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Aliases for ATAD3A Gene

Aliases for ATAD3A Gene

  • ATPase Family, AAA Domain Containing 3A 2 3 5
  • ATPase Family AAA Domain-Containing Protein 3A 3
  • HAYOS 3

External Ids for ATAD3A Gene

Previous GeneCards Identifiers for ATAD3A Gene

  • GC01P001387
  • GC01P001532
  • GC01P001374
  • GC01P001439
  • GC01P000720
  • GC01P001447

Summaries for ATAD3A Gene

Entrez Gene Summary for ATAD3A Gene

  • ATAD3A and ATAD3B (MIM 612317) are mitochondrial membrane proteins that contribute to the stabilization of large mitochondrial DNA (mtDNA)-protein complexes called nucleoids (He et al., 2007 [PubMed 17210950]).[supplied by OMIM, Sep 2008]

GeneCards Summary for ATAD3A Gene

ATAD3A (ATPase Family, AAA Domain Containing 3A) is a Protein Coding gene. An important paralog of this gene is ATAD3B.

UniProtKB/Swiss-Prot for ATAD3A Gene

  • Essential for mitochondrial network organization, mitochondrial metabolism and cell growth at organism and cellular level. May play an important in mitochondrial protein synthesis. May also participate in mitochondrial DNA replication. May bind to mitochondrial DNA D-loops and contribute to nucleoid stability. Required for enhanced channeling of cholesterol for hormone-dependent steroidogenesis.

No data available for Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ATAD3A Gene

Genomics for ATAD3A Gene

Regulatory Elements for ATAD3A Gene

Enhancers for ATAD3A Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH01F001373 1.2 ENCODE 13.4 -137.0 -137020 3.9 MLX CREB3L1 ZFP64 YBX1 FEZF1 DMAP1 YY1 SLC30A9 ZNF143 ZNF263 ENSG00000230092 LOC100288379 CCNL2 ANKRD65 LINC01770 PUSL1 ENSG00000237094 LOC100129381 MIR6727 LOC100288069
GH01F001740 1 Ensembl ENCODE 13.4 +229.0 229024 1.1 GTF3C2 JUND JUN CEBPB FOS EP300 ENSG00000230092 NOC2L LOC100288379 CCNL2 ATAD3A PUSL1 TMEM52 MIR6727 PLEKHN1 CALML6
GH01F001888 1 Ensembl ENCODE 13.4 +380.9 380867 9.9 HDGF PKNOX1 CREB3L1 ARID4B SIN3A DMAP1 ZNF2 YY1 ZNF143 ZNF207 LOC105378949 CCNL2 LOC100288379 MIR6727 ENSG00000240731 PUSL1 LOC100129381 CALML6 NOC2L ATAD3A
GH01F000957 0.2 ENCODE 13.3 -552.4 -552399 4.1 HDGF PKNOX1 CREB3L1 ARID4B SIN3A ZNF2 YY1 ZNF143 SP3 SP5 NOC2L ENSG00000230092 LOC100288379 PLEKHN1 CCNL2 ATAD3A PUSL1 WASH7P MIR6727 ENSG00000237094
GH01F000998 0.7 ENCODE 13.3 -511.5 -511504 3.5 CREB3L1 MLX FEZF1 DMAP1 SLC30A9 ZNF143 ZNF263 SP3 NFYC MEF2D ENSG00000230092 WASH7P ENSG00000272512 LOC100288379 CCNL2 PLEKHN1 ENSG00000237094 MIR6727 LOC100288069 ENSG00000240731
- Elite enhancer/Elite enhancer-gene association Download Table
Download GeneHancer data dump

Enhancers around ATAD3A on UCSC Golden Path with GeneCards custom track

Promoters for ATAD3A Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000529017 257 2801 HDGF PKNOX1 ARNT CREB3L1 ARID4B SIN3A DMAP1 ZNF2 YY1 SLC30A9

Genomic Location for ATAD3A Gene

Chromosome:
1
Start:
1,512,143 bp from pter
End:
1,534,687 bp from pter
Size:
22,545 bases
Orientation:
Plus strand

Genomic View for ATAD3A Gene

Genes around ATAD3A on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ATAD3A Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ATAD3A Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ATAD3A Gene

Proteins for ATAD3A Gene

  • Protein details for ATAD3A Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9NVI7-ATD3A_HUMAN
    Recommended name:
    ATPase family AAA domain-containing protein 3A
    Protein Accession:
    Q9NVI7
    Secondary Accessions:
    • B3KPB3
    • D2K8Q1
    • G3V1I6
    • Q5SV23
    • Q8N275
    • Q96A50

    Protein attributes for ATAD3A Gene

    Size:
    634 amino acids
    Molecular mass:
    71369 Da
    Quaternary structure:
    • Can form homooligomers. Homodimer formation at the N-terminus may be regulated by ATP and is required for the interaction with the inner surface of the mitochondrial outer membrane and correct mitochondrial homeostasis. Interacts with components of the mitochondrial ribosome and with other proteins involved in mitochondrial RNA metabolism. May also interact with protein involved in lipid metabolism, including STARD9. May interact with FAM210A. Interacts with GADD45GIP1. Interacts with S100B in a Ca(+2)- and Zn(+2)-dependent manner; this interaction probably occurs in the cytosol prior to mitochondrial targeting. S100B could assist ATAD3A cytoplasmic processing, preventing aggregation and favoring mitochondrial localization. Interacts with HSP60/HSPD1. Forms heterooligomers with ATAD3B; this interaction may affect ATAD3A activity.

    Alternative splice isoforms for ATAD3A Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for ATAD3A Gene

Post-translational modifications for ATAD3A Gene

  • Ubiquitination at Lys 406 and Lys 621
  • Modification sites at PhosphoSitePlus

Other Protein References for ATAD3A Gene

Antibody Products

No data available for DME Specific Peptides for ATAD3A Gene

Domains & Families for ATAD3A Gene

Gene Families for ATAD3A Gene

Protein Domains for ATAD3A Gene

Graphical View of Domain Structure for InterPro Entry

Q9NVI7

UniProtKB/Swiss-Prot:

ATD3A_HUMAN :
  • The transmembrane domain and a C-terminal adjacent region contain all information necessary for mitochondrial targeting.
  • Belongs to the AAA ATPase family.
Domain:
  • The transmembrane domain and a C-terminal adjacent region contain all information necessary for mitochondrial targeting.
Family:
  • Belongs to the AAA ATPase family.
genes like me logo Genes that share domains with ATAD3A: view

Function for ATAD3A Gene

Molecular function for ATAD3A Gene

UniProtKB/Swiss-Prot Function:
Essential for mitochondrial network organization, mitochondrial metabolism and cell growth at organism and cellular level. May play an important in mitochondrial protein synthesis. May also participate in mitochondrial DNA replication. May bind to mitochondrial DNA D-loops and contribute to nucleoid stability. Required for enhanced channeling of cholesterol for hormone-dependent steroidogenesis.
UniProtKB/Swiss-Prot Induction:
Up-regulated by Angiotensin/AGT.

Gene Ontology (GO) - Molecular Function for ATAD3A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005524 ATP binding IEA --
genes like me logo Genes that share ontologies with ATAD3A: view
genes like me logo Genes that share phenotypes with ATAD3A: view

Animal Models for ATAD3A Gene

MGI Knock Outs for ATAD3A:

Animal Model Products

miRNA for ATAD3A Gene

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for ATAD3A Gene

Localization for ATAD3A Gene

Subcellular locations from UniProtKB/Swiss-Prot for ATAD3A Gene

Mitochondrion inner membrane; Single-pass membrane protein. Mitochondrion matrix, mitochondrion nucleoid. Note=In the mitochondrial inner membrane, enriched in sites with the potential to form contacts with the outer membrane. The N-terminal domain interacts with the inner surface of the mitochondrial outer membrane and the C-terminal domain localizes in a specific matrix compartment, where it is associated with nucleoids.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for ATAD3A Gene COMPARTMENTS Subcellular localization image for ATAD3A gene
Compartment Confidence
mitochondrion 5
cytosol 2
nucleus 2
endoplasmic reticulum 1
extracellular 1
golgi apparatus 1

Gene Ontology (GO) - Cellular Components for ATAD3A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005739 mitochondrion IEA,IDA 20332122
GO:0005743 mitochondrial inner membrane IEA --
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
GO:0042645 mitochondrial nucleoid IEA --
genes like me logo Genes that share ontologies with ATAD3A: view

Pathways & Interactions for ATAD3A Gene

SuperPathways for ATAD3A Gene

No Data Available

Gene Ontology (GO) - Biological Process for ATAD3A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0016049 cell growth IMP 20332122
GO:0043066 negative regulation of apoptotic process IMP 20332122
genes like me logo Genes that share ontologies with ATAD3A: view

No data available for Pathways by source and SIGNOR curated interactions for ATAD3A Gene

Transcripts for ATAD3A Gene

Unigene Clusters for ATAD3A Gene

ATPase family, AAA domain containing 3A:
Representative Sequences:

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for ATAD3A Gene

No ASD Table

Relevant External Links for ATAD3A Gene

GeneLoc Exon Structure for
ATAD3A
ECgene alternative splicing isoforms for
ATAD3A

Expression for ATAD3A Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for ATAD3A Gene

Protein differential expression in normal tissues from HIPED for ATAD3A Gene

This gene is overexpressed in Nasal epithelium (21.6) and Bone (10.2).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for ATAD3A Gene



Protein tissue co-expression partners for ATAD3A Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of ATAD3A Gene:

ATAD3A

SOURCE GeneReport for Unigene cluster for ATAD3A Gene:

Hs.23413

mRNA Expression by UniProt/SwissProt for ATAD3A Gene:

Q9NVI7-ATD3A_HUMAN
Tissue specificity: Overexpressed in lung adenocarcinomas (at protein level).
genes like me logo Genes that share expression patterns with ATAD3A: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and mRNA differential expression in normal tissues for ATAD3A Gene

Orthologs for ATAD3A Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for ATAD3A Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia ATAD3B 34
  • 97.38 (n)
-- 35
  • 80 (a)
ManyToMany
dog
(Canis familiaris)
Mammalia ATAD3A 35
  • 91 (a)
OneToMany
ATAD3B 34
  • 86.61 (n)
cow
(Bos Taurus)
Mammalia ATAD3 35
  • 90 (a)
OneToMany
ATAD3A 34
  • 87.65 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia -- 35
  • 88 (a)
OneToMany
rat
(Rattus norvegicus)
Mammalia Atad3a 34
  • 84.39 (n)
mouse
(Mus musculus)
Mammalia Atad3a 34 16 35
  • 83.36 (n)
oppossum
(Monodelphis domestica)
Mammalia -- 35
  • 81 (a)
OneToMany
chicken
(Gallus gallus)
Aves -- 35
  • 80 (a)
OneToMany
ATAD3A 34
  • 77.03 (n)
lizard
(Anolis carolinensis)
Reptilia -- 35
  • 80 (a)
OneToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia atad3a 34
  • 71.79 (n)
Str.16479 34
African clawed frog
(Xenopus laevis)
Amphibia MGC68616 34
zebrafish
(Danio rerio)
Actinopterygii atad3b 34 35
  • 76.14 (n)
Dr.25732 34
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP001792 34
  • 67.05 (n)
fruit fly
(Drosophila melanogaster)
Insecta bor 34 35
  • 65.84 (n)
worm
(Caenorhabditis elegans)
Secernentea atad-3 34 35
  • 55.6 (n)
thale cress
(Arabidopsis thaliana)
eudicotyledons AT3G03060 34
  • 48.78 (n)
rice
(Oryza sativa)
Liliopsida Os02g0697600 34
  • 49.68 (n)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.6689 35
  • 65 (a)
OneToMany
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.5657 34
Species where no ortholog for ATAD3A was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • 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)
  • 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)
  • wheat (Triticum aestivum)

Evolution for ATAD3A Gene

ENSEMBL:
Gene Tree for ATAD3A (if available)
TreeFam:
Gene Tree for ATAD3A (if available)

Paralogs for ATAD3A Gene

Paralogs for ATAD3A Gene

(3) SIMAP similar genes for ATAD3A Gene using alignment to 3 proteins:

Pseudogenes.org Pseudogenes for ATAD3A Gene

genes like me logo Genes that share paralogs with ATAD3A: view

Variants for ATAD3A Gene

Sequence variations from dbSNP and Humsavar for ATAD3A Gene

SNP ID Clin Chr 01 pos Sequence Context AA Info Type
rs10159033 -- 1,518,285(+) gtacg(C/T)acccc intron-variant
rs10159041 -- 1,518,541(+) ACACA(C/T)ACGGG intron-variant
rs10159059 -- 1,518,892(+) AAGGC(A/T)TTTCT intron-variant
rs10465902 -- 1,525,201(+) CCTGG(C/T)GTCAC intron-variant
rs10465906 -- 1,525,202(+) CTGGT(A/G)TCACT intron-variant

Structural Variations from Database of Genomic Variants (DGV) for ATAD3A Gene

Variant ID Type Subtype PubMed ID
dgv2e212 CNV loss 25503493
esv2658581 CNV deletion 23128226
esv2758913 CNV gain+loss 17122850
esv3549676 CNV deletion 23714750
esv3585000 CNV loss 21293372
esv3585001 CNV loss 21293372
nsv1009541 CNV gain 25217958
nsv1011818 CNV gain 25217958
nsv10161 CNV gain+loss 18304495
nsv1074453 CNV deletion 25765185
nsv1136055 CNV deletion 24896259
nsv482157 CNV gain 20164927
nsv482937 CNV loss 15286789
nsv545000 CNV loss 21841781
nsv545010 CNV loss 21841781
nsv821920 CNV gain 20364138
nsv945744 CNV duplication 23825009
nsv950452 CNV deletion 24416366

Variation tolerance for ATAD3A Gene

Residual Variation Intolerance Score: 91.8% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 7.22; 81.04% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for ATAD3A Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
ATAD3A

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ATAD3A Gene

Disorders for ATAD3A Gene

Relevant External Links for ATAD3A

Genetic Association Database (GAD)
ATAD3A
Human Genome Epidemiology (HuGE) Navigator
ATAD3A
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
ATAD3A

No disorders were found for ATAD3A Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for ATAD3A Gene

Publications for ATAD3A Gene

  1. 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 64
  2. The AAA+ ATPase ATAD3A controls mitochondrial dynamics at the interface of the inner and outer membranes. (PMID: 20154147) Gilquin B. … Baudier J. (Mol. Cell. Biol. 2010) 3 4 64
  3. ATPase family AAA domain-containing 3A is a novel anti-apoptotic factor in lung adenocarcinoma cells. (PMID: 20332122) Fang H.Y. … Chow K.C. (J. Cell Sci. 2010) 3 4 64
  4. Topological analysis of ATAD3A insertion in purified human mitochondria. (PMID: 20349121) Hubstenberger A. … Rousseau D. (J. Bioenerg. Biomembr. 2010) 3 4 64
  5. The calcium-dependent interaction between S100B and the mitochondrial AAA ATPase ATAD3A and the role of this complex in the cytoplasmic processing of ATAD3A. (PMID: 20351179) Gilquin B. … Baudier J. (Mol. Cell. Biol. 2010) 3 4 64

Products for ATAD3A Gene

Sources for ATAD3A Gene

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