Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
56893
Gene name Gene Name - the full gene name approved by the HGNC.
Ubiquilin 4
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
UBQLN4
Synonyms (NCBI Gene) Gene synonyms aliases
A1U, A1Up, C1orf6, CIP75, UBIN
Chromosome Chromosome number
1
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
1q22
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT025950 hsa-miR-7-5p Microarray 17612493
MIRT050691 hsa-miR-18a-5p CLASH 23622248
MIRT044533 hsa-miR-320a CLASH 23622248
MIRT041788 hsa-miR-484 CLASH 23622248
MIRT039209 hsa-miR-769-5p 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 11001934, 16713569, 18307982, 20940304, 23459205, 27113755, 30612738
GO:0005634 Component Nucleus IDA 11001934, 29666234, 30612738
GO:0005654 Component Nucleoplasm IDA
GO:0005737 Component Cytoplasm IDA 11001934, 30612738
GO:0005776 Component Autophagosome IDA 23459205
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
605440 1237 ENSG00000160803
Protein
UniProt ID Q9NRR5
Protein name Ubiquilin-4 (Ataxin-1 interacting ubiquitin-like protein) (A1Up) (Ataxin-1 ubiquitin-like-interacting protein A1U) (Connexin43-interacting protein of 75 kDa) (CIP75)
Protein function Regulator of protein degradation that mediates the proteasomal targeting of misfolded, mislocalized or accumulated proteins (PubMed:15280365, PubMed:27113755, PubMed:29666234, PubMed:30612738). Acts by binding polyubiquitin chains of target prot
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00240 ubiquitin 15 85 Ubiquitin family Domain
PF00627 UBA 558 595 UBA/TS-N domain Domain
Tissue specificity TISSUE SPECIFICITY: Highly expressed in pancreas, kidney, skeletal muscle, heart and throughout the brain, and at lower levels in placenta, lung and liver. {ECO:0000269|PubMed:11001934}.
Sequence
MAEPSGAETRPPIRVTVKTPKDKEEIVICDRASVKEFKEEISRRFKAQQDQLVLIFAGKI
LKDGDTLNQHGIKDGLTVHLVIKTP
QKAQDPAAATASSPSTPDPASAPSTTPASPATPAQ
PSTSGSASSDAGSGSRRSSGGGPSPGAGEGSPSATASILSGFGGILGLGSLGLGSANFME
LQQQMQRQLMSNPEMLSQIMENPLVQDMMSNPDLMRHMIMANPQMQQLMERNPEISHMLN
NPELMRQTMELARNPAMMQEMMRNQDRALSNLESIPGGYNALRRMYTDIQEPMFSAAREQ
FGNNPFSSLAGNSDSSSSQPLRTENREPLPNPWSPSPPTSQAPGSGGEGTGGSGTSQVHP
TVSNPFGINAASLGSGMFNSPEMQALLQQISENPQLMQNVISAPYMRSMMQTLAQNPDFA
AQMMVNVPLFAGNPQLQEQLRLQLPVFLQQMQNPESLSILTNPRAMQALLQIQQGLQTLQ
TEAPGLVPSLGSFGISRTPAPSAGSNAGSTPEAPTSSPATPATSSPTGASSAQQQLMQQM
IQLLAGSGNSQVQTPEVRFQQQLEQLNSMGFINREANLQALIATGGDINAAIERLLGSQL
S
Sequence length 601
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  
  Protein processing in endoplasmic reticulum
Amyotrophic lateral sclerosis
 
Associated diseases Disease information provided by ClinVar, GenCC, and GWAS databases.
Causal
Disease term Disease name dbSNP ID References
Lateral sclerosis AMYOTROPHIC LATERAL SCLEROSIS 1 rs386134181, rs386134176, rs386134174, rs386134184, rs386134178, rs1693780539, rs1574698048 28463112
Associations from Text Mining
Disease Name Relationship Type References
Asthma Associate 29794786
Esophageal Squamous Cell Carcinoma Associate 33605536
Genetic Diseases Inborn Associate 30612738
Genomic Instability Associate 30612738
Hereditary Breast and Ovarian Cancer Syndrome Stimulate 36291176
Leukemia Myeloid Acute Associate 39650664
Neoplasms Associate 30612738, 36291176
Neurodegenerative Diseases Associate 26990090, 33431932
Non alcoholic Fatty Liver Disease Associate 28796060
Ovarian Neoplasms Associate 36291176