Description: Homo sapiens HECT domain and ankyrin repeat containing E3 ubiquitin protein ligase 1 (HACE1), mRNA. RefSeq Summary (NM_020771): 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]. Transcript (Including UTRs) Position: hg19 chr6:105,175,968-105,307,794 Size: 131,827 Total Exon Count: 24 Strand: - Coding Region Position: hg19 chr6:105,177,537-105,307,517 Size: 129,981 Coding Exon Count: 24
ID:HACE1_HUMAN DESCRIPTION: RecName: Full=E3 ubiquitin-protein ligase HACE1; EC=6.3.2.-; AltName: Full=HECT domain and ankyrin repeat-containing E3 ubiquitin-protein ligase 1; FUNCTION: E3 ubiquitin-protein ligase involved in Golgi membrane fusion and regulation of small GTPases. Acts as a regulator of Golgi membrane dynamics during the cell cycle: recruited to Golgi membrane by Rab proteins and regulates postmitotic Golgi membrane fusion. Acts by mediating ubiquitination during mitotic Golgi disassembly, ubiquitination serving as a signal for Golgi reassembly later, after cell division. Specifically interacts with GTP-bound RAC1, mediating ubiquitination and subsequent degradation of active RAC1, thereby playing a role in host defense against pathogens. May also act as a transcription regulator via its interaction with RARB. PATHWAY: Protein modification; protein ubiquitination. SUBUNIT: Interacts with RARB (By similarity). Interacts with RAB1 (RAB1A, RAB1B or RAB1C), RAB4 (RAB4A or RAB4B) and RAB11 (RAB11A or RAB11B); in a GTP-dependent manner. Interacts with RAC1; in a GTP-dependent manner. Interacts with the 26S proteasomal complex through the 20S core proteasomal subunit. SUBCELLULAR LOCATION: Golgi apparatus, Golgi stack membrane. Cytoplasm. Endoplasmic reticulum. Note=A significant portion localizes to the endoplasmic reticulum. Targeted to Golgi membrane via its interaction with Rab proteins. TISSUE SPECIFICITY: Expressed in multiple tissues including heart, brain and kidney. DEVELOPMENTAL STAGE: Expressed in fetal and pediatric kidney cells. INDUCTION: Down-regulated in sporadic Wilms tumor. DISEASE: Note=Defects in HACE1 are a cause of Wilms tumor (WT). WT is a pediatric malignancy of kidney and one of the most common solid cancers in childhood. HACE1 is epigenetically down-regulated in sporadic Wilms tumor. Moreover, a t(5;6)(q21;q21) translocation that truncates HACE1 has been found in a child with bilateral, young-onset Wilms tumor. SIMILARITY: Contains 6 ANK repeats. SIMILARITY: Contains 1 HECT (E6AP-type E3 ubiquitin-protein ligase) domain. SEQUENCE CAUTION: Sequence=BAA92558.1; Type=Erroneous initiation; Note=Translation N-terminally shortened; Sequence=BAG57487.1; Type=Erroneous initiation; Note=Translation N-terminally extended; Sequence=BAG62066.1; Type=Erroneous initiation; Note=Translation N-terminally extended; Sequence=BAH14462.1; Type=Erroneous initiation; Note=Translation N-terminally extended; Sequence=CAH71890.1; Type=Erroneous gene model prediction; Sequence=CAH74024.1; Type=Erroneous gene model prediction; Sequence=CAI16815.1; Type=Erroneous gene model prediction;
height Gudbjartsson ,et al. 2008, Many sequence variants affecting diversity of adult human height, Nature genetics 2008 40- 5 : 609-15.
[PubMed 18391951]
Menarche John R B Perry et al. Nature genetics 2009, Meta-analysis of genome-wide association data identifies two loci influencing age at menarche., Nature genetics.
[PubMed 19448620]
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
ModBase Predicted Comparative 3D Structure on Q8IYU2
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Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
BC034982 - Homo sapiens HECT domain and ankyrin repeat containing, E3 ubiquitin protein ligase 1, mRNA (cDNA clone MGC:27112 IMAGE:4838835), complete cds. LF384632 - JP 2014500723-A/192135: Polycomb-Associated Non-Coding RNAs. BC038119 - Homo sapiens cDNA clone IMAGE:5265597, containing frame-shift errors. AK131207 - Homo sapiens cDNA FLJ16076 fis, clone MESAN2005303, highly similar to Homo sapiens HECT domain and ankyrin repeat containing, E3 ubiquitin protein ligase 1 (HACE1), mRNA. AK291760 - Homo sapiens cDNA FLJ76316 complete cds, highly similar to Homo sapiens HECT domain and ankyrin repeat containing, E3 ubiquitin protein ligase 1 (HACE1), mRNA. DQ891735 - Synthetic construct clone IMAGE:100004365; FLH179517.01X; RZPDo839H05130D HECT domain and ankyrin repeat containing, E3 ubiquitin protein ligase 1 (HACE1) gene, encodes complete protein. MA620209 - JP 2018138019-A/192135: Polycomb-Associated Non-Coding RNAs. AJ420474 - Homo sapiens mRNA full length insert cDNA clone EUROIMAGE 1537739. BC041919 - Homo sapiens cDNA clone IMAGE:5300087, containing frame-shift errors. AB037741 - Homo sapiens mRNA for KIAA1320 protein, partial cds. AL834202 - Homo sapiens mRNA; cDNA DKFZp434M0621 (from clone DKFZp434M0621). JD348961 - Sequence 329985 from Patent EP1572962. JD315445 - Sequence 296469 from Patent EP1572962. JD290476 - Sequence 271500 from Patent EP1572962. JD052667 - Sequence 33691 from Patent EP1572962. JD317847 - Sequence 298871 from Patent EP1572962. JD089991 - Sequence 71015 from Patent EP1572962. AK124268 - Homo sapiens cDNA FLJ42274 fis, clone TLIVE2000762. AK300314 - Homo sapiens cDNA FLJ50673 complete cds, highly similar to Homo sapiens HECT domain and ankyrin repeat containing, E3 ubiquitin protein ligase 1 (HACE1), mRNA. AK292683 - Homo sapiens cDNA FLJ75019 complete cds. JD522031 - Sequence 503055 from Patent EP1572962. AK316091 - Homo sapiens cDNA, FLJ78990 complete cds, highly similar to Homo sapiens HECT domain and ankyrin repeat containing, E3 ubiquitin protein ligase 1 (HACE1), mRNA. AK294164 - Homo sapiens cDNA FLJ50472 complete cds, highly similar to Homo sapiens HECT domain and ankyrin repeat containing, E3 ubiquitin protein ligase 1 (HACE1), mRNA. AK311633 - Homo sapiens cDNA, FLJ18675. LF322397 - JP 2014500723-A/129900: Polycomb-Associated Non-Coding RNAs. MA557974 - JP 2018138019-A/129900: Polycomb-Associated Non-Coding RNAs. JD404695 - Sequence 385719 from Patent EP1572962. JD167839 - Sequence 148863 from Patent EP1572962.
Biochemical and Signaling Pathways
Reactome (by CSHL, EBI, and GO)
Protein Q8IYU2 (Reactome details) participates in the following event(s):
R-HSA-983157 Interaction of E3 with substrate and E2-Ub complex R-HSA-983147 Release of E3 from polyubiquitinated substrate R-HSA-983140 Transfer of Ub from E2 to substrate and release of E2 R-HSA-983168 Antigen processing: Ubiquitination & Proteasome degradation R-HSA-983169 Class I MHC mediated antigen processing & presentation R-HSA-1280218 Adaptive Immune System R-HSA-168256 Immune System
US Server
