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 vari... See more...

Aliases for ATAD3B Gene

Aliases for ATAD3B Gene

  • ATPase Family AAA Domain Containing 3B 2 3 5
  • ATPase Family AAA Domain-Containing Protein 3B 3 4
  • AAA-TOB3 3 4
  • TOB3 3 4
  • AAA-ATPase TOB3 3
  • KIAA1273 4

External Ids for ATAD3B Gene

Previous GeneCards Identifiers for ATAD3B Gene

  • GC01P001359
  • GC01P001493
  • GC01P001397
  • GC01P000680

Summaries for ATAD3B Gene

Entrez Gene Summary for ATAD3B Gene

  • 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]

GeneCards Summary for ATAD3B Gene

ATAD3B (ATPase Family AAA Domain Containing 3B) is a Protein Coding gene. Diseases associated with ATAD3B include Branchiootic Syndrome. Among its related pathways are Innate Immune System. An important paralog of this gene is ATAD3A.

UniProtKB/Swiss-Prot Summary for ATAD3B Gene

  • 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 ATAD3A interaction with matrix nucleoid complexes.

Additional gene information for ATAD3B Gene

No data available for CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for ATAD3B Gene

Genomics for ATAD3B Gene

GeneHancer (GH) Regulatory Elements for ATAD3B Gene

Promoters and enhancers for ATAD3B Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around ATAD3B on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the ATAD3B gene promoter:
  • Lmo2
  • Oct-B1
  • oct-B2
  • oct-B3
  • POU2F1
  • POU2F1a
  • POU2F2
  • POU2F2 (Oct-2.1)
  • POU2F2B
  • POU2F2C

Genomic Locations for ATAD3B Gene

Genomic Locations for ATAD3B Gene
chr1:1,471,732-1,509,479
(GRCh38/hg38)
Size:
37,748 bases
Orientation:
Plus strand
chr1:1,407,143-1,433,228
(GRCh37/hg19)
Size:
26,086 bases
Orientation:
Plus strand

Genomic View for ATAD3B Gene

Genes around ATAD3B on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ATAD3B Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ATAD3B Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ATAD3B Gene

Proteins for ATAD3B Gene

  • Protein details for ATAD3B Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q5T9A4-ATD3B_HUMAN
    Recommended name:
    ATPase family AAA domain-containing protein 3B
    Protein Accession:
    Q5T9A4
    Secondary Accessions:
    • A8K3H1
    • Q6ZRB5
    • Q9BUK4
    • Q9ULE7

    Protein attributes for ATAD3B Gene

    Size:
    648 amino acids
    Molecular mass:
    72573 Da
    Quaternary structure:
    • Forms heterooligomers with ATAD3A. Interacts with components of the mitochondrial ribosome, including MRPL11 and MRPS18B, and with other proteins involved in mitochondrial RNA metabolism, possibly via interaction with ATAD3A. Interacts with GADD45GIP1.
    SequenceCaution:
    • Sequence=BAA86587.1; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305};

    Alternative splice isoforms for ATAD3B Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for ATAD3B Gene

Post-translational modifications for ATAD3B Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for ATAD3B Gene

No data available for DME Specific Peptides for ATAD3B Gene

Domains & Families for ATAD3B Gene

Gene Families for ATAD3B Gene

HGNC:
Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for ATAD3B Gene

Suggested Antigen Peptide Sequences for ATAD3B Gene

GenScript: Design optimal peptide antigens:
  • ATPase family AAA domain-containing protein 3B (ATD3B_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q5T9A4

UniProtKB/Swiss-Prot:

ATD3B_HUMAN :
  • Belongs to the AAA ATPase family.
Family:
  • Belongs to the AAA ATPase family.
genes like me logo Genes that share domains with ATAD3B: view

Function for ATAD3B Gene

Molecular function for ATAD3B Gene

UniProtKB/Swiss-Prot 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 ATAD3A interaction with matrix nucleoid complexes.
UniProtKB/Swiss-Prot Induction:
Up-regulated by MYC.

Phenotypes From GWAS Catalog for ATAD3B Gene

Gene Ontology (GO) - Molecular Function for ATAD3B Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005524 ATP binding IEA --
GO:0008270 zinc ion binding IBA 21873635
genes like me logo Genes that share ontologies with ATAD3B: view
genes like me logo Genes that share phenotypes with ATAD3B: view

Animal Model Products

CRISPR Products

miRNA for ATAD3B Gene

miRTarBase miRNAs that target ATAD3B

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ATAD3B

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for ATAD3B Gene

Localization for ATAD3B Gene

Subcellular locations from UniProtKB/Swiss-Prot for ATAD3B Gene

Mitochondrion inner membrane; Peripheral membrane protein. Note=Has been found to co-purify with nucleoids (PubMed:22453275). Since it does not face the mitochondrial matrix, the association with nucleoids could be mediated by ATAD3A. {ECO:0000269 PubMed:22453275}.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for ATAD3B gene
Compartment Confidence
plasma membrane 4
mitochondrion 4
nucleus 1
endoplasmic reticulum 1
cytosol 1
golgi apparatus 1
extracellular 0

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for ATAD3B Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005739 mitochondrion IDA,IBA --
GO:0005743 mitochondrial inner membrane IEA --
GO:0005886 plasma membrane TAS --
GO:0016020 membrane IEA --
GO:0030667 secretory granule membrane TAS --
genes like me logo Genes that share ontologies with ATAD3B: view

Pathways & Interactions for ATAD3B Gene

PathCards logo

SuperPathways for ATAD3B Gene

genes like me logo Genes that share pathways with ATAD3B: view

Pathways by source for ATAD3B Gene

3 Reactome pathways for ATAD3B Gene

Gene Ontology (GO) - Biological Process for ATAD3B Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007005 mitochondrion organization IBA 21873635
GO:0043312 neutrophil degranulation TAS --
genes like me logo Genes that share ontologies with ATAD3B: view

No data available for SIGNOR curated interactions for ATAD3B Gene

Drugs & Compounds for ATAD3B Gene

No Compound Related Data Available

Transcripts for ATAD3B Gene

mRNA/cDNA for ATAD3B Gene

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ATAD3B

Alternative Splicing Database (ASD) splice patterns (SP) for ATAD3B Gene

No ASD Table

Relevant External Links for ATAD3B Gene

GeneLoc Exon Structure for
ATAD3B
ECgene alternative splicing isoforms for
ATAD3B

Expression for ATAD3B Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for ATAD3B Gene

Protein differential expression in normal tissues from HIPED for ATAD3B Gene

This gene is overexpressed in Breast (17.4), Pancreas (11.7), Brain (11.5), Peripheral blood mononuclear cells (11.1), and Bone (10.3).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for ATAD3B Gene



NURSA nuclear receptor signaling pathways regulating expression of ATAD3B Gene:

ATAD3B

SOURCE GeneReport for Unigene cluster for ATAD3B Gene:

Hs.729021

mRNA Expression by UniProt/SwissProt for ATAD3B Gene:

Q5T9A4-ATD3B_HUMAN
Tissue specificity: Tends to be down-regulated in differentiated cells and re-expressed in pluripotent stem cells or cancer cells (at protein level).

Evidence on tissue expression from TISSUES for ATAD3B Gene

  • Nervous system(4.5)
genes like me logo Genes that share expression patterns with ATAD3B: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , Protein tissue co-expression partners and Phenotype-based relationships between genes and organs from Gene ORGANizer for ATAD3B Gene

Orthologs for ATAD3B Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for ATAD3B Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia ATAD3B 33
  • 95 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Atad3a 33
  • 87 (a)
OneToMany
cow
(Bos Taurus)
Mammalia ATAD3 33
  • 87 (a)
OneToMany
dog
(Canis familiaris)
Mammalia ATAD3A 33
  • 87 (a)
OneToMany
platypus
(Ornithorhynchus anatinus)
Mammalia -- 33
  • 86 (a)
OneToMany
oppossum
(Monodelphis domestica)
Mammalia -- 33
  • 79 (a)
OneToMany
chicken
(Gallus gallus)
Aves -- 33
  • 77 (a)
OneToMany
lizard
(Anolis carolinensis)
Reptilia -- 33
  • 75 (a)
OneToMany
zebrafish
(Danio rerio)
Actinopterygii atad3b 33
  • 81 (a)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta bor 33
  • 58 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea atad-3 33
  • 54 (a)
OneToMany
thale cress
(Arabidopsis thaliana)
eudicotyledons AT2G18330 32
  • 47.47 (n)
rice
(Oryza sativa)
Liliopsida Os02g0706500 32
  • 47.45 (n)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.6689 33
  • 63 (a)
OneToMany
Species where no ortholog for ATAD3B was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rat (Rattus norvegicus)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)

Evolution for ATAD3B Gene

ENSEMBL:
Gene Tree for ATAD3B (if available)
TreeFam:
Gene Tree for ATAD3B (if available)
Aminode:
Evolutionary constrained regions (ECRs) for ATAD3B: view image

Paralogs for ATAD3B Gene

Paralogs for ATAD3B Gene

(3) SIMAP similar genes for ATAD3B Gene using alignment to 2 proteins:

  • ATD3B_HUMAN
  • A6NFL3_HUMAN
genes like me logo Genes that share paralogs with ATAD3B: view

Variants for ATAD3B Gene

Sequence variations from dbSNP and Humsavar for ATAD3B Gene

SNP ID Clin Chr 01 pos Variation AA Info Type
rs1000000509 -- 1,478,185(+) A/T 5_prime_UTR_variant, intron_variant, non_coding_transcript_variant
rs1000060324 -- 1,484,097(+) A/C intron_variant
rs1000185539 -- 1,492,755(+) T/G genic_downstream_transcript_variant, intron_variant
rs1000195426 -- 1,492,903(+) C/T genic_downstream_transcript_variant, intron_variant
rs1000305309 -- 1,489,526(+) A/C intron_variant, non_coding_transcript_variant

Structural Variations from Database of Genomic Variants (DGV) for ATAD3B Gene

Variant ID Type Subtype PubMed ID
dgv1e212 CNV loss 25503493
dgv1e214 CNV loss 21293372
dgv2e212 CNV loss 25503493
dgv34n54 CNV loss 21841781
esv1254392 CNV insertion 17803354
esv25832 CNV loss 19812545
esv2661503 CNV deletion 23128226
esv2662001 CNV deletion 23128226
esv2758913 CNV gain+loss 17122850
esv3548565 CNV deletion 23714750
esv3577672 CNV loss 25503493
esv3577678 CNV loss 25503493
esv3584995 CNV loss 21293372
esv3584998 CNV gain 21293372
esv3584999 CNV loss 21293372
esv3585000 CNV loss 21293372
nsv1009541 CNV gain 25217958
nsv1011818 CNV gain 25217958
nsv10161 CNV gain+loss 18304495
nsv1119396 CNV insertion 24896259
nsv1133122 CNV tandem duplication 24896259
nsv1136055 CNV deletion 24896259
nsv482146 CNV gain 20164927
nsv482937 CNV loss 15286789
nsv545000 CNV loss 21841781
nsv545001 CNV loss 21841781
nsv545010 CNV loss 21841781
nsv945743 CNV duplication 23825009
nsv950452 CNV deletion 24416366

Variation tolerance for ATAD3B Gene

Residual Variation Intolerance Score: 99.1% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 16.40; 97.71% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for ATAD3B Gene

Human Gene Mutation Database (HGMD)
ATAD3B
SNPedia medical, phenotypic, and genealogical associations of SNPs for
ATAD3B

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ATAD3B Gene

Disorders for ATAD3B Gene

MalaCards: The human disease database

(1) MalaCards diseases for ATAD3B Gene - From: HGMD and DISEASES

Disorder Aliases PubMed IDs
branchiootic syndrome
  • branchiootic syndrome 1
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for ATAD3B

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with ATAD3B: view

No data available for UniProtKB/Swiss-Prot and Genatlas for ATAD3B Gene

Publications for ATAD3B Gene

  1. Prediction of the coding sequences of unidentified human genes. XV. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro. (PMID: 10574462) Nagase T … Ohara O (DNA research : an international journal for rapid publication of reports on genes and genomes 1999) 2 3 4 56
  2. ATAD3B is a human embryonic stem cell specific mitochondrial protein, re-expressed in cancer cells, that functions as dominant negative for the ubiquitous ATAD3A. (PMID: 22664726) Merle N … Baudier J (Mitochondrion 2012) 3 4 56
  3. Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression. (PMID: 20877624) Hendrickson SL … O'Brien SJ (PloS one 2010) 3 43 56
  4. The DNA sequence and biological annotation of human chromosome 1. (PMID: 16710414) Gregory SG … Prigmore E (Nature 2006) 3 4 56
  5. Molecular characterization of the tumor-associated antigen AAA-TOB3. (PMID: 16909202) Schaffrik M … Gires O (Cellular and molecular life sciences : CMLS 2006) 3 4 56

Products for ATAD3B Gene

Sources for ATAD3B Gene