Entity Details

Primary name HACE1
Entity type gene
Source Source Link

Details

PrimaryID57531
RefseqGeneNG_046782
SymbolHACE1
NameHECT domain and ankyrin repeat containing E3 ubiquitin protein ligase 1
Chromosome6
Location6q16.3
TaxID9606
Statuslive
SourceGenomegenomic
SourceOriginnatural
CreationDate2000-09-18
ModificationDate2021-06-11

Ontological Relatives

UniProt IDsHACE1_HUMAN

GO terms

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GOName
GO:0000139 Golgi membrane
GO:0000209 protein polyubiquitination
GO:0004842 ubiquitin-protein transferase activity
GO:0005634 nucleus
GO:0005737 cytoplasm
GO:0005783 endoplasmic reticulum
GO:0006511 ubiquitin-dependent protein catabolic process
GO:0007030 Golgi organization
GO:0007049 cell cycle
GO:0016567 protein ubiquitination
GO:0016601 Rac protein signal transduction
GO:0016604 nuclear body
GO:0030334 regulation of cell migration
GO:0031267 small GTPase binding
GO:0032580 Golgi cisterna membrane
GO:0043161 proteasome-mediated ubiquitin-dependent protein catabolic process
GO:0045732 positive regulation of protein catabolic process
GO:0061025 membrane fusion
GO:0061630 ubiquitin protein ligase activity
GO:0070936 protein K48-linked ubiquitination

Diseases

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Disease IDSourceNameDescription
616756 OMIMSpastic paraplegia and psychomotor retardation with or without seizures (SPPRS)A form of spastic paraplegia, a neurodegenerative disorder characterized by a slow, gradual, progressive weakness and spasticity of the lower limbs. Rate of progression and the severity of symptoms are quite variable. Initial symptoms may include difficulty with balance, weakness and stiffness in the legs, muscle spasms, and dragging the toes when walking. In some forms of the disorder, bladder symptoms (such as incontinence) may appear, or the weakness and stiffness may spread to other parts of the body. SPPRS is an autosomal recessive neurodevelopmental disorder manifesting in infancy. Affected individuals show hypotonia and psychomotor retardation. Most develop seizures. The disease is caused by variants affecting the gene represented in this entry.