol nuclear body cytoskeleton protein containing complex ribonucleoprotein complexBiological processresponse to hypoxia vesicle transport along actin filament actin filament bundle assembly positive regulation of NIK NF kappaB signaling regulation of apoptotic process positive regulation of cell migration bicellular tight junction assembly positive regulation of sodium proton antiporter activity protein localization to bicellular tight junction platelet degranulation positive regulation of pinocytosis retinoic acid receptor signaling pathway regulation of nucleic acid templated transcription protein transport peroxisome proliferator activated receptor signaling pathway negative regulation of substrate adhesion dependent cell spreading transport tumor necrosis factor mediated signaling pathway positive regulation of nucleic acid templated transcriptionSources Amigo QuickGOOrthologsSpeciesHumanMouseEntrez8160595EnsemblENSG00000130402ENSG00000282844ENSMUSG00000054808UniProtO43707P57780RefSeq mRNA NM 004924NM 001322033NM 021895NM 001360548NM 001360549NM 001360550RefSeq protein NP 001308962NP 004915NP 068695NP 001347477NP 001347478NP 001347479Location UCSC Chr 19 38 65 38 73 MbChr 7 28 59 28 66 MbPubMed search 3 4 WikidataView Edit HumanView Edit MouseAlpha actinins belong to the spectrin gene superfamily which represents a diverse group of cytoskeletal proteins including the alpha and beta spectrins and dystrophins Alpha actinin is an actin binding protein with multiple roles in different cell types In nonmuscle cells the cytoskeletal isoform is found along microfilament bundles and adherens type junctions where it is involved in binding actin to the membrane In contrast skeletal cardiac and smooth muscle isoforms are localized to the Z disc and analogous dense bodies where they help anchor the myofibrillar actin filaments This gene encodes a nonmuscle alpha actinin isoform which is concentrated in the cytoplasm and thought to be involved in metastatic processes Mutations in this gene have been associated with focal and segmental glomerulosclerosis 5 Contents 1 Interactions 2 See also 3 References 4 Further reading 5 External linksInteractions editAlpha actinin 4 has been shown to interact with PDLIM1 6 7 Sodium hydrogen exchange regulatory cofactor 2 8 Collagen type XVII alpha 1 9 CAMK2A 10 CAMK2B 10 MAGI1 11 and TRIM3 12 See also editFocal segmental glomerulosclerosisReferences edit a b c ENSG00000282844 GRCh38 Ensembl release 89 ENSG00000130402 ENSG00000282844 Ensembl May 2017 a b c GRCm38 Ensembl release 89 ENSMUSG00000054808 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 a b Entrez Gene ACTN4 actinin alpha 4 Rual JF Venkatesan Kavitha Hao Tong Hirozane Kishikawa Tomoko Dricot Amelie Li Ning Berriz Gabriel F Gibbons Francis D Dreze Matija Ayivi Guedehoussou Nono Klitgord Niels Simon Christophe Boxem Mike Milstein Stuart Rosenberg Jennifer Goldberg Debra S Zhang Lan V Wong Sharyl L Franklin Giovanni Li Siming Albala Joanna S Lim Janghoo Fraughton Carlene Llamosas Estelle Cevik Sebiha Bex Camille Lamesch Philippe Sikorski Robert S Vandenhaute Jean Zoghbi Huda Y Smolyar Alex Bosak Stephanie Sequerra Reynaldo Doucette Stamm Lynn Cusick Michael E Hill David E Roth Frederick P Vidal Marc Oct 2005 Towards a proteome scale map of the human protein protein interaction network Nature 437 7062 England 1173 8 Bibcode 2005Natur 437 1173R doi 10 1038 nature04209 PMID 16189514 S2CID 4427026 Vallenius T Luukko K Makela T P Apr 2000 CLP 36 PDZ LIM protein associates with nonmuscle alpha actinin 1 and alpha actinin 4 J Biol Chem 275 15 UNITED STATES 11100 5 doi 10 1074 jbc 275 15 11100 ISSN 0021 9258 PMID 10753915 Kim JH Lee Kwon Whaseon Park Jong Bae Ryu Sung Ho Yun C H Chris Donowitz Mark Jun 2002 Ca 2 dependent inhibition of Na H exchanger 3 NHE3 requires an NHE3 E3KARP alpha actinin 4 complex for oligomerization and endocytosis J Biol Chem 277 26 United States 23714 24 doi 10 1074 jbc M200835200 ISSN 0021 9258 PMID 11948184 Gonzalez AM Otey C Edlund M Jones J C Dec 2001 Interactions of a hemidesmosome component and actinin family members J Cell Sci 114 Pt 23 England 4197 206 doi 10 1242 jcs 114 23 4197 ISSN 0021 9533 PMID 11739652 a b Walikonis RS Oguni A Khorosheva E M Jeng C J Asuncion F J Kennedy M B Jan 2001 Densin 180 forms a ternary complex with the alpha subunit of Ca2 calmodulin dependent protein kinase II and alpha actinin J Neurosci 21 2 United States 423 33 doi 10 1523 JNEUROSCI 21 02 00423 2001 PMC 6763799 PMID 11160423 Patrie KM Drescher Andrew J Welihinda Ajith Mundel Peter Margolis Ben Aug 2002 Interaction of two actin binding proteins synaptopodin and alpha actinin 4 with the tight junction protein MAGI 1 J Biol Chem 277 33 United States 30183 90 doi 10 1074 jbc M203072200 ISSN 0021 9258 PMID 12042308 El Husseini AE Kwasnicka D Yamada T Hirohashi S Vincent S R Jan 2000 BERP a novel ring finger protein binds to alpha actinin 4 Biochem Biophys Res Commun 267 3 UNITED STATES 906 11 doi 10 1006 bbrc 1999 2045 ISSN 0006 291X PMID 10673389 Further reading editDawson SJ White LA 1992 Treatment of Haemophilus aphrophilus endocarditis with ciprofloxacin J Infect 24 3 317 20 doi 10 1016 S0163 4453 05 80037 4 PMID 1602151 Yuruker B Niggli V 1992 Alpha actinin and vinculin in human neutrophils reorganization during adhesion and relation to the actin network J Cell Sci 101 Pt 2 2 403 14 doi 10 1242 jcs 101 2 403 PMID 1629252 Otey CA Pavalko FM Burridge K 1990 An interaction between alpha actinin and the beta 1 integrin subunit in vitro J Cell Biol 111 2 721 9 doi 10 1083 jcb 111 2 721 PMC 2116186 PMID 2116421 Pavalko FM LaRoche SM 1993 Activation of human neutrophils induces an interaction between the integrin beta 2 subunit CD18 and the actin binding protein alpha actinin J Immunol 151 7 3795 807 doi 10 4049 jimmunol 151 7 3795 PMID 8104223 S2CID 32574143 Mathis BJ Kim SH Calabrese K et al 1998 A locus for inherited focal segmental glomerulosclerosis maps to chromosome 19q13 Kidney Int 53 2 282 6 doi 10 1046 j 1523 1755 1998 00828 x PMID 9461087 Honda K Yamada T Endo R et al 1998 Actinin 4 a novel actin bundling protein associated with cell motility and cancer invasion J Cell Biol 140 6 1383 93 doi 10 1083 jcb 140 6 1383 PMC 2132673 PMID 9508771 Zhang H Wang L Kao S et al 1999 Functional interaction between the cytoplasmic leucine zipper domain of HIV 1 gp41 and p115 RhoGEF Curr Biol 9 21 1271 4 Bibcode 1999CBio 9 1271Z doi 10 1016 S0960 9822 99 80511 9 PMC 4513661 PMID 10556093 Nikolopoulos SN Spengler BA Kisselbach K et al 2000 The human non muscle alpha actinin protein encoded by the ACTN4 gene suppresses tumorigenicity of human neuroblastoma cells Oncogene 19 3 380 6 doi 10 1038 sj onc 1203310 PMID 10656685 El Husseini AE Kwasnicka D Yamada T et al 2000 BERP a novel ring finger protein binds to alpha actinin 4 Biochem Biophys Res Commun 267 3 906 11 doi 10 1006 bbrc 1999 2045 PMID 10673389 Kaplan JM Kim SH North KN et al 2000 Mutations in ACTN4 encoding alpha actinin 4 cause familial focal segmental glomerulosclerosis Nat Genet 24 3 251 6 doi 10 1038 73456 PMID 10700177 S2CID 36426082 Vallenius T Luukko K Makela TP 2000 CLP 36 PDZ LIM protein associates with nonmuscle alpha actinin 1 and alpha actinin 4 J Biol Chem 275 15 11100 5 doi 10 1074 jbc 275 15 11100 PMID 10753915 Holliday LS Lu M Lee BS et al 2000 The amino terminal domain of the B subunit of vacuolar H ATPase contains a filamentous actin binding site J Biol Chem 275 41 32331 7 doi 10 1074 jbc M004795200 PMID 10915794 Walikonis RS Oguni A Khorosheva EM et al 2001 Densin 180 forms a ternary complex with the alpha subunit of Ca2 calmodulin dependent protein kinase II and alpha actinin J Neurosci 21 2 423 33 doi 10 1523 JNEUROSCI 21 02 00423 2001 PMC 6763799 PMID 11160423 Echchakir H Mami Chouaib F Vergnon I et al 2001 A point mutation in the alpha actinin 4 gene generates an antigenic peptide recognized by autologous cytolytic T lymphocytes on a human lung carcinoma Cancer Res 61 10 4078 83 PMID 11358829 Xu F Zhao R Peng Y et al 2001 Association of tyrosine phosphatase SHP 2 with F actin at low cell densities J Biol Chem 276 31 29479 84 doi 10 1074 jbc M104428200 PMID 11382784 Huttelmaier S Illenberger S Grosheva I et al 2002 Raver1 a dual compartment protein is a ligand for PTB hnRNPI and microfilament attachment proteins J Cell Biol 155 5 775 86 doi 10 1083 jcb 200105044 PMC 2150882 PMID 11724819 Renoult C Blondin L Fattoum A et al 2002 Binding of gelsolin domain 2 to actin An actin interface distinct from that of gelsolin domain 1 and from ADF cofilin Eur J Biochem 268 23 6165 75 doi 10 1046 j 0014 2956 2001 02574 x PMID 11733011 Gonzalez AM Otey C Edlund M Jones JC 2002 Interactions of a hemidesmosome component and actinin family members J Cell Sci 114 Pt 23 4197 206 doi 10 1242 jcs 114 23 4197 PMID 11739652 Lukoyanova N VanLoock MS Orlova A et al 2002 Each actin subunit has three nebulin binding sites implications for steric blocking Curr Biol 12 5 383 8 Bibcode 2002CBio 12 383L doi 10 1016 S0960 9822 02 00678 4 PMID 11882289 S2CID 15397046 Kim JH Lee Kwon W Park JB et al 2002 Ca 2 dependent inhibition of Na H exchanger 3 NHE3 requires an NHE3 E3KARP alpha actinin 4 complex for oligomerization and endocytosis J Biol Chem 277 26 23714 24 doi 10 1074 jbc M200835200 PMID 11948184 External links editHuman ACTN4 genome location and ACTN4 gene details page in the UCSC Genome Browser Retrieved from https en wikipedia org w index php title Alpha actinin 4 amp oldid 1212493360, wikipedia, wiki, book, books, library,
