Free for academic non-profit institutions. Other users need a Commercial license

Aliases for ATAD3A Gene

Aliases for ATAD3A Gene

  • ATPase Family, AAA Domain Containing 3A 2 3 5

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 ATAD3C.

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 Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

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

ENSRs around ATAD3A on UCSC Golden Path with GeneCards custom track

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

Proteomics data for ATAD3A Gene at MOPED

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.
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

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , 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 IDA 20332122
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

None

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

Drugs & Compounds for ATAD3A Gene

No Compound Related Data Available

Transcripts for ATAD3A Gene

Unigene Clusters for ATAD3A Gene

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

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 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, MOPED, and MaxQB for ATAD3A Gene



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

Protein tissue co-expression partners for ATAD3A Gene

- Elite partner

Primer Products

In Situ Assay 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
cow
(Bos Taurus)
Mammalia ATAD3A 35
  • 87.65 (n)
  • 92.17 (a)
ATAD3 36
  • 90 (a)
OneToMany
dog
(Canis familiaris)
Mammalia ATAD3B 35
  • 86.61 (n)
  • 93.91 (a)
ATAD3A 36
  • 91 (a)
OneToMany
mouse
(Mus musculus)
Mammalia Atad3a 35
  • 83.36 (n)
  • 92.31 (a)
Atad3a 16
Atad3a 36
  • 91 (a)
OneToMany
chimpanzee
(Pan troglodytes)
Mammalia ATAD3B 35
  • 97.38 (n)
  • 97.58 (a)
-- 36
  • 80 (a)
ManyToMany
oppossum
(Monodelphis domestica)
Mammalia -- 36
  • 81 (a)
OneToMany
platypus
(Ornithorhynchus anatinus)
Mammalia -- 36
  • 88 (a)
OneToMany
rat
(Rattus norvegicus)
Mammalia Atad3a 35
  • 84.39 (n)
  • 92.48 (a)
chicken
(Gallus gallus)
Aves ATAD3A 35
  • 77.03 (n)
  • 87.5 (a)
-- 36
  • 80 (a)
OneToMany
lizard
(Anolis carolinensis)
Reptilia -- 36
  • 80 (a)
OneToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia atad3a 35
  • 71.79 (n)
  • 83.04 (a)
Str.16479 35
African clawed frog
(Xenopus laevis)
Amphibia MGC68616 35
zebrafish
(Danio rerio)
Actinopterygii atad3b 35
  • 76.14 (n)
  • 81.58 (a)
Dr.25732 35
atad3b 36
  • 81 (a)
OneToMany
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP001792 35
  • 67.05 (n)
  • 67.3 (a)
fruit fly
(Drosophila melanogaster)
Insecta bor 35
  • 65.84 (n)
  • 66.73 (a)
bor 36
  • 60 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea atad-3 35
  • 55.6 (n)
  • 58.63 (a)
atad-3 36
  • 55 (a)
OneToMany
thale cress
(Arabidopsis thaliana)
eudicotyledons AT3G03060 35
  • 48.78 (n)
  • 43.2 (a)
rice
(Oryza sativa)
Liliopsida Os02g0697600 35
  • 49.68 (n)
  • 40.73 (a)
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.5657 35
sea squirt
(Ciona savignyi)
Ascidiacea CSA.6689 36
  • 65 (a)
OneToMany
Species with no ortholog for ATAD3A:
  • 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
rs2274435 - 1,512,312(-) ccgcg(C/T)CTTCA upstream-variant-2KB, reference, missense
rs1619896 - 1,517,186(-) GCAGG(C/T)TCAGG intron-variant, reference, missense
rs1135025 -- 1,522,770(+) GCTGT(C/T)GGGGT reference, synonymous-codon
rs1149269 -- 1,519,125(+) GGCTC(C/T)GCGGG intron-variant
rs1077906 -- 1,520,875(-) GGGGC(C/T)GCCAC intron-variant

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

Variant ID Type Subtype PubMed ID
nsv10161 CNV Gain+Loss 18304495
dgv10n71 CNV Loss 21882294
dgv20n71 CNV Loss 21882294
dgv31n71 CNV Gain 21882294
dgv33n71 CNV Loss 21882294
dgv34n71 CNV Loss 21882294
nsv871837 CNV Loss 21882294
nsv871690 CNV Gain 21882294
essv5472 CNV CNV 17122850
dgv9e1 CNV Complex 17122850
esv2747363 CNV Deletion 23290073
dgv42n71 CNV Loss 21882294
dgv43n71 CNV Loss 21882294
nsv871421 CNV Loss 21882294
nsv871696 CNV Loss 21882294
dgv44n71 CNV Gain+Loss 21882294
nsv871954 CNV Loss 21882294
esv2747696 CNV Deletion 23290073
nsv821920 CNV Gain 20364138
nsv482157 CNV Gain 20164927
nsv871540 CNV Gain 21882294
dgv45n71 CNV Loss 21882294
esv2747807 CNV Deletion 23290073
esv2658581 CNV Deletion 23128226

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

HapMap Linkage Disequilibrium report
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 67
  2. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PMID: 12477932) Strausberg R.L. … Marra M.A. (Proc. Natl. Acad. Sci. U.S.A. 2002) 2 3
  3. Mitochondria-associated membrane formation in hormone-stimulated Leydig cell steroidogenesis: role of ATAD3. (PMID: 25375035) Issop L. … Papadopoulos V. (Endocrinology 2015) 3
  4. Integrative analysis of kinase networks in TRAIL-induced apoptosis provides a source of potential targets for combination therapy. (PMID: 25852190) So J. … Colwill K. (Sci Signal 2015) 3
  5. Temporal proteomics of NGF-TrkA signaling identifies an inhibitory role for the E3 ligase Cbl-b in neuroblastoma cell differentiation. (PMID: 25921289) Emdal K.B. … Olsen J.V. (Sci Signal 2015) 3

Products for ATAD3A Gene

Sources for ATAD3A Gene

Content