• Gene id: 219293

Gene Summary

• Gene Symbol: ATAD3C   Gene   UCSC   Ensembl
• Gene name: ATPase family AAA domain containing 3C
• Alternate names: ATPase family AAA domain-containing protein 3C, ATPase family, AAA domain containing 3A,
• Gene location: 1p36.33 (1449688: 1470162)     Exons: 12     NC_000001.11

Protein Summary

• Protein general information: Q5T2N8  
  • Name: ATPase family AAA domain containing protein 3C
  • Length: 411  
  • Mass: 46380
• Sequence:

  MSKDALNLAQMQEQTLQLEQQSKLKQLVNEDLRKQEESVQKHHQTFLESIRAAGTLFGEGFRAFVTDRDKVTATV
  AGLTLLAVGVYSAKNATAVTGRYIEARLGKPSLVRETSRITVLEALRHPIQQVSRRLLSRPQDVLEGVVLSPSLE
  ARVRDIAIMTRNIKKNRGLYRHILLYGPPGTGKTLFAKKLALHSGMDYAIMTGGDVAPMGREGVTAMHKLFDWAN
  TSRRGLLLFVDEADAFLRKRATEKISEDLRATLNAFLYRTGQHSNKFMLILASCHPEQFDWAINACIDVMVHFDL
  PGQEERARLVRMYLNEYVLKPATEGKRRLKLAQFDYGRKCLEIARLTEGMSCRKIAQLAVSWQATAYASKDGVLT
  EAMMDACVQDFVQQHQQMMRWLKGERPGPEDEQPSS

• Structural information:
  • Interpro: IPR003593  IPR039188  IPR003959  IPR021911  IPR027417  
  • STRING: ENSP00000368062
• Other Databases: GeneCards:  ATAD3C  Malacards:  ATAD3C

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0007005	mitochondrion organization	IBA	biological process
GO:0008270	zinc ion binding	IBA	molecular function
GO:0005739	mitochondrion	IBA	cellular component
GO:0007005	mitochondrion organization	IEA	biological process
GO:0005524	ATP binding	IEA	molecular function
GO:0005739	mitochondrion	IEA	cellular component
GO:0005524	ATP binding	IEA	molecular function
GO:0000166	nucleotide binding	IEA	molecular function
GO:0005739	mitochondrion	IDA	cellular component

Diseases

Associated diseases	References
Cryptorchidism	MIK: 28606200

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq