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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]
HACE1 (HECT Domain And Ankyrin Repeat Containing E3 Ubiquitin Protein Ligase 1) is a Protein Coding gene. Diseases associated with HACE1 include Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures and Visual Epilepsy. 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 Rab GTPase binding. An important paralog of this gene is UBE3C.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0004842 | ubiquitin-protein transferase activity | IEA,IDA | 21988917 |
GO:0005515 | protein binding | IEA,IPI | 25026213 |
GO:0016740 | transferase activity | IEA | -- |
GO:0017137 | Rab GTPase binding | IDA | 21988917 |
GO:0048365 | Rac GTPase binding | IPI | 22036506 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000139 | Golgi membrane | IBA,IDA | 21988917 |
GO:0005634 | nucleus | IBA | 21873635 |
GO:0005737 | cytoplasm | IBA | 21873635 |
GO:0005783 | endoplasmic reticulum | IDA | -- |
GO:0005794 | Golgi apparatus | IEA | -- |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Class I MHC mediated antigen processing and presentation | ||
2 | SMAD Signaling Network |
SMAD Signaling Network
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3 | Ubiquitin-Proteasome Dependent Proteolysis |
Ubiquitin-Proteasome Dependent Proteolysis
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4 | Innate Immune System |
.61
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GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000209 | protein polyubiquitination | IBA | 21873635 |
GO:0006511 | ubiquitin-dependent protein catabolic process | IBA,IDA | 22036506 |
GO:0007030 | Golgi organization | IDA | 21988917 |
GO:0007049 | cell cycle | IEA | -- |
GO:0016567 | protein ubiquitination | IEA,IDA | 21988917 |
ExUns: | 1a | · | 1b | ^ | 2 | ^ | 3 | ^ | 4 | ^ | 5 | ^ | 6 | ^ | 7 | ^ | 8 | ^ | 9 | ^ | 10 | ^ | 11 | ^ | 12a | · | 12b | ^ | 13 | ^ | 14 | ^ | 15 | ^ | 16 | ^ | 17 | ^ | 18 | ^ | 19 | ^ | 20 | ^ | 21 | ^ | 22 | ^ | 23a | · | 23b | ^ |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | - | - | ||||||||||||||||||||||||||||||||||||||||||||||||||
SP2: | - | - | - | - | - | - | - | |||||||||||||||||||||||||||||||||||||||||||||
SP3: | - | |||||||||||||||||||||||||||||||||||||||||||||||||||
SP4: |
ExUns: | 24a | · | 24b | · | 24c |
---|---|---|---|---|---|
SP1: | |||||
SP2: | |||||
SP3: | |||||
SP4: |
This gene was present in the common ancestor of animals and fungi.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | HACE1 30 31 |
|
OneToOne | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | -- 31 |
|
OneToMany | |
-- 31 |
|
OneToMany | |||
Dog (Canis familiaris) |
Mammalia | HACE1 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | HACE1 30 31 |
|
OneToOne | |
Oppossum (Monodelphis domestica) |
Mammalia | HACE1 31 |
|
OneToOne | |
Mouse (Mus musculus) |
Mammalia | Hace1 30 17 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Hace1 30 |
|
||
Chicken (Gallus gallus) |
Aves | HACE1 30 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | HACE1 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | hace1 30 |
|
||
Str.20391 30 |
|
||||
African clawed frog (Xenopus laevis) |
Amphibia | Xl.22891 30 |
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||
Zebrafish (Danio rerio) |
Actinopterygii | hace1 30 31 |
|
OneToOne | |
Baker's yeast (Saccharomyces cerevisiae) |
Saccharomycetes | TOM1 31 |
|
OneToMany | |
Sea Squirt (Ciona savignyi) |
Ascidiacea | -- 31 |
|
OneToOne |
SNP ID | Clinical significance and condition | Chr 06 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
636307 | Likely Pathogenic: Psychomotor retardation | 104,849,166(-) | G/T | MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT,FIVE_PRIME_UTR_VARIANT | |
716137 | Benign: not provided | 104,796,938(-) | T/C | NON_CODING_TRANSCRIPT_VARIANT,SYNONYMOUS_VARIANT,FIVE_PRIME_UTR_VARIANT | |
718998 | Likely Benign: not provided | 104,785,317(-) | A/G | NON_CODING_TRANSCRIPT_VARIANT,SYNONYMOUS_VARIANT | |
722372 | Likely Benign: not provided | 104,772,027(-) | A/G | NON_CODING_TRANSCRIPT_VARIANT,SYNONYMOUS_VARIANT | |
723165 | Benign: not provided | 104,849,237(-) | C/A | NON_CODING_TRANSCRIPT_VARIANT,SYNONYMOUS_VARIANT,FIVE_PRIME_UTR_VARIANT |
Disorder | Aliases | PubMed IDs |
---|---|---|
spastic paraplegia and psychomotor retardation with or without seizures |
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visual epilepsy |
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neuroblastoma |
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wilms tumor 1 |
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