MINDY1 (MINDY lysine 48 deubiquitinase 1)

Gene
Gene miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
55793
Gene name Gene Name - the full gene name approved by the HGNC.
MINDY lysine 48 deubiquitinase 1
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
MINDY1
Synonyms (NCBI Gene) Gene synonyms aliases
FAM63A, MINDY-1
Chromosome Chromosome number
1
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
1q21.3
miRNA miRNA information provided by mirtarbase database.
Gene miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all(14)
miRTarBase ID miRNA Experiments Reference
MIRT623979 hsa-miR-483-5p HITS-CLIP 23824327
MIRT623976 hsa-miR-411-5p HITS-CLIP 23824327
MIRT623978 hsa-miR-193b-5p HITS-CLIP 23824327
MIRT623977 hsa-miR-6832-5p HITS-CLIP 23824327
MIRT623976 hsa-miR-411-5p 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 Associated diseases
Show/Hide all(15)
GO ID Ontology Definition Evidence Reference
GO:0004843 Function Cysteine-type deubiquitinase activity IEA
GO:0005515 Function Protein binding IPI 25416956, 32296183, 32814053
GO:0005654 Component Nucleoplasm IDA
GO:0006508 Process Proteolysis IEA
GO:0008233 Function Peptidase activity IEA
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene miRNA Gene ontology Other IDs Protein Associated diseases
MIM HGNC e!Ensembl
618407 25648 ENSG00000143409
Protein
Gene miRNA Gene ontology Other IDs Protein Associated diseases
UniProt ID Q8N5J2
Protein name Ubiquitin carboxyl-terminal hydrolase MINDY-1 (EC 3.4.19.12) (Deubiquitinating enzyme MINDY-1) (Protein FAM63A)
Protein function Hydrolase that can specifically remove 'Lys-48'-linked conjugated ubiquitin from proteins. Has exodeubiquitinase activity and has a preference for long polyubiquitin chains. May play a regulatory role at the level of protein turnover. {ECO:00002
PDB 5JKN , 5JQS , 5MN9 , 6TUV , 6TXB , 6Y6R , 6YJG , 6Z90
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF04424 MINDY_DUB 143 → 266 MINDY deubiquitinase Family
Sequence 
MEYHQPEDPAPGKAGTAEAVIPENHEVLAGPDEHPQDTDARDADGEAREREPADQALLPS
QCGDNLESPLPEASSAPPGPTLGTLPEVETIRACSMPQELPQSPRTRQPEPDFYCVKWIP
WKGEQTPIITQSTNGPCPLLAIMNILFLQWKVKLPPQKEVITSDELMAHLGNCLLSIKPQ
EKSEGLQLNFQQNVDDAMTVLPKLATGLDVNVRFTGVSDFEYTPECSVFDLLGIPLYHGW
LVDPQSPEAVRAVGKLSYNQLVERIITCKHSSDTNLVTEGLIAEQFLETTAAQLTYHGLC
ELTAAAKEGELSVFFRNNHFSTMTKHKSHLYLLVTDQGFLQEEQVVWESLHNVDGDSCFC
DSDFHLSHSLGKGPGAEGGSGSPETQLQVDQDYLIALSLQQQQPRGPLGLTDLELAQQLQ
QEEYQQQQAAQPVRMRTRVLSLQGRGATSGRPAGERRQRPKHESDCILL
Sequence length 469
Interactions View interactions
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Gene miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide Unknown Diseases (1)
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Diabetes Type 2 diabetes (adjusted for BMI), Type 2 diabetes (PheCode 250.2), Type 2 diabetes N/A N/A GWAS
Show/Hide Text Mining Associations (2)
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Diabetes Mellitus Associate 32546605
Neoplasm Metastasis Associate 38433022