Gene Gene information from NCBI Gene database.
Entrez ID 55666
Gene name NPL4 homolog, ubiquitin recognition factor
Gene symbol NPLOC4
Synonyms (NCBI Gene)
NPL4
Chromosome 17
Chromosome location 17q25.3
miRNA miRNA information provided by mirtarbase database.
666
miRTarBase ID miRNA Experiments Reference
MIRT023001 hsa-miR-124-3p Microarray 18668037
MIRT049037 hsa-miR-92a-3p CLASH 23622248
MIRT044586 hsa-miR-320a CLASH 23622248
MIRT044371 hsa-miR-106b-5p CLASH 23622248
MIRT038064 hsa-miR-423-5p CLASH 23622248
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
40
GO ID Ontology Definition Evidence Reference
GO:0005515 Function Protein binding IPI 11574150, 17070805, 18775313, 20414249, 21645854, 26471729, 32296183, 32814053, 33961781, 35271311, 37776851
GO:0005634 Component Nucleus HDA 21630459
GO:0005634 Component Nucleus IBA
GO:0005634 Component Nucleus IEA
GO:0005654 Component Nucleoplasm TAS
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
606590 18261 ENSG00000182446
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q8TAT6
Protein name Nuclear protein localization protein 4 homolog (Protein NPL4)
Protein function The ternary complex containing UFD1, VCP and NPLOC4 binds ubiquitinated proteins and is necessary for the export of misfolded proteins from the ER to the cytoplasm, where they are degraded by the proteasome. The NPLOC4-UFD1-VCP complex regulates
PDB 7WWP , 7WWQ
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF11543 UN_NPL4 1 80 Nuclear pore localisation protein NPL4 Family
PF05020 zf-NPL4 105 245 NPL4 family, putative zinc binding region Family
PF05021 NPL4 248 557 NPL4 family Family
Tissue specificity TISSUE SPECIFICITY: Expressed at highest levels in brain, heart, skeletal muscle, kidney and fetal liver. {ECO:0000269|PubMed:11574150}.
Sequence
Sequence length 608
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  Protein processing in endoplasmic reticulum   Translesion Synthesis by POLH
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
8
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)
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
AMBLYOPIA GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ATROPHIC MACULAR DEGENERATION GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
BENIGN NEOPLASM OF EYE GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CATARACT GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Age related macular degeneration Age-related macular degeneration GWASCAT_DG 26691988
★☆☆☆☆
Found in Text Mining only
Alzheimer Disease Alzheimer disease Pubtator 30535121 Associate
★☆☆☆☆
Found in Text Mining only
Astigmatism Astigmatism GWASCAT_DG 30306274
★☆☆☆☆
Found in Text Mining only
Astigmatism Astigmatism Pubtator 30306274 Associate
★☆☆☆☆
Found in Text Mining only
Bladder Neoplasm Bladder Neoplasm BEFREE 31164795
★☆☆☆☆
Found in Text Mining only
Carcinoma of bladder Bladder carcinoma BEFREE 31164795
★☆☆☆☆
Found in Text Mining only
Carcinoma Squamous Cell Squamous cell carcinoma Pubtator 37993584 Associate
★☆☆☆☆
Found in Text Mining only
DiGeorge Syndrome DiGeorge Syndrome BEFREE 11574150
★☆☆☆☆
Found in Text Mining only
Exudative age-related macular degeneration Exudative Macular Degeneration GWASCAT_DG 26691988
★☆☆☆☆
Found in Text Mining only
exudative macular degeneration Exudative macular degeneration GWASCAT_DG 26691988
★☆☆☆☆
Found in Text Mining only