• Gene id: 79915

Gene Summary

• Gene Symbol: ATAD5   Gene   UCSC   Ensembl
• Aliases: C17orf41, ELG1, FRAG1
• Gene name: ATPase family AAA domain containing 5
• Alternate names: ATPase family AAA domain-containing protein 5, chromosome fragility associated gene 1, chromosome fragility-associated gene 1 protein, enhanced level of genomic instability 1 homolog,
• Gene location: 17q11.2 (30830829: 30895868)     Exons: 23     NC_000017.11
• OMIM: 609534

Protein Summary

• Protein general information: Q96QE3  
  • Name: ATPase family AAA domain containing protein 5 (Chromosome fragility associated gene 1 protein)
  • Length: 1844  
  • Mass: 207570
• Sequence:

  MVGVLAMAAAAAPPPVKDCEIEPCKKRKKDDDTSTCKTITKYLSPLGKTRDRVFAPPKPSNILDYFRKTSPTNEK
  TQLGKECKIKSPESVPVDSNKDCTTPLEMFSNVEFKKKRKRVNLSHQLNNIKTENEAPIEISSDDSKEDYSLNND
  FVESSTSVLRYKKQVEVLAENIQDTKSQPNTMTSLQNSKKVNPKQGTTKNDFKKLRKRKCRDVVDLSESLPLAEE
  LNLLKKDGKDTKQMENTTSHANSRDNVTEAAQLNDSIITVSYEEFLKSHKENKVEEIPDSTMSICVPSETVDEIV
  KSGYISESENSEISQQVRFKTVTVLAQVHPIPPKKTGKIPRIFLKQKQFEMENSLSDPENEQTVQKRKSNVVIQE
  EELELAVLEAGSSEAVKPKCTLEERQQFMKAFRQPASDALKNGVKKSSDKQKDLNEKCLYEVGRDDNSKKIMENS
  GIQMVSKNGNLQLHTDKGSFLKEKNKKLKKKNKKTLDTGAIPGKNREGNTQKKETTFFLKEKQYQNRMSLRQRKT
  EFFKSSTLFNNESLVYEDIANDDLLKVSSLCNNNKLSRKTSIPVKDIKLTQSKAESEASLLNVSTPKSTRRSGRI
  SSTPTTETIRGIDSDDVQDNSQLKASTQKAANLSEKHSLYTAELITVPFDSESPIRMKFTRISTPKKSKKKSNKR
  SEKSEATDGGFTSQIRKASNTSKNISKAKQLIEKAKALHISRSKVTEEIAIPLRRSSRHQTLPERKKLSETEDSV
  IIIDSSPTALKHPEKNQKKLQCLNDVLGKKLNTSTKNVPGKMKVAPLFLVRKAQKAADPVPSFDESSQDTSEKSQ
  DCDVQCKAKRDFLMSGLPDLLKRQIAKKAAALDVYNAVSTSFQRVVHVQQKDDGCCLWHLKPPSCPLLTKFKELN
  TKVIDLSKCGIALGEFSTLNSKLKSGNSAAVFMRTRKEFTEEVRNLLLEEIRWSNPEFSLKKYFPLLLKKQIEHQ
  VLSSECHSKQELEADVSHKETKRKLVEAENSKSKRKKPNEYSKNLEKTNRKSEELSKRNNSSGIKLDSSKDSGTE
  DMLWTEKYQPQTASELIGNELAIKKLHSWLKDWKRRAELEERQNLKGKRDEKHEDFSGGIDFKGSSDDEEESRLC
  NTVLITGPTGVGKTAAVYACAQELGFKIFEVNASSQRSGRQILSQLKEATQSHQVDKQGVNSQKPCFFNSYYIGK
  SPKKISSPKKVVTSPRKVPPPSPKSSGPKRALPPKTLANYFKVSPKPKNNEEIGMLLENNKGIKNSFEQKQITQT
  KSTNATNSNVKDVGAEEPSRKNATSLILFEEVDVIFDEDAGFLNAIKTFMATTKRPVILTTSDPTFSLMFDGCFE
  EIKFSTPSLLNVASYLQMICLTENFRTDVKDFVTLLTANTCDIRKSILYLQFWIRSGGGVLEERPLTLYRGNSRN
  VQLVCSEHGLDNKIYPKNTKKKRVDLPKCDSGCAETLFGLKNIFSPSEDLFSFLKHKITMKEEWHKFIQLLTEFQ
  MRNVDFLYSNLEFILPLPVDTIPETKNFCGPSVTVDASAATKSMNCLARKHSEREQPLKKSQKKKQKKTLVILDD
  SDLFDTDLDFPDQSISLSSVSSSSNAEESKTGDEESKARDKGNNPETKKSIPCPPKTTAGKKCSALVSHCLNSLS
  EFMDNMSFLDALLTDVREQNKYGRNDFSWTNGKVTSGLCDEFSLESNDGWTSQSSGELKAAAEALSFTKCSSAIS
  KALETLNSCKKLGRDPTNDLTFYVSQKRNNVYFSQSAANLDNAWKRISVIKSVFSSRSLLYVGNRQASIIEYLPT
  LRNICKTEKLKEQGKSKRRFLHYFEGIHLDIPKETVNTLAADFP

• Structural information:
  • Interpro: IPR003593  IPR003959  IPR027417  
  • DIP: 62118
  • STRING: ENSP00000313171
• Other Databases: GeneCards:  ATAD5  Malacards:  ATAD5

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0003677	DNA binding	IBA	molecular function
GO:0005634	nucleus	IBA	cellular component
GO:0061860	DNA clamp unloader activity	IBA	molecular function
GO:0005524	ATP binding	IEA	molecular function
GO:0006974	cellular response to DNA damage stimulus	IEA	biological process
GO:0000166	nucleotide binding	IEA	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0005524	ATP binding	IEA	molecular function
GO:1901990	regulation of mitotic cell cycle phase transition	IEA	biological process
GO:0042771	intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator	IEA	biological process
GO:0002377	immunoglobulin production	IEA	biological process
GO:1902230	negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage	IEA	biological process
GO:1902166	negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator	IEA	biological process
GO:0090305	nucleic acid phosphodiester bond hydrolysis	IEA	biological process
GO:0048304	positive regulation of isotype switching to IgG isotypes	IEA	biological process
GO:0045190	isotype switching	IEA	biological process
GO:0042770	signal transduction in response to DNA damage	IEA	biological process
GO:0042100	B cell proliferation	IEA	biological process
GO:0033260	nuclear DNA replication	IEA	biological process
GO:0030890	positive regulation of B cell proliferation	IEA	biological process
GO:0008630	intrinsic apoptotic signaling pathway in response to DNA damage	IEA	biological process
GO:0006974	cellular response to DNA damage stimulus	IEA	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0031391	Elg1 RFC-like complex	IDA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0061860	DNA clamp unloader activity	IMP	molecular function
GO:1902751	positive regulation of cell cycle G2/M phase transition	IMP	biological process
GO:0090618	DNA clamp unloading	IMP	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0045740	positive regulation of DNA replication	IMP	biological process

Diseases

Associated diseases	References
Neurilemmoma	PMID:20844836
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)
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 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