MINDY3 (MINDY lysine 48 deubiquitinase 3)

Gene

• Entrez ID: 80013
• Gene name: MINDY lysine 48 deubiquitinase 3
• Gene symbol: MINDY3
• Synonyms (NCBI Gene): C10orf97, CARP, DERP5, FAM188A, MST126, MSTP126, my042
• Chromosome: 10
• Chromosome location: 10p13
• Summary: The protein encoded by this gene contains a caspase-associated recruitment domain and may function in apoptosis. It has been identified as a tumor suppressor in lung and gastric cancers, and a polymorphism in the gene may be associated with gastric cancer

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0004843	Function	Cysteine-type deubiquitinase activity	IDA	27292798
GO:0004843	Function	Cysteine-type deubiquitinase activity	IEA
GO:0005515	Function	Protein binding	IPI	21499297, 25416956, 28514442, 31515488, 32296183, 33961781
GO:0005634	Component	Nucleus	IEA
GO:0005654	Component	Nucleoplasm	IDA
GO:0006508	Process	Proteolysis	IEA
GO:0006915	Process	Apoptotic process	IEA
GO:0008233	Function	Peptidase activity	IEA
GO:0008234	Function	Cysteine-type peptidase activity	IEA
GO:0016787	Function	Hydrolase activity	IEA
GO:0031965	Component	Nuclear membrane	IDA
GO:0071108	Process	Protein K48-linked deubiquitination	IEA
GO:1990380	Function	K48-linked deubiquitinase activity	IBA
GO:1990380	Function	K48-linked deubiquitinase activity	IDA	27292798
GO:1990380	Function	K48-linked deubiquitinase activity	IEA

Other IDs

• MIM: 611649
• HGNC: 23578
• e!Ensembl: ENSG00000148481

Protein

• UniProt ID: Q9H8M7
• Protein name: Ubiquitin carboxyl-terminal hydrolase MINDY-3 (EC 3.4.19.12) (Dermal papilla-derived protein 5) (Deubiquitinating enzyme MINDY-3) (Protein CARP)
• Protein function: Hydrolase that can remove 'Lys-48'-linked conjugated ubiquitin from proteins.
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF13898	DUF4205	21 → 315	Domain of unknown function (DUF4205)	Domain

• Tissue specificity: TISSUE SPECIFICITY: Widely expressed with high levels in heart, skeletal muscle, and kidney, and low levels in liver and brain (PubMed:12054670). Also expressed in lung (at protein level) (PubMed:21499297). {ECO:0000269|PubMed:12054670, ECO:0000269|PubMed
• Sequence:

  MSELTKELMELVWGTKSSPGLSDTIFCRWTQGFVFSESEGSALEQFEGGPCAVIAPVQAF
  LLKKLLFSSEKSSWRDCSEEEQKELLCHTLCDILESACCDHSGSYCLVSWLRGKTTEETA
  SISGSPAESSCQVEHSSALAVEELGFERFHALIQKRSFRSLPELKDAVLDQYSMWGNKFG
  VLLFLYSVLLTKGIENIKNEIEDASEPLIDPVYGHGSQSLINLLLTGHAVSNVWDGDREC
  SGMKLLGIHEQAAVGFLTLMEALRYCKVGSYLKSPKFPIWIVGSETHLTVFFAKDMALVA
  PEAPSEQARRVFQTYDPEDNGFIPDSLLEDVMKALDLVSDPEYINLMKNKLDPEGLGIIL
  LGPFLQEFFPDQGSSGPESFTVYHYNGLKQSNYNEKVMYVEGTAVVMGFEDPMLQTDDTP
  IKRCLQTKWPYIELLWTTDRSPSLN

• Sequence length: 445

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)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
Acute myeloid leukemia	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colon adenocarcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial cancer of breast	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LIVER CIRRHOSIS, EXPERIMENTAL	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
METABOLIC SYNDROME	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OROFACIAL CLEFT	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 2 DIABETES MELLITUS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Asthma	Asthma	Pubtator	37445644	Associate	★☆☆☆☆ Found in Text Mining only
Astrocytoma	Astrocytoma	BEFREE	29792187		★☆☆☆☆ Found in Text Mining only
Breast adenocarcinoma	Breast Adenocarcinoma	BEFREE	12377985		★☆☆☆☆ Found in Text Mining only
Carcinoma of lung	Lung carcinoma	BEFREE	21499297		★☆☆☆☆ Found in Text Mining only
Cardiomyopathy, Dilated	Cardiomyopathy	BEFREE	19525294, 27353086		★☆☆☆☆ Found in Text Mining only
Cardiomyopathy, Familial Idiopathic	Cardiomyopathy	BEFREE	19525294		★☆☆☆☆ Found in Text Mining only
Cerebrovascular accident	Stroke	BEFREE	29177102		★☆☆☆☆ Found in Text Mining only
Dermatitis Atopic	Atopic dermatitis	Pubtator	37445644	Associate	★☆☆☆☆ Found in Text Mining only
Hypertrophic Cardiomyopathy	Hypertrophic cardiomyopathy	BEFREE	19608031		★☆☆☆☆ Found in Text Mining only
Inflammatory Bowel Diseases	Inflammatory Bowel Disease	BEFREE	21248762		★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	BEFREE	23087022		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	29792187		★☆☆☆☆ Found in Text Mining only
Mental Retardation	Mental retardation	BEFREE	23087022		★☆☆☆☆ Found in Text Mining only
Mucosa-Associated Lymphoid Tissue Lymphoma	Mucosa-associated lymphoma	BEFREE	11445840		★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	21499297, 24870804, 29792187		★☆☆☆☆ Found in Text Mining only
Non-Small Cell Lung Carcinoma	Lung carcinoma	BEFREE	21499297		★☆☆☆☆ Found in Text Mining only
oligodendroglioma	Oligodendroglioma	BEFREE	29792187		★☆☆☆☆ Found in Text Mining only
Rhabdomyosarcoma	Rhabdomyosarcoma	BEFREE	12000728		★☆☆☆☆ Found in Text Mining only
Stomach Carcinoma	Stomach Carcinoma	BEFREE	24870804		★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	24870804	Associate	★☆☆☆☆ Found in Text Mining only
Well Differentiated Oligodendroglioma	Oligodendroglioma	BEFREE	29792187		★☆☆☆☆ Found in Text Mining only