NAIP

NAIP
Dostupne strukture
PDB	Pretraga ortologa: PDBe RCSB
Spisak PDB ID kodova
	2VM5
Identifikatori
Aliasi	NAIP
Vanjski ID-jevi	OMIM: 600355 MGI: 1298226 HomoloGene: 136092 GeneCards: NAIP
Lokacija gena (čovjek)
Hrom.	Hromosom 5 (čovjek)
Kraj	71,025,339 bp
Lokacija gena (miš)
Hrom.	Hromosom 13 (miš)
Kraj	100,338,600 bp
Ontologija gena
Molekularna funkcija	• peptidase inhibitor activity; • nucleotide binding; • cysteine-type endopeptidase inhibitor activity; • vezivanje iona metala; • GO:0050372 aktivnost sa transferazom ubikvitina; • GO:0001948, GO:0016582 vezivanje za proteine; • ATP binding; • cysteine-type endopeptidase inhibitor activity involved in apoptotic process;
Ćelijska komponenta	• perikaryon; • soma; • basolateral plasma membrane; • neuron projection; • citoplazma; • jedro;
Biološki proces	• GO:1904089 negative regulation of neuron apoptotic process; • negative regulation of cysteine-type endopeptidase activity involved in apoptotic process; • response to amino acid; • negative regulation of peptidase activity; • immune system process; • nervous system development; • response to axon injury; • Urođeni imunski sistem; • inflammatory response; • GO:0097285 apoptoza; • protein ubiquitination; • positive regulation of canonical Wnt signaling pathway; • mitotic spindle assembly; • inhibition of cysteine-type endopeptidase activity involved in apoptotic process; • negative regulation of apoptotic process;
	Izvori:Amigo / QuickGO
Ortolozi
	4671
	17948
	ENSG00000278613; ENSG00000276068; ENSG00000249437
	ENSMUSG00000078945
	Q13075
	Q9QUK4
	NM_004536; NM_022892; NM_001346870
	NM_001126182; NM_010872
	NP_001333799; NP_004527; NP_075043
	NP_001119654; NP_035002
	Wikipodaci
Pogledaj/uredi – čovjek	Pogledaj/uredi – miš

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]

C: Cistein

D: Asparaginska kiselina

E: Glutaminska kiselina

F: Fenilalanin

G: Glicin

H: Histidin

I: Izoleucin

K: Lizin

L: Leucin

M: Metionin

N: Asparagin

P: Prolin

Q: Glutamin

R: Arginin

S: Serin

T: Treonin

V: Valin

W: Triptofan

Y: Tirozin

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

Šablon:NOD receptori

[refGRCh38Ensembl-1] ENSG00000276068, ENSG00000249437 GRCh38: Ensembl release 89: ENSG00000278613, ENSG00000276068, ENSG00000249437 - Ensembl, maj 2017

[refGRCm38Ensembl-2] GRCm38: Ensembl release 89: ENSMUSG00000078945 - Ensembl, maj 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.

[pmid7813013-5] 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.

[entrez-6] "Entrez Gene: NAIP NLR family, apoptosis inhibitory protein".

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