MMEL1

MMEL1
Identifikatori
Aliasi	MMEL1
Vanjski ID-jevi	OMIM: 618104 MGI: 1351603 HomoloGene: 22778 GeneCards: MMEL1
Lokacija gena (čovjek)
Hrom.	Hromosom 1 (čovjek)
Kraj	2,633,016 bp
Lokacija gena (miš)
Hrom.	Hromosom 4 (miš)
Kraj	154,979,985 bp
Ontologija gena
Molekularna funkcija	• GO:0070122 peptidase activity; • metalloendopeptidase activity; • hydrolase activity; • metallopeptidase activity; • vezivanje iona metala; • endopeptidase activity;
Ćelijska komponenta	• integral component of membrane; • extracellular region; • membrana; • Vanćelijsko;
Biološki proces	• Proteoliza;
	Izvori:Amigo / QuickGO
Ortolozi
	79258
	27390
	ENSG00000142606; ENSG00000277131
	ENSMUSG00000058183
	Q495T6
	Q9JLI3
	NM_033467
	NM_013783
	NP_258428
	NP_038811
	Wikipodaci
Pogledaj/uredi – čovjek	Pogledaj/uredi – miš

Membranski metalo-endopeptidazoliki protein 1 jest protein koji je kod ljudi kodiran genom MMEL1 sa hromosoma 1.^[5]

Aminokiselinska sekvenca uredi

Dužina polipeptidnog lanca je 779 aminokiselina, a molekulska težina 89.367 Da.^[6].

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
MGKSEGPVGM	VESAGRAGQK	RPGFLEGGLL	LLLLLVTAAL	VALGVLYADR
RGKQLPRLAS	RLCFLQEERT	FVKRKPRGIP	EAQEVSEVCT	TPGCVIAAAR
ILQNMDPTTE	PCDDFYQFAC	GGWLRRHVIP	ETNSRYSIFD	VLRDELEVIL
KAVLENSTAK	DRPAVEKART	LYRSCMNQSV	IEKRGSQPLL	DILEVVGGWP
VAMDRWNETV	GLEWELERQL	ALMNSQFNRR	VLIDLFIWND	DQNSSRHIIY
IDQPTLGMPS	REYYFNGGSN	RKVREAYLQF	MVSVATLLRE	DANLPRDSCL
VQEDMVQVLE	LETQLAKATV	PQEERHDVIA	LYHRMGLEEL	QSQFGLKGFN
WTLFIQTVLS	SVKIKLLPDE	EVVVYGIPYL	QNLENIIDTY	SARTIQNYLV
WRLVLDRIGS	LSQRFKDTRV	NYRKALFGTM	VEEVRWRECV	GYVNSNMENA
VGSLYVREAF	PGDSKSMVRE	LIDKVRTVFV	ETLDELGWMD	EESKKKAQEK
AMSIREQIGH	PDYILEEMNR	RLDEEYSNLN	FSEDLYFENS	LQNLKVGAQR
SLRKLREKVD	PNLWIIGAAV	VNAFYSPNRN	QIVFPAGILQ	PPFFSKEQPQ
ALNFGGIGMV	IGHEITHGFD	DNGRNFDKNG	NMMDWWSNFS	TQHFREQSEC
MIYQYGNYSW	DLADEQNVNG	FNTLGENIAD	NGGVRQAYKA	YLKWMAEGGK
DQQLPGLDLT	HEQLFFINYA	QVWCGSYRPE	FAIQSIKTDV	HSPLKYRVLG
SLQNLAAFAD	TFHCARGTPM	HPKERCRVW

Funkcija uredi

Protein kodiran ovim genom je član porodice nervnih endopeptidaza (NEP) ili membranskih endopeptidaza (MME). Članovi porodice imaju važnu ulogu u percepciji bola, regulaciji arterijskog pritiska, metabolizmu fosfata i homeostazi. Ovaj protein je transmembranski tipa II i smatra se da se eksprimira kao izlučeni protein. Ovaj gen je izražen uglavnom u sjemenicima sa slabom ekspresijom u mozgu, bubrezima i srcu.

Reference uredi

^ ^a ^b ^c ENSG00000277131 GRCh38: Ensembl release 89: ENSG00000142606, ENSG00000277131 - Ensembl, maj 2017
^ ^a ^b ^c GRCm38: Ensembl release 89: ENSMUSG00000058183 - 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.
^ "Entrez Gene: Membrane metallo-endopeptidase-like 1".
^ "UniProt, Q495T6" (jezik: eng.). Pristupljeno 1. 12. 2021.CS1 održavanje: nepoznati jezik (link)

Dopunska literatura uredi

Whyteside AR, Turner AJ (juli 2008). "Human neprilysin-2 (NEP2) and NEP display distinct subcellular localisations and substrate preferences". FEBS Letters. 582 (16): 2382–6. doi:10.1016/j.febslet.2008.05.046. PMID 18539150.
Danoy P, Wei M, Johanna H, Jiang L, He D, Sun L, Zeng X, Visscher PM, Brown MA, Xu H (oktobar 2011). "Association of variants in MMEL1 and CTLA4 with rheumatoid arthritis in the Han Chinese population". Annals of the Rheumatic Diseases. 70 (10): 1793–7. doi:10.1136/ard.2010.144576. PMID 21784728. S2CID 7394115.
Natunen T, Helisalmi S, Vepsäläinen S, Sarajärvi T, Antikainen L, Mäkinen P, Herukka SK, Koivisto AM, Haapasalo A, Soininen H, Hiltunen M (2012). "Genetic analysis of genes involved in amyloid-β degradation and clearance in Alzheimer's disease". Journal of Alzheimer's Disease. 28 (3): 553–9. doi:10.3233/JAD-2011-111109. PMID 22027013.
Hirschfield GM, Liu X, Han Y, Gorlov IP, Lu Y, Xu C, Lu Y, Chen W, Juran BD, Coltescu C, Mason AL, Milkiewicz P, Myers RP, Odin JA, Luketic VA, Speiciene D, Vincent C, Levy C, Gregersen PK, Zhang J, Heathcote EJ, Lazaridis KN, Amos CI, Siminovitch KA (august 2010). "Variants at IRF5-TNPO3, 17q12-21 and MMEL1 are associated with primary biliary cirrhosis". Nature Genetics. 42 (8): 655–7. doi:10.1038/ng.631. PMC 2929126. PMID 20639879.
Carpentier M, Guillemette C, Bailey JL, Boileau G, Jeannotte L, DesGroseillers L, Charron J (maj 2004). "Reduced fertility in male mice deficient in the zinc metallopeptidase NL1". Molecular and Cellular Biology. 24 (10): 4428–37. doi:10.1128/MCB.24.10.4428-4437.2004. PMC 400486. PMID 15121861.
Huang JY, Hafez DM, James BD, Bennett DA, Marr RA (2012). "Altered NEP2 expression and activity in mild cognitive impairment and Alzheimer's disease". Journal of Alzheimer's Disease. 28 (2): 433–41. doi:10.3233/JAD-2011-111307. PMC 3320721. PMID 22008264.
Hu Z, Xia Y, Guo X, Dai J, Li H, Hu H, Jiang Y, Lu F, Wu Y, Yang X, Li H, Yao B, Lu C, Xiong C, Li Z, Gui Y, Liu J, Zhou Z, Shen H, Wang X, Sha J (decembar 2011). "A genome-wide association study in Chinese men identifies three risk loci for non-obstructive azoospermia". Nature Genetics. 44 (2): 183–6. doi:10.1038/ng.1040. PMID 22197933. S2CID 5325489.

Ovaj članak uključuje tekst iz Nacionalne medicinske biblioteke Sjedinjenih Država, koji je u javnom vlasništvu.

[refGRCh38Ensembl-1] ENSG00000277131 GRCh38: Ensembl release 89: ENSG00000142606, ENSG00000277131 - Ensembl, maj 2017

[refGRCm38Ensembl-2] GRCm38: Ensembl release 89: ENSMUSG00000058183 - 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.

[entrez-5] "Entrez Gene: Membrane metallo-endopeptidase-like 1".

[UniProt-6] "UniProt, Q495T6" (jezik: eng.). Pristupljeno 1. 12. 2021.CS1 održavanje: nepoznati jezik (link)

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