ATAD3B (ATPase family AAA domain containing 3B)

Gene

• Entrez ID: 83858
• Gene name: ATPase family AAA domain containing 3B
• Gene symbol: ATAD3B
• Synonyms (NCBI Gene): AAA-TOB3, TOB3
• Chromosome: 1
• Chromosome location: 1p36.33
• Summary: 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

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT001652	hsa-let-7b-5p	pSILAC	18668040
MIRT001652	hsa-let-7b-5p	Proteomics;Other	18668040
MIRT803884	hsa-miR-1226	CLIP-seq
MIRT803885	hsa-miR-150	CLIP-seq
MIRT803886	hsa-miR-1915	CLIP-seq
MIRT803887	hsa-miR-24	CLIP-seq
MIRT803888	hsa-miR-3065-3p	CLIP-seq
MIRT803889	hsa-miR-3157-5p	CLIP-seq
MIRT803890	hsa-miR-3189-5p	CLIP-seq
MIRT803891	hsa-miR-329	CLIP-seq
MIRT803892	hsa-miR-3620	CLIP-seq
MIRT803893	hsa-miR-362-3p	CLIP-seq
MIRT803894	hsa-miR-4267	CLIP-seq
MIRT803895	hsa-miR-4283	CLIP-seq
MIRT803896	hsa-miR-4437	CLIP-seq
MIRT803897	hsa-miR-4677-3p	CLIP-seq
MIRT803898	hsa-miR-4691-3p	CLIP-seq
MIRT803899	hsa-miR-4713-5p	CLIP-seq
MIRT803900	hsa-miR-4758-3p	CLIP-seq
MIRT803901	hsa-miR-516a-5p	CLIP-seq
MIRT803902	hsa-miR-532-3p	CLIP-seq
MIRT803903	hsa-miR-766	CLIP-seq
MIRT803884	hsa-miR-1226	CLIP-seq
MIRT803891	hsa-miR-329	CLIP-seq
MIRT803893	hsa-miR-362-3p	CLIP-seq
MIRT803894	hsa-miR-4267	CLIP-seq
MIRT2177049	hsa-miR-4438	CLIP-seq
MIRT2177050	hsa-miR-4535	CLIP-seq
MIRT803898	hsa-miR-4691-3p	CLIP-seq
MIRT2177051	hsa-miR-4776-5p	CLIP-seq
MIRT803903	hsa-miR-766	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000166	Function	Nucleotide binding	IEA
GO:0005524	Function	ATP binding	IEA
GO:0005739	Component	Mitochondrion	HTP	34800366
GO:0005739	Component	Mitochondrion	IBA
GO:0005739	Component	Mitochondrion	IDA
GO:0005739	Component	Mitochondrion	IEA
GO:0005743	Component	Mitochondrial inner membrane	IEA
GO:0005886	Component	Plasma membrane	TAS
GO:0007005	Process	Mitochondrion organization	IBA
GO:0016020	Component	Membrane	IEA
GO:0016887	Function	ATP hydrolysis activity	IEA
GO:0030667	Component	Secretory granule membrane	TAS
GO:0101003	Component	Ficolin-1-rich granule membrane	TAS

Other IDs

• MIM: 612317
• HGNC: 24007
• e!Ensembl: ENSG00000160072

Protein

• UniProt ID: Q5T9A4
• Protein name: ATPase family AAA domain-containing protein 3B (AAA-TOB3)
• Protein function: May play a role in a mitochondrial network organization typical for stem cells, characterized by reduced mitochondrial metabolism, low mtDNA copies and fragmentated mitochondrial network. May act by suppressing ATAD3A function, interfering with
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF12037	DUF3523	29 → 286	Domain of unknown function (DUF3523)	Family
  PF00004	AAA	348 → 475	ATPase family associated with various cellular activities (AAA)	Domain

• Tissue specificity: TISSUE SPECIFICITY: Tends to be down-regulated in differentiated cells and re-expressed in pluripotent stem cells or cancer cells (at protein level). {ECO:0000269|PubMed:16909202, ECO:0000269|PubMed:22664726}.
• Sequence:

  MSWLFGVNKGPKGEGAGPPPPLPPAQPGAEGGGDRGLGDRPAPKDKWSNFDPTGLERAAK
  AARELEHSRYAKEALNLAQMQEQTLQLEQQSKLKEYEAAVEQLKSEQIRAQAEERRKTLS
  EETRQHQARAQYQDKLARQRYEDQLKQQQLLNEENLRKQEESVQKQEAMRRATVEREMEL
  RHKNEMLRVETEARARAKAERENADIIREQIRLKASEHRQTVLESIRTAGTLFGEGFRAF
  VTDRDKVTATVAGLTLLAVGVYSAKNATAVTGRFIEARLGKPSLVRETSRITVLEALRHP
  IQVSRRLLSRPQDVLEGVVLSPSLEARVRDIAIATRNTKKNRGLYRHILLYGPPGTGKTL
  FAKKLALHSGMDYAIMTGGDVAPMGREGVTAMHKLFDWANTSRRGLLLFMDEADAFLRKR
  ATEEISKDLRATLNAFLYHMGQHSNKFMLVLASNLPEQFDCAINSRIDVMVHFDLPQQEE
  RERLVRLHFDNCVLKPATEGKRRLKLAQFDYGRKCSEVARLTEGMSGREIAQLAVSWQAT
  AYASKDGVLTEAMMDACVQDAVQQYRQKMRWLKAEGPGRGVEHPLSGVQGETLTSWSLAT
  DPSYPCLAGPCTFRICSWMGTGLCPGPLSPRMSCGGGRPFCPPGHPLL

• Sequence length: 648

Pathways

Reactome:

Neutrophil degranulation

Associated diseases

Evidence Score:

• ★☆☆☆☆  Gene-disease association found in Text Mining only
• ★★☆☆☆  Found in Text Mining and Unknown/Other Associations
• ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources
• ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
• ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
1P36.33 DUPLICATION SYNDROME	—	Disgenet, Orphanet Disgenet, Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ALZHEIMER DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Chronic lymphocytic leukemia/small lymphocytic lymphoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian cancer	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Relationship Type	References	Evidence Score
Adenocarcinoma of Lung	Stimulate	28623644	★☆☆☆☆ Found in Text Mining only
Amyotrophic lateral sclerosis 1	Associate	35853630	★☆☆☆☆ Found in Text Mining only
Ataxia	Associate	28549128	★☆☆☆☆ Found in Text Mining only
Brain Diseases	Associate	28549128	★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Associate	23818839	★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Inhibit	37286092	★☆☆☆☆ Found in Text Mining only
Cerebellar Diseases	Associate	28549128	★☆☆☆☆ Found in Text Mining only
Dystonia	Associate	28549128	★☆☆☆☆ Found in Text Mining only
Head and Neck Neoplasms	Associate	15141305	★☆☆☆☆ Found in Text Mining only
Head and Neck Neoplasms	Stimulate	16909202	★☆☆☆☆ Found in Text Mining only
Long QT Syndrome	Associate	35136033	★☆☆☆☆ Found in Text Mining only
Lymphatic Metastasis	Stimulate	28623644	★☆☆☆☆ Found in Text Mining only
Neoplasms	Associate	15141305, 16909202, 28765560	★☆☆☆☆ Found in Text Mining only
Neoplasms	Inhibit	37286092	★☆☆☆☆ Found in Text Mining only
Pontocerebellar Hypoplasia	Associate	28549128	★☆☆☆☆ Found in Text Mining only
Schizophrenia	Associate	35136033	★☆☆☆☆ Found in Text Mining only