• Gene id: 83858

Gene Summary

• Gene Symbol: ATAD3B   Gene   UCSC   Ensembl
• Aliases: AAA-TOB3, TOB3
• Gene name: ATPase family AAA domain containing 3B
• Alternate names: ATPase family AAA domain-containing protein 3B, AAA-ATPase TOB3,
• Gene location: 1p36.33 (1471731: 1509465)     Exons: 18     NC_000001.11
• Gene summary(Entrez): The protein encoded by this gene is localized to the mitochondrial inner membrane, where it can bind to a highly-related protein, ATAD3A. ATAD3A appears to interact with matrix nucleoid complexes, and the encoded protein negatively regulates that interact
• OMIM: 612317

Protein Summary

• Protein general information: Q5T9A4  
  • Name: ATPase family AAA domain containing protein 3B (AAA TOB3)
  • Length: 648  
  • Mass: 72573
  • Tissue specificity: Tends to be down-regulated in differentiated cells and re-expressed in pluripotent stem cells or cancer cells (at protein level). {ECO
• Sequence:

  MSWLFGVNKGPKGEGAGPPPPLPPAQPGAEGGGDRGLGDRPAPKDKWSNFDPTGLERAAKAARELEHSRYAKEAL
  NLAQMQEQTLQLEQQSKLKEYEAAVEQLKSEQIRAQAEERRKTLSEETRQHQARAQYQDKLARQRYEDQLKQQQL
  LNEENLRKQEESVQKQEAMRRATVEREMELRHKNEMLRVETEARARAKAERENADIIREQIRLKASEHRQTVLES
  IRTAGTLFGEGFRAFVTDRDKVTATVAGLTLLAVGVYSAKNATAVTGRFIEARLGKPSLVRETSRITVLEALRHP
  IQVSRRLLSRPQDVLEGVVLSPSLEARVRDIAIATRNTKKNRGLYRHILLYGPPGTGKTLFAKKLALHSGMDYAI
  MTGGDVAPMGREGVTAMHKLFDWANTSRRGLLLFMDEADAFLRKRATEEISKDLRATLNAFLYHMGQHSNKFMLV
  LASNLPEQFDCAINSRIDVMVHFDLPQQEERERLVRLHFDNCVLKPATEGKRRLKLAQFDYGRKCSEVARLTEGM
  SGREIAQLAVSWQATAYASKDGVLTEAMMDACVQDAVQQYRQKMRWLKAEGPGRGVEHPLSGVQGETLTSWSLAT
  DPSYPCLAGPCTFRICSWMGTGLCPGPLSPRMSCGGGRPFCPPGHPLL

• Structural information:
  • Interpro: IPR003593  IPR039188  IPR003959  IPR021911  IPR027417  
  • STRING: ENSP00000311766
• Other Databases: GeneCards:  ATAD3B  Malacards:  ATAD3B

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:0005739	mitochondrion	IEA	cellular component
GO:0005743	mitochondrial inner membrane	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0005524	ATP binding	IEA	molecular function
GO:0000166	nucleotide binding	IEA	molecular function
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0030667	secretory granule membrane	TAS	cellular component
GO:0043312	neutrophil degranulation	TAS	biological process
GO:0101003	ficolin-1-rich granule membrane	TAS	cellular component
GO:0005743	mitochondrial inner membrane	IEA	cellular component
GO:0005739	mitochondrion	IDA	cellular component

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
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)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq