NAIP
Bakulovirusni IAP protein-1 sa ponavljanjem jest protein koji je kod ljudi kodiran genom NAIP sa q kraka hromosoma 5.[5][6]
Aminokiselinska sekvenca
Dužina polipeptidnog lanca je 1.403 aminokiseline, a molekulska težina 159.582 Da.[6]
| 10 | 20 | 30 | 40 | 50 | ||||
|---|---|---|---|---|---|---|---|---|
| MATQQKASDE | RISQFDHNLL | PELSALLGLD | AVQLAKELEE | EEQKERAKMQ | ||||
| KGYNSQMRSE | AKRLKTFVTY | EPYSSWIPQE | MAAAGFYFTG | VKSGIQCFCC | ||||
| SLILFGAGLT | RLPIEDHKRF | HPDCGFLLNK | DVGNIAKYDI | RVKNLKSRLR | ||||
| GGKMRYQEEE | ARLASFRNWP | FYVQGISPCV | LSEAGFVFTG | KQDTVQCFSC | ||||
| GGCLGNWEEG | DDPWKEHAKW | FPKCEFLRSK | KSSEEITQYI | QSYKGFVDIT | ||||
| GEHFVNSWVQ | RELPMASAYC | NDSIFAYEEL | RLDSFKDWPR | ESAVGVAALA | ||||
| KAGLFYTGIK | DIVQCFSCGG | CLEKWQEGDD | PLDDHTRCFP | NCPFLQNMKS | ||||
| SAEVTPDLQS | RGELCELLET | TSESNLEDSI | AVGPIVPEMA | QGEAQWFQEA | ||||
| KNLNEQLRAA | YTSASFRHMS | LLDISSDLAT | DHLLGCDLSI | ASKHISKPVQ | ||||
| EPLVLPEVFG | NLNSVMCVEG | EAGSGKTVLL | KKIAFLWASG | CCPLLNRFQL | ||||
| VFYLSLSSTR | PDEGLASIIC | DQLLEKEGSV | TEMCVRNIIQ | QLKNQVLFLL | ||||
| DDYKEICSIP | QVIGKLIQKN | HLSRTCLLIA | VRTNRARDIR | RYLETILEIK | ||||
| AFPFYNTVCI | LRKLFSHNMT | RLRKFMVYFG | KNQSLQKIQK | TPLFVAAICA | ||||
| HWFQYPFDPS | FDDVAVFKSY | MERLSLRNKA | TAEILKATVS | SCGELALKGF | ||||
| FSCCFEFNDD | DLAEAGVDED | EDLTMCLMSK | FTAQRLRPFY | RFLSPAFQEF | ||||
| LAGMRLIELL | DSDRQEHQDL | GLYHLKQINS | PMMTVSAYNN | FLNYVSSLPS | ||||
| TKAGPKIVSH | LLHLVDNKES | LENISENDDY | LKHQPEISLQ | MQLLRGLWQI | ||||
| CPQAYFSMVS | EHLLVLALKT | AYQSNTVAAC | SPFVLQFLQG | RTLTLGALNL | ||||
| QYFFDHPESL | SLLRSIHFPI | RGNKTSPRAH | FSVLETCFDK | SQVPTIDQDY | ||||
| ASAFEPMNEW | ERNLAEKEDN | VKSYMDMQRR | ASPDLSTGYW | KLSPKQYKIP | ||||
| CLEVDVNDID | VVGQDMLEIL | MTVFSASQRI | ELHLNHSRGF | IESIRPALEL | ||||
| SKASVTKCSI | SKLELSAAEQ | ELLLTLPSLE | SLEVSGTIQS | QDQIFPNLDK | ||||
| FLCLKELSVD | LEGNINVFSV | IPEEFPNFHH | MEKLLIQISA | EYDPSKLVKL | ||||
| IQNSPNLHVF | HLKCNFFSDF | GSLMTMLVSC | KKLTEIKFSD | SFFQAVPFVA | ||||
| SLPNFISLKI | LNLEGQQFPD | EETSEKFAYI | LGSLSNLEEL | ILPTGDGIYR | ||||
| VAKLIIQQCQ | QLHCLRVLSF | FKTLNDDSVV | EIAKVAISGG | FQKLENLKLS | ||||
| INHKITEEGY | RNFFQALDNM | PNLQELDISR | HFTECIKAQA | TTVKSLSQCV | ||||
| LRLPRLIRLN | MLSWLLDADD | IALLNVMKER | HPQSKYLTIL | QKWILPFSPI | ||||
| IQK |
Funkcija
Ovaj gen je dio 500 kilobazne invertirane duplikacije na hromosomu 5, sekvenca q13. Ova duplirana regija sadrži najmanje četiri gena i elemente koji se ponavljaju zbog kojih je sklona preuređivanja i delecije. Repetitivnost i složenost sekvence su takođe izazvale poteškoće u određivanju organizacije ovog genomskog regiona. Ova kopija gena je pune dužine; dodatne kopije sa skraćenjima i unutrašnjim delecijama su takođe prisutne u ovoj regiji hromosoma 5q13. Smatra se da je ovaj gen modifikator spinalne mišićne atrofije uzrokovane mutacijama u susjednom genu, SMN1. Protein kodiran ovim genom sadrži regione homologije sa dva bakulovirusna inhibitora proteina apoptoze, i sposoban je da potisne apoptozu izazvanu različitim signalima. Za ovaj gen pronađene su alternativno prerađene varijante transkripta koje kodiraju različite izoforme.[6]
Reference
- ^ a b c ENSG00000276068, ENSG00000249437 GRCh38: Ensembl release 89: ENSG00000278613, ENSG00000276068, ENSG00000249437 - Ensembl, maj 2017
- ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000078945 - 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.
- ^ Roy N, Mahadevan MS, McLean M, Shutler G, Yaraghi Z, Farahani R, Baird S, Besner-Johnston A, Lefebvre C, Kang X, et al. (Feb 1995). "The gene for neuronal apoptosis inhibitory protein is partially deleted in individuals with spinal muscular atrophy". Cell. 80 (1): 167–78. doi:10.1016/0092-8674(95)90461-1. PMID 7813013. S2CID 15141092.
- ^ a b c "Entrez Gene: NAIP NLR family, apoptosis inhibitory protein".
Dopunska literatura
- van der Steege G, Draaijers TG, Grootscholten PM, et al. (1995). "A provisional transcript map of the spinal muscular atrophy (SMA) critical region". Eur. J. Hum. Genet. 3 (2): 87–95. doi:10.1159/000472281. PMID 7552146. S2CID 46083524.
- Liston P, Roy N, Tamai K, et al. (1996). "Suppression of apoptosis in mammalian cells by NAIP and a related family of IAP genes". Nature. 379 (6563): 349–53. Bibcode:1996Natur.379..349L. doi:10.1038/379349a0. PMID 8552191. S2CID 4305853.
- Chen Q, Baird SD, Mahadevan M, et al. (1998). "Sequence of a 131-kb region of 5q13.1 containing the spinal muscular atrophy candidate genes SMN and NAIP". Genomics. 48 (1): 121–7. doi:10.1006/geno.1997.5141. PMID 9503025.
- Monani UR, Lorson CL, Parsons DW, et al. (1999). "A single nucleotide difference that alters splicing patterns distinguishes the SMA gene SMN1 from the copy gene SMN2". Hum. Mol. Genet. 8 (7): 1177–83. doi:10.1093/hmg/8.7.1177. PMID 10369862.
- Yamamoto K, Sakai H, Hadano S, et al. (1999). "Identification of two distinct transcripts for the neuronal apoptosis inhibitory protein gene". Biochem. Biophys. Res. Commun. 264 (3): 998–1006. doi:10.1006/bbrc.1999.1615. PMID 10544044.
- Mercer EA, Korhonen L, Skoglösa Y, et al. (2000). "NAIP interacts with hippocalcin and protects neurons against calcium-induced cell death through caspase-3-dependent and -independent pathways". EMBO J. 19 (14): 3597–607. doi:10.1093/emboj/19.14.3597. PMC 313967. PMID 10899114.
- Sanna MG, da Silva Correia J, Ducrey O, et al. (2002). "IAP suppression of apoptosis involves distinct mechanisms: the TAK1/JNK1 signaling cascade and caspase inhibition". Mol. Cell. Biol. 22 (6): 1754–66. doi:10.1128/MCB.22.6.1754-1766.2002. PMC 135597. PMID 11865055.
- Akutsu T, Nishio H, Sumino K, et al. (2002). "Molecular genetics of spinal muscular atrophy: contribution of the NAIP gene to clinical severity". Kobe Journal of Medical Sciences. 48 (1–2): 25–31. PMID 11912351.
- Xu M, Okada T, Sakai H, et al. (2002). "Functional human NAIP promoter transcription regulatory elements for the NAIP and PsiNAIP genes". Biochim. Biophys. Acta. 1574 (1): 35–50. doi:10.1016/S0167-4781(01)00343-8. PMID 11955612.
- Notarbartolo M, Cervello M, Dusonchet L, D'Alessandro N (2002). "NAIP-deltaEx10-11: a novel splice variant of the apoptosis inhibitor NAIP differently expressed in drug-sensitive and multidrug-resistant HL60 leukemia cells". Leuk. Res. 26 (9): 857–62. doi:10.1016/S0145-2126(02)00016-4. PMID 12127562.
- Lindholm D, Mercer EA, Yu LY, et al. (2002). "Neuronal apoptosis inhibitory protein: Structural requirements for hippocalcin binding and effects on survival of NGF-dependent sympathetic neurons". Biochim. Biophys. Acta. 1600 (1–2): 138–47. doi:10.1016/S1570-9639(02)00454-5. PMID 12445469.
- Damiano JS, Oliveira V, Welsh K, Reed JC (2004). "Heterotypic interactions among NACHT domains: implications for regulation of innate immune responses". Biochem. J. 381 (Pt 1): 213–9. doi:10.1042/BJ20031506. PMC 1133779. PMID 15107016.
- Davoodi J, Lin L, Kelly J, et al. (2004). "Neuronal apoptosis-inhibitory protein does not interact with Smac and requires ATP to bind caspase-9". J. Biol. Chem. 279 (39): 40622–8. doi:10.1074/jbc.M405963200. PMID 15280366.
- Aubin D, Gagnon A, Grunder L, et al. (2004). "Adipogenic and antiapoptotic protein levels in human adipose stromal cells after weight loss". Obes. Res. 12 (8): 1231–4. doi:10.1038/oby.2004.156. PMID 15340105.
- Schmutz J, Martin J, Terry A, et al. (2004). "The DNA sequence and comparative analysis of human chromosome 5". Nature. 431 (7006): 268–74. Bibcode:2004Natur.431..268S. doi:10.1038/nature02919. PMID 15372022.
- Romanish MT, Lock WM, van de Lagemaat LN, et al. (2007). "Repeated recruitment of LTR retrotransposons as promoters by the anti-apoptotic locus NAIP during mammalian evolution". PLOS Genet. 3 (1): e10. doi:10.1371/journal.pgen.0030010. PMC 1781489. PMID 17222062.
- Maier JK, Balabanian S, Coffill CR, et al. (2007). "Distribution of neuronal apoptosis inhibitory protein in human tissues". J. Histochem. Cytochem. 55 (9): 911–23. doi:10.1369/jhc.6A7144.2007. PMID 17510375.
Vanjski linkovi
- Neuronal Apoptosis-Inhibitory Protein na US National Library of Medicine Medical Subject Headings (MeSH)
- Q13075
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