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GeneE
10 sources retrieved Β· Most recent: April 2026 Β· Index updated 15 days ago
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UBAP1
ubiquitin associated protein 1
Chromosome 9 Β· 9p13.3
NCBI Gene: 51271Ensembl: ENSG00000165006.15HGNC: HGNC:12461UniProt: A0A6G6AA68
69PubMed Papers
21Diseases
0Drugs
21Pathogenic Variants
FUNCTIONAL ROLE
Highly ConstrainedTransporter
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
protein bindingubiquitin bindingubiquitin-dependent protein catabolic process via the multivesicular body sorting pathwaycytoplasmspastic paraplegia 80, autosomal dominanthereditary spastic paraplegianeurodegenerative diseaseHIV infection
✦AI Summary

UBAP1 (ubiquitin associated protein 1) is a core component of the ESCRT-I complex that regulates endosomal sorting and protein degradation. Functionally, UBAP1 binds ubiquitinated cargo proteins and directs their sorting into multivesicular bodies (MVBs) for lysosomal degradation 1. The protein recognizes ubiquitinated substrates through its UEV domain-containing complex partners and mediates microautophagy of protein aggregates, including tau and STING 23. UBAP1 also plays a homeostatic role in terminating innate immune signaling by promoting STING degradation at endosomes, thereby regulating type I interferon responses 3. Additionally, UBAP1 localizes to damaged lysosomes to coordinate lysosomal repair and maintains proper mTORC1 signaling localization 4. Disease relevance is significant: loss-of-function mutations in UBAP1 cause spastic paraplegia 80 (SPG80), a rare hereditary spastic paraplegia characterized by juvenile-onset progressive lower limb spasticity 51. SPG80 mutations impair UBAP1 recruitment to endosome membranes, causing accumulation of ubiquitinated proteins, aberrant endosome clustering, and neurodegeneration 1. Notably, a SPG80 UBAP1 mutant enhances STING-dependent interferon responses in immune cells, suggesting immune dysregulation contributes to disease pathology 3. Rapamycin treatment shows promise in restoring lysosomal homeostasis and attenuating disease progression in UBAP1-deficiency models 4.

Sources cited
1
UBAP1 is part of ESCRT complex that promotes STING degradation and terminates STING-mediated signaling; SPG80 UBAP1 mutant increases steady-state STING-dependent type I IFN responses
PMID: 36739287
2
UBAP1 mutations cause juvenile-onset SPG80; mutant UBAP1 cannot bind ubiquitin or recruit to endosome membranes; loss of UBAP1 perturbs endosomal dynamics and ubiquitinated cargo sorting
PMID: 31515522
3
Stop-gain UBAP1 mutations cause autosomal-dominant spastic paraplegia; UBAP1 truncation causes endosome enlargement, aberrant clustering, and cytoplasmic accumulation of ubiquitinated proteins; UBAP1 disruption promotes neurodegeneration
PMID: 31203368
4
UBAP1-containing ESCRT-I complex recognizes ubiquitylated tau aggregates via TSG101 UEV domain and mediates endosomal microautophagy of protein aggregates
PMID: 40197510
5
UBAP1 mediates lysosome recovery and maintains mTOR localization on lysosomes; loss of UBAP1 causes lysosomal dysfunction and mTORC1 dysregulation; rapamycin treatment restores lysosomal homeostasis in Ubap1 deficiency mice
PMID: 41203601
Disease Associationsβ“˜21
spastic paraplegia 80, autosomal dominantOpen Targets
0.75Strong
hereditary spastic paraplegiaOpen Targets
0.59Moderate
neurodegenerative diseaseOpen Targets
0.54Moderate
HIV infectionOpen Targets
0.53Moderate
viral diseaseOpen Targets
0.46Moderate
Autosomal dominant spastic paraplegia type 12Open Targets
0.38Weak
type 2 diabetes mellitusOpen Targets
0.35Weak
neuroendocrine neoplasmOpen Targets
0.31Weak
diabetes mellitusOpen Targets
0.31Weak
genetic disorderOpen Targets
0.19Weak
familial amyotrophic lateral sclerosisOpen Targets
0.07Suggestive
Primary lateral sclerosisOpen Targets
0.07Suggestive
metabolic syndromeOpen Targets
0.06Suggestive
amyotrophic lateral sclerosisOpen Targets
0.05Suggestive
Spinocerebellar ataxia type 40Open Targets
0.05Suggestive
Autosomal recessive spastic paraplegia type 39Open Targets
0.05Suggestive
sporadic amyotrophic lateral sclerosisOpen Targets
0.05Suggestive
juvenile primary lateral sclerosisOpen Targets
0.05Suggestive
infantile-onset autosomal recessive nonprogressive cerebellar ataxiaOpen Targets
0.05Suggestive
amyotrophic lateral sclerosis type 4Open Targets
0.05Suggestive
Spastic paraplegia 80, autosomal dominantUniProt
Pathogenic Variants21
NM_016525.5(UBAP1):c.426_427del (p.Lys143fs)Pathogenic
Spastic paraplegia 80, autosomal dominant|Hereditary spastic paraplegia|not provided
β˜…β˜…β˜†β˜†2025β†’ Residue 143
NM_016525.5(UBAP1):c.478G>T (p.Glu160Ter)Likely pathogenic
Spastic paraplegia 80, autosomal dominant
β˜…β˜†β˜†β˜†2025β†’ Residue 160
NM_001171201.1(UBAP1):c.19G>T (p.Gly7Ter)Likely pathogenic
Spastic paraplegia 80, autosomal dominant
β˜…β˜†β˜†β˜†2025β†’ Residue 7
NM_016525.5(UBAP1):c.429dup (p.Val144fs)Likely pathogenic
Spastic paraplegia 80, autosomal dominant
β˜…β˜†β˜†β˜†2024β†’ Residue 144
NM_016525.5(UBAP1):c.324_325del (p.His108fs)Pathogenic
not provided
β˜…β˜†β˜†β˜†2024β†’ Residue 108
NM_016525.5(UBAP1):c.487G>T (p.Glu163Ter)Likely pathogenic
Spastic paraplegia 80, autosomal dominant
β˜…β˜†β˜†β˜†2024β†’ Residue 163
NM_016525.5(UBAP1):c.768del (p.Ile257fs)Likely pathogenic
Spastic paraplegia 80, autosomal dominant
β˜…β˜†β˜†β˜†2024β†’ Residue 257
NM_016525.5(UBAP1):c.-20C>TLikely pathogenic
Spastic paraplegia 80, autosomal dominant
β˜…β˜†β˜†β˜†2024
NM_016525.5(UBAP1):c.476_477del (p.Asp158_Phe159insTer)Pathogenic
Spastic paraplegia 80, autosomal dominant
β˜…β˜†β˜†β˜†2023β†’ Residue 158
NM_016525.5(UBAP1):c.293del (p.Gly98fs)Pathogenic
Spastic paraplegia 80, autosomal dominant
β˜…β˜†β˜†β˜†2022β†’ Residue 98
NM_016525.5(UBAP1):c.1265A>G (p.Gln422Arg)Likely pathogenic
Spastic paraplegia 80, autosomal dominant
β˜…β˜†β˜†β˜†2021β†’ Residue 422
NM_016525.5(UBAP1):c.316A>T (p.Lys106Ter)Pathogenic
Spastic paraplegia 80, autosomal dominant
β˜…β˜†β˜†β˜†2019β†’ Residue 106
NM_016525.5(UBAP1):c.478_482dup (p.Cys161fs)Likely pathogenic
Spastic paraplegia 80, autosomal dominant
β˜†β˜†β˜†β˜†2022β†’ Residue 161
NM_016525.5(UBAP1):c.535G>T (p.Glu179Ter)Pathogenic
Spastic paraplegia 80, autosomal dominant
β˜†β˜†β˜†β˜†2020β†’ Residue 179
NM_016525.5(UBAP1):c.373C>T (p.Gln125Ter)Pathogenic
Spastic paraplegia 80, autosomal dominant
β˜†β˜†β˜†β˜†2020β†’ Residue 125
NM_016525.5(UBAP1):c.526G>T (p.Glu176Ter)Pathogenic
Spastic paraplegia 80, autosomal dominant
β˜†β˜†β˜†β˜†2019β†’ Residue 176
NM_016525.5(UBAP1):c.247_248insGTGAATTC (p.Ile83fs)Pathogenic
Spastic paraplegia 80, autosomal dominant
β˜†β˜†β˜†β˜†2019β†’ Residue 83
NM_016525.5(UBAP1):c.286_290dup (p.Glu97fs)Pathogenic
Spastic paraplegia 80, autosomal dominant
β˜†β˜†β˜†β˜†2019β†’ Residue 97
NM_016525.5(UBAP1):c.295dup (p.Asp99fs)Pathogenic
Spastic paraplegia 80, autosomal dominant
β˜†β˜†β˜†β˜†2019β†’ Residue 99
NM_016525.5(UBAP1):c.436_437insTGAG (p.Ser146fs)Pathogenic
Spastic paraplegia 80, autosomal dominant
β˜†β˜†β˜†β˜†2019β†’ Residue 146
View on ClinVar β†—
Related Genes
CHMP3Protein interaction100%UBCProtein interaction100%CHMP6Protein interaction100%CHMP1BProtein interaction99%CHMP5Protein interaction97%CHMP7Protein interaction97%
Tissue Expression6 tissues
Bone Marrow
100%
Lung
64%
Brain
60%
Liver
53%
Heart
49%
Ovary
49%
Gene Interaction Network
Click a node to explore
UBAP1CHMP3UBCCHMP6CHMP1BCHMP5CHMP7
PROTEIN STRUCTURE
Preparing viewer…
PDB4AE4 Β· 1.65 Γ… Β· X-ray
View on RCSB β†—
Constraintβ“˜
LOEUFβ“˜
0.28Highly Constrained
pLIβ“˜
1.00Intolerant
Observed/Expected LoF0.14 [0.07–0.28]
RankingsWhere UBAP1 stands among ~20K protein-coding genes
  • #6,865of 20,598
    Most Researched69
  • #2,149of 5,498
    Most Pathogenic Variants21
  • #1,025of 17,882
    Most Constrained (LOEUF)0.28 Β· top 10%
Genes detectedUBAP1
Sources retrieved10 papers
Response timeβ€”
πŸ“„ Sources
10β–Ό
1
ESCRT-dependent STING degradation inhibits steady-state and cGAMP-induced signalling.
PMID: 36739287
Nat Commun Β· 2023
1.00
2
Orphan Peripheral Neuropathies.
PMID: 32986679
J Neuromuscul Dis Β· 2021
0.90
3
Lysosomal and mTORC1 signaling dysregulation underpin the pathology of spastic paraplegia type 80.
PMID: 41203601
Nat Commun Β· 2025
0.80
4
Genetic and Epigenetic Regulation of the Innate Immune Response to Gout.
PMID: 36745138
Immunol Invest Β· 2023
0.70
5
HYPK coordinates degradation of polyneddylated proteins by autophagy.
PMID: 34836490
Autophagy Β· 2022
0.60