UBAP1L (ubiquitin associated protein 1 like)

Gene Gene information from NCBI Gene database.
Gene Gene ontology Other IDs Protein Associated diseases
Entrez ID 390595
Gene name Ubiquitin associated protein 1 like
Gene symbol UBAP1L
Synonyms (NCBI Gene)
UBAP-1L
Chromosome 15
Chromosome location 15q22.31
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
6
Gene Gene ontology Other IDs Protein Associated diseases
Show/Hide all (6)
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 identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene Gene ontology Other IDs Protein Associated diseases
MIM HGNC e!Ensembl
HGNC N/A HGNC
Protein Protein information from UniProt database.
Gene Gene ontology Other IDs Protein Associated diseases
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
3
Gene Gene ontology Other IDs Protein Associated diseases
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Show/Hide Unknown Diseases (3)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
CONE ROD DYSTROPHY — Orphanet
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CONE-ROD DYSTROPHIES — Disgenet
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
RETINAL DEGENERATION — GenCC
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Show/Hide Text Mining Associations (5)
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Myopia Myopia Pubtator 38420906 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Retinal Degeneration Retinal degeneration Pubtator 38420906 Associate
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Retinal Detachment Retinal detachment Pubtator 38420906 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Retinal Diseases Retinal detachment Pubtator 38420906 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Retinitis Pigmentosa Retinitis Pigmentosa GENOMICS_ENGLAND_DG 28041643
★★★★★
★☆☆☆☆
Found in Text Mining only