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]
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.
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:
Cytoplasm. Endoplasmic reticulum. A significant portion localizes to the endoplasmic reticulum.
Tissue Specificity:
Expressed in multiple tissues including heart, brain and kidney.
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.
Contains 1 HECT (E6AP-type E3 ubiquitin-protein ligase) domain.
SWISS:
Q8IYU2
Gene ID:
57531
Database links:
Entrez Gene: 527565 Cow
Entrez Gene: 100733867 Guinea pig
Entrez Gene: 100071887 Horse
Entrez Gene: 57531 Human
Entrez Gene: 209462 Mouse
Entrez Gene: 100156102 Pig
Entrez Gene: 361866 Rat
Omim: 610876 Human
SwissProt: F1N6G5 Cow
SwissProt: Q8IYU2 Human
SwissProt: Q3U0D9 Mouse
SwissProt: D3ZBM7 Rat
Unigene: 434340 Human
Unigene: 458633 Mouse
Unigene: 28116 Rat
| Picture |
Blank control:Mouse spleen.
Primary Antibody (green line): Rabbit Anti-HACE1 antibody (SL6011R)
Dilution: 2μg /10^6 cells;
Isotype Control Antibody (orange line): Rabbit IgG .
Secondary Antibody : Goat anti-rabbit IgG-AF488
Dilution: 1μg /test.
Protocol
The cells were fixed with 70% ethanol (10min at room temperature) and then were incubated in 5%BSA to block non-specific protein-protein interactions for 30 min at room temperature .Cells stained with Primary Antibody for 30 min at room temperature. The secondary antibody used for 40 min at room temperature. Acquisition of 20,000 events was performed.
Blank control:Mouse spleen.
Primary Antibody (green line): Rabbit Anti-NHLRC2 antibody (SL9332R)
Dilution: 2μg /10^6 cells;
Isotype Control Antibody (orange line): Rabbit IgG .
Secondary Antibody : Goat anti-rabbit IgG-AF488
Dilution: 1μg /test.
Protocol
The cells were fixed with 70% ethanol (10min at room temperature) and then were incubated in 5%BSA to block non-specific protein-protein interactions for 30 min at room temperature .Cells stained with Primary Antibody for 30 min at room temperature. The secondary antibody used for 40 min at room temperature. Acquisition of 20,000 events was performed.
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