• Gene id: 55793

Gene Summary

• Gene Symbol: MINDY1   Gene   UCSC   Ensembl
• Aliases: FAM63A, MINDY-1
• Gene name: MINDY lysine 48 deubiquitinase 1
• Alternate names: ubiquitin carboxyl-terminal hydrolase MINDY-1, MINDY deubiquitinase 1, MIU-containing novel DUB family member 1, deubiquitinating enzyme MINDY-1, family with sequence similarity 63 member A, motif interacting with Ub-containing novel DUB, protein FAM63A,
• Gene location: 1q21.3 (151008392: 150996535)     Exons: 13     NC_000001.11
• OMIM: 618407

Protein Summary

• Protein general information: Q8N5J2  
  • Name: Ubiquitin carboxyl terminal hydrolase MINDY 1 (EC 3.4.19.12) (Deubiquitinating enzyme MINDY 1) (Protein FAM63A)
  • Length: 469  
  • Mass: 51778
• Sequence:

  MEYHQPEDPAPGKAGTAEAVIPENHEVLAGPDEHPQDTDARDADGEAREREPADQALLPSQCGDNLESPLPEASS
  APPGPTLGTLPEVETIRACSMPQELPQSPRTRQPEPDFYCVKWIPWKGEQTPIITQSTNGPCPLLAIMNILFLQW
  KVKLPPQKEVITSDELMAHLGNCLLSIKPQEKSEGLQLNFQQNVDDAMTVLPKLATGLDVNVRFTGVSDFEYTPE
  CSVFDLLGIPLYHGWLVDPQSPEAVRAVGKLSYNQLVERIITCKHSSDTNLVTEGLIAEQFLETTAAQLTYHGLC
  ELTAAAKEGELSVFFRNNHFSTMTKHKSHLYLLVTDQGFLQEEQVVWESLHNVDGDSCFCDSDFHLSHSLGKGPG
  AEGGSGSPETQLQVDQDYLIALSLQQQQPRGPLGLTDLELAQQLQQEEYQQQQAAQPVRMRTRVLSLQGRGATSG
  RPAGERRQRPKHESDCILL

• Structural information:
  • Interpro: IPR007518  IPR033979  
  • PDB: 5JKN 5JQS 5MN9
  • PDBsum: 5JKN 5JQS 5MN9
  • STRING: ENSP00000354669
• Other Databases: GeneCards:  MINDY1  Malacards:  MINDY1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005829	cytosol	IBA	cellular component
GO:0016807	cysteine-type carboxypeptidase activity	IBA	molecular function
GO:0071944	cell periphery	IBA	cellular component
GO:0071108	protein K48-linked deubiquitination	IBA	biological process
GO:1990380	Lys48-specific deubiquitinase activity	IBA	molecular function
GO:0016807	cysteine-type carboxypeptidase activity	IDA	molecular function
GO:0036435	K48-linked polyubiquitin modification-dependent protein binding	IDA	molecular function
GO:1990380	Lys48-specific deubiquitinase activity	IDA	molecular function
GO:0004843	thiol-dependent ubiquitin-specific protease activity	IEA	molecular function
GO:1990380	Lys48-specific deubiquitinase activity	IEA	molecular function
GO:0006508	proteolysis	IEA	biological process
GO:0008233	peptidase activity	IEA	molecular function
GO:0016787	hydrolase activity	IEA	molecular function
GO:0008234	cysteine-type peptidase activity	IEA	molecular function
GO:0036459	thiol-dependent ubiquitinyl hydrolase activity	IEA	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005654	nucleoplasm	IDA	cellular component
GO:0016604	nuclear body	IDA	cellular component
GO:0008150	biological_process	ND	biological process

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881