Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
55666
Gene name Gene Name - the full gene name approved by the HGNC.
NPL4 homolog, ubiquitin recognition factor
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
NPLOC4
Synonyms (NCBI Gene) Gene synonyms aliases
NPL4
Chromosome Chromosome number
17
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
17q25.3
miRNA miRNA information provided by mirtarbase database.
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 information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0005515 Function Protein binding IPI 11574150, 18775313, 20414249, 21645854, 32296183, 32814053
GO:0005634 Component Nucleus HDA 21630459
GO:0005634 Component Nucleus IBA 21873635
GO:0005654 Component Nucleoplasm TAS
GO:0005783 Component Endoplasmic reticulum ISS 11574150
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
606590 18261 ENSG00000182446
Protein
UniProt ID 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 information provided by ClinVar, GenCC, and GWAS databases.
Causal
Disease term Disease name dbSNP ID References
Age-related macular degeneration Age related macular degeneration rs199474657, rs61750120, rs1800728, rs62654397, rs61749423, rs61751412, rs61749439, rs61751398, rs61752417, rs62645946, rs1801269, rs62646860, rs61750142, rs61750145, rs61750152
View all (20 more)
26691988
Myopia Myopia rs387907109, rs146936371, rs587776903, rs786205127, rs398122836, rs199624584, rs587777625, rs786205216, rs758872875, rs764211125, rs1135402746, rs765658563, rs1555941129, rs1555941116, rs199923805
View all (6 more)
27182965
Unknown
Disease term Disease name Evidence References Source
Strabismus Strabismus GWAS
Associations from Text Mining
Disease Name Relationship Type References
Adenocarcinoma of Lung Associate 37047493
Alcoholism Associate 33402676
Alzheimer Disease Associate 30535121
Astigmatism Associate 30306274
Carcinoma Squamous Cell Associate 37993584
Hereditary Breast and Ovarian Cancer Syndrome Associate 30535121
Inclusion Body Myopathy With Early Onset Paget Disease And Frontotemporal Dementia Associate 28512218, 31623962
Macular Degeneration Associate 30535121
Myopia Associate 30306274, 30535121
Neoplasms Associate 32085572, 33328215, 33402676, 37993584