• Gene id: 55210

Gene Summary

• Gene Symbol: ATAD3A   Gene   UCSC   Ensembl
• Aliases: HAYOS, PHRINL
• Gene name: ATPase family AAA domain containing 3A
• Alternate names: ATPase family AAA domain-containing protein 3A,
• Gene location: 1p36.33 (1512142: 1534686)     Exons: 18     NC_000001.11
• Gene summary(Entrez): This gene encodes a ubiquitously expressed mitochondrial membrane protein that contributes to mitochondrial dynamics, nucleoid organization, protein translation, cell growth, and cholesterol metabolism. This gene is a member of the ATPase family AAA-domai
• OMIM: 612316

Protein Summary

• Protein general information: Q9NVI7  
  • Name: ATPase family AAA domain containing protein 3A
  • Length: 634  
  • Mass: 71369
  • Tissue specificity: Overexpressed in lung adenocarcinomas (at protein level). {ECO
• Sequence:

  MSWLFGINKGPKGEGAGPPPPLPPAQPGAEGGGDRGLGDRPAPKDKWSNFDPTGLERAAKAARELEHSRYAKDAL
  NLAQMQEQTLQLEQQSKLKMRLEALSLLHTLVWAWSLCRAGAVQTQERLSGSASPEQVPAGECCALQEYEAAVEQ
  LKSEQIRAQAEERRKTLSEETRQHQARAQYQDKLARQRYEDQLKQQQLLNEENLRKQEESVQKQEAMRRATVERE
  MELRHKNEMLRVEAEARARAKAERENADIIREQIRLKAAEHRQTVLESIRTAGTLFGEGFRAFVTDWDKVTATVA
  GLTLLAVGVYSAKNATLVAGRFIEARLGKPSLVRETSRITVLEALRHPIQVSRRLLSRPQDALEGVVLSPSLEAR
  VRDIAIATRNTKKNRSLYRNILMYGPPGTGKTLFAKKLALHSGMDYAIMTGGDVAPMGREGVTAMHKLFDWANTS
  RRGLLLFVDEADAFLRKRATEKISEDLRATLNAFLYRTGQHSNKFMLVLASNQPEQFDWAINDRINEMVHFDLPG
  QEERERLVRMYFDKYVLKPATEGKQRLKLAQFDYGRKCSEVARLTEGMSGREIAQLAVSWQATAYASEDGVLTEA
  MMDTRVQDAVQQHQQKMCWLKAEGPGRGDEPSPS

• Structural information:
  • Interpro: IPR003593  IPR039188  IPR003959  IPR021911  IPR027417  
  • DIP: 33194
  • STRING: ENSP00000368030
• Other Databases: GeneCards:  ATAD3A  Malacards:  ATAD3A

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005739	mitochondrion	IBA	cellular component
GO:0008270	zinc ion binding	IBA	molecular function
GO:0007005	mitochondrion organization	IBA	biological process
GO:0005739	mitochondrion	IDA	cellular component
GO:0043066	negative regulation of apoptotic process	IMP	biological process
GO:0001558	regulation of cell growth	IMP	biological process
GO:0140374	antiviral innate immune response	IMP	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0007005	mitochondrion organization	IEA	biological process
GO:0005524	ATP binding	IEA	molecular function
GO:0005739	mitochondrion	IEA	cellular component
GO:0042645	mitochondrial nucleoid	IEA	cellular component
GO:0005743	mitochondrial inner membrane	IEA	cellular component
GO:0005524	ATP binding	IEA	molecular function
GO:0016021	integral component of membrane	IEA	cellular component
GO:0005739	mitochondrion	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0000166	nucleotide binding	IEA	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005739	mitochondrion	IEA	cellular component
GO:0042645	mitochondrial nucleoid	IEA	cellular component
GO:0005743	mitochondrial inner membrane	IEA	cellular component
GO:0005739	mitochondrion	IDA	cellular component

Diseases

Associated diseases	References
Cryptorchidism	MIK: 28606200
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)
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq