NLRP7
NACHT, LRR i PYD protein 7 sa domenom jest protein koji je kod ljudi kodiran genom NLRP7 sa q kraka hromosoma 19.[3][4][5]
Aminokiselinska sekvenca[uredi | uredi izvor]
Dužina polipeptidnog lanca je 980 aminokiselina, a molekulska težina 111.807 Da.[5]
| 10 | 20 | 30 | 40 | 50 | ||||
|---|---|---|---|---|---|---|---|---|
| MTSPQLEWTL | QTLLEQLNED | ELKSFKSLLW | AFPLEDVLQK | TPWSEVEEAD | ||||
| GKKLAEILVN | TSSENWIRNA | TVNILEEMNL | TELCKMAKAE | MMEDGQVQEI | ||||
| DNPELGDAEE | DSELAKPGEK | EGWRNSMEKQ | SLVWKNTFWQ | GDIDNFHDDV | ||||
| TLRNQRFIPF | LNPRTPRKLT | PYTVVLHGPA | GVGKTTLAKK | CMLDWTDCNL | ||||
| SPTLRYAFYL | SCKELSRMGP | CSFAELISKD | WPELQDDIPS | ILAQAQRILF | ||||
| VVDGLDELKV | PPGALIQDIC | GDWEKKKPVP | VLLGSLLKRK | MLPRAALLVT | ||||
| TRPRALRDLQ | LLAQQPIYVR | VEGFLEEDRR | AYFLRHFGDE | DQAMRAFELM | ||||
| RSNAALFQLG | SAPAVCWIVC | TTLKLQMEKG | EDPVPTCLTR | TGLFLRFLCS | ||||
| RFPQGAQLRG | ALRTLSLLAA | QGLWAQMSVF | HREDLERLGV | QESDLRLFLD | ||||
| GDILRQDRVS | KGCYSFIHLS | FQQFLTALFY | ALEKEEGEDR | DGHAWDIGDV | ||||
| QKLLSGEERL | KNPDLIQVGH | FLFGLANEKR | AKELEATFGC | RMSPDIKQEL | ||||
| LQCKAHLHAN | KPLSVTDLKE | VLGCLYESQE | EELAKVVVAP | FKEISIHLTN | ||||
| TSEVMHCSFS | LKHCQDLQKL | SLQVAKGVFL | ENYMDFELDI | EFERCTYLTI | ||||
| PNWARQDLRS | LRLWTDFCSL | FSSNSNLKFL | EVKQSFLSDS | SVRILCDHVT | ||||
| RSTCHLQKVE | IKNVTPDTAY | RDFCLAFIGK | KTLTHLTLAG | HIEWERTMML | ||||
| MLCDLLRNHK | CNLQYLRLGG | HCATPEQWAE | FFYVLKANQS | LKHLRLSANV | ||||
| LLDEGAMLLY | KTMTRPKHFL | QMLSLENCRL | TEASCKDLAA | VLVVSKKLTH | ||||
| LCLAKNPIGD | TGVKFLCEGL | SYPDCKLQTL | VLQQCSITKL | GCRYLSEALQ | ||||
| EACSLTNLDL | SINQIARGLW | ILCQALENPN | CNLKHLRLKT | YETNLEIKKL | ||||
| LEEVKEKNPK | LTIDCNASGA | TAPPCCDFFC |
Funkcija[uredi | uredi izvor]
NALP su citoplazmatski proteini koji čine potporodicu unutar veće porodice proteina CATERPILLER. Većina kratkih NALP-ova, kao što je NALP7, ima N-terminal pirinski (MEFV) domen (PYD), a zatim NACHT domen, domen povezan sa NACHT (NAD), i C-terminalni region ponavljanja bogatog leucinom (LRR). NALP su uključeni u aktivaciju proupalnih kaspaza (npr. CASP1) putem njihovog uključivanja u multiproteinske komplekse zvane inflamasomi.[5]
Reference[uredi | uredi izvor]
- ^ a b c ENSG00000167634, ENSG00000278173, ENSG00000277179, ENSG00000274174, ENSG00000277776, ENSG00000277786, ENSG00000275483, ENSG00000277071, ENSG00000274571 GRCh38: Ensembl release 89: ENSG00000276804, ENSG00000167634, ENSG00000278173, ENSG00000277179, ENSG00000274174, ENSG00000277776, ENSG00000277786, ENSG00000275483, ENSG00000277071, ENSG00000274571 - Ensembl, maj 2017
- ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
- ^ Tschopp J, Martinon F, Burns K (Feb 2003). "NALPs: a novel protein family involved in inflammation". Nat Rev Mol Cell Biol. 4 (2): 95–104. doi:10.1038/nrm1019. PMID 12563287. S2CID 31417018.
- ^ Wang L, Manji GA, Grenier JM, Al-Garawi A, Merriam S, Lora JM, Geddes BJ, Briskin M, DiStefano PS, Bertin J (Aug 2002). "PYPAF7, a novel PYRIN-containing Apaf1-like protein that regulates activation of NF-kappa B and caspase-1-dependent cytokine processing". J Biol Chem. 277 (33): 29874–80. doi:10.1074/jbc.M203915200. PMID 12019269.
- ^ a b c "Entrez Gene: NLRP7 NLR family, pyrin domain containing 7".
Dopunska literatura[uredi | uredi izvor]
- Inohara N, Nuñez G (2003). "NODs: intracellular proteins involved in inflammation and apoptosis". Nat. Rev. Immunol. 3 (5): 371–82. doi:10.1038/nri1086. PMID 12766759. S2CID 8088987.
- Moglabey YB, Kircheisen R, Seoud M, et al. (1999). "Genetic mapping of a maternal locus responsible for familial hydatidiform moles". Hum. Mol. Genet. 8 (4): 667–71. doi:10.1093/hmg/8.4.667. PMID 10072436.
- Grenier JM, Wang L, Manji GA, et al. (2002). "Functional screening of five PYPAF family members identifies PYPAF5 as a novel regulator of NF-kappaB and caspase-1". FEBS Lett. 530 (1–3): 73–8. doi:10.1016/S0014-5793(02)03416-6. PMID 12387869. S2CID 25023390.
- Strausberg RL, Feingold EA, Grouse LH, et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. Bibcode:2002PNAS...9916899M. doi:10.1073/pnas.242603899. PMC 139241. PMID 12477932.
- Grimwood J, Gordon LA, Olsen A, et al. (2004). "The DNA sequence and biology of human chromosome 19". Nature. 428 (6982): 529–35. Bibcode:2004Natur.428..529G. doi:10.1038/nature02399. PMID 15057824.
- Okada K, Hirota E, Mizutani Y, et al. (2005). "Oncogenic role of NALP7 in testicular seminomas". Cancer Sci. 95 (12): 949–54. doi:10.1111/j.1349-7006.2004.tb03182.x. PMID 15596043. S2CID 13403889.
- Kinoshita T, Wang Y, Hasegawa M, et al. (2005). "PYPAF3, a PYRIN-containing APAF-1-like protein, is a feedback regulator of caspase-1-dependent interleukin-1beta secretion". J. Biol. Chem. 280 (23): 21720–5. doi:10.1074/jbc.M410057200. PMID 15817483.
- Murdoch S, Djuric U, Mazhar B, et al. (2006). "Mutations in NALP7 cause recurrent hydatidiform moles and reproductive wastage in humans". Nat. Genet. 38 (3): 300–2. doi:10.1038/ng1740. PMID 16462743. S2CID 28580007.
- Bestor TH, Bourc'his D (2006). "Genetics and epigenetics of hydatidiform moles". Nat. Genet. 38 (3): 274–6. doi:10.1038/ng0306-274. PMID 16501554. S2CID 22981053.
- Djuric U, El-Maarri O, Lamb B, et al. (2007). "Familial molar tissues due to mutations in the inflammatory gene, NALP7, have normal postzygotic DNA methylation". Hum. Genet. 120 (3): 390–5. doi:10.1007/s00439-006-0192-3. PMID 16874523. S2CID 10117000.
- Qian J, Deveault C, Bagga R, et al. (2007). "Women heterozygous for NALP7/NLRP7 mutations are at risk for reproductive wastage: report of two novel mutations". Hum. Mutat. 28 (7): 741. doi:10.1002/humu.9498. PMID 17579354. S2CID 43136262.