Free for academic non-profit institutions. Other users need a Commercial license
This gene encodes a member the HERC ubiquitin ligase family. The encoded protein is located in the cytosol and binds ubiquitin via a HECT domain. Mutations in this gene have been associated with colorectal and gastric carcinomas. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Oct 2012]
HERC3 (HECT And RLD Domain Containing E3 Ubiquitin Protein Ligase 3) is a Protein Coding gene. Diseases associated with HERC3 include Epidural Abscess. Among its related pathways are Ubiquitin mediated proteolysis and Innate Immune System. Gene Ontology (GO) annotations related to this gene include ligase activity and ubiquitin-protein transferase activity. An important paralog of this gene is HERC4.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0004842 | ubiquitin-protein transferase activity | IEA | -- |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005829 | cytosol | IDA | -- |
GO:0031410 | cytoplasmic vesicle | IEA | -- |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Class I MHC mediated antigen processing and presentation | ||
2 | Ubiquitin mediated proteolysis | ||
3 | Innate Immune System |
.61
|
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0016567 | protein ubiquitination | IEA | -- |
This gene was present in the common ancestor of animals.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | HERC3 30 |
|
||
Dog (Canis familiaris) |
Mammalia | HERC3 30 |
|
||
Cow (Bos Taurus) |
Mammalia | HERC3 30 |
|
||
Mouse (Mus musculus) |
Mammalia | Herc3 30 17 |
|
||
Rat (Rattus norvegicus) |
Mammalia | Herc3 30 |
|
||
Chicken (Gallus gallus) |
Aves | HERC3 30 |
|
||
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | herc3 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | herc3 30 |
|
||
Dr.16537 30 |
|
||||
Rainbow Trout (Oncorhynchus mykiss) |
Actinopterygii | Omy.7420 30 |
|
||
Fruit Fly (Drosophila melanogaster) |
Insecta | CG9153 32 |
|
|
|
Worm (Caenorhabditis elegans) |
Secernentea | herc-1 30 |
|
||
Y48G8AL.1 32 |
|
|
SNP ID | Clinical significance and condition | Chr 04 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
rs187220478 | Likely Benign: not provided | 88,697,328(+) |
C/T NM_153757.4(NAP1L5):c.427G>A (p.Glu143Lys) |
MISSENSE_VARIANT,INTRON | |
rs1804080 | - |
p.Glu946Gln |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
dgv2850n106 | CNV | deletion | 24896259 |
esv1953449 | CNV | deletion | 18987734 |
esv2278581 | CNV | deletion | 18987734 |
esv2640318 | CNV | deletion | 19546169 |
esv2657218 | CNV | deletion | 23128226 |
esv2727952 | CNV | deletion | 23290073 |
esv2727953 | CNV | deletion | 23290073 |
esv3564216 | CNV | deletion | 23714750 |
esv5387 | CNV | loss | 18987735 |
nsv1073354 | CNV | deletion | 25765185 |
nsv291508 | CNV | deletion | 16902084 |
nsv461575 | CNV | gain | 19166990 |
nsv461576 | CNV | gain | 19166990 |
nsv594805 | CNV | gain | 21841781 |
nsv594806 | CNV | gain | 21841781 |
Disorder | Aliases | PubMed IDs |
---|---|---|
epidural abscess |
|
|