Entity Details

Primary name UBAP1
Entity type gene
Source Source Link

Details

PrimaryID51271
RefseqGene
SymbolUBAP1
Nameubiquitin associated protein 1
Chromosome9
Location9p13.3
TaxID9606
Statuslive
SourceGenomegenomic
SourceOriginnatural
CreationDate2000-06-08
ModificationDate2021-06-11

Ontological Relatives

UniProt IDsUBAP1_HUMAN

GO terms

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GOName
GO:0000813 ESCRT I complex
GO:0005737 cytoplasm
GO:0005829 cytosol
GO:0005886 plasma membrane
GO:0010008 endosome membrane
GO:0015031 protein transport
GO:0016197 endosomal transport
GO:0019058 viral life cycle
GO:0043130 ubiquitin binding
GO:0043162 ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway
GO:0043231 intracellular membrane-bounded organelle
GO:0043657 host cell
GO:0075733 intracellular transport of virus

Diseases

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Disease IDSourceNameDescription
618418 OMIMSpastic paraplegia 80, autosomal dominant (SPG80)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. The disease is caused by variants affecting the gene represented in this entry.