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Endotelin -konvertirajući enzimoliki protein 1protein koji je kod ljudi kodiran genom ECEL1 sa hromosoma 2 .[ 5] [ 6] [ 7]
Dužina polipeptidnog lanca je 775 aminokiselina , a molekulska težina 87.791 Da .[ 8]
10 20 30 40 50 MEPPYSLTAH YDEFQEVKYV SRCGAGGARG ASLPPGFPLG AARSATGARS GLPRWNRREV CLLSGLVFAA GLCAILAAML ALKYLGPVAA GGGACPEGCP ERKAFARAAR FLAANLDASI DPCQDFYSFA CGGWLRRHAI PDDKLTYGTI AAIGEQNEER LRRLLARPGG GPGGAAQRKV RAFFRSCLDM REIERLGPRP MLEVIEDCGG WDLGGAEERP GVAARWDLNR LLYKAQGVYS AAALFSLTVS LDDRNSSRYV IRIDQDGLTL PERTLYLAQD EDSEKILAAY RVFMERVLSL LGADAVEQKA QEILQVEQQL ANITVSEHDD LRRDVSSMYN KVTLGQLQKI TPHLRWKWLL DQIFQEDFSE EEEVVLLATD YMQQVSQLIR STPHRVLHNY LVWRVVVVLS EHLSPPFREA LHELAQEMEG SDKPQELARV CLGQANRHFG MALGALFVHE HFSAASKAKV QQLVEDIKYI LGQRLEELDW MDAETRAAAR AKLQYMMVMV GYPDFLLKPD AVDKEYEFEV HEKTYFKNIL NSIRFSIQLS VKKIRQEVDK STWLLPPQAL NAYYLPNKNQ MVFPAGILQP TLYDPDFPQS LNYGGIGTII GHELTHGYDD WGGQYDRSGN LLHWWTEASY SRFLRKAECI VRLYDNFTVY NQRVNGKHTL GENIADMGGL KLAYHAYQKW VREHGPEHPL PRLKYTHDQL FFIAFAQNWC IKRRSQSIYL QVLTDKHAPE HYRVLGSVSQ FEEFGRAFHC PKDSPMNPAH KCSVW
Ovaj gen kodira člana porodice srodne neutralnoj endopeptidazi (NEP). Izražava se specifično u nervnom sistemu . Poremećaj gena u mišjim embrionskim matičnim ćelijama rezultira neonatusom smrtnošću zbog respiratorne insuficijencije ubrzo nakon rođenja. Na osnovu specifične ekspresije ovog gena i fenotipa u nedostatku gena u mišjim embrionima, sugerira se da protein kodiran ovim genom ima ključnu ulogu u nervnoj regulaciji respiratornog sistema .[ 7]
^ a b c GRCh38: Ensembl release 89: ENSG00000171551 - Ensembl , maj 2017^ a b c GRCm38: Ensembl release 89: ENSMUSG00000026247 - 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 .^ Valdenaire O, Richards JG, Faull RL, Schweizer A (Mar 1999). "XCE, a new member of the endothelin-converting enzyme and neutral endopeptidase family, is preferentially expressed in the CNS". Brain Res Mol Brain Res . 64 (2): 211–21. doi :10.1016/S0169-328X(98)00321-0 . PMID 9931490 . ^ Rump A, Kasper G, Hayes C, Wen G, Starke H, Liehr T, Lehmann R, Lagemann D, Rosenthal A (maj 2001). "Complex arrangement of genes within a 220-kb region of double-duplicated DNA on human 2q37.1". Genomics . 73 (1): 50–5. doi :10.1006/geno.2000.6504 . PMID 11352565 . ^ a b "Entrez Gene: ECEL1 endothelin converting enzyme-like 1" .^ "UniProt, O95672" (jezik: engleski). Pristupljeno 17. 11. 2021 .
Valdenaire O, Rohrbacher E, Langeveld A, et al. (2000). "Organization and chromosomal localization of the human ECEL1 (XCE) gene encoding a zinc metallopeptidase involved in the nervous control of respiration" . Biochem. J . 346 Pt 3 (3): 611–6. doi :10.1042/0264-6021:3460611 . PMC 1220892 PMID 10698686 . 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 . Kawamoto T, Ohira M, Hamano S, et al. (2003). "High expression of the novel endothelin-converting enzyme genes, Nbla03145/ECEL1alpha and beta, is associated with favorable prognosis in human neuroblastomas". Int. J. Oncol . 22 (4): 815–22. doi :10.3892/ijo.22.4.815 . PMID 12632073 . Clark HF, Gurney AL, Abaya E, et al. (2003). "The secreted protein discovery initiative (SPDI), a large-scale effort to identify novel human secreted and transmembrane proteins: a bioinformatics assessment" . Genome Res . 13 (10): 2265–70. doi :10.1101/gr.1293003 . PMC 403697 PMID 12975309 . Benoit A, Vargas MA, Desgroseillers L, Boileau G (2004). "Endothelin-converting enzyme-like 1 (ECEL1) is present both in the plasma membrane and in the endoplasmic reticulum" . Biochem. J . 380 (Pt 3): 881–8. doi :10.1042/BJ20040215 . PMC 1224203 PMID 14992683 . 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 . Hillier LW, Graves TA, Fulton RS, et al. (2005). "Generation and annotation of the DNA sequences of human chromosomes 2 and 4" . Nature . 434 (7034): 724–31. doi :10.1038/nature03466 PMID 15815621 .
