ANK1
Eritrocitni ankirin 1, znan i kao ANK1, je protein koji je kod ljudi kodiran genom ANK1.[5][6]
Aminokiselinska sekvenca
urediDužina polipeptidnog lanca je 1.881 aminokiselina, а molekulska težina 206.265 Da.[7]
10 | 20 | 30 | 40 | 50 | ||||
---|---|---|---|---|---|---|---|---|
MPYSVGFREA | DAATSFLRAA | RSGNLDKALD | HLRNGVDINT | CNQNGLNGLH | ||||
LASKEGHVKM | VVELLHKEII | LETTTKKGNT | ALHIAALAGQ | DEVVRELVNY | ||||
GANVNAQSQK | GFTPLYMAAQ | ENHLEVVKFL | LENGANQNVA | TEDGFTPLAV | ||||
ALQQGHENVV | AHLINYGTKG | KVRLPALHIA | ARNDDTRTAA | VLLQNDPNPD | ||||
VLSKTGFTPL | HIAAHYENLN | VAQLLLNRGA | SVNFTPQNGI | TPLHIASRRG | ||||
NVIMVRLLLD | RGAQIETKTK | DELTPLHCAA | RNGHVRISEI | LLDHGAPIQA | ||||
KTKNGLSPIH | MAAQGDHLDC | VRLLLQYDAE | IDDITLDHLT | PLHVAAHCGH | ||||
HRVAKVLLDK | GAKPNSRALN | GFTPLHIACK | KNHVRVMELL | LKTGASIDAV | ||||
TESGLTPLHV | ASFMGHLPIV | KNLLQRGASP | NVSNVKVETP | LHMAARAGHT | ||||
EVAKYLLQNK | AKVNAKAKDD | QTPLHCAARI | GHTNMVKLLL | ENNANPNLAT | ||||
TAGHTPLHIA | AREGHVETVL | ALLEKEASQA | CMTKKGFTPL | HVAAKYGKVR | ||||
VAELLLERDA | HPNAAGKNGL | TPLHVAVHHN | NLDIVKLLLP | RGGSPHSPAW | ||||
NGYTPLHIAA | KQNQVEVARS | LLQYGGSANA | ESVQGVTPLH | LAAQEGHAEM | ||||
VALLLSKQAN | GNLGNKSGLT | PLHLVAQEGH | VPVADVLIKH | GVMVDATTRM | ||||
GYTPLHVASH | YGNIKLVKFL | LQHQADVNAK | TKLGYSPLHQ | AAQQGHTDIV | ||||
TLLLKNGASP | NEVSSDGTTP | LAIAKRLGYI | SVTDVLKVVT | DETSFVLVSD | ||||
KHRMSFPETV | DEILDVSEDE | GEELISFKAE | RRDSRDVDEE | KELLDFVPKL | ||||
DQVVESPAIP | RIPCAMPETV | VIRSEEQEQA | SKEYDEDSLI | PSSPATETSD | ||||
NISPVASPVH | TGFLVSFMVD | ARGGSMRGSR | HNGLRVVIPP | RTCAAPTRIT | ||||
CRLVKPQKLS | TPPPLAEEEG | LASRIIALGP | TGAQFLSPVI | VEIPHFASHG | ||||
RGDRELVVLR | SENGSVWKEH | RSRYGESYLD | QILNGMDEEL | GSLEELEKKR | ||||
VCRIITTDFP | LYFVIMSRLC | QDYDTIGPEG | GSLKSKLVPL | VQATFPENAV | ||||
TKRVKLALQA | QPVPDELVTK | LLGNQATFSP | IVTVEPRRRK | FHRPIGLRIP | ||||
LPPSWTDNPR | DSGEGDTTSL | RLLCSVIGGT | DQAQWEDITG | TTKLVYANEC | ||||
ANFTTNVSAR | FWLSDCPRTA | EAVNFATLLY | KELTAVPYMA | KFVIFAKMND | ||||
PREGRLRCYC | MTDDKVDKTL | EQHENFVEVA | RSRDIEVLEG | MSLFAELSGN | ||||
LVPVKKAAQQ | RSFHFQSFRE | NRLAMPVKVR | DSSREPGGSL | SFLRKAMKYE | ||||
DTQHILCHLN | ITMPPCAKGS | GAEDRRRTPT | PLALRYSILS | ESTPGSLSGT | ||||
EQAEMKMAVI | SEHLGLSWAE | LARELQFSVE | DINRIRVENP | NSLLEQSVAL | ||||
LNLWVIREGQ | NANMENLYTA | LQSIDRGEIV | NMLEGSGRQS | RNLKPDRRHT | ||||
DRDYSLSPSQ | MNGYSSLQDE | LLSPASLGCA | LSSPLRADQY | WNEVAVLDAI | ||||
PLAATEHDTM | LEMSDMQVWS | AGLTPSLVTA | EDSSLECSKA | EDSDATGHEW | ||||
KLEGALSEEP | RGPELGSLEL | VEDDTVDSDA | TNGLIDLLEQ | EEGQRSEEKL | ||||
PGSKRQDDAT | GAGQDSENEV | SLVSGHQRGQ | ARITHSPTVS | QVTERSQDRL | ||||
QDWDADGSIV | SYLQDAAQGS | WQEEVTQGPH | SFQGTSTMTE | GLEPGGSQEY | ||||
EKVLVSVSEH | TWTEQPEAES | SQADRDRRQQ | GQEEQVQEAK | NTFTQVVQGN | ||||
EFQNIPGEQV | TEEQFTDEQG | NIVTKKIIRK | VVRQIDLSSA | DAAQEHEEVT | ||||
VEGPLEDPSE | LEVDIDYFMK | HSKDHTSTPN | P |
Funkcija
urediProtein ANK1 pripada porodici ankirina za koju se vjeruje da povezuje integralne membranske proteine s osnovnim spektrin-aktin citoskeletom i ima ključnu ulogu u aktivnosti poput pokretljivosti ćelija, aktivacije, proliferacije, kontakta i održavanja specijaliziranih membranskih domena. Više izoformi ankirina s različitim afinitetima za različite ciljne proteine izraženo je na tkivo specifičan, razvojno reguliran način. Većina ankirina se obično sastoji od tri strukturna domena: amino-terminalni domen koji sadrži više ponavljanja ankirina; centralna regija sa visoko konzerviranim domenom vezanja spektra, i karboksi-terminalno regulacijsko područje, koje je najmanje konzervirano i podložno promjenama.[6]
Male varijante prerašenih proteina ANK1 (sAnk1) uspostavljaju kontakt sa opskurinom, divovskim proteinom koji okružuje kontraktilni aparat u prugastim mišićima.[8]
Tkivna distribucija
urediProtein kodiran ovim genom, ankirin 1, prototip je porodice ankirina, prvi put je otkriven u eritrocitima, ali je od tada pronađen i u mozgu i mišićima.[6]
Genetika
urediOpisani su složeni obrasci alternativnih prerada u regulatornom domenu, koji uzrokuju različite izoforme ankirina 1, ali precizne funkcije različitih izoformi nisu poznate . Prijavljena je i alternativna poliadenilacija koja predstavlja iRNK eritrocitnog ankirina 1 različite veličine. Skraćene mišićno specifične izoforme ankirina 1 nastale korištenjem zamjenskog promotora su također identificirane.[6]
Vezane bolesti
urediMutacije u eritrocitnom ankirinu 1 povezane su s otprilike polovinom svih pacijenata s nasljednom sferocitozom.[6]
Kod Alzheimerove bolesti, ANK1 pokazuje promijenjenu metilaciju i ekspresiju.[9][10] Studija ekspresije gena posmrtnog mozga pokazala je da ANK1 stupa u interakciju sa signalizacijom interferona-γ.[11]
Interakcije
urediPokazalo se da ANK1 stupa u interakciju sa invazivnim limfomom T-ćelija i proteinom 1 koji izaziva metastaze,[12] Titinom,[13] RHAG-om[14] i OBSCN-om.[15]
Također pogledajte
urediReference
uredi- ^ a b c GRCh38: Ensembl release 89: ENSG00000029534 - Ensembl, maj 2017
- ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000031543 - Ensembl, maj 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.
- ^ Lambert S, Yu H, Prchal JT, et al. (mart 1990). "cDNA sequence for human erythrocyte ankyrin". Proc. Natl. Acad. Sci. U.S.A. 87 (5): 1730–4. Bibcode:1990PNAS...87.1730L. doi:10.1073/pnas.87.5.1730. PMC 53556. PMID 1689849.
- ^ a b c d e "Entrez Gene: ANK1 ankyrin 1, erythrocytic".
- ^ "UniProt, P16157". Pristupljeno 13. 9. 2021.
- ^ Borzok MA, Catino DH, Nicholson JD, Kontrogianni-Konstantopoulos A, Bloch RJ (novembar 2007). "Mapping the binding site on small ankyrin 1 for obscurin". J. Biol. Chem. 282 (44): 32384–96. doi:10.1074/jbc.M704089200. PMID 17720975.
- ^ De Jager, P. L.; Srivastava, G; Lunnon, K; Burgess, J; Schalkwyk, L. C.; Yu, L; Eaton, M. L.; Keenan, B. T.; Ernst, J; McCabe, C; Tang, A; Raj, T; Replogle, J; Brodeur, W; Gabriel, S; Chai, H. S.; Younkin, C; Younkin, S. G.; Zou, F; Szyf, M; Epstein, C. B.; Schneider, J. A.; Bernstein, B. E.; Meissner, A; Ertekin-Taner, N; Chibnik, L. B.; Kellis, M; Mill, J; Bennett, D. A. (2014). "Alzheimer's disease: Early alterations in brain DNA methylation at ANK1, BIN1, RHBDF2 and other loci". Nature Neuroscience. 17 (9): 1156–63. doi:10.1038/nn.3786. PMC 4292795. PMID 25129075.
- ^ Lunnon, K; Smith, R; Hannon, E; De Jager, P. L.; Srivastava, G; Volta, M; Troakes, C; Al-Sarraj, S; Burrage, J; MacDonald, R; Condliffe, D; Harries, L. W.; Katsel, P; Haroutunian, V; Kaminsky, Z; Joachim, C; Powell, J; Lovestone, S; Bennett, D. A.; Schalkwyk, L. C.; Mill, J (2014). "Methylomic profiling implicates cortical deregulation of ANK1 in Alzheimer's disease". Nature Neuroscience. 17 (9): 1164–70. doi:10.1038/nn.3782. PMC 4410018. PMID 25129077.
- ^ Liscovitch, N; French, L (2014). "Differential Co-Expression between α-Synuclein and IFN-γ Signaling Genes across Development and in Parkinson's Disease". PLOS ONE. 9 (12): e115029. Bibcode:2014PLoSO...9k5029L. doi:10.1371/journal.pone.0115029. PMC 4262449. PMID 25493648.
- ^ Bourguignon, L Y; Zhu H; Shao L; Chen Y W (juli 2000). "Ankyrin-Tiam1 interaction promotes Rac1 signaling and metastatic breast tumor cell invasion and migration". J. Cell Biol. 150 (1): 177–91. doi:10.1083/jcb.150.1.177. ISSN 0021-9525. PMC 2185563. PMID 10893266.
- ^ Kontrogianni-Konstantopoulos, Aikaterini; Bloch Robert J (februar 2003). "The hydrophilic domain of small ankyrin-1 interacts with the two N-terminal immunoglobulin domains of titin". J. Biol. Chem. 278 (6): 3985–91. doi:10.1074/jbc.M209012200. ISSN 0021-9258. PMID 12444090.
- ^ Nicolas, Virginie; Le Van Kim, Caroline; Gane, Pierre; Birkenmeier, Connie; Cartron, Jean-Pierre; Colin, Yves; Mouro-Chanteloup, Isabelle (juli 2003). "Rh-RhAG/ankyrin-R, a new interaction site between the membrane bilayer and the red cell skeleton, is impaired by Rh(null)-associated mutation". J. Biol. Chem. 278 (28): 25526–33. doi:10.1074/jbc.M302816200. ISSN 0021-9258. PMID 12719424.
- ^ Kontrogianni-Konstantopoulos, Aikaterini; Jones Ellene M; Van Rossum Damian B; Bloch Robert J (mart 2003). "Obscurin is a ligand for small ankyrin 1 in skeletal muscle". Mol. Biol. Cell. 14 (3): 1138–48. doi:10.1091/mbc.E02-07-0411. ISSN 1059-1524. PMC 151585. PMID 12631729.
Dopunska literatura
uredi- Bennett V, Baines AJ (2001). "Spectrin and ankyrin-based pathways: metazoan inventions for integrating cells into tissues". Physiol. Rev. 81 (3): 1353–92. doi:10.1152/physrev.2001.81.3.1353. PMID 11427698.
- Bennett V (1979). "Immunoreactive forms of human erythrocyte ankyrin are present in diverse cells and tissues". Nature. 281 (5732): 597–9. Bibcode:1979Natur.281..597B. doi:10.1038/281597a0. PMID 492324. S2CID 263106.
- Lambert S, Yu H, Prchal JT, et al. (1990). "cDNA sequence for human erythrocyte ankyrin". Proc. Natl. Acad. Sci. U.S.A. 87 (5): 1730–4. Bibcode:1990PNAS...87.1730L. doi:10.1073/pnas.87.5.1730. PMC 53556. PMID 1689849.
- Fujimoto T, Lee K, Miwa S, Ogawa K (1991). "Immunocytochemical localization of fodrin and ankyrin in bovine chromaffin cells in vitro". J. Histochem. Cytochem. 39 (11): 1485–93. doi:10.1177/39.11.1833445. PMID 1833445.
- Lux SE, John KM, Bennett V (1990). "Analysis of cDNA for human erythrocyte ankyrin indicates a repeated structure with homology to tissue-differentiation and cell-cycle control proteins". Nature. 344 (6261): 36–42. Bibcode:1990Natur.344...36L. doi:10.1038/344036a0. PMID 2137557. S2CID 4351060.
- Davis LH, Bennett V (1990). "Mapping the binding sites of human erythrocyte ankyrin for the anion exchanger and spectrin". J. Biol. Chem. 265 (18): 10589–96. doi:10.1016/S0021-9258(18)86987-3. PMID 2141335.
- Korsgren C, Cohen CM (1988). "Associations of human erythrocyte band 4.2. Binding to ankyrin and to the cytoplasmic domain of band 3". J. Biol. Chem. 263 (21): 10212–8. doi:10.1016/S0021-9258(19)81500-4. PMID 2968981.
- Cianci CD, Giorgi M, Morrow JS (1988). "Phosphorylation of ankyrin down-regulates its cooperative interaction with spectrin and protein 3". J. Cell. Biochem. 37 (3): 301–15. doi:10.1002/jcb.240370305. PMID 2970468. S2CID 42349239.
- Steiner JP, Bennett V (1988). "Ankyrin-independent membrane protein-binding sites for brain and erythrocyte spectrin". J. Biol. Chem. 263 (28): 14417–25. doi:10.1016/S0021-9258(18)68236-5. PMID 2971657.
- Hargreaves WR, Giedd KN, Verkleij A, Branton D (1981). "Reassociation of ankyrin with band 3 in erythrocyte membranes and in lipid vesicles". J. Biol. Chem. 255 (24): 11965–72. doi:10.1016/S0021-9258(19)70228-2. PMID 6449514.
- Bourguignon LY, Lokeshwar VB, Chen X, Kerrick WG (1994). "Hyaluronic acid-induced lymphocyte signal transduction and HA receptor (GP85/CD44)-cytoskeleton interaction". J. Immunol. 151 (12): 6634–44. PMID 7505012.
- 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.
- Morgans CW, Kopito RR (1993). "Association of the brain anion exchanger, AE3, with the repeat domain of ankyrin". J. Cell Sci. 105. ( Pt 4) (4): 1137–42. doi:10.1242/jcs.105.4.1137. PMID 8227202.
- Bourguignon LY, Jin H, Iida N, et al. (1993). "The involvement of ankyrin in the regulation of inositol 1,4,5-trisphosphate receptor-mediated internal Ca2+ release from Ca2+ storage vesicles in mouse T-lymphoma cells". J. Biol. Chem. 268 (10): 7290–7. doi:10.1016/S0021-9258(18)53175-6. PMID 8385102.
- Eber SW, Gonzalez JM, Lux ML, et al. (1996). "Ankyrin-1 mutations are a major cause of dominant and recessive hereditary spherocytosis". Nat. Genet. 13 (2): 214–8. doi:10.1038/ng0696-214. PMID 8640229. S2CID 10946374.
- Lanfranchi G, Muraro T, Caldara F, et al. (1996). "Identification of 4370 expressed sequence tags from a 3'-end-specific cDNA library of human skeletal muscle by DNA sequencing and filter hybridization". Genome Res. 6 (1): 35–42. doi:10.1101/gr.6.1.35. PMID 8681137.
- del Giudice EM, Hayette S, Bozon M, et al. (1996). "Ankyrin Napoli: a de novo deletional frameshift mutation in exon 16 ankyrin gene (ANK1) associated with spherocytosis". Br. J. Haematol. 93 (4): 828–34. doi:10.1046/j.1365-2141.1996.d01-1746.x. PMID 8703812. S2CID 28906962.
- Zhou D, Birkenmeier CS, Williams MW, et al. (1997). "Small, membrane-bound, alternatively spliced forms of ankyrin 1 associated with the sarcoplasmic reticulum of mammalian skeletal muscle". J. Cell Biol. 136 (3): 621–31. doi:10.1083/jcb.136.3.621. PMC 2134284. PMID 9024692.
- Gallagher PG, Tse WT, Scarpa AL, et al. (1997). "Structure and organization of the human ankyrin-1 gene. Basis for complexity of pre-mRNA processing". J. Biol. Chem. 272 (31): 19220–8. doi:10.1074/jbc.272.31.19220. PMID 9235914.
- 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.
Vanjski linkovi
uredi- ANK1 protein, human na US National Library of Medicine Medical Subject Headings (MeSH)
- Lokacija ljudskog genoma ANK1 i stranica sa detaljima o genu ANK1 u UCSC Genome Browseru.