Free for academic non-profit institutions. Other users need a Commercial license
HERC6 belongs to the HERC family of ubiquitin ligases, all of which contain a HECT domain and at least 1 RCC1 (MIM 179710)-like domain (RLD). The 350-amino acid HECT domain is predicted to catalyze the formation of a thioester with ubiquitin before transferring it to a substrate, and the RLD is predicted to act as a guanine nucleotide exchange factor for small G proteins (Hochrainer et al., 2005 [PubMed 15676274]).[supplied by OMIM, Mar 2008]
HERC6 (HECT And RLD Domain Containing E3 Ubiquitin Protein Ligase Family Member 6) is a Protein Coding gene. Diseases associated with HERC6 include Marburg Hemorrhagic Fever. Among its related pathways are Innate Immune System and Class I MHC mediated antigen processing and presentation. Gene Ontology (GO) annotations related to this gene include ligase activity and ubiquitin-protein transferase activity. An important paralog of this gene is HERC5.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0004842 | ubiquitin-protein transferase activity | IEA | -- |
GO:0016740 | transferase activity | IEA | -- |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005654 | nucleoplasm | IDA | -- |
GO:0005737 | cytoplasm | IEA | -- |
GO:0005829 | cytosol | TAS | -- |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Class I MHC mediated antigen processing and presentation | ||
2 | Innate Immune System |
.61
|
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000209 | protein polyubiquitination | TAS | -- |
GO:0002244 | hematopoietic progenitor cell differentiation | IEA | -- |
GO:0009617 | response to bacterium | IEA | -- |
GO:0016567 | protein ubiquitination | IEA | -- |
ExUns: | 1a | · | 1b | · | 1c | · | 1d | ^ | 2a | · | 2b | · | 2c | ^ | 3 | ^ | 4a | · | 4b | ^ | 5 | ^ | 6 | ^ | 7 | ^ | 8a | · | 8b | ^ | 9 | ^ | 10 | ^ | 11 | ^ | 12 | ^ | 13 | ^ | 14 | ^ | 15 | ^ | 16 | ^ | 17 | ^ | 18 | ^ | 19 | ^ |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||||||||||
SP2: | - | - | - | - | - | |||||||||||||||||||||||||||||||||||||||||||||||
SP3: | - | - | - | - | - | |||||||||||||||||||||||||||||||||||||||||||||||
SP4: | - | - | - | - | - | - | - | |||||||||||||||||||||||||||||||||||||||||||||
SP5: | - | - | ||||||||||||||||||||||||||||||||||||||||||||||||||
SP6: | - | - | ||||||||||||||||||||||||||||||||||||||||||||||||||
SP7: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
SP8: |
ExUns: | 20 | ^ | 21 | ^ | 22 | ^ | 23a | · | 23b | ^ | 24a | · | 24b | ^ | 25 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | - | - | |||||||||||||
SP2: | - | - | |||||||||||||
SP3: | - | - | |||||||||||||
SP4: | - | - | |||||||||||||
SP5: | |||||||||||||||
SP6: | |||||||||||||||
SP7: | |||||||||||||||
SP8: |
This gene was present in the common ancestor of animals.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | HERC6 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | HERC6 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | HERC6 30 31 |
|
OneToOne | |
Mouse (Mus musculus) |
Mammalia | Herc6 30 17 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Herc6 30 |
|
||
Oppossum (Monodelphis domestica) |
Mammalia | HERC6 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | HERC6 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | herc6 30 |
|
||
Fruit Fly (Drosophila melanogaster) |
Insecta | CG6678 31 |
|
OneToMany | |
Worm (Caenorhabditis elegans) |
Secernentea | K11D2.1 31 |
|
OneToMany | |
Sea Squirt (Ciona savignyi) |
Ascidiacea | -- 31 |
|
OneToMany |
SNP ID | Clinical significance and condition | Chr 04 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
709772 | Benign: not provided | 88,423,879(+) | G/A | MISSENSE_VARIANT | |
782443 | Benign: not provided | 88,424,608(+) | C/T | MISSENSE_VARIANT,INTRON_VARIANT | |
785099 | Benign: not provided | 88,436,931(+) | C/A | MISSENSE_VARIANT | |
785100 | Benign: not provided | 88,442,262(+) | T/C | SYNONYMOUS_VARIANT | |
785101 | Benign: not provided | 88,442,360(+) | C/A | MISSENSE_VARIANT |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
esv3601302 | CNV | loss | 21293372 |
esv3601304 | CNV | loss | 21293372 |
nsv1073353 | CNV | deletion | 25765185 |
nsv1074734 | CNV | deletion | 25765185 |
nsv1136886 | CNV | deletion | 24896259 |
nsv1142613 | CNV | deletion | 24896259 |
Disorder | Aliases | PubMed IDs |
---|---|---|
marburg hemorrhagic fever |
|
|