UFD1 (ubiquitin recognition factor in ER associated degradation 1)

Gene Gene information from NCBI Gene database.
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID 7353
Gene name Ubiquitin recognition factor in ER associated degradation 1
Gene symbol UFD1
Synonyms (NCBI Gene)
UFD1L
Chromosome 22
Chromosome location 22q11.21
Summary 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.
17
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 (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
31
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all (31)
GO ID Ontology Definition Evidence Reference
GO:0001501 Process Skeletal system development TAS 10024240
GO:0004843 Function Cysteine-type deubiquitinase activity TAS 9063746
GO:0005515 Function Protein binding IPI 11574150, 17681147, 18775313, 20414249, 21645854, 25959826, 26712280, 32296183, 32814053, 33961781, 35271311, 37776851
GO:0005634 Component Nucleus HDA 21630459
GO:0005634 Component Nucleus IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
601754 12520 ENSG00000070010
Protein Protein information from UniProt database.
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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 associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
8
Gene miRNA Gene ontology Other IDs Protein Pathways 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 (8)
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
22Q11.2 DELETION SYNDROME — Orphanet
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Cervical cancer Benign ClinVar
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CONGENITAL HEART DEFECTS — Disgenet
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CRANIOFACIAL ABNORMALITIES — CTD, Disgenet
CTD, Disgenet
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Show/Hide Text Mining Associations (102)
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
22q11 Deletion Syndrome 22q11 deletion syndrome BEFREE 10024240, 11485030
★★★★★
★☆☆☆☆
Found in Text Mining only
22q11 Deletion Syndrome 22q11 deletion syndrome ORPHANET_DG
★★★★★
★☆☆☆☆
Found in Text Mining only
22q11 partial monosomy syndrome 22q11 partial monosomy syndrome ORPHANET_DG
★★★★★
★☆☆☆☆
Found in Text Mining only
22q11.2 deletion syndrome 22q11.2 deletion syndrome Orphanet
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Acne Acne HPO_DG
★★★★★
★☆☆☆☆
Found in Text Mining only
Acrocephaly Acrocephaly HPO_DG
★★★★★
★☆☆☆☆
Found in Text Mining only
Anus, Imperforate Imperforate anus HPO_DG
★★★★★
★☆☆☆☆
Found in Text Mining only
Anxiety Anxiety Disorder HPO_DG
★★★★★
★☆☆☆☆
Found in Text Mining only
Arachnodactyly Arachnodactyly HPO_DG
★★★★★
★☆☆☆☆
Found in Text Mining only
Arhinencephaly Arrhinencephaly HPO_DG
★★★★★
★☆☆☆☆
Found in Text Mining only