MLSTD2

MLSTD2
Identifikatori
Aliasi	FAR1
Vanjski ID-jevi	OMIM: 616107 MGI: 1914670 HomoloGene: 41718 GeneCards: FAR1
Lokacija gena (čovjek)
Hrom.	Hromosom 11 (čovjek)
Kraj	13,732,346 bp
Lokacija gena (miš)
Hrom.	Hromosom 7 (miš)
Kraj	113,170,718 bp
Ontologija gena
Molekularna funkcija	• fatty-acyl-CoA reductase (alcohol-forming) activity; • oxidoreductase activity; • alcohol-forming fatty acyl-CoA reductase activity;
Ćelijska komponenta	• integral component of membrane; • peroxisomal membrane; • Peroksisom; • peroxisomal matrix; • membrana; • integral component of peroxisomal membrane;
Biološki proces	• glycerophospholipid biosynthetic process; • long-chain fatty-acyl-CoA metabolic process; • lipid metabolism; • ether lipid biosynthetic process; • wax biosynthetic process;
	Izvori:Amigo / QuickGO
Ortolozi
	84188
	67420
	ENSG00000197601
	ENSMUSG00000030759
	Q8WVX9
	Q922J9
	NM_032228
	NM_001285831; NM_026143; NM_027379; NM_001360668; NM_001360669
	NP_115604
	NP_001272760; NP_081655; NP_001347597; NP_001347598
	Wikipodaci
Pogledaj/uredi – čovjek	Pogledaj/uredi – miš

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Masna acil-CoA reduktaza 1 je enzim koji je kod ljudi kodiran genom FAR1.^[5]^[6]^[7]^[8]

Protein kodiran ovim genom potreban je za redukcija masnih kiselina u masne alkohole, proces koji je potreban za sintezu monoestra i eterskih lipida. U ovoj reakciji potreban je NADPH, kao kofaktor, a 16-18 zasićen ugljikom, a nezasićene masne kiseline su preferirani supstrat. Ovo je proteina peroksisomske membrane, a studije ukazuju na to da N-kraj sadrži veliki katalitski domen koji se nalazi s vanjske strane peroksisoma, dok je C-kraj izložen peroksisomskoj matrici.

Studije ukazuju da je regulacija ovoga proteini zavisi od nivoa plazmaloga. Mutacije u ovom genu bile su povezane sa osobama koji su teško pogođene intelektualnom invalidnošću, ranom epilepsijom, mikrocefalijom, kongenitalnim kataraktom, usporavanjem rasta i spastičnošću (PMID 25439727). Pseudogen ovog gena nalazi se na hromosomu 13.

Aminokiselinska sekvenca

Dužina polipeptidnog lanca je 515 aminokiselina, a molekulska težina 59.357 Da.^[9]

10	20	30	40	50
MVSIPEYYEG	KNVLLTGATG	FLGKVLLEKL	LRSCPKVNSV	YVLVRQKAGQ
TPQERVEEVL	SGKLFDRLRD	ENPDFREKII	AINSELTQPK	LALSEEDKEV
IIDSTNIIFH	CAATVRFNEN	LRDAVQLNVI	ATRQLILLAQ	QMKNLEVFMH
VSTAYAYCNR	KHIDEVVYPP	PVDPKKLIDS	LEWMDDGLVN	DITPKLIGDR
PNTYIYTKAL	AEYVVQQEGA	KLNVAIVRPS	IVGASWKEPF	PGWIDNFNGP
SGLFIAAGKG	ILRTIRASNN	ALADLVPVDV	VVNMSLAAAW	YSGVNRPRNI
MVYNCTTGST	NPFHWGEVEY	HVISTFKRNP	LEQAFRRPNV	NLTSNHLLYH
YWIAVSHKAP	AFLYDIYLRM	TGRSPRMMKT	ITRLHKAMVF	LEYFTSNSWV
WNTENVNMLM	NQLNPEDKKT	FNIDVRQLHW	AEYIENYCLG	TKKYVLNEEM
SGLPAARKHL	NKLRNIRYGF	NTILVILIWR	IFIARSQMAR	NIWYFVVSLC
YKFLSYFRAS	STMRY

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

Reference

^ ^a ^b ^c GRCh38: Ensembl release 89: ENSG00000197601 - Ensembl, maj 2017
^ ^a ^b ^c GRCm38: Ensembl release 89: ENSMUSG00000030759 - 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.
^ Cheng JB, Russell DW (Aug 2004). "Mammalian wax biosynthesis. I. Identification of two fatty acyl-Coenzyme A reductases with different substrate specificities and tissue distributions". J Biol Chem. 279 (36): 37789–97. doi:10.1074/jbc.M406225200. PMC 2757098. PMID 15220348.
^ Cheng JB, Russell DW (Aug 2004). "Mammalian wax biosynthesis. II. Expression cloning of wax synthase cDNAs encoding a member of the acyltransferase enzyme family". J Biol Chem. 279 (36): 37798–807. doi:10.1074/jbc.M406226200. PMC 2743083. PMID 15220349.
^ Persson B, Kallberg Y, Bray JE, Bruford E, Dellaporta SL, Favia AD, Duarte RG, Jornvall H, Kavanagh KL, Kedishvili N, Kisiela M, Maser E, Mindnich R, Orchard S, Penning TM, Thornton JM, Adamski J, Oppermann U (Feb 2009). "The SDR (short-chain dehydrogenase/reductase and related enzymes) nomenclature initiative". Chem Biol Interact. 178 (1–3): 94–8. doi:10.1016/j.cbi.2008.10.040. PMC 2896744. PMID 19027726.
^ "Entrez Gene: MLSTD2 male sterility domain containing 2".
^ "UniProt, Q8WVX9". Pristupljeno 22. 8. 2021.

Dopunska literatura

Ewing RM, Chu P, Elisma F, et al. (2007). "Large-scale mapping of human protein-protein interactions by mass spectrometry". Mol. Syst. Biol. 3 (1): 89. doi:10.1038/msb4100134. PMC 1847948. PMID 17353931.
Foster LJ, Rudich A, Talior I, et al. (2006). "Insulin-dependent interactions of proteins with GLUT4 revealed through stable isotope labeling by amino acids in cell culture (SILAC)". J. Proteome Res. 5 (1): 64–75. doi:10.1021/pr0502626. PMID 16396496.
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.
Ota T, Suzuki Y, Nishikawa T, et al. (2004). "Complete sequencing and characterization of 21,243 full-length human cDNAs". Nat. Genet. 36 (1): 40–5. doi:10.1038/ng1285. PMID 14702039.
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.
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.

Vanjski linkovi

[refGRCh38Ensembl-1] GRCh38: Ensembl release 89: ENSG00000197601 - Ensembl, maj 2017

[refGRCm38Ensembl-2] GRCm38: Ensembl release 89: ENSMUSG00000030759 - 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.

[pmid15220348-5] Cheng JB, Russell DW (Aug 2004). "Mammalian wax biosynthesis. I. Identification of two fatty acyl-Coenzyme A reductases with different substrate specificities and tissue distributions". J Biol Chem. 279 (36): 37789–97. doi:10.1074/jbc.M406225200. PMC 2757098. PMID 15220348.

[pmid15220349-6] Cheng JB, Russell DW (Aug 2004). "Mammalian wax biosynthesis. II. Expression cloning of wax synthase cDNAs encoding a member of the acyltransferase enzyme family". J Biol Chem. 279 (36): 37798–807. doi:10.1074/jbc.M406226200. PMC 2743083. PMID 15220349.

[pmid19027726-7] Persson B, Kallberg Y, Bray JE, Bruford E, Dellaporta SL, Favia AD, Duarte RG, Jornvall H, Kavanagh KL, Kedishvili N, Kisiela M, Maser E, Mindnich R, Orchard S, Penning TM, Thornton JM, Adamski J, Oppermann U (Feb 2009). "The SDR (short-chain dehydrogenase/reductase and related enzymes) nomenclature initiative". Chem Biol Interact. 178 (1–3): 94–8. doi:10.1016/j.cbi.2008.10.040. PMC 2896744. PMID 19027726.

[entrez-8] "Entrez Gene: MLSTD2 male sterility domain containing 2".

[UniProt-9] "UniProt, Q8WVX9". Pristupljeno 22. 8. 2021.

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p r u Enzimi
Teme	Aktivno mjesto Alosterna regulacija Difuzijski limitirani enzim EC broj Enzimska kataliza Inhibicija enzimskih reakcija Kinetika enzima Koenzim Kooperativnost Lineweaver–Burkov dijagram Michaelis–Mentenova kinetika Mjesto vezanja Spisak enzima
Tipovi	EC1 Oksidoreduktaze/spisak EC2 Transferaze/spisak EC3 Hidrolaze/spisak EC4 Lijaze/spisak EC5 Izomeraze/spisak EC6 Ligaze/spisak