ATAD3B ATPase family AAA domain containing 3B [Homo sapiens (human)] - Gene

Summary

Official Symbol: ATAD3Bprovided by HGNC
Official Full Name: ATPase family AAA domain containing 3Bprovided by HGNC
Primary source: HGNC:HGNC:24007
See related: Ensembl:ENSG00000160072 MIM:612317; AllianceGenome:HGNC:24007
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: TOB3; AAA-TOB3
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 interaction. This gene is expressed almost exclusively in pluripotent embryonic stem cells and some cancer cells. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2015]
Expression: Ubiquitous expression in bone marrow (RPKM 7.4), testis (RPKM 6.3) and 25 other tissues See more
Orthologs: all
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Genomic context

Location:: 1p36.33

Exon count:: 19

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	1	NC_000001.11 (1471765..1509466)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	1	NC_060925.1 (906136..943970)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	1	NC_000001.10 (1407145..1433228)

Chromosome 1 - NC_000001.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Circ_ATAD3B inhibits cell proliferation of breast cancer via mediating the miR-570-3p/MX2 axis.
Title: Circ_ATAD3B inhibits cell proliferation of breast cancer via mediating the miR-570-3p/MX2 axis.
ATAD3B and SKIL polymorphisms associated with antipsychotic-induced QTc interval change in patients with schizophrenia: a genome-wide association study.
Title: ATAD3B and SKIL polymorphisms associated with antipsychotic-induced QTc interval change in patients with schizophrenia: a genome-wide association study.
ATAD3B is a mitophagy receptor mediating clearance of oxidative stress-induced damaged mitochondrial DNA.
Title: ATAD3B is a mitophagy receptor mediating clearance of oxidative stress-induced damaged mitochondrial DNA.
AAA-TOB3 was highly expressed in lung adenocarcinoma, and the up-regulation of AAA-TOB3 correlated with lymph node metastasis and advanced stage of lung adenocarcinoma.
Title: Increased AAA-TOB3 correlates with lymph node metastasis and advanced stage of lung adenocarcinoma.
ATAD3B region deletions cause cerebellar dysfunction associated with altered mitochondrial DNA and cholesterol metabolism.
Title: ATAD3 gene cluster deletions cause cerebellar dysfunction associated with altered mitochondrial DNA and cholesterol metabolism.
exploring ATAD3 mRNA expression, we confirmed the existence of an alternative splicing in rodent and of several mRNA isoforms in human
Title: Expression analysis of ATAD3 isoforms in rodent and human cell lines and tissues.
results indicated the ATAD3B gene, which does not have ERalpha binding site within 20 kb of its TSS, to be significantly associated with poor patient survival.
Title: Integrative analysis of deep sequencing data identifies estrogen receptor early response genes and links ATAD3B to poor survival in breast cancer.
ATAD3B is a negative regulator of ATAD3A and may function as an adaptor of mitochondrial homeostasis and metabolism in human pluripotent embryonic stem cells and cancer cells.
Title: ATAD3B is a human embryonic stem cell specific mitochondrial protein, re-expressed in cancer cells, that functions as dominant negative for the ubiquitous ATAD3A.
ATAD3 may therefore be implicated in an unknown but essential and growth-linked mitochondrial function existing since pluri-cellular -organization and involved in tumorigenesis.
Title: [ATAD3, a vital membrane-bound mitochondrial ATPase involved in tumor progression].
Observational study of gene-disease association. (HuGE Navigator)
Title: Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.

Submit: New GeneRIF Correction See all GeneRIFs (12)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

HIV-1 interactions

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Protein interactions

Protein	Gene	Interaction	Pubs
Vpu	vpu	HIV-1 Vpu is identified to have a physical interaction with ATPase family, AAA domain containing 3B (ATAD3B) in human HEK293 and/or Jurkat cell lines by using affinity tagging and purification mass spectrometry analyses	PubMed

Go to the HIV-1, Human Interaction Database

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

D8S2279 (e-PCR)
- UniSTS:473907

D1S1425 (e-PCR)
- UniSTS:149621

G35510 (e-PCR)
- UniSTS:44150

D11S3114 (e-PCR)
- UniSTS:152207

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables ATP binding	IEA Inferred from Electronic Annotation more info
enables ATP hydrolysis activity	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
involved_in mitochondrion organization	IBA Inferred from Biological aspect of Ancestor more info

Component	Evidence Code	Pubs
located_in ficolin-1-rich granule membrane	TAS Traceable Author Statement more info
located_in mitochondrial inner membrane	IEA Inferred from Electronic Annotation more info
is_active_in mitochondrion	IBA Inferred from Biological aspect of Ancestor more info
located_in mitochondrion	IDA Inferred from Direct Assay more info
located_in plasma membrane	TAS Traceable Author Statement more info
located_in secretory granule membrane	TAS Traceable Author Statement more info

General protein information

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Preferred Names: ATPase family AAA domain-containing protein 3B

Names: AAA-ATPase TOB3

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

NM_001317238.2 → NP_001304167.1 ATPase family AAA domain-containing protein 3B isoform AAA-TOB3s precursor

Status: REVIEWED

Description

Transcript Variant: This variant (2) differs in the 5' UTR and coding sequence compared to variant 1. The resulting isoform (AAA-TOB3s) has a shorter and distinct N-terminus compared to isoform AAA-TOB3l.

Source sequence(s)

AL157945, AL645728, BC009938

UniProtKB/TrEMBL

Q96T67

Related

ENST00000472194.6

Conserved Domains (2) summary

pfam00004
Location:302 → 429

AAA; ATPase family associated with various cellular activities (AAA)

pfam12037
Location:49 → 240

DUF3523; Domain of unknown function (DUF3523)
NM_031921.6 → NP_114127.3 ATPase family AAA domain-containing protein 3B isoform AAA-TOB3l

See identical proteins and their annotated locations for NP_114127.3

Status: REVIEWED

Description

Transcript Variant: This variant (1) encodes the longer isoform (AAA-TOB3l).

Source sequence(s)

AK290586, AL645728, BC009938

Consensus CDS

CCDS30.1

UniProtKB/Swiss-Prot

A8K3H1, Q5T9A4, Q6ZRB5, Q9BUK4, Q9ULE7

UniProtKB/TrEMBL

Q96T67

Related

ENSP00000500094.1, ENST00000673477.1

Conserved Domains (5) summary

TIGR01242
Location:198 → 556

26Sp45; 26S proteasome subunit P45 family

pfam00004
Location:348 → 475

AAA; ATPase family associated with various cellular activities (AAA)

pfam12037
Location:42 → 286

DUF3523; Domain of unknown function (DUF3523)

cd16269
Location:151 → 162

GBP_C; coiled coil [structural motif]

cl20817
Location:94 → 179

GBP_C; Guanylate-binding protein, C-terminal domain

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000001.11 Reference GRCh38.p14 Primary Assembly

Range

1471765..1509466

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_005244806.4 → XP_005244863.1 ATPase family AAA domain-containing protein 3B isoform X1

UniProtKB/TrEMBL

Q96T67

Conserved Domains (3) summary

TIGR01242
Location:198 → 564

26Sp45; 26S proteasome subunit P45 family

pfam00004
Location:348 → 475

AAA; ATPase family associated with various cellular activities (AAA)

pfam12037
Location:42 → 286

DUF3523; Domain of unknown function (DUF3523)
XM_011542244.2 → XP_011540546.1 ATPase family AAA domain-containing protein 3B isoform X6

UniProtKB/TrEMBL

Q96T67

Conserved Domains (5) summary

TIGR01242
Location:246 → 604

26Sp45; 26S proteasome subunit P45 family

pfam00004
Location:396 → 523

AAA; ATPase family associated with various cellular activities (AAA)

pfam12037
Location:42 → 334

DUF3523; Domain of unknown function (DUF3523)

cd16269
Location:199 → 210

GBP_C; coiled coil [structural motif]

cl20817
Location:142 → 227

GBP_C; Guanylate-binding protein, C-terminal domain
XM_047431596.1 → XP_047287552.1 ATPase family AAA domain-containing protein 3B isoform X4
XM_047431583.1 → XP_047287539.1 ATPase family AAA domain-containing protein 3B isoform X2
XM_047431588.1 → XP_047287544.1 ATPase family AAA domain-containing protein 3B isoform X2
XM_011542241.4 → XP_011540543.1 ATPase family AAA domain-containing protein 3B isoform X2

See identical proteins and their annotated locations for XP_011540543.1

Conserved Domains (4) summary

pfam00004
Location:348 → 450

AAA; ATPase family associated with various cellular activities (AAA)

pfam12037
Location:42 → 286

DUF3523; Domain of unknown function (DUF3523)

cd16269
Location:151 → 162

GBP_C; coiled coil [structural motif]

cl20817
Location:94 → 179

GBP_C; Guanylate-binding protein, C-terminal domain
XM_047431599.1 → XP_047287555.1 ATPase family AAA domain-containing protein 3B isoform X5
XM_047431593.1 → XP_047287549.1 ATPase family AAA domain-containing protein 3B isoform X3

UniProtKB/TrEMBL

Q9H834

Alternate T2T-CHM13v2.0

Genomic

NC_060925.1 Alternate T2T-CHM13v2.0

Range

906136..943970

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_054338998.1 → XP_054194973.1 ATPase family AAA domain-containing protein 3B isoform X1
XM_054339005.1 → XP_054194980.1 ATPase family AAA domain-containing protein 3B isoform X6
XM_054339003.1 → XP_054194978.1 ATPase family AAA domain-containing protein 3B isoform X4
XM_054338999.1 → XP_054194974.1 ATPase family AAA domain-containing protein 3B isoform X2
XM_054339001.1 → XP_054194976.1 ATPase family AAA domain-containing protein 3B isoform X2
XM_054339000.1 → XP_054194975.1 ATPase family AAA domain-containing protein 3B isoform X2
XM_054339004.1 → XP_054194979.1 ATPase family AAA domain-containing protein 3B isoform X5
XM_054338997.1 → XP_054194972.1 ATPase family AAA domain-containing protein 3B isoform X7
XM_054339002.1 → XP_054194977.1 ATPase family AAA domain-containing protein 3B isoform X3

UniProtKB/TrEMBL

Q9H834