ACSF3

ACSF3
Identifikatori
Aliasi	ACSF3
Vanjski ID-jevi	OMIM: 614245 MGI: 2182591 HomoloGene: 14958 GeneCards: ACSF3
Lokacija gena (čovjek)
Hrom.	Hromosom 16 (čovjek)
Kraj	89,164,121 bp
Lokacija gena (miš)
Hrom.	Hromosom 8 (miš)
Kraj	122,817,880 bp
Ontologija gena
Molekularna funkcija	• nucleotide binding; • malonyl-CoA synthetase activity; • ligase activity; • ATP binding; • catalytic activity; • acid-thiol ligase activity; • very long-chain fatty acid-CoA ligase activity;
Ćelijska komponenta	• mitochondrial matrix; • mitohondrija;
Biološki proces	• malonate catabolic process; • metabolizam; • fatty acid biosynthetic process; • long-chain fatty-acyl-CoA biosynthetic process; • fatty acid metabolic process; • lipid metabolism;
	Izvori:Amigo / QuickGO
Ortolozi
	197322
	257633
	ENSG00000176715
	ENSMUSG00000015016
	Q4G176
	Q3URE1
	NM_001127214; NM_001243279; NM_001284316; NM_174917
	NM_144932
	NP_001120686; NP_001230208; NP_001271245; NP_777577
	NP_659181
	Wikipodaci
Pogledaj/uredi – čovjek	Pogledaj/uredi – miš

Član 3 porodice acil-CoA sintetaze jest enzim koji je kod ljudi kodiran genom ACSF3.^[5]

Struktura

Dužina polipeptidnog lanca je 576 aminokiselina, a molekulska težina 64.130 Da.^[6]

Simboli

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
MLPHVVLTFR	RLGCALASCR	LAPARHRGSG	LLHTAPVARS	DRSAPVFTRA
LAFGDRIALV	DQHGRHTYRE	LYSRSLRLSQ	EICRLCGCVG	GDLREERVSF
LCANDASYVV	AQWASWMSGG	VAVPLYRKHP	AAQLEYVICD	SQSSVVLASQ
EYLELLSPVV	RKLGVPLLPL	TPAIYTGAVE	EPAEVPVPEQ	GWRNKGAMII
YTSGTTGRPK	GVLSTHQNIR	AVVTGLVHKW	AWTKDDVILH	VLPLHHVHGV
VNALLCPLWV	GATCVMMPEF	SPQQVWEKFL	SSETPRINVF	MAVPTIYTKL
MEYYDRHFTQ	PHAQDFLRAV	CEEKIRLMVS	GSAALPLPVL	EKWKNITGHT
LLERYGMTEI	GMALSGPLTT	AVRLPGSVGT	PLPGVQVRIV	SENPQREACS
YTIHAEGDER	GTKVTPGFEE	KEGELLVRGP	SVFREYWNKP	EETKSAFTLD
GWFKTGDTVV	FKDGQYWIRG	RTSVDIIKTG	GYKVSALEVE	WHLLAHPSIT
DVAVIGVPDM	TWGQRVTAVV	TLREGHSLSH	RELKEWARNV	LAPYAVPSEL
VLVEEIPRNQ	MGKIDKKALI	RHFHPS

Gen ACSF3 nalazi se na hromosomu 16, a njegova specifična lokacija je 16q24.3. Gen sadrži 17 egzona.^[5] ASCL4 kodira protein od 64,1 kDa koji se sastoji od 576 aminokiselina; podaci dobijeni masenom spektrometrijom potvrđuju kodiranje 20 peptida.^[7]^[8]

Funkcija

Ovaj gen kodira člana porodice acetil-CoA sintetaza, enzima koji aktiviraju masne kiseline katalizirajući stvaranje tioesterske veze između masnih kiselina i koenzima A. Kodirani protein je lokaliziran u mitohondrijama, ima visoku specifičnost za malonat i metilmalonat i posjeduje aktivnost malonil-CoA sintetaze.^[5]

Klinički značaj

Pokazalo se da mutacije ovog gena uzrokuju kombinirani malonski i metilmalonski poremećaj zvani acidurija.^[9] Kombinirana malonska i metilmalonska acidurija (CMAMMA) je stanje koje karakteriziraju visoki nivoi malonske i metilmalonske kiseline, jer nedostaci u ovom genu uzrokuju da se ti metaboliti ne razgrađuju. Bolest se obično dijagnosticira genetičkim ispitivanjem ili višim nivoima metilmalonske od malonske kiseline u mokraći, iako su obje povišene. Poremećaj obično ima simptome u ranom djetinjstvu, prvo započinjući visokim nivoom kiseline u krvi (ketoacidoza). Poremećaj se može ispoljavai kao nehotično zatezanje mišića (distonija), slab tonus mišića (hipotonija), zastoj u razvoju, nemogućnost rasta i debljanja očekivanom brzinom (neuspjeh u napredovanju), nizak šećer u krvi (hipoglikemija) i koma. Neka pogođena djeca mogu čak imati i mikrocefaliju. Drugi ljudi sa CMAMMA ne razvijaju znakove i simptome do odrasle dobi. Te osobe obično imaju neurološke probleme, kao što su napadi, gubitak pamćenja, pad sposobnosti razmišljanja ili psihijatrijske bolesti.^[5]

Reference

^ ^a ^b ^c GRCh38: Ensembl release 89: ENSG00000176715 - Ensembl, maj 2017
^ ^a ^b ^c GRCm38: Ensembl release 89: ENSMUSG00000015016 - 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.
^ ^a ^b ^c ^d "Entrez Gene: Acyl-CoA synthetase family member 3". Pristupljeno 30. 12. 2011.
^ "UniProt, Q4G176". Pristupljeno 30. 6. 2021.
^ ]Zong NC, Li H, Li H, Lam MP, Jimenez RC, Kim CS, Deng N, Kim AK, Choi JH, Zelaya I, Liem D, Meyer D, Odeberg J, Fang C, Lu HJ, Xu T, Weiss J, Duan H, Uhlen M, Yates JR, Apweiler R, Ge J, Hermjakob H, Ping P (Oct 2013). "Integration of cardiac proteome biology and medicine by a specialized knowledgebase". Circulation Research. 113 (9): 1043–53. doi:10.1161/CIRCRESAHA.113.301151. PMC 4076475. PMID 23965338.
^ "Acyl-CoA synthetase family member 3, mitochondrial". Cardiac Organellar Protein Atlas Knowledgebase (COPaKB).^{[trajno mrtav link]}
^ Alfares A, Nunez LD, Al-Thihli K, Mitchell J, Melançon S, Anastasio N, Ha KC, Majewski J, Rosenblatt DS, Braverman N (septembar 2011). "Combined malonic and methylmalonic aciduria: exome sequencing reveals mutations in the ACSF3 gene in patients with a non-classic phenotype". J. Med. Genet. 48 (9): 602–5. doi:10.1136/jmedgenet-2011-100230. PMID 21785126.

Vanjski linkovi

Lokacija ljudskog genoma ACSF3 i stranica sa detaljima o genu ACSF3 u UCSC Genome Browseru.

Dopunska literatura

Watkins, P. A.; Maiguel, D.; Jia, Z.; Pevsner, J. (2007). "Evidence for 26 distinct acyl-coenzyme a synthetase genes in the human genome". The Journal of Lipid Research. 48 (12): 2736–2750. doi:10.1194/jlr.M700378-JLR200. PMID 17762044.

[refGRCh38Ensembl-1] GRCh38: Ensembl release 89: ENSG00000176715 - Ensembl, maj 2017

[refGRCm38Ensembl-2] GRCm38: Ensembl release 89: ENSMUSG00000015016 - 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: Acyl-CoA synthetase family member 3". Pristupljeno 30. 12. 2011.

[UniProt-6] "UniProt, Q4G176". Pristupljeno 30. 6. 2021.

[COPaKB-7] ]Zong NC, Li H, Li H, Lam MP, Jimenez RC, Kim CS, Deng N, Kim AK, Choi JH, Zelaya I, Liem D, Meyer D, Odeberg J, Fang C, Lu HJ, Xu T, Weiss J, Duan H, Uhlen M, Yates JR, Apweiler R, Ge J, Hermjakob H, Ping P (Oct 2013). "Integration of cardiac proteome biology and medicine by a specialized knowledgebase". Circulation Research. 113 (9): 1043–53. doi:10.1161/CIRCRESAHA.113.301151. PMC 4076475. PMID 23965338.

[url_COPaKB-8] "Acyl-CoA synthetase family member 3, mitochondrial". Cardiac Organellar Protein Atlas Knowledgebase (COPaKB).^{[trajno mrtav link]}

[pmid21785126-9] Alfares A, Nunez LD, Al-Thihli K, Mitchell J, Melançon S, Anastasio N, Ha KC, Majewski J, Rosenblatt DS, Braverman N (septembar 2011). "Combined malonic and methylmalonic aciduria: exome sequencing reveals mutations in the ACSF3 gene in patients with a non-classic phenotype". J. Med. Genet. 48 (9): 602–5. doi:10.1136/jmedgenet-2011-100230. PMID 21785126.

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