UFD1 (ubiquitin recognition factor in ER associated degradation 1)

Gene
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
7353
Gene name Gene Name - the full gene name approved by the HGNC.
Ubiquitin recognition factor in ER associated degradation 1
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
UFD1
Synonyms (NCBI Gene) Gene synonyms aliases
UFD1L
Chromosome Chromosome number
22
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
22q11.21
Summary Summary of gene provided in NCBI Entrez Gene.
The protein encoded by this gene forms a complex with two other proteins, nuclear protein localization-4 and valosin-containing protein, and this complex is necessary for the degradation of ubiquitinated proteins. In addition, this complex controls the di
miRNA miRNA information provided by mirtarbase database.
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(17)
miRTarBase ID miRNA Experiments Reference
MIRT651902 hsa-miR-211-5p HITS-CLIP 23824327
MIRT651901 hsa-miR-204-5p HITS-CLIP 23824327
MIRT651900 hsa-miR-5088-5p HITS-CLIP 23824327
MIRT651899 hsa-miR-4446-3p HITS-CLIP 23824327
MIRT651898 hsa-miR-3158-3p HITS-CLIP 23824327
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(25)
GO ID Ontology Definition Evidence Reference
GO:0001501 Process Skeletal system development TAS 10024240
GO:0004843 Function Thiol-dependent ubiquitin-specific protease activity TAS 9063746
GO:0005102 Function Signaling receptor binding IEA
GO:0005515 Function Protein binding IPI 11574150, 17681147, 18775313, 20414249, 21645854, 25959826, 26712280, 32296183, 32814053
GO:0005634 Component Nucleus HDA 21630459
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
601754 12520 ENSG00000070010
Protein
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID Q92890
Protein name Ubiquitin recognition factor in ER-associated degradation protein 1 (Ubiquitin fusion degradation protein 1) (UB fusion protein 1)
Protein function Essential component of the ubiquitin-dependent proteolytic pathway which degrades ubiquitin fusion proteins. The ternary complex containing UFD1, VCP and NPLOC4 binds ubiquitinated proteins and is necessary for the export of misfolded proteins f
PDB 2YUJ , 5B6C , 5C1B , 7WWQ
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF03152 UFD1 19 → 194 Ubiquitin fusion degradation protein UFD1 Family
Tissue specificity TISSUE SPECIFICITY: Found in adult heart, skeletal muscle and pancreas, and in fetal liver and kidney.
Sequence 
MFSFNMFDHPIPRVFQNRFSTQYRCFSVSMLAGPNDRSDVEKGGKIIMPPSALDQLSRLN
ITYPMLFKLTNKNSDRMTHCGVLEFVADEGICYLPHWMMQNLLLEEGGLVQVESVNLQVA
TYSKFQPQSPDFLDITNPKAVLENALRNFACLTTGDVIAINYNEKIYELRVMETKPDKAV
SIIECDMNVDFDAPLGYKEPERQVQHEESTEGEADHSGYAGELGFRAFSGSGNRLDGKKK
GVEPSPSPIKPGDIKRGIPNYEFKLGKITFIRNSRPLVKKVEEDEAGGRFVAFSGEGQSL
RKKGRKP
Sequence length 307
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
  KEGG   Reactome
  Protein processing in endoplasmic reticulum   Translesion Synthesis by POLH
Ub-specific processing proteases
Associated diseases Disease information provided by ClinVar, GenCC, and GWAS databases.
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Causal Diseases (31)
Causal
Disease term Disease name dbSNP ID References
Arthritis Arthritis rs1594890601, rs1594882933, rs184370809, rs776489319, rs1594883470
Atrial septal defect Atrial Septal Defects rs137852951, rs137852953, rs137852955, rs267607106, rs104893900, rs104893901, rs104893903, rs606231358, rs606231359, rs137852683, rs606231360, rs104893907, rs104894073, rs1585703301, rs104894074
View all (25 more)
Attention deficit hyperactivity disorder Attention deficit hyperactivity disorder rs786205019
Autism Autistic Disorder rs121964908, rs62643608, rs181327458, rs797046134, rs869312704, rs1555013332, rs876657679, rs1057518999, rs1057518658, rs771827120, rs1555187899, rs773080572, rs753871454, rs1684130791, rs1684180699
View all (8 more)
Show/Hide Unknown Diseases (9)
Unknown
Disease term Disease name Evidence References Source
22q11.2 deletion syndrome 22q11.2 deletion syndrome ClinVar
Asthma Asthma ClinVar
Chronic obstructive pulmonary disease Chronic Obstructive Airway Disease ClinVar
Major affective disorder MAJOR AFFECTIVE DISORDER 2, MAJOR AFFECTIVE DISORDER 1, MAJOR AFFECTIVE DISORDER 4, MAJOR AFFECTIVE DISORDER 6, MAJOR AFFECTIVE DISORDER 7, MAJOR AFFECTIVE DISORDER 8, MAJOR AFFECTIVE DISORDER 9 ClinVar
Show/Hide Text Mining Associations (2)
Associations from Text Mining
Disease Name Relationship Type References
DiGeorge Syndrome Associate 22763378, 26221035
Inclusion Body Myopathy With Early Onset Paget Disease And Frontotemporal Dementia Associate 28512218, 31623962