UBAP1 Chromosome 9
Ubiquitin associated protein 1
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What This Gene Does
This gene is a member of the UBA domain family, whose members include proteins having connections to ubiquitin and the ubiquitination pathway. The ubiquitin associated domain is thought to be a non-covalent ubiquitin binding domain consisting of a compact three helix bundle. This particular protein originates from a gene locus in a refined region on chromosome 9 undergoing loss of heterozygosity in nasopharyngeal carcinoma (NPC). Taking into account its cytogenetic location, this UBA domain family member is being studies as a putative target for mutation in nasopharyngeal carcinomas. Multiple alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2010]
Gene Info
Gene Group
ESCRT-I
Locus Type
gene with protein product
Location
9p13.3
Ensembl
ENSG00000165006
Associated Conditions (5)
Inborn genetic diseases
Spastic paraplegia 80
autosomal dominant
UBAP1-related disorder
Hereditary spastic paraplegia
Key Variants
RS146620671
Conflicting classifications of pathogenicity
Inborn genetic diseases, Spastic paraplegia 80, autosomal dominant
Health Risk
RS370655695
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS562285027
Conflicting classifications of pathogenicity
UBAP1-related disorder, UBAP1-related disorder
Health Risk
RS1227081826
Likely pathogenic
Spastic paraplegia 80, autosomal dominant, Spastic paraplegia 80
Health Risk
RS1563919973
Pathogenic
Spastic paraplegia 80, autosomal dominant, Spastic paraplegia 80
Health Risk
RS1563920000
Pathogenic
Spastic paraplegia 80, autosomal dominant, Spastic paraplegia 80
Health Risk
RS1563920132
Pathogenic
Spastic paraplegia 80, autosomal dominant, Spastic paraplegia 80
Health Risk
RS1563920172
Pathogenic
Spastic paraplegia 80, autosomal dominant, Spastic paraplegia 80
Health Risk
RS1563920252
Pathogenic
Spastic paraplegia 80, autosomal dominant, Hereditary spastic paraplegia
Health Risk
RS1563920268
Pathogenic
Spastic paraplegia 80, autosomal dominant, Spastic paraplegia 80
Health Risk
RS1587878722
Pathogenic
Spastic paraplegia 80, autosomal dominant, Spastic paraplegia 80
Health Risk
RS1587878961
Pathogenic
Spastic paraplegia 80, autosomal dominant, Spastic paraplegia 80
Health Risk
All Variants (16)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS146620671 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Spastic paraplegia 80, autosomal dominant |
| RS370655695 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS562285027 | Health Risk | Conflicting classifications of pathogenicity | UBAP1-related disorder, UBAP1-related disorder |
| RS1227081826 | Health Risk | Likely pathogenic | Spastic paraplegia 80, autosomal dominant, Spastic paraplegia 80 |
| RS1563919973 | Health Risk | Pathogenic | Spastic paraplegia 80, autosomal dominant, Spastic paraplegia 80 |
| RS1563920000 | Health Risk | Pathogenic | Spastic paraplegia 80, autosomal dominant, Spastic paraplegia 80 |
| RS1563920132 | Health Risk | Pathogenic | Spastic paraplegia 80, autosomal dominant, Spastic paraplegia 80 |
| RS1563920172 | Health Risk | Pathogenic | Spastic paraplegia 80, autosomal dominant, Spastic paraplegia 80 |
| RS1563920252 | Health Risk | Pathogenic | Spastic paraplegia 80, autosomal dominant, Hereditary spastic paraplegia |
| RS1563920268 | Health Risk | Pathogenic | Spastic paraplegia 80, autosomal dominant, Spastic paraplegia 80 |
| RS1587878722 | Health Risk | Pathogenic | Spastic paraplegia 80, autosomal dominant, Spastic paraplegia 80 |
| RS1587878961 | Health Risk | Pathogenic | Spastic paraplegia 80, autosomal dominant, Spastic paraplegia 80 |
| RS1587879449 | Health Risk | Pathogenic | Spastic paraplegia 80, autosomal dominant, Spastic paraplegia 80 |
| RS2131620305 | Health Risk | Pathogenic | Spastic paraplegia 80, autosomal dominant, Spastic paraplegia 80 |
| RS2491080250 | Health Risk | Pathogenic | Spastic paraplegia 80, autosomal dominant, Spastic paraplegia 80 |
| RS1833955862 | Health Risk | Pathogenic/Likely pathogenic | Spastic paraplegia 80, autosomal dominant, Spastic paraplegia 80 |