UBAP1
Ubiquitin-associated protein 1
Also known as: UBAP, UBAP1_HUMAN
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- Q9NZ09
- Gene
- UBAP1
- Ensembl
- ENSG00000165006
- Chromosome
- 9
- Canonical length
- 502 aa
- Protein class
- Disease related genes, Human disease related genes, Predicted intracellular proteins
- Subcellular location
- Vesicles,Plasma membrane,Cytosol
OverviewNCBI Gene
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]
Canonical amino-acid sequenceUniProt
502 residues, UniProt reviewed canonical sequence.
>Q9NZ09|UBAP1
1 MASKKLGADF HGTFSYLDDV PFKTGDKFKT PAKVGLPIGF SLPDCLQVVR EVQYDFSLEK
61 KTIEWAEEIK KIEEAEREAE CKIAEAEAKV NSKSGPEGDS KMSFSKTHST ATMPPPINPI
121 LASLQHNSIL TPTRVSSSAT KQKVLSPPHI KADFNLADFE CEEDPFDNLE LKTIDEKEEL
181 RNILVGTTGP IMAQLLDNNL PRGGSGSVLQ DEEVLASLER ATLDFKPLHK PNGFITLPQL
241 GNCEKMSLSS KVSLPPIPAV SNIKSLSFPK LDSDDSNQKT AKLASTFHST SCLRNGTFQN
301 SLKPSTQSSA SELNGHHTLG LSALNLDSGT EMPALTSSQM PSLSVLSVCT EESSPPNTGP
361 TVTPPNFSVS QVPNMPSCPQ AYSELQMLSP SERQCVETVV NMGYSYECVL RAMKKKGENI
421 EQILDYLFAH GQLCEKGFDP LLVEEALEMH QCSEEKMMEF LQLMSKFKEM GFELKDIKEV
481 LLLHNNDQDN ALEDLMARAG ASLocalizationUniProt · AlphaFold · HPA
Whether an antibody against UBAP1 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.
- Antibody reachability
- Intracellular
- Secreted
- No
- Transmembrane segments
- 0
- Mean surface accessibility (rSASA)
- 0.6
- Highest tissue expression
- 124 nTPM
Expression across tissuesHPA
Tissue
- bone marrow: 124 nTPM
- skeletal muscle: 105 nTPM
- esophagus: 68 nTPM
- tongue: 67 nTPM
- adrenal gland: 54 nTPM
- liver: 50 nTPM
Single-cell type
- neutrophils: 2,090 nCPM
- esophageal apical cells: 820 nCPM
- endometrial glandular cells: 487 nCPM
- neutrophil progenitors: 460 nCPM
- monocytes: 447 nCPM
- ocular epithelial cells: 406 nCPM
Immune cell
- neutrophil: 121 nTPM
- eosinophil: 67 nTPM
- MAIT T-cell: 66 nTPM
- total PBMC: 55 nTPM
- T-reg: 53 nTPM
- classical monocyte: 51 nTPM
Brain region
- thalamus: 59 nTPM
- pons: 58 nTPM
- cerebral cortex: 56 nTPM
- medulla oblongata: 56 nTPM
- midbrain: 55 nTPM
- hypothalamus: 55 nTPM
DiseaseUniProt · ClinVar · IEDB · PubMed
Four sources answering four different questions about UBAP1.
Disease | AllUniProt
Conditions UBAP1 is implicated in, by any mechanism.
- Spastic paraplegia 80, autosomal dominant (SPG80) MIM:618418
Disease | GeneticClinVar
21 pathogenic / likely-pathogenic of 129 ClinVar records.
Conditions with pathogenic or likely-pathogenic variants.
- Spastic paraplegia 80, autosomal dominant
- Hereditary spastic paraplegia
Genetic constraint and essentialitygnomAD · DepMap
Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.
- gnomAD LOEUF (loss-of-function intolerance)
- 0.38
- gnomAD pLI
- 0.91
- gnomAD missense Z
- 0.87
- DepMap mean gene effect
- -0.84
- DepMap dependency class
- common
Cancer expressionTCGA
Across TCGA tumor cohorts, this protein is over-expressed in roughly 6% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).
OntologyGO
Biological processes
- membrane fission
- multivesicular body assembly
- protein transport to vacuole involved in ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway
- ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway
Molecular functions
Cellular components
Protein domainsUniProt · Pfam · InterPro
KeywordsUniProt
InteractionsUniProt · HPA
Protein binding partners of UBAP1 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.
Antibody and autoantibody relevanceSeroatlas analysis
Seroatlas reads UBAP1 as an antibody target. Whether an autoantibody or antibody against UBAP1 could matter depends on whether native UBAP1 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
UBAP1 is annotated as predominantly intracellular. Intracellular proteins are common autoantibody markers, becoming visible to the immune system after cell injury or altered processing, but are usually markers of disease rather than direct drivers.
Annotation status
The present source text does not explicitly label UBAP1 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
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