ATAD3A Gene
protein-coding GIFtS: 46
GCID: GC01P001439
|
|
ATPase family, AAA domain containing 3A
| |
Aliases
for ATAD3A gene
(According to
1HGNC,
2Entrez Gene,
3UniProtKB/Swiss-Prot,
4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc,
7Ensembl,
8DME,
9miRBase,
and/or 10fRNAdb)
About This Section
|
| Aliases |
|---|
| ATPase Family, AAA Domain Containing 3A1 2 | | FLJ107091 | | ATPase Family AAA Domain-Containing Protein 3A2 |
Export aliases for ATAD3A gene to outside databasesPrevious GC identifers: GC01P001387 GC01P001532 GC01P001374 GC01P000720 |
Summaries
for ATAD3A gene(According to Entrez Gene,
Tocris Bioscience,
Wikipedia's
Gene Wiki,
PharmGKB,
UniProtKB/Swiss-Prot,
and/or
UniProtKB/TrEMBL)
About This Section
|
Entrez Gene summary for ATAD3A:
ATAD3A and ATAD3B (MIM 612317) are mitochondrial membrane proteins that contribute to the stabilization of largemitochondrial DNA (mtDNA)-protein complexes called nucleoids (He et al., 2007 (PubMed 17210950)).(supplied by OMIM,Sep 2008)
UniProtKB/Swiss-Prot: ATD3A_HUMAN, Q9NVI7Function: Essential for mitochondrial network organization, mitochondrial metabolism and cell growth at organism andcellular level. May play an important in mitochondrial protein synthesis. May also participate in mitochondrial DNAreplication. May bind to mitochondrial DNA D-loops and contribute to nucleoid stability. Required for enhancedchanneling of cholesterol for hormone-dependent steroidogenesis
|
Genomic Views
for ATAD3A gene
(According to
GeneLoc and/or
HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to
UCSC (hg19) and
Ensembl (release 69),
Regulatory elements and Epigenetics data according to
QIAGEN,
SABiosciences, and/or
SwitchGear Genomics)
About This Section
| RefSeq DNA sequence:- NC_000001.10 NC_018912.1 NT_004350.19
Regulatory elements:
 SABiosciences Regulatory transcription factor binding sites in the ATAD3A gene promoter:
POU2F2 (Oct-2.1) Oct-B1 oct-B2 oct-B3 Arnt POU2F2 POU2F2C POU2F1 POU2F1a POU2F2B
Other transcription factors
Search SABiosciences Chromatin IP Primers for ATAD3A
Epigenetics:
| | QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat ATAD3A |
Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track
Entrez Gene cytogenetic band: 1p36.33 Ensembl cytogenetic band: 1p36.33 HGNC cytogenetic band: 1p36.33ATAD3A Gene in genomic location: bands according to Ensembl, locations according to
 (and/or Entrez Gene and/or Ensembl if different)
GeneLoc information about chromosome 1 GeneLoc Exon Structure GeneLoc location for GC01P001439: view genomic region
(about GC identifiers)
Start:
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1,447,523 bp from pter |
End:
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1,470,067 bp from pter |
Size:
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22,545 bases |
Orientation:
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plus strand |
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Proteins
for ATAD3A gene
(According to
1UniProtKB,
HORDE,
neXtProt,
Ensembl,
and/or Reactome,
Modification sites according to 2PhosphoSitePlus,
Specific Peptides from DME,
Protein expression images according to data from SPIRE MOPED and PaxDb,
RefSeq according to NCBI,
PDB rendering according to OCA and/or Proteopedia,
Recombinant Proteins
from
EMD Millipore,
R&D Systems,
GenScript,
Enzo Life Sciences,
OriGene,
Novus Biologicals,
Sino Biological,
ProSpec, and/or
Uscn,
Biochemical Assays by
EMD Millipore,
R&D Systems,
OriGene,
GenScript,
Cell Signaling Technology,
Enzo Life Sciences, and/or
Uscn,
Ontologies according to Gene
Ontology Consortium 01 Mar 2013 and
Entrez Gene,
Antibodies by
EMD Millipore,
R&D Systems,
GenScript,
Cell Signaling Technology,
OriGene,
Novus Biologicals,
Thermo Fisher Scientific,
Abcam, and/or
Uscn)
About This Section
|
UniProtKB/Swiss-Prot: ATD3A_HUMAN, Q9NVI7 (See
protein sequence)Recommended Name: ATPase family AAA domain-containing protein 3A Size: 634 amino acids; 71369 Da
Subunit: Can form homooligomers. Homodimer formation at the N-terminus may be regulated by ATP and is required for theinteraction 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 RNAmetabolism. 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 probablyoccurs in the cytosol prior to mitochondrial targeting. S100B could assist ATAD3A cytoplasmic processing, preventingaggregation and favoring mitochondrial localization. Interacts with HSP60/HSPD1. Forms heterooligomers with ATAD3B;this interaction may affect ATAD3A activity
Subcellular location: Mitochondrion inner membrane; Single-pass membrane protein. Mitochondrion matrix, mitochondrionnucleoid. Note=In the mitochondrial inner membrane, enriched in sites with the potential to form contacts with theouter membrane. The N-terminal domain interacts with the inner surface of the mitochondrial outer membrane and theC-terminal domain localizes in a specific matrix compartment, where it is associated with nucleoids
Secondary accessions: B3KPB3 D2K8Q1 G3V1I6 Q5SV23 Q8N275 Q96A50Alternative splicing: 3 isoforms: Q9NVI7-1 Q9NVI7-2 Q9NVI7-3 (No experimental confirmation available)Explore the universe of human proteins at neXtProt for ATAD3A: NX_Q9NVI7
Post-translational modifications:
View modification sites using PhosphoSitePlus2View neXtProt modification sites for NX_Q9NVI7
ATAD3A Protein expression data from MOPED and PaxDb: About this image 
REFSEQ proteins (3 alternative transcripts):
NP_001164006.1 NP_001164007.1 NP_060658.3
ENSEMBL proteins: ENSP00000368031 ENSP00000368030 ENSP00000339421 ENSP00000383631 ENSP00000439290
Human Recombinant Protein Products:
Gene Ontology (GO): 4 cellular component terms (GO ID links to tree view): About this table
ATAD3A for ontologies About GeneDecksing
ATAD3A Antibody Products:
Assay Products for ATAD3A: |
Protein
Domains /
Families
for ATAD3A gene(According to InterPro, ProtoNet,
UniProtKB, and/or BLOCKS,
Sets of similar genes according to GeneDecks)
About This Section
|
ATAD3A for domains About GeneDecksing
3 InterPro domains/families:Graphical View of Domain Structure for InterPro Entry Q9NVI7ProtoNet protein and cluster: Q9NVI7 UniProtKB/Swiss-Prot: ATD3A_HUMAN, Q9NVI7Domain: The transmembrane domain and a C-terminal adjacent region contain all information necessary for mitochondrialtargeting (PubMed:20154147)Similarity: Belongs to the AAA ATPase family |
Function
for ATAD3A gene
(According to 1UniProtKB,
Genatlas,
LifeMap Discovery™,
IUBMB, and/or
2DME,
Human phenotypes from GenomeRNAi,
Animal models from MGI Mar 06 2013,
bound targets from SABiosciences,
miRNA Gene Targets from miRTarBase
shRNA from
OriGene,
RNAi from
EMD Millipore,
siRNAs from
OriGene,
QIAGEN,
microRNA from QIAGEN,
Gene Editing from DNA2.0,
Clones from EMD Millipore,
OriGene,
SwitchGear Genomics,
GenScript,
Sino Biological,
DNA2.0,
and Vector BioLabs,
Cell Lines from GenScript,
LifeMap BioReagents,
In Situ Hybridization Assays from Advanced Cell Diagnostics,
Ontologies according to Gene Ontology Consortium 01 Mar 2013 via
Entrez Gene.)
About This Section
|
Function Summary:
UniProtKB/Swiss-Prot: ATD3A_HUMAN, Q9NVI7Function: Essential for mitochondrial network organization, mitochondrial metabolism and cell growth at organism andcellular level. May play an important in mitochondrial protein synthesis. May also participate in mitochondrial DNAreplication. May bind to mitochondrial DNA D-loops and contribute to nucleoid stability. Required for enhancedchanneling of cholesterol for hormone-dependent steroidogenesisInduction: Up-regulated by Angiotensin/AGT
Clone
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OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for ATAD3A (see all 3)
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Gene Ontology (GO): 2 molecular function terms (GO ID links to tree view): About this table | GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|
| GO:0005524 | ATP binding |
IEA | -- | | GO:0017111 | nucleoside-triphosphatase activity |
IEA | -- |
ATAD3A for ontologies About GeneDecksing
|
Pathways & Interactions
for ATAD3A gene
(Pathways according to
EMD Millipore,
R&D Systems,
Cell Signaling Technology,
KEGG,
PharmGKB,
BioSystems,
Reactome,
Tocris Bioscience,
GeneGo (Thomson Reuters),
QIAGEN,
and/or UniProtKB,
Sets of similar genes according to GeneDecks,
Interaction Networks according to
SABiosciences,
and/or STRING,
Interactions according to 1UniProtKB,
2MINT,
3I2D, and/or
4STRING,
with links to IntAct and
Ensembl,
Ontologies according to Gene Ontology Consortium 01 Mar 2013 via
Entrez Gene).
About This Section
|
Interactions:
Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for ATAD3A
STRING Interaction
Network Preview (showing 5 interactants - click image to see 25)
5/325 Interacting proteins for ATAD3A (Q9NVI72, 3 ENSP000003680304) via UniProtKB, MINT, STRING, and/or I2D (see all 325)About this table
Gene Ontology (GO): 2 biological process terms (GO ID links to tree view): About this table | GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|
| GO:0016049 | cell growth |
IMP | -- | | GO:0043066 | negative regulation of apoptotic process |
IMP | -- |
ATAD3A for ontologies About GeneDecksing
|
Drugs & Compounds
for ATAD3A gene(Chemical Compounds according to UniProtKB, Enzo Life Sciences,
EMD Millipore, Tocris Bioscience
HMDB,
BitterDB, and/or
Novoseek, and Drugs according to
DrugBank,
Enzo Life Sciences, and/or
PharmGKB, with drugs/clinical trials/news
search links to CenterWatch)
About This Section
|
 Browse Tocris compounds for ATAD3A
Search CenterWatch for drugs/clinical trials and news about ATAD3A / ATD3A
|
Transcripts
for ATAD3A gene(Secondary structures according to
fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene
(Build 235 Homo sapiens; Mar 10 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or
AceView,
transcript ids from Ensembl
with links to UCSC,
exon structure from GeneLoc,
alternative splicing isoforms according to ASD and/or
ECgene,
RNAi Products from
EMD Millipore,
siRNAs from
OriGene,
QIAGEN,
shRNA from
OriGene,
microRNA from QIAGEN,
Tagged/untagged cDNA clones from
OriGene,
SwitchGear Genomics,
GenScript,
DNA2.0,
Vector BioLabs,
Primers from
OriGene,
SABiosciences, and/or
QIAGEN
)
About This Section
|
REFSEQ mRNAs for ATAD3A gene (3 alternative transcripts): NM_001170535.1 NM_001170536.1 NM_018188.3 Unigene Cluster for ATAD3A: ATPase family, AAA domain containing 3A Hs.23413 [show with all ESTs]Unigene Representative Sequence: NM_0181887 Ensembl transcripts including schematic representations, and UCSC links where relevant: ENST00000378756(uc001aga.2) ENST00000378755(uc001afz.2) ENST00000339113
ENST00000439513 ENST00000429957 ENST00000400830 ENST00000536055(uc001agb.2)
Clone
Products: | | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for ATAD3A (see all 5)
OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for ATAD3A (see all 3)
OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling
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Additional cDNA sequence: AK001571.1 AK025865.1 AK056099.1 AK091144.1 AK092833.1 AK310572.1 BC007803.2 BC011814.2 BC014101.2 BC033109.1 BC063607.1 GU189416.1 19 DOTS entries: DT.100789528 DT.75100599 DT.95265763 DT.100031230 DT.121327937 DT.100031226 DT.121327954 DT.95265774 DT.97854639 DT.100789525 DT.100789527 DT.100789530 DT.121327912 DT.121327932 DT.75182947 DT.91769413 DT.91897777 DT.92048665 DT.99998976 24/466 AceView cDNA sequences (see all 466): BG760426 BC009938 BQ129223 BG740272 BE561304 BE391349 BQ028996 BM699613 AL834179 AW237061 CA454930 AA555166 BM668156 BQ688832 AI744345 BM561824 BX104486 AI864051 AU143103 BU633185 BF312210 C20767 BM310993 BG743097
GeneLoc Exon Structure
|
Expression
for ATAD3A gene
(RNA expression data according to
H-InvDB,
NONCODE,
miRBase, and
RNAdb,
Expression images according to data from
BioGPS,
Illumina Human BodyMap, and
CGAP
SAGE,
Sets of similar genes according to GeneDecks,
in vivo and in vitro expression data from LifeMap Discovery™,
plus additional links to
Genevestigator, and/or
SOURCE, and/or
BioGPS, and/or
UniProtKB,
PCR Arrays from
SABiosciences,
Primers from
OriGene,
SABiosciences, and/or
QIAGEN,
In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section
| ATAD3A expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: CCCCGATCTT
About this image
See ATAD3A Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for ATAD3A
SOURCE GeneReport for Unigene cluster: Hs.23413
UniProtKB/Swiss-Prot: ATD3A_HUMAN, Q9NVI7Tissue specificity: Overexpressed in lung adenocarcinomas (at protein level)
SABiosciences Custom PCR Arrays for ATAD3A
Primer
Products: | | OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for ATAD3A
Browse OriGene validated miRNA SYBR primer pairs
| | | SABiosciences RT2 qPCR Primer Assay in human, mouse, rat ATAD3A | | | QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat ATAD3A | | | QIAGEN QuantiFast Probe-based Assays in human, mouse, rat ATAD3A |
Orthologs
for ATAD3A gene
(Orthologs according to
1,2HomoloGene (2older version, for species not in 1newer version),
3euGenes,
4SGD
,
5MGI Mar 06 2013,
with possible further links to
Flybase
and/or
WormBase,
and/or
6Ensembl pan taxonomic compara ,
Gene Trees according to Ensembl and
TreeFam)
About This Section
|
This gene was present in the common ancestor of eukaryotes.
Orthologs for ATAD3A gene from 8/28 species (see all 28) About this table
| Organism |
Taxonomic
classification |
Gene |
Description |
Human
Similarity |
Orthology
Type |
Details |
chicken
(Gallus gallus) |
Aves |
ATAD3A1 |
ATPase family, AAA domain containing 3A |
77.39(n)
88.7(a) |
|
419412 XM_417573.3 XP_417573.3 |
lizard
(Anolis carolinensis) |
Reptilia |
-- |
-- |
89(a) |
1 → many |
AAWZ02037771(2041-13692) |
African clawed frog
(Xenopus laevis) |
Amphibia |
MGC686162 |
hypothetical protein MGC68616 |
75.23(n) |
|
BC060012.1 |
zebrafish
(Danio rerio) |
Actinopterygii |
Dr.257322 |
Transcribed sequence with moderate similarity to protein more |
79.74(n) |
|
CA473917.1 |
fruit fly
(Drosophila melanogaster) |
Insecta |
bor1 |
belphegor |
63.8(n)
63.68(a) |
|
53565 NM_080257.3 NP_524996.1 |
worm
(Caenorhabditis elegans) |
Secernentea |
atad-31 |
Protein ATAD-3 |
55.22(n)
57.57(a) |
|
174590 NM_063809.5 NP_496210.2 |
thale cress
(Arabidopsis thaliana) |
eudicotyledons |
AT3G030601 |
P-loop containing nucleoside triphosphate hydrolase-like more |
47.11(n)
40.07(a) |
|
821146 NM_111176.2 NP_186956.2 |
rice
(Oryza sativa) |
Liliopsida |
Os02g06976001 |
hypothetical protein |
49.33(n)
39.42(a) |
|
4330409 NM_001054356.1 NP_001047821.1 |
ENSEMBL Gene Tree for ATAD3A (if available)
TreeFam Gene Tree for ATAD3A (if available) |
Paralogs
for ATAD3A gene(Paralogs according to
1HomoloGene,
2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
About This Section
| Paralogs for ATAD3A gene
- ATAD3B1 2 ATAD3C2 PSMC32
3 SIMAP similar genes for ATAD3A using alignment to 3 protein entries: ATD3A_HUMAN (see all proteins):ATAD3B ATAD3C DKFZp761L1023
ATAD3A for paralogs About GeneDecksing
2 Pseudogenes.org Pseudogenes for ATAD3A
PGOHUM00000259546 PGOHUM00000251105
|
Genomic Variants
for ATAD3A gene(SNPs/Variants according to the
1NCBI SNP Database,
2Ensembl,
3PupaSUITE,
UniProtKB, and
DNA2.0,
Linkage Disequilibrium by HapMap,
Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene
Mutation Database (HGMD) and the Locus Specific Mutation
Databases (LSDB), Blood group antigen gene mutations by BGMUT,
Resequencing Primers from QIAGEN,
Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
About This Section
|
| Genomic Data | Transcription Related Data | Allele Frequencies | | SNP ID | Valid | Clinical
significance | Chr 1 pos | Sequence | # | AA
Chg | Type | More | # | Allele
freq | Pop | Total
sample | More |
|---|
HapMap Linkage Disequilibrium report for ATAD3A (1447523 - 1470067 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV): 3 variations for ATAD3A
3 CNVs: 2295 30362 3276 | SABiosciences Cancer Mutation PCR Assays |
| | QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing ATAD3A |
|
Disorders
/ Diseases
for ATAD3A gene
(in which this Gene is Involved, According to MalaCards,
OMIM, UniProtKB,
the University of Copenhagen DISEASES
database,
Genatlas, GeneTests,
GAD,
HuGE Navigator,
and/or TGDB.)
About This Section
|
ATAD3A for disorders About GeneDecksing
OMIM gene information: 612316
OMIM disorders: --
5  diseases for ATAD3A: About MalaCardslung adenocarcinoma adenocarcinoma prostate cancer prostatitis
malaria
Human Genome Epidemiology (HuGE) Navigator: ATAD3A (1 document)
Export disorders for ATAD3A gene to outside databases
|
Publications
for ATAD3A gene (in
PubMed.
Associations of this gene to articles via
1Entrez Gene,
2UniProtKB/Swiss-Prot,
3HGNC,
4GAD,
5PharmGKB,
6HMDB,
7DrugBank,
8UniProtKB/TrEMBL,
9 Novoseek, and/or
10fRNAdb)
About This Section
|
PubMed articles for ATAD3A gene, integrated from 9 sources (see all 41):
(articles sorted by number of sources associating them with ATAD3A) | |  | Utopia: connect your pdf to the dynamic
world of online information |
- ATAD3B is a human embryonic stem cell specific mitochondrial protein, re-expressed in cancer cells, that functions as dominant negative for the ubiquitous ATAD3A. (PubMed id 22664726)1, 2 Merle N....Baudier J. (2012)
- Topological analysis of ATAD3A insertion in purified human mitochondria. (PubMed id 20349121)1, 2 Hubstenberger A....Rousseau D. (2010)
- The calcium-dependent interaction between S100B and t he mitochondrial AAA ATPase ATAD3A and the role of this complex in the cytoplas mic processing of ATAD3A. (PubMed id 20351179)1, 2 Gilquin B....Baudier J. (2010)
- The AAA+ ATPase ATAD3A controls mitochondrial dynamic s at the interface of the inner and outer membranes. (PubMed id 20154147)1, 2 Gilquin B....Baudier J. (2010)
- ATPase family AAA domain-containing 3A is a novel ant i-apoptotic factor in lung adenocarcinoma cells. (PubMed id 20332122)1, 2 Fang H.Y....Chow K.C. (2010)
- The layered structure of human mitochondrial DNA nucleoids. (PubMed id 18063578)1, 2 Bogenhagen D.F....Burke S. (2008)
- The AAA+ protein ATAD3 has displacement loop binding properties and is involved in mitochondrial nucleoid organization. (PubMed id 17210950)1, 2 He J....Holt I.J. (2007)
- The DNA sequence and biological annotation of human chromosome 1. (PubMed id 16710414)1, 2 Gregory S.G.... Bentley D.R. (2006)
- Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
- The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S....Malek J. (2004)
|
External Searches for ATAD3A gene
(in PubMed,
OMIM, and NCBI Bookshelf)
About This Section
|
|
Genome Databases showing ATAD3A gene
(According to
Entrez Gene,
HGNC,
AceView,
euGenes,
Ensembl,
miRBase,
ECgene,
Kegg,
and/or
H-InvDB)
About This Section
|
|
Other Databases showing ATAD3A gene
(According to HUGE)
About This Section
| -- |
Specialized Databases showing ATAD3A gene(According to PharmGKB,
ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
About This Section
|
| Name | Description |
| PharmGKB entry for ATAD3A | Pharmacogenomics, SNPs, Pathways |
|
| | |
About This Section
| Patent Information for ATAD3A gene:
Search GeneIP for patents involving ATAD3A
GeneCards and IP:
Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search
|
Products
for ATAD3A gene(Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Uscn, Thermo Fisher Scientific, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or
Enzo Life Sciences),
In Situ Hybridization Assays from
Advanced Cell Diagnostics
About This Section
|
 | |
 | |
 |
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| | | |  |  |  | | | | ThermoFisher Antibodies for ATAD3A |
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