ECEL1

ECEL1
Identifikatori
Aliasi	ECEL1
Vanjski ID-jevi	OMIM: 605896 MGI: 1343461 HomoloGene: 3549 GeneCards: ECEL1
Lokacija gena (čovjek)
Hrom.	Hromosom 2 (čovjek)
Kraj	232,487,834 bp
Lokacija gena (miš)
Hrom.	Hromosom 1 (miš)
Kraj	87,084,243 bp
Obrazac RNK ekspresije
	Više referentnih podataka o ekspresiji
Ontologija gena
Molekularna funkcija	• GO:0070122 peptidase activity; • metalloendopeptidase activity; • hydrolase activity; • metallopeptidase activity; • vezivanje iona metala;
Ćelijska komponenta	• integral component of membrane; • integral component of plasma membrane; • membrana;
Biološki proces	• respiratory system process; • neuropeptide signaling pathway; • Proteoliza;
	Izvori:Amigo / QuickGO
Ortolozi
	9427
	13599
	ENSG00000171551
	ENSMUSG00000026247
	O95672
	Q9JMI0
	NM_004826; NM_001290787
	NM_001277925; NM_021306
	NP_001277716; NP_004817
	NP_001264854; NP_067281
	Wikipodaci
Pogledaj/uredi – čovjek	Pogledaj/uredi – miš

Endotelin-konvertirajući enzimoliki protein 1 jest protein koji je kod ljudi kodiran genom ECEL1 sa hromosoma 2.^[5]^[6]^[7]

Amiokiselininska sekvenca

Dužina polipeptidnog lanca je 775 aminokiselina, a molekulska težina 87.791 Da.^[8]

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
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

Funkcija

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]

Reference

^ ^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.

Dopunska literatura

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.

[refGRCh38Ensembl-1] GRCh38: Ensembl release 89: ENSG00000171551 - Ensembl, maj 2017

[refGRCm38Ensembl-2] GRCm38: Ensembl release 89: ENSMUSG00000026247 - 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.

[pmid9931490-5] 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.

[pmid11352565-6] 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.

[entrez-7] "Entrez Gene: ECEL1 endothelin converting enzyme-like 1".

[UniProt-8] "UniProt, O95672" (jezik: engleski). Pristupljeno 17. 11. 2021.

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