MADD

MADD
Identifikatori
Aliasi	MADD
Vanjski ID-jevi	OMIM: 603584 MGI: 2444672 HomoloGene: 14249 GeneCards: MADD
Lokacija gena (čovjek) Hrom. Hromosom 11 (čovjek) Bend 11p11.2 Početak 47,269,161 bp Kraj 47,330,031 bp
Lokacija gena (miš) Hrom. Hromosom 2 (miš) Bend 2|2 E1 Početak 91,137,360 bp Kraj 91,183,837 bp
Obrazac RNK ekspresije Više referentnih podataka o ekspresiji
Ontologija gena Molekularna funkcija • death receptor binding • guanyl-nucleotide exchange factor activity • protein kinase activator activity • GO:0001948, GO:0016582 vezivanje za proteine Ćelijska komponenta • integral component of membrane • membrana • ćelijska membrana • citoplazma • citosol Biološki proces • regulation of apoptotic process • regulation of extrinsic apoptotic signaling pathway • execution phase of apoptosis • regulation of tumor necrosis factor-mediated signaling pathway • regulation of Rab protein signal transduction • regulation of cell cycle • cell surface receptor signaling pathway • regulation of extrinsic apoptotic signaling pathway via death domain receptors • GO:0097285 apoptoza Izvori:Amigo / QuickGO
Ortolozi
Vrste	Čovjek	Miš
Entrez	8567	228355
Ensembl	ENSG00000110514	ENSMUSG00000040687
UniProt	Q8WXG6	Q80U28
RefSeq (mRNK)	NM_001135943 NM_001135944 NM_003682 NM_130470 NM_130471 NM_130472 NM_130473 NM_130474 NM_130475 NM_130476	NM_001177719 NM_001177720 NM_001177721 NM_001177722 NM_001177723 NM_001177724 NM_001177725 NM_001177726 NM_001177727 NM_001177728 NM_001177729 NM_145527
RefSeq (bjelančevina)	NP_001129415 NP_001129416 NP_003673 NP_569826 NP_569827 NP_569828 NP_569829 NP_569830 NP_569831 NP_569832 NP_001363500 NP_001363501 NP_001363502 NP_001363503 NP_001363504 NP_001363505 NP_001363506 NP_001363507 NP_001363508 NP_001363509 NP_001363510 NP_001363511 NP_001363512 NP_001363513 NP_001363514 NP_001363515 NP_001363522 NP_001363523 NP_001363524 NP_001363525 NP_001363526 NP_001363527 NP_001363528 NP_001363529 NP_001363530 NP_001363531 NP_001363532 NP_001363533 NP_001363534 NP_001363535 NP_001363536 NP_001363537 NP_001363538 NP_001363539 NP_001363540 NP_001363541 NP_001363542 NP_001363543 NP_001363544 NP_001363545 NP_001363546 NP_001363547 NP_001363548 NP_001363549 NP_001363550 NP_001363551 NP_001363552 NP_001363553 NP_001363554 NP_001363555 NP_001363556 NP_001363557 NP_001363558 NP_001363559 NP_001363560 NP_001363561 NP_001363562 NP_001363563 NP_001363564 NP_001363565 NP_001363566 NP_001363567 NP_001363568 NP_001363569 NP_001363570 NP_001363571 NP_001363572 NP_001363573 NP_001363574 NP_001363575 NP_001363576 NP_001363577 NP_001363578 NP_001363579 NP_001363580 NP_001363581 NP_001363582 NP_001363583 NP_001363584 NP_001363585 NP_001363586 NP_001363587 NP_001363588 NP_001363589 NP_001363590 NP_001363591 NP_001363592	NP_001171190 NP_001171191 NP_663502
Lokacija (UCSC)	Chr 11: 47.27 – 47.33 Mb	Chr 2: 91.14 – 91.18 Mb
PubMed pretraga
Wikipodaci
Pogledaj/uredi – čovjek Pogledaj/uredi – miš

Protein MAP kinaza aktivirajućeg domena ćelijske smrti je enzim koji je kod ljudi kodiran genom MADD.

Faktor tumorske nekroze alfa (TNF-alfa) je signalna molekul kojA stupa u interakciju s jednim od dva receptora na ciljanim ćelijama za apoptozu. ApoptotSki signal se transducira unutar ovih ćelija pomoću citoplazmatskih proteinSKIH adaptera. Protein kodiran ovim genom je adapterski protein koji sadrži domen smrti i koji stupa u interakciju s domenom smrti TNF-alfa receptora 1, kako bi aktivirao mitogen-aktiviranu protein-kinazu (MAPK) i proširio apoptotski signal. Vezan je za membranu i eksprimiran je na većem nivou u neoplazijskim ćelijama nego u normalnim ćelijama. Za ovaj gen opisano je nekoliko varijanti transkripta koje kodiraju različite izoforme.

Aminokiselinska sekvenca

Dužina polipeptidnog lanca je 1647 aminokiselina, a molekulska težina 183.303 Da.

10		20		30		40		50
MVQKKKFCPR		LLDYLVIVGA		RHPSSDSVAQ		TPELLRRYPL		EDHTEFPLPP
DVVFFCQPEG		CLSVRQRRMS		LRDDTSFVFT		LTDKDTGVTR		YGICVNFYRS
FQKRISKEKG		EGGAGSRGKE		GTHATCASEE		GGTESSESGS		SLQPLSADST
PDVNQSPRGK		RRAKAGSRSR		NSTLTSLCVL		SHYPFFSTFR		ECLYTLKRLV
DCCSERLLGK		KLGIPRGVQR		DTMWRIFTGS		LLVEEKSSAL		LHDLREIEAW
IYRLLRSPVP		VSGQKRVDIE		VLPQELQPAL		TFALPDPSRF		TLVDFPLHLP
LELLGVDACL		QVLTCILLEH		KVVLQSRDYN		ALSMSVMAFV		AMIYPLEYMF
PVIPLLPTCM		ASAEQLLLAP		TPYIIGVPAS		FFLYKLDFKM		PDDVWLVDLD
SNRVIAPTNA		EVLPILPEPE		SLELKKHLKQ		ALASMSLNTQ		PILNLEKFHE
GQEIPLLLGR		PSNDLQSTPS		TEFNPLIYGN		DVDSVDVATR		VAMVRFFNSA
NVLQGFQMHT		RTLRLFPRPV		VAFQAGSFLA		SRPRQTPFAE		KLARTQAVEY
FGEWILNPTN		YAFQRIHNNM		FDPALIGDKP		KWYAHQLQPI		HYRVYDSNSQ
LAEALSVPPE		RDSDSEPTDD		SGSDSMDYDD		SSSSYSSLGD		FVSEMMKCDI
NGDTPNVDPL		THAALGDASE		VEIDELQNQK		EAEEPGPDSE		NSQENPPLRS
SSSTTASSSP		STVIHGANSE		PADSTEMDDK		AAVGVSKPLP		SVPPSIGKSN
VDRRQAEIGE		GSVRRRIYDN		PYFEPQYGFP		PEEDEDEQGE		SYTPRFSQHV
SGNRAQKLLR		PNSLRLASDS		DAESDSRASS		PNSTVSNTST		EGFGGIMSFA
SSLYRNHSTS		FSLSNLTLPT		KGAREKATPF		PSLKVFGLNT		LMEIVTEAGP
GSGEGNRRAL		VDQKSSVIKH		SPTVKREPPS		PQGRSSNSSE		NQQFLKEVVH
SVLDGQGVGW		LNMKKVRRLL		ESEQLRVFVL		SKLNRMVQSE		DDARQDIIPD
VEISRKVYKG		MLDLLKCTVL		SLEQSYAHAG		LGGMASIFGL		LEIAQTHYYS
KEPDKRKRSP		TESVNTPVGK		DPGLAGRGDP		KAMAQLRVPQ		LGPRAPSATG
KGPKELDTRS		LKEENFIASI		ELWNKHQEVK		KQKALEKQRP		EVIKPVFDLG
ETEEKKSQIS		ADSGVSLTSS		SQRTDQDSVI		GVSPAVMIRS		SSQDSEVSTV
VSNSSGETLG		ADSDLSSNAG		DGPGGEGSVH		LASSRGTLSD		SEIETNSATS
TIFGKAHSLK		PSIKEKLAGS		PIRTSEDVSQ		RVYLYEGLLG		RDKGSMWDQL
EDAAMETFSI		SKERSTLWDQ		MQFWEDAFLD		AVMLEREGMG		MDQGPQEMID
RYLSLGEHDR		KRLEDDEDRL		LATLLHNLIS		YMLLMKVNKN		DIRKKVRRLM
GKSHIGLVYS		QQINEVLDQL		ANLNGRDLSI		WSSGSRHMKK		QTFVVHAGTD
TNGDIFFMEV		CDDCVVLRSN		IGTVYERWWY		EKLINMTYCP		KTKVLCLWRR
NGSETQLNKF		YTKKCRELYY		CVKDSMERAA		ARQQSIKPGP		ELGGEFPVQD
LKTGEGGLLQ		VTLEGINLKF		MHNQVFIELN		HIKKCNTVRG		VFVLEEFVPE
IKEVVSHKYK		TPMAHEICYS		VLCLFSYVAA		VHSSEEDLRT		PPRPVSS

• 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

Dopunska literatura

• Chow VT, Lee SS (1997). "DENN, a novel human gene differentially expressed in normal and neoplastic cells". DNA Seq. 6 (5): 263–73. doi:10.3109/10425179609020873. PMID 8988362.
• Nagase T, Ishikawa K, Nakajima D, et al. (1997). "Prediction of the coding sequences of unidentified human genes. VII. The complete sequences of 100 new cDNA clones from brain which can code for large proteins in vitro". DNA Res. 4 (2): 141–50. doi:10.1093/dnares/4.2.141. PMID 9205841.
• Zhang Y, Zhou L, Miller CA (1998). "A splicing variant of a death domain protein that is regulated by a mitogen-activated kinase is a substrate for c-Jun N-terminal kinase in the human central nervous system". Proc. Natl. Acad. Sci. U.S.A. 95 (5): 2586–91. doi:10.1073/pnas.95.5.2586. PMC 19423. PMID 9482930.
• Suzuki Y, Ishihara D, Sasaki M, et al. (2000). "Statistical analysis of the 5' untranslated region of human mRNA using "Oligo-Capped" cDNA libraries". Genomics. 64 (3): 286–97. doi:10.1006/geno.2000.6076. PMID 10756096.
• Telliez JB, Bean KM, Lin LL (2000). "LRDD, a novel leucine rich repeat and death domain containing protein". Biochim. Biophys. Acta. 1478 (2): 280–8. doi:10.1016/S0167-4838(00)00029-7. PMID 10825539.
• Iwasaki K, Toyonaga R (2000). "The Rab3 GDP/GTP exchange factor homolog AEX-3 has a dual function in synaptic transmission". EMBO J. 19 (17): 4806–16. doi:10.1093/emboj/19.17.4806. PMC 302062. PMID 10970871.
• Al-Zoubi AM, Efimova EV, Kaithamana S, et al. (2002). "Contrasting effects of IG20 and its splice isoforms, MADD and DENN-SV, on tumor necrosis factor alpha-induced apoptosis and activation of caspase-8 and -3". J. Biol. Chem. 276 (50): 47202–11. doi:10.1074/jbc.M104835200. PMID 11577081.
• Lim KM, Chow VT (2002). "Induction of marked apoptosis in mammalian cancer cell lines by antisense DNA treatment to abolish expression of DENN (differentially expressed in normal and neoplastic cells)". Mol. Carcinog. 35 (3): 110–26. doi:10.1002/mc.10082. PMID 12410563. S2CID 21107199.
• Nakayama M, Kikuno R, Ohara O (2003). "Protein–Protein Interactions Between Large Proteins: Two-Hybrid Screening Using a Functionally Classified Library Composed of Long cDNAs". Genome Res. 12 (11): 1773–84. doi:10.1101/gr.406902. PMC 187542. PMID 12421765.
• 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. doi:10.1073/pnas.242603899. PMC 139241. PMID 12477932.
• Efimova E, Martinez O, Lokshin A, et al. (2004). "IG20, a MADD splice variant, increases cell susceptibility to gamma-irradiation and induces soluble mediators that suppress tumor cell growth". Cancer Res. 63 (24): 8768–76. PMID 14695193.
• Efimova EV, Al-Zoubi AM, Martinez O, et al. (2004). "IG20, in contrast to DENN-SV, (MADD splice variants) suppresses tumor cell survival, and enhances their susceptibility to apoptosis and cancer drugs". Oncogene. 23 (5): 1076–87. doi:10.1038/sj.onc.1207210. PMID 14716293.
• Lim KM, Yeo WS, Chow VT (2004). "Antisense abrogation of DENN expression induces apoptosis of leukemia cells in vitro, causes tumor regression in vivo and alters the transcription of genes involved in apoptosis and the cell cycle". Int. J. Cancer. 109 (1): 24–37. doi:10.1002/ijc.11660. PMID 14735464. S2CID 10327890.
• Del Villar K, Miller CA (2004). "Down-regulation of DENN/MADD, a TNF receptor binding protein, correlates with neuronal cell death in Alzheimer's disease brain and hippocampal neurons". Proc. Natl. Acad. Sci. U.S.A. 101 (12): 4210–5. doi:10.1073/pnas.0307349101. PMC 384720. PMID 15007167.
• Xu Y, Kulkosky J, Acheampong E, et al. (2004). "HIV-1-mediated apoptosis of neuronal cells: Proximal molecular mechanisms of HIV-1-induced encephalopathy". Proc. Natl. Acad. Sci. U.S.A. 101 (18): 7070–5. doi:10.1073/pnas.0304859101. PMC 406467. PMID 15103018.
• Ramaswamy M, Efimova EV, Martinez O, et al. (2005). "IG20 (MADD splice variant-5), a proapoptotic protein, interacts with DR4/DR5 and enhances TRAIL-induced apoptosis by increasing recruitment of FADD and caspase-8 to the DISC". Oncogene. 23 (36): 6083–94. doi:10.1038/sj.onc.1207804. PMID 15208670.
• Gerhard DS, Wagner L, Feingold EA, et al. (2004). "The Status, Quality, and Expansion of the NIH Full-Length cDNA Project: The Mammalian Gene Collection (MGC)". Genome Res. 14 (10B): 2121–7. doi:10.1101/gr.2596504. PMC 528928. PMID 15489334.
• Hu YF, Zhang HL, Cai T, et al. (2006). "The IA-2 interactome" (PDF). Diabetologia. 48 (12): 2576–81. doi:10.1007/s00125-005-0037-y. PMID 16273344. S2CID 9765497.