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Homo sapiens NLR family, apoptosis inhibitory protein (NAIP), transcript variant 1, mRNA.


RefSeq Accession Definition Service Stock Status Price *Turnaround time Order
NM_004536 Homo sapiens NLR family, apoptosis inhibitory protein (NAIP), transcript variant 1, mRNA. GenEZ ORF Cloning On-demand $1699.00 25

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RefSeq Version NM_004536.2, 119393877
Length 6551 bp
Structure linear
Update Date 17-APR-2013
Organism Homo sapiens (human)
Definition Homo sapiens NLR family, apoptosis inhibitory protein (NAIP), transcript variant 1, mRNA.
Product baculoviral IAP repeat-containing protein 1 isoform 1
Comment

Summary: This gene is part of a 500 kb inverted duplication on chromosome 5q13. This duplicated region contains at least four genes and repetitive elements which make it prone to rearrangements and deletions. The repetitiveness and complexity of the sequence have also caused difficulty in determining the organization of this genomic region. This copy of the gene is full length; additional copies with truncations and internal deletions are also present in this region of chromosome 5q13. It is thought that this gene is a modifier of spinal muscular atrophy caused by mutations in a neighboring gene, SMN1. The protein encoded by this gene contains regions of homology to two baculovirus inhibitor of apoptosis proteins, and it is able to suppress apoptosis induced by various signals. Alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq, Jul 2008].


Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).

RefSeq NP_004527.2
CDS 719..4930
Misc Feature(1)689..691
Misc Feature(2)896..1099
Misc Feature(3)896..1099
Misc Feature(4)899..1105
Misc Feature(5)order(983..985,998..1000,1004..1006,1025..1033,1037..1039,
Misc Feature(6)order(1007..1009,1016..1018,1067..1069,1088..1090)
Misc Feature(7)1193..1399
Misc Feature(8)1196..1405
Misc Feature(9)order(1283..1285,1298..1300,1304..1306,1325..1333,
Misc Feature(10)order(1307..1309,1316..1318,1367..1369,1388..1390)
Misc Feature(11)1550..1753
Misc Feature(12)1553..1759
Misc Feature(13)order(1637..1639,1652..1654,1658..1660,1679..1687,
Misc Feature(14)order(1661..1663,1670..1672,1721..1723,1742..1744)
Misc Feature(15)2105..2518
Misc Feature(16)2108..2569
Misc Feature(17)<4229..>4840
Misc Feature(18)order(4265..4267,4274..4276,4280..4282,4289..4291,
Exon (1)1..500
Gene:NAIP
Gene Synonym:BIRC1; NLRB1; psiNAIP
Exon (2)501..589
Gene:NAIP
Gene Synonym:BIRC1; NLRB1; psiNAIP
Exon (3)590..715
Gene:NAIP
Gene Synonym:BIRC1; NLRB1; psiNAIP
Exon (4)716..1286
Gene:NAIP
Gene Synonym:BIRC1; NLRB1; psiNAIP
Exon (5)1287..1386
Gene:NAIP
Gene Synonym:BIRC1; NLRB1; psiNAIP
Exon (6)1387..1468
Gene:NAIP
Gene Synonym:BIRC1; NLRB1; psiNAIP
Exon (7)1469..1520
Gene:NAIP
Gene Synonym:BIRC1; NLRB1; psiNAIP
Exon (8)1521..1640
Gene:NAIP
Gene Synonym:BIRC1; NLRB1; psiNAIP
Exon (9)1641..1740
Gene:NAIP
Gene Synonym:BIRC1; NLRB1; psiNAIP
Exon (10)1741..1822
Gene:NAIP
Gene Synonym:BIRC1; NLRB1; psiNAIP
Exon (11)1823..1880
Gene:NAIP
Gene Synonym:BIRC1; NLRB1; psiNAIP
Exon (12)1881..3992
Gene:NAIP
Gene Synonym:BIRC1; NLRB1; psiNAIP
Exon (13)3993..4160
Gene:NAIP
Gene Synonym:BIRC1; NLRB1; psiNAIP
Exon (14)4161..4313
Gene:NAIP
Gene Synonym:BIRC1; NLRB1; psiNAIP
Exon (15)4314..4400
Gene:NAIP
Gene Synonym:BIRC1; NLRB1; psiNAIP
Exon (16)4401..4565
Gene:NAIP
Gene Synonym:BIRC1; NLRB1; psiNAIP
Exon (17)4566..6551
Gene:NAIP
Gene Synonym:BIRC1; NLRB1; psiNAIP
Translation MATQQKASDERISQFDHNLLPELSALLGLDAVQLAKELEEEEQKERAKMQKGYNSQMRSE AKRLKTFVTYEPYSSWIPQEMAAAGFYFTGVKSGIQCFCCSLILFGAGLTRLPIEDHKRF HPDCGFLLNKDVGNIAKYDIRVKNLKSRLRGGKMRYQEEEARLASFRNWPFYVQGISPCV LSEAGFVFTGKQDTVQCFSCGGCLGNWEEGDDPWKEHAKWFPKCEFLRSKKSSEEITQYI QSYKGFVDITGEHFVNSWVQRELPMASAYCNDSIFAYEELRLDSFKDWPRESAVGVAALA KAGLFYTGIKDIVQCFSCGGCLEKWQEGDDPLDDHTRCFPNCPFLQNMKSSAEVTPDLQS RGELCELLETTSESNLEDSIAVGPIVPEMAQGEAQWFQEAKNLNEQLRAAYTSASFRHMS LLDISSDLATDHLLGCDLSIASKHISKPVQEPLVLPEVFGNLNSVMCVEGEAGSGKTVLL KKIAFLWASGCCPLLNRFQLVFYLSLSSTRPDEGLASIICDQLLEKEGSVTEMCVRNIIQ QLKNQVLFLLDDYKEICSIPQVIGKLIQKNHLSRTCLLIAVRTNRARDIRRYLETILEIK AFPFYNTVCILRKLFSHNMTRLRKFMVYFGKNQSLQKIQKTPLFVAAICAHWFQYPFDPS FDDVAVFKSYMERLSLRNKATAEILKATVSSCGELALKGFFSCCFEFNDDDLAEAGVDED EDLTMCLMSKFTAQRLRPFYRFLSPAFQEFLAGMRLIELLDSDRQEHQDLGLYHLKQINS PMMTVSAYNNFLNYVSSLPSTKAGPKIVSHLLHLVDNKESLENISENDDYLKHQPEISLQ MQLLRGLWQICPQAYFSMVSEHLLVLALKTAYQSNTVAACSPFVLQFLQGRTLTLGALNL QYFFDHPESLSLLRSIHFPIRGNKTSPRAHFSVLETCFDKSQVPTIDQDYASAFEPMNEW ERNLAEKEDNVKSYMDMQRRASPDLSTGYWKLSPKQYKIPCLEVDVNDIDVVGQDMLEIL MTVFSASQRIELHLNHSRGFIESIRPALELSKASVTKCSISKLELSAAEQELLLTLPSLE SLEVSGTIQSQDQIFPNLDKFLCLKELSVDLEGNINVFSVIPEEFPNFHHMEKLLIQISA EYDPSKLVKLIQNSPNLHVFHLKCNFFSDFGSLMTMLVSCKKLTEIKFSDSFFQAVPFVA SLPNFISLKILNLEGQQFPDEETSEKFAYILGSLSNLEELILPTGDGIYRVAKLIIQQCQ QLHCLRVLSFFKTLNDDSVVEIAKVAISGGFQKLENLKLSINHKITEEGYRNFFQALDNM PNLQELDISRHFTECIKAQATTVKSLSQCVLRLPRLIRLNMLSWLLDADDIALLNVMKER HPQSKYLTILQKWILPFSPIIQK
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Position Chain Variation Link
198+dbSNP:
198+c, gdbSNP:2666657
276+a, cdbSNP:565497
276+g, tdbSNP:74628730
293+a, gdbSNP:565538
308+a, gdbSNP:528294
308+c, tdbSNP:76165570
464+a, gdbSNP:74504355
664+dbSNP:
664+a, gdbSNP:112342150
666+c, tdbSNP:200966956
680+c, gdbSNP:201829840
687+a, gdbSNP:200031007
complement(757..758)-, cdbSNP:35140058
complement(767)-t, gdbSNP:139139439
complement(799)-c, adbSNP:200175804
complement(818)-g, adbSNP:141020129
complement(855)-t, cdbSNP:141634501
complement(858)-g, cdbSNP:189765950
complement(901)-t, gdbSNP:201454876
complement(907)-c, adbSNP:115486998
complement(934)-t, cdbSNP:144684936
complement(944)-g, adbSNP:181247511
complement(945)-t, cdbSNP:147313514
complement(974)-c, adbSNP:74601090
complement(999)-t, cdbSNP:147757754
complement(1039)-g, adbSNP:142807071
complement(1040)-t, cdbSNP:202204990
complement(1126)-g, cdbSNP:147988011
complement(1190)-g, cdbSNP:200427852
complement(1199)-t, cdbSNP:61757629
complement(1210)-t, cdbSNP:28409706
complement(1299)-dbSNP:
complement(1299)-g, adbSNP:201023314
complement(1300)-t, cdbSNP:192546915
complement(1326)-t, cdbSNP:145345185
complement(1381)-g, adbSNP:147075777
complement(3421)-t, cdbSNP:144305867
complement(5216..5217)-dbSNP:
complement(5216..5217)-, tdbSNP:201481029
Gene SymbolNAIP
Gene SynonymBIRC1; NLRB1; psiNAIP
Chromosome5
Locus Map5q13.2
All Transcripts
RefSeq Accession Definition Stock Status Price Turnaround time Business Day Select
NM_004536 Homo sapiens NLR family, apoptosis inhibitory protein (NAIP), transcript variant 1, mRNA. On-demand $1699.00 25
NM_022892 Homo sapiens NLR family, apoptosis inhibitory protein (NAIP), transcript variant 2, mRNA. On-demand $1699.00 25
XM_003403387 PREDICTED: Homo sapiens NLR family, apoptosis inhibitory protein, transcript variant 1 (NAIP), mRNA. On-demand $1699.00 25
XM_003403388 PREDICTED: Homo sapiens NLR family, apoptosis inhibitory protein, transcript variant 2 (NAIP), mRNA. On-demand $1699.00 25
XM_003403389 PREDICTED: Homo sapiens NLR family, apoptosis inhibitory protein, transcript variant 3 (NAIP), mRNA. On-demand $1699.00 25
XM_003846791 PREDICTED: Homo sapiens NLR family, apoptosis inhibitory protein (NAIP), mRNA. On-demand $299.00 14
Title Formation and structure of a NAIP5-NLRC4 inflammasome induced by direct interactions with conserved N- and C-terminal regions of flagellin .
Author Halff,E.F., Diebolder,C.A., Versteeg,M., Schouten,A., Brondijk,T.H. and Huizinga,E.G.
Journal J. Biol. Chem. 287 (46), 38460-38472 (2012)
Title Correlation of SMN2, NAIP, p44, H4F5 and Occludin genes copy number with spinal muscular atrophy phenotype in Tunisian patients .
Author Amara,A., Adala,L., Ben Charfeddine,I., Mamai,O., Mili,A., Lazreg,T.B., H'mida,D., Amri,F., Salem,N., Boughammura,L., Saad,A. and Gribaa,M.
Journal Eur. J. Paediatr. Neurol. 16 (2), 167-174 (2012)
Title Population variation in NAIP functional copy number confers increased cell death upon Legionella pneumophila infection .
Author Boniotto,M., Tailleux,L., Lomma,M., Gicquel,B., Buchrieser,C., Garcia,S. and Quintana-Murci,L.
Journal Hum. Immunol. 73 (2), 196-200 (2012)
Title Integrity of ATP binding site is essential for effective inhibition of the intrinsic apoptosis pathway by NAIP .
Author Karimpour,S., Davoodi,J. and Ghahremani,M.H.
Journal Biochem. Biophys. Res. Commun. 407 (1), 158-162 (2011)
Title Neuronal apoptosis inhibitory protein, NAIP, is an inhibitor of procaspase-9 .
Author Davoodi,J., Ghahremani,M.H., Es-Haghi,A., Mohammad-Gholi,A. and Mackenzie,A.
Journal Int. J. Biochem. Cell Biol. 42 (6), 958-964 (2010)
Title Identification of two distinct transcripts for the neuronal apoptosis inhibitory protein gene .
Author Yamamoto,K., Sakai,H., Hadano,S., Gondo,Y. and Ikeda,J.E.
Journal Biochem. Biophys. Res. Commun. 264 (3), 998-1006 (1999)
Title A single nucleotide difference that alters splicing patterns distinguishes the SMA gene SMN1 from the copy gene SMN2 .
Author Monani,U.R., Lorson,C.L., Parsons,D.W., Prior,T.W., Androphy,E.J., Burghes,A.H. and McPherson,J.D.
Journal Hum. Mol. Genet. 8 (7), 1177-1183 (1999)
Title Suppression of apoptosis in mammalian cells by NAIP and a related family of IAP genes .
Author Liston,P., Roy,N., Tamai,K., Lefebvre,C., Baird,S., Cherton-Horvat,G., Farahani,R., McLean,M., Ikeda,J.E., MacKenzie,A. and Korneluk,R.G.
Journal Nature 379 (6563), 349-353 (1996)
Title The gene for neuronal apoptosis inhibitory protein is partially deleted in individuals with spinal muscular atrophy .
Author Roy,N., Mahadevan,M.S., McLean,M., Shutler,G., Yaraghi,Z., Farahani,R., Baird,S., Besner-Johnston,A., Lefebvre,C., Kang,X. et al.
Journal Cell 80 (1), 167-178 (1995)
Title A provisional transcript map of the spinal muscular atrophy (SMA) critical region .
Author van der Steege,G., Draaijers,T.G., Grootscholten,P.M., Osinga,J., Anzevino,R., Velona,I., Den Dunnen,J.T., Scheffer,H., Brahe,C., van Ommen,G.J. et al.
Journal Eur. J. Hum. Genet. 3 (2), 87-95 (1995)


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