ACAD10

ACAD10
Identifikatori
Aliasi	ACAD10
Vanjski ID-jevi	OMIM: 611181 MGI: 1919235 HomoloGene: 49825 GeneCards: ACAD10
Lokacija gena (čovjek)
Hrom.	Hromosom 12 (čovjek)
Kraj	111,757,107 bp
Lokacija gena (miš)
Hrom.	Hromosom 5 (miš)
Kraj	121,798,577 bp
Ontologija gena
Molekularna funkcija	• oxidoreductase activity, acting on the CH-CH group of donors; • oxidoreductase activity; • hydrolase activity; • acyl-CoA dehydrogenase activity; • flavin adenine dinucleotide binding;
Ćelijska komponenta	• mitochondrial matrix; • mitohondrija;
Biološki proces	• fatty acid beta-oxidation; • metabolizam; • fatty acid beta-oxidation using acyl-CoA dehydrogenase;
	Izvori:Amigo / QuickGO
Ortolozi
	80724
	71985
	ENSG00000111271
	ENSMUSG00000029456
	Q6JQN1
	Q8K370
	NM_025247; NM_001136538; NM_001136542
	NM_028037
	NP_001130010; NP_079523
	NP_082313
	Wikipodaci
Pogledaj/uredi – čovjek	Pogledaj/uredi – miš

Član 10 porodice acil-CoA dehidrogenaza je protein koji je kod ljudi kodiran genom ACAD10.^[5]

Aminokiselinska sekvenca uredi

Dužina polipeptidnog lanca je 1.059 aminokiselina, a molekulska težina 118.834 Da.^[6]

10	20	30	40	50
MCVRSCFQSP	RLQWVWRTAF	LKHTQRRHQG	SHRWTHLGGS	TYRAVIFDMG
GVLIPSPGRV	AAEWEVQNRI	PSGTILKALM	EGGENGPWMR	FMRAEITAEG
FLREFGRLCS	EMLKTSVPVD	SFFSLLTSER	VAKQFPVMTE	AITQIRAKGL
QTAVLSNNFY	LPNQKSFLPL	DRKQFDVIVE	SCMEGICKPD	PRIYKLCLEQ
LGLQPSESIF	LDDLGTNLKE	AARLGIHTIK	VNDPETAVKE	LEALLGFTLR
VGVPNTRPVK	KTMEIPKDSL	QKYLKDLLGI	QTTGPLELLQ	FDHGQSNPTY
YIRLANRDLV	LRKKPPGTLL	PSAHAIEREF	RIMKALANAG	VPVPNVLDLC
EDSSVIGTPF	YVMEYCPGLI	YKDPSLPGLE	PSHRRAIYTA	MNTVLCKIHS
VDLQAVGLED	YGKQGDYIPR	QVRTWVKQYR	ASETSTIPAM	ERLIEWLPLH
LPRQQRTTVV	HGDFRLDNLV	FHPEEPEVLA	VLDWELSTLG	DPLADVAYSC
LAHYLPSSFP	VLRGINDCDL	TQLGIPAAEE	YFRMYCLQMG	LPPTENWNFY
MAFSFFRVAA	ILQGVYKRSL	TGQASSTYAE	QTGKLTEFVS	NLAWDFAVKE
GFRVFKEMPF	TNPLTRSYHT	WARPQSQWCP	TGSRSYSSVP	EASPAHTSRG
GLVISPESLS	PPVRELYHRL	KHFMEQRVYP	AEPELQSHQA	SAARWSPSPL
IEDLKEKAKA	EGLWNLFLPL	EADPEKKYGA	GLTNVEYAHL	CELMGTSLYA
PEVCNCSAPD	TGNMELLVRY	GTEAQKARWL	IPLLEGKARS	CFAMTEPQVA
SSDATNIEAS	IREEDSFYVI	NGHKWWITGI	LDPRCQLCVF	MGKTDPHAPR
HRQQSVLLVP	MDTPGIKIIR	PLTVYGLEDA	PGGHGEVRFE	HVRVPKENMV
LGPGRGFEIA	QGRLGPGRIH	HCMRLIGFSE	RALALMKARV	KSRLAFGKPL
VEQGTVLADI	AQSRVEIEQA	RLLVLRAAHL	MDLAGNKAAA	LDIAMIKMVA
PSMASRVIDR	AIQAFGAAGL	SSDYPLAQFF	TWARALRFAD	GPDEVHRATV
AKLELKHRI

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

Struktura uredi

Ovaj gen kodira člana porodice enzima acyl-CoA dehidrogenaze (ACAD), koji učestvuju u beta-oksidaciji masnih kiselina u mitohondrijama. Kodirani enzim sadrži domen hidrolaze na N-terminalnom dijelu, katalitski domen serin/treonin protein-kinaze u centralnoj regiji i konzervirani ACAD domen na C-kraju. Opisano je nekoliko alternativno prerađenih varijanti transkripta ovog gena, ali priroda nekih od ovih varijanti nije utvrđena cijelom dužinom.^[5]

Klinički značaj uredi

U narodu Pima, ACAD10 je identifikovan kao gen povezan sa dijabetesom tipa 2, insulinskom rezistencijom i poremećenim metabolizmom lipida. Konkretno, dva jednonukleotidna polimorfizma, rs601663 i rs659964, značajno su povezana s ovim simptomima u velikoj populaciji ljudi Pima i ostalim autohtonim narodima Amerike.^[7]

Interakcije uredi

Korištenjem masene spektrometrije za procjenu afiniteta, zaključuje se interakcija kada je proteinska sond afinitetodređuje iz ekstrakata ćelija poliklonskim antitijelima ili epitopskom oznakom, a pridruženi partner za interakciju je identificiran metodama masene spektrometrije. Pomoću ovog metoda pokazalo se da ACAD10 stupa u interakciju s P2RY8, NDUFA10, NTRK3, SLC2A12, LPAR4, PTH1R, COLEC10 , APP, MAS1, CD79A, BSG i Ubikvitin C.^[8]

Reference uredi

^ ^a ^b ^c GRCh38: Ensembl release 89: ENSG00000111271 - Ensembl, maj 2017
^ ^a ^b ^c GRCm38: Ensembl release 89: ENSMUSG00000029456 - 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 "Entrez Gene: Acyl-CoA dehydrogenase family, member 10".
^ "UniProt, Q6JQN1". Pristupljeno 6. 8. 2021.
^ Bian L, Hanson RL, Muller YL, Ma L, Kobes S, Knowler WC, Bogardus C, Baier LJ (Jul 2010). "Variants in ACAD10 are associated with type 2 diabetes, insulin resistance and lipid oxidation in Pima Indians". Diabetologia. 53 (7): 1349–53. doi:10.1007/s00125-010-1695-y. PMC 2947857. PMID 20390405.
^ "ACAD10 Results Summary". BioGrid. TheTyerslab.com. Pristupljeno 18. 5. 2015.

Dopunska literatura uredi

Ye X, Ji C, Zhou C, Zeng L, Gu S, Ying K, Xie Y, Mao Y (Sep 2004). "Cloning and characterization of a human cDNA ACAD10 mapped to chromosome 12q24.1". Molecular Biology Reports. 31 (3): 191–5. doi:10.1023/b:mole.0000043622.57408.6b. PMID 15560374. S2CID 6678439.
Vega A, Salas A, Milne RL, Carracedo B, Ribas G, Ruibal A, de León AC, González-Hernández A, Benítez J, Carracedo A (Jan 2009). "Evaluating new candidate SNPs as low penetrance risk factors in sporadic breast cancer: a two-stage Spanish case-control study". Gynecologic Oncology. 112 (1): 210–4. doi:10.1016/j.ygyno.2008.09.012. PMID 18950845.
He M, Pei Z, Mohsen AW, Watkins P, Murdoch G, Van Veldhoven PP, Ensenauer R, Vockley J (Apr 2011). "Identification and characterization of new long chain acyl-CoA dehydrogenases". Molecular Genetics and Metabolism. 102 (4): 418–29. doi:10.1016/j.ymgme.2010.12.005. PMC 3073726. PMID 21237683.
Qayyum R, Snively BM, Ziv E, Nalls MA, Liu Y, Tang W, Yanek LR, Lange L, Evans MK, Ganesh S, Austin MA, Lettre G, Becker DM, Zonderman AB, Singleton AB, Harris TB, Mohler ER, Logsdon BA, Kooperberg C, Folsom AR, Wilson JG, Becker LC, Reiner AP (2012). "A meta-analysis and genome-wide association study of platelet count and mean platelet volume in African Americans". PLOS Genetics. 8 (3): e1002491. doi:10.1371/journal.pgen.1002491. PMC 3299192. PMID 22423221.
Lee JY, Lee BS, Shin DJ, Woo Park K, Shin YA, Joong Kim K, Heo L, Young Lee J, Kyoung Kim Y, Jin Kim Y, Bum Hong C, Lee SH, Yoon D, Jung Ku H, Oh IY, Kim BJ, Lee J, Park SJ, Kim J, Kawk HK, Lee JE, Park HK, Lee JE, Nam HY, Park HY, Shin C, Yokota M, Asano H, Nakatochi M, Matsubara T, Kitajima H, Yamamoto K, Kim HL, Han BG, Cho MC, Jang Y, Kim HS, Euy Park J, Lee JY (Mar 2013). "A genome-wide association study of a coronary artery disease risk variant". Journal of Human Genetics. 58 (3): 120–6. doi:10.1038/jhg.2012.124. PMID 23364394.
Bian L, Hanson RL, Muller YL, Ma L, Kobes S, Knowler WC, Bogardus C, Baier LJ (Jul 2010). "Variants in ACAD10 are associated with type 2 diabetes, insulin resistance and lipid oxidation in Pima Indians". Diabetologia. 53 (7): 1349–53. doi:10.1007/s00125-010-1695-y. PMC 2947857. PMID 20390405.
Wu C, Hu Z, He Z, Jia W, Wang F, Zhou Y, Liu Z, Zhan Q, Liu Y, Yu D, Zhai K, Chang J, Qiao Y, Jin G, Liu Z, Shen Y, Guo C, Fu J, Miao X, Tan W, Shen H, Ke Y, Zeng Y, Wu T, Lin D (Jul 2011). "Genome-wide association study identifies three new susceptibility loci for esophageal squamous-cell carcinoma in Chinese populations". Nature Genetics. 43 (7): 679–84. doi:10.1038/ng.849. PMID 21642993. S2CID 205357759.

Vanjski linkovi uredi

Lokacija ljudskog genoma ACAD10 i stranica sa detaljima o genu ACAD10 u UCSC Genome Browseru.

[refGRCh38Ensembl-1] GRCh38: Ensembl release 89: ENSG00000111271 - Ensembl, maj 2017

[refGRCm38Ensembl-2] GRCm38: Ensembl release 89: ENSMUSG00000029456 - 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 dehydrogenase family, member 10".

[UniProt-6] "UniProt, Q6JQN1". Pristupljeno 6. 8. 2021.

[7] Bian L, Hanson RL, Muller YL, Ma L, Kobes S, Knowler WC, Bogardus C, Baier LJ (Jul 2010). "Variants in ACAD10 are associated with type 2 diabetes, insulin resistance and lipid oxidation in Pima Indians". Diabetologia. 53 (7): 1349–53. doi:10.1007/s00125-010-1695-y. PMC 2947857. PMID 20390405.

[Biogrid-8] "ACAD10 Results Summary". BioGrid. TheTyerslab.com. Pristupljeno 18. 5. 2015.

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