HACE1

HACE1
Identifiers
Aliases	HACE1 , SPPRS, HECT domain and ankyrin repeat containing E3 ubiquitin protein ligase 1
External IDs	OMIM: 610876 MGI: 2446110 HomoloGene: 10807 GeneCards: HACE1
Gene location (Mouse)
Chr.	Chromosome 10 (mouse)
End	45,588,441 bp
Gene ontology
Molecular function	protein binding ; ubiquitin-protein transferase activity ; transferase activity ; ubiquitin protein ligase activity ;
Cellular component	cytoplasm ; Golgi cisterna membrane ; Golgi membrane ; Golgi apparatus ; membrane ; endoplasmic reticulum ; nucleus ; nuclear body ;
Biological process	protein K48-linked ubiquitination ; cell cycle ; Rac protein signal transduction ; regulation of cell migration ; regulation of transcription, DNA-templated ; membrane fusion ; Golgi organization ; protein ubiquitination ; transcription, DNA-templated ; ubiquitin-dependent protein catabolic process ; protein polyubiquitination ;
	Sources:Amigo / QuickGO
Orthologs
	57531
	209462
	ENSG00000085382
	ENSMUSG00000038822
	Q8IYU2
	Q3U0D9
	NM_020771 ; NM_001321080 ; NM_001321083 ; NM_001321084
	NM_172473
NP_001308009 ; NP_001308012 ; NP_001308013 ; NP_065822 ; NP_001337483 ;
	NP_001337484 ; NP_001337485 ; NP_001337486 ; NP_001337487 ; NP_001337488 ; NP_001337489 Contents Function ; References ; Further reading ;
	NP_766061
	Wikidata
View/Edit Human	View/Edit Mouse

Last updated August 03, 2023

HECT domain and ankyrin repeat containing E3 ubiquitin protein ligase 1 is a protein that in humans is encoded by the HACE1 gene. ^[4]

Function

This gene encodes a HECT domain and ankyrin repeat-containing ubiquitin ligase. The encoded protein is involved in specific tagging of target proteins, leading to their subcellular localization or proteasomal degradation. The protein is a potential tumor suppressor and is involved in the pathophysiology of several tumors, including Wilm's tumor. [provided by RefSeq, Mar 2016].

Related Research Articles

Ubiquitin-protein ligase E3A (UBE3A) also known as E6AP ubiquitin-protein ligase (E6AP) is an enzyme that in humans is encoded by the UBE3A gene. This enzyme is involved in targeting proteins for degradation within cells.

E3 ubiquitin-protein ligase NEDD4, also known as neural precursor cell expressed developmentally down-regulated protein 4 is an enzyme that is, in humans, encoded by the NEDD4 gene.

Elongin C is a protein that in humans is encoded by the ELOC gene.

Elongin B is a protein that in humans is encoded by the ELOB gene.

Cullin-2 is a protein that in humans is encoded by the CUL2 gene.

E3 ubiquitin-protein ligase SMURF1 is an enzyme that in humans is encoded by the SMURF1 gene. The SMURF1 Gene encodes a protein with a size of 757 amino acids and the molecular mass of this protein is 86114 Da.

Ubiquitin-conjugating enzyme E2 D1 is a protein that in humans is encoded by the UBE2D1 gene.

Ubiquitin-conjugating enzyme E2 D2 is a protein that in humans is encoded by the UBE2D2 gene.

E3 ubiquitin-protein ligase HUWE1 is an enzyme that in humans is encoded by the HUWE1 gene.

Ubiquitin-conjugating enzyme E2 D3 is a protein that in humans is encoded by the UBE2D3 gene.

E3 ubiquitin-protein ligase UBR5 is an enzyme that in humans is encoded by the UBR5 gene.

Ubiquitin/ISG15-conjugating enzyme E2 L6 is a protein that in humans is encoded by the UBE2L6 gene.

E3 ubiquitin-protein ligase FANCL is an enzyme that in humans is encoded by the FANCL gene.

Ankyrin repeat and SOCS box protein 2 (ASBS) is a protein that is encoded by the ASB2 gene in humans.

Probable E3 ubiquitin-protein ligase HERC5 is an enzyme that in humans is encoded by the HERC5 gene.

HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1 is a protein that in humans is encoded by the HECW1 gene. In human it has 1606 amino acids and isoelectric point of 5.18.

HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2 is a protein that in humans is encoded by the HECW2 gene.

HECT domain E3 ubiquitin protein ligase 4 is a protein that in humans is encoded by the HECTD4 gene.

Probable E3 ubiquitin-protein ligase HERC3 is an enzyme that in humans is encoded by the HERC3 gene. The gene is a member of the HERC family of ubiquitin ligases and encodes a protein with a HECT domain and an RCC1-like domain (RLD). It binds ubiquitin and hPLIC-1/2 via its HECT domain. Alternatively spiced transcript variants encoding multiple isoforms have been observed, and mutations in this gene have been linked to colorectal and gastric carcinomas. The protein is localized in the cytosol and vesicular-like structures containing β-COP, ARF, and Rab5. Since HERC3 can itself be ubiquitinated and degraded by the proteasome, it likely has roles in both vesicular traffic and ubiquitin-dependent processes.

RNF144A is an E3 ubiquitin ligase belonging to the RING-between RING (RBR) family of ubiquitin ligases, whose specific members have been shown to function as RING-HECT hybrid E3 ligases. RNF144A is most closely related to RNF144B at the protein level, and the two proteins together comprise a subdomain within the RBR family of proteins. The ubiquitin ligase activity of RNF144A catalyzes ubiquitin linkages at the K6-, K11- and K48- positions of ubiquitin in vitro, and is regulated by self-association through its transmembrane domain.

References

1 2 3 GRCm38: Ensembl release 89: ENSMUSG00000038822 - Ensembl, May 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.
↑ "Entrez Gene: HECT domain and ankyrin repeat containing E3 ubiquitin protein ligase 1" . Retrieved 2018-07-11.

Anglesio MS, Evdokimova V, Melnyk N, Zhang L, Fernandez CV, Grundy PE, Leach S, Marra MA, Brooks-Wilson AR, Penninger J, Sorensen PH (September 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 (September 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 (June 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 (February 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 (June 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 (June 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 (November 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 (March 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.

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[refGRCm38Ensembl-1] 1 2 3 GRCm38: Ensembl release 89: ENSMUSG00000038822 - Ensembl, May 2017

[2] "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[3] "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[entrez-4] "Entrez Gene: HECT domain and ankyrin repeat containing E3 ubiquitin protein ligase 1" . Retrieved 2018-07-11.

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HACE1

Contents

Function

Related Research Articles

References

Further reading