Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
390595
Gene name Gene Name - the full gene name approved by the HGNC.
Ubiquitin associated protein 1 like
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
UBAP1L
Synonyms (NCBI Gene) Gene synonyms aliases
UBAP-1L
Chromosome Chromosome number
15
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
15q22.31
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0000813 Component ESCRT I complex IBA
GO:0000813 Component ESCRT I complex IEA
GO:0043130 Function Ubiquitin binding IBA
GO:0043130 Function Ubiquitin binding IEA
GO:0043162 Process Ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway IBA
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
HGNC N/A HGNC
Protein
UniProt ID F5GYI3
Protein name Ubiquitin-associated protein 1-like (UBAP-1L)
Family and domains
Sequence
MNALDGVPFKLPKGFVIGTEPLPGPELSVPACGEVLLGSMHDFSLERTALFWVEAAGQGP
SPYQCGDPGTASAPPAWLLLVSPEHGLAPAPTTIRDPEAGHQERPEEEGEDEAEASSGSE
EEPAPSSLQPGSPASPGPGRRLCSLDVLRGVRLELAGARRRLSEGKLVSRPRALLHGLRG
HRALSLCPSPAQSPRSASPPGPAPQHPAAPASPPRPSTAGAIPPLRSHKPTVASLSPYTC
LPPLGGAPQPLNPHKSHPDTAADLLSALSQEEQDLIGPVVALGYPLRRAIIALQKTGRQS
LSQFLSYLSACDRLLRQGYEEGLVDEAMEMFQFSESQAGEFLRLWEQFSDMGFQQDRIKE
VLLVHGNRREQALEELVACAQ
Sequence length 381
Interactions View interactions
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Retinal Dystrophy inherited retinal dystrophy N/A N/A GenCC
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Drug Related Side Effects and Adverse Reactions Associate 30194076
Myopia Associate 38420906
Refsum Disease Infantile Associate 38420906
Retinal Degeneration Associate 38420906
Retinal Detachment Associate 38420906
Retinal Diseases Associate 38420906
Retinal Dystrophies Associate 39293306