HACE1

E3 ubikvitinska protein-ligaza 1 sa HECT domenom i ankirinskim ponavljanjem jest protein koji je kod ljudi kodiran genom HACE1.

HACE1
Identifikatori
Aliasi	HACE1
Vanjski ID-jevi	OMIM: 610876 MGI: 2446110 HomoloGene: 10807 GeneCards: HACE1
Lokacija gena (miš) Hrom. Hromosom 10 (miš) Bend 10|10 B2 Početak 45,453,925 bp Kraj 45,588,441 bp
Ontologija gena Molekularna funkcija • GO:0001948, GO:0016582 vezivanje za proteine • GO:0050372 aktivnost sa transferazom ubikvitina • aktivnost sa transferazom • GO:1904264, GO:1904822, GO:0090622, GO:0090302 ubiquitin protein ligase activity Ćelijska komponenta • citoplazma • Golgi cisterna membrane • Golđijeva membrana • Golđijev aparat • membrana • Endoplazmatski retikulum • jedro • nuclear body Biološki proces • protein K48-linked ubiquitination • ćelijski ciklus • Rac protein signal transduction • regulation of cell migration • GO:0009373 regulation of transcription, DNA-templated • membrane fusion • Golgi organization • protein ubiquitination • transcription, DNA-templated • ubiquitin-dependent protein catabolic process • protein polyubiquitination Izvori:Amigo / QuickGO
Ortolozi
Vrste	Čovjek	Miš
Entrez	57531	209462
Ensembl	ENSG00000085382	ENSMUSG00000038822
UniProt	Q8IYU2	Q3U0D9
RefSeq (mRNK)	NM_020771 NM_001321080 NM_001321083 NM_001321084	NM_172473
RefSeq (bjelančevina)	NP_001308009 NP_001308012 NP_001308013 NP_065822 NP_001337483 NP_001337484 NP_001337485 NP_001337486 NP_001337487 NP_001337488 NP_001337489	NP_766061
Lokacija (UCSC)	n/a	Chr 10: 45.45 – 45.59 Mb
PubMed pretraga
Wikipodaci
Pogledaj/uredi – čovjek Pogledaj/uredi – miš

Funkcija

Ovaj gen kodira HECT domen i ankirinsku ubikvitin-ligazu koja sadrži ponavljanje. Kodirani protein uključen je u specifično označavanje ciljnih proteina, što dovodi do njihove potćelijske lokalizacije ili proteasomske degradacije. Ovaj protein je potencijalni supresor tumora i uključen je u patofiziološke promjene nekoliko tumora, uključujući Wilmov tumor (prema RefSeq, Mar 2016).

Dopunska literatura

• Anglesio MS, Evdokimova V, Melnyk N, Zhang L, Fernandez CV, Grundy PE, Leach S, Marra MA, Brooks-Wilson AR, Penninger J, Sorensen PH (septembar 2004). "Differential expression of a novel ankyrin containing E3 ubiquitin-protein ligase, Hace1, in sporadic Wilms' tumor versus normal kidney". Hum. Mol. Genet. 13 (18): 2061–74. doi:10.1093/hmg/ddh215. PMID 15254018.
• Zhang L, Anglesio MS, O'Sullivan M, Zhang F, Yang G, Sarao R, Mai PN, Cronin S, Hara H, Melnyk N, Li L, Wada T, Liu PP, Farrar J, Arceci RJ, Sorensen PH, Penninger JM (septembar 2007). "The E3 ligase HACE1 is a critical chromosome 6q21 tumor suppressor involved in multiple cancers". Nat. Med. 13 (9): 1060–9. doi:10.1038/nm1621. PMID 17694067. S2CID 15289140.
• Hibi K, Sakata M, Sakuraba K, Shirahata A, Goto T, Mizukami H, Saito M, Ishibashi K, Kigawa G, Nemoto H, Sanada Y (2008). "Aberrant methylation of the HACE1 gene is frequently detected in advanced colorectal cancer". Anticancer Res. 28 (3A): 1581–4. PMID 18630515.
• Sakata M, Kitamura YH, Sakuraba K, Goto T, Mizukami H, Saito M, Ishibashi K, Kigawa G, Nemoto H, Sanada Y, Hibi K (juni 2009). "Methylation of HACE1 in gastric carcinoma". Anticancer Res. 29 (6): 2231–3. PMID 19528486.
• Huang Y, de Reyniès A, de Leval L, Ghazi B, Martin-Garcia N, Travert M, Bosq J, Brière J, Petit B, Thomas E, Coppo P, Marafioti T, Emile JF, Delfau-Larue MH, Schmitt C, Gaulard P (februar 2010). "Gene expression profiling identifies emerging oncogenic pathways operating in extranodal NK/T-cell lymphoma, nasal type". Blood. 115 (6): 1226–37. doi:10.1182/blood-2009-05-221275. PMC 2826234. PMID 19965620.
• Zhao J, Li M, Bradfield JP, Zhang H, Mentch FD, Wang K, Sleiman PM, Kim CE, Glessner JT, Hou C, Keating BJ, Thomas KA, Garris ML, Deliard S, Frackelton EC, Otieno FG, Chiavacci RM, Berkowitz RI, Hakonarson H, Grant SF (juni 2010). "The role of height-associated loci identified in genome wide association studies in the determination of pediatric stature". BMC Med. Genet. 11: 96. doi:10.1186/1471-2350-11-96. PMC 2894790. PMID 20546612.
• Einarsdottir E, Bevova MR, Zhernakova A, Monsuur A, Koskinen LL, van't Slot R, Mulder C, Mearin ML, Korponay-Szabo IR, Kaukinen K, Kurppa K, Kere J, Mäki M, Wijmenga C, Saavalainen P (juni 2011). "Multiple independent variants in 6q21-22 associated with susceptibility to celiac disease in the Dutch, Finnish and Hungarian populations". Eur. J. Hum. Genet. 19 (6): 682–6. doi:10.1038/ejhg.2011.2. PMC 3110053. PMID 21326284.
• Torrino S, Visvikis O, Doye A, Boyer L, Stefani C, Munro P, Bertoglio J, Gacon G, Mettouchi A, Lemichez E (novembar 2011). "The E3 ubiquitin-ligase HACE1 catalyzes the ubiquitylation of active Rac1". Dev. Cell. 21 (5): 959–65. doi:10.1016/j.devcel.2011.08.015. PMID 22036506.
• Castillo-Lluva S, Tan CT, Daugaard M, Sorensen PH, Malliri A (mart 2013). "The tumour suppressor HACE1 controls cell migration by regulating Rac1 degradation". Oncogene. 32 (13): 1735–42. doi:10.1038/onc.2012.189. PMID 22614015.