FAM60A
Član 10 poriodice acil-CoA dehidrogenaza je protein koji je kod ljudi kodiran genom ACAD10.[5]
| FAM60A | |||||||||||||||||||||||||
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| Identifikatori | |||||||||||||||||||||||||
| Aliasi | SINHCAF | ||||||||||||||||||||||||
| Vanjski ID-jevi | OMIM: 615027 MGI: 1929091 HomoloGene: 10494 GeneCards: SINHCAF | ||||||||||||||||||||||||
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| Ortolozi | |||||||||||||||||||||||||
| Vrste | Čovjek | Miš | |||||||||||||||||||||||
| Entrez | |||||||||||||||||||||||||
| Ensembl | |||||||||||||||||||||||||
| UniProt | |||||||||||||||||||||||||
| RefSeq (mRNK) | |||||||||||||||||||||||||
| RefSeq (bjelančevina) | |||||||||||||||||||||||||
| Lokacija (UCSC) | Chr 12: 31.28 – 31.33 Mb | Chr 6: 148.82 – 148.85 Mb | |||||||||||||||||||||||
| PubMed pretraga | [3] | [4] | |||||||||||||||||||||||
| Wikipodaci | |||||||||||||||||||||||||
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Aminokiselinska sekvenca uredi
Dužina polipeptidnog lanca je 1.059 aminokiselina, a molekulska težina 118.834 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 | ||||
|---|---|---|---|---|---|---|---|---|
| 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 |
Struktura uredi
Ovaj gen kodira člana porodice enzima acyl-CoA-dehidrogenaza (ACAD), koji učestvuju u beta-oksidaciji masnih kiselina u mitohondrijama. Kodirani enzim sadrži domen hidrolaza na N-terminalnom dijelu, katalitski domen serin/treoninske protein-kinaze u centralnoj regiji i konzerviran 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 identificiran je kao gen povezan s dijabetesom tipa 2, rezistencijom na insulin i poremećenim metabolizmom lipida. Konkretno, dva jednonukleotidna polimorfizma, rs601663 i rs659964, značajno su povezani s ovim simptomima u velikoj populaciji ljudi Pima i američkih starosjedilaca.[7]
Interakcije uredi
Korištenjem masene spektrometrije za procjenu afiniteta, zaključuje se interakcija kada je afinitet proteinske sonde dobuijen iz ekstrakata ćelija bilo poliklonskim antitijelom ili epitopskom oznakom, a pridruženi partner za interakciju je identificiran metodima masene spektrometrije. Koristeći ovaj metod, pokazalo se da ACAD10 komunicira sa P2RY8, NDUFA10, NTRK3, SLC2A12, LPAR4, PTH1R, COLEC10, APP, MAS1, CD79A, BSG, i ubikvitinom C.[8]
Reference uredi
- ^ a b c ENSG00000276371 GRCh38: Ensembl release 89: ENSG00000139146, ENSG00000276371 - Ensembl, maj 2017
- ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000039985 - 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 9. 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.