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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

ATAD3B Gene

protein-coding   GIFtS: 48
GCID: GC01P001397

ATPase family, AAA domain containing 3B

 Explore 1 disease affiliated with
ATAD3B via our new
 Human Malady Compendium 
Biological research products
for ATAD3B
    

(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 3B1 2
TOB31 2 3 5
KIAA12731 3 5
AAA-TOB32 3
AAA-ATPase TOB32
ATPase Family AAA Domain-Containing Protein 3B2

External Ids:    HGNC: 240071   Entrez Gene: 838582   Ensembl: ENSG000001600727   OMIM: 6123175   UniProtKB: Q5T9A43   

Export aliases for ATAD3B gene to outside databases

Previous GC identifers: GC01P001359 GC01P001493 GC01P000680


(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 ATAD3B:
ATAD3A (MIM 612316) and ATAD3B 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)

UniProtKB/Swiss-Prot: ATD3B_HUMAN, Q5T9A4
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




(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 ATAD3B gene promoter:
         POU2F2 (Oct-2.1)   Oct-B1   oct-B3   oct-B2   Lmo2   POU2F2   POU2F2C   POU2F1   POU2F1a   POU2F2B   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidATAD3B promoter sequence
   Search SABiosciences Chromatin IP Primers for ATAD3B

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat ATAD3B


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: 1p36.33

ATAD3B Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
ATAD3B gene location

GeneLoc information about chromosome 1         GeneLoc Exon Structure

GeneLoc location for GC01P001397:  view genomic region     (about GC identifiers)

Start:
1,407,143 bp from pter      End:
1,433,228 bp from pter
Size:
26,086 bases      Orientation:
plus strand

(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: ATD3B_HUMAN, Q5T9A4 (See protein sequence)
Recommended Name: ATPase family AAA domain-containing protein 3B  
Size: 648 amino acids; 72573 Da
Subunit: 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
Subcellular location: 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
Developmental stage: Expressed in proliferating embryonic stem cells and down-regulated during differentiation
Sequence caution: Sequence=BAA86587.1; Type=Erroneous initiation; Note=Translation N-terminally shortened;
Secondary accessions: A8K3H1 Q6ZRB5 Q9BUK4 Q9ULE7
Alternative splicing: 3 isoforms:  Q5T9A4-1   Q5T9A4-2   Q5T9A4-3   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for ATAD3B: NX_Q5T9A4

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q5T9A4

  • ATAD3B Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins: NP_114127.3  
    ENSEMBL proteins: 
     ENSP00000311766   ENSP00000368015  

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    Uscn Proteins for ATAD3B

    Gene Ontology (GO): 1 cellular component term (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005743mitochondrial inner membrane IEA--


    ATAD3B for ontologies           About GeneDecksing



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    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section

    ATAD3B for domains           About GeneDecksing

    3 InterPro domains/families:
     IPR003959 ATPase_AAA_core
     IPR003593 AAA+_ATPase
     IPR021911 DUF3523

    Graphical View of Domain Structure for InterPro Entry Q5T9A4

    ProtoNet protein and cluster: Q5T9A4

    UniProtKB/Swiss-Prot: ATD3B_HUMAN, Q5T9A4
    Similarity: Belongs to the AAA ATPase family


    (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: ATD3B_HUMAN, Q5T9A4
    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
    Induction: Up-regulated by MYC

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    Gene Ontology (GO): 2 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005524ATP binding IEA--
    GO:0017111nucleoside-triphosphatase activity IEA--


    ATAD3B for ontologies           About GeneDecksing



    (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 ATAD3B

    STRING Interaction Network Preview (showing 5 interactants - click image to see 19)

    5/395 Interacting proteins for ATAD3B (Q5T9A42, 3 ENSP000003117664) via UniProtKB, MINT, STRING, and/or I2D (see all 395)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    ICT1Q141972, 3, ENSP000003015854MINT-8079030 I2D: score=1 STRING: ENSP00000301585
    AGO3Q9H9G73, ENSP000003622874I2D: score=2 STRING: ENSP00000362287
    USP11P517843, ENSP000002183484I2D: score=2 STRING: ENSP00000218348
    USP20Q9Y2K63, ENSP000003138114I2D: score=2 STRING: ENSP00000313811
    MLH1P406923, ENSP000002317904I2D: score=1 STRING: ENSP00000231790
    About this table

    (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 Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for ATAD3B
    Search CenterWatch for drugs/clinical trials and news about ATAD3B / ATD3B 

    (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,
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    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 ATAD3B gene: 
    NM_031921.4  

    Unigene Cluster for ATAD3B:

    ATPase family, AAA domain containing 3B
    Hs.729021  [show with all ESTs]
    Unigene Representative Sequence: AB033099
    6 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000308647(uc001afv.3 uc021oeq.1) ENST00000472194(uc001afw.2 uc001afx.3)
    ENST00000378736 ENST00000485748 ENST00000474481 ENST00000378741

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    Inhib. RNA
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    Additional cDNA sequence: 

    AB033099.1 AK024028.1 AK097309.1 AK127857.1 AK128357.1 AK290586.1 BC002542.2 BC009938.2 
    BC018701.1 

    18 DOTS entries:

    DT.100789525  DT.100789533  DT.101961879  DT.91769413  DT.100031229  DT.121327897  DT.100031228  DT.100789532 
    DT.121327910  DT.121327932  DT.95265774  DT.100789528  DT.75124626  DT.92048665  DT.95265772  DT.121327912 
    DT.75182947  DT.95265763 

    24/466 AceView cDNA sequences (see all 466):

    AI744345 AW237061 CD672423 CD557191 CF242864 BI091881 CK823587 BQ925983 
    BE561304 BM556227 BF309272 AA564034 BU507084 BQ053152 BQ688832 BE391349 
    BQ129223 BM561826 BQ223719 BG740272 BX097516 BU633185 BF312210 BU155205 

    GeneLoc Exon Structure


    (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

    ATAD3B expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: GCCAGGGGCC

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)

    About this image
    See ATAD3B Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for ATAD3B

    SOURCE GeneReport for Unigene cluster: Hs.729021

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

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    In Situ
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    (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 ATAD3B gene from 7/24 species (see all 24)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    chicken
    (Gallus gallus)
    Aves ATAD3A1 ATPase family, AAA domain containing 3A 75.34(n)
    84.59(a)
      419412  XM_417573.3  XP_417573.3 
    lizard
    (Anolis carolinensis)
    Reptilia --
    --
    83(a)
    1 → many
    AAWZ02037771(2041-13692)
    zebrafish
    (Danio rerio)
    Actinopterygii atad3b1 ATPase family, AAA domain containing 3B 75.86(n)
    79.79(a)
      403004  NM_205703.1  NP_991266.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta bor1 belphegor 62.74(n)
    61.69(a)
      53565  NM_080257.3  NP_524996.1 
    worm
    (Caenorhabditis elegans)
    Secernentea atad-31 Protein ATAD-3 54.46(n)
    56.34(a)
      174590  NM_063809.5  NP_496210.2 
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons AT3G030601 P-loop containing nucleoside triphosphate hydrolase-like more 47.1(n)
    39.13(a)
      821146  NM_111176.2  NP_186956.2 
    rice
    (Oryza sativa)
    Liliopsida Os02g06976001 hypothetical protein 49.11(n)
    38.53(a)
      4330409  NM_001054356.1  NP_001047821.1 


    ENSEMBL Gene Tree for ATAD3B (if available)
    TreeFam Gene Tree for ATAD3B (if available) 

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for ATAD3B gene
    ATAD3A1 2  ATAD3C2  PSMC32  
    3 SIMAP similar genes for ATAD3B using alignment to 2 protein entries:     ATD3B_HUMAN (see all proteins):
    ATAD3A    DKFZp761L1023    ATAD3C

    ATAD3B for paralogs           About GeneDecksing



    (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

    10/672 NCBI SNPs in ATAD3B are shown (see all 672    About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 1 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1854070471,2
    --1405245(+) AATAAA/GTGAAA 2 -- ut31 us2k10--------
    rs1494390491,2
    --1405261(+) CTTAAC/GTGATG 2 -- ut31 us2k10--------
    rs1463602221,2
    --1405294(+) TTCTGC/TCCCAC 2 -- ut31 us2k10--------
    rs2013042381,2
    --1405346(+) GAAGG-/TTCT  
            
    TTGTC
    2 -- us2k1 ut310--------
    rs1912953361,2
    --1405394(+) TCCATA/CCCCTG 2 -- us2k1 ut310--------
    rs1397153381,2
    --1405402(+) CTGCCC/TGCAAA 2 -- ut31 us2k10--------
    rs12407331,2
    --1405414(+) CATTGC/TCCCTA 2 -- us2k1 ut310--------
    rs1112614181,2
    C,--1405576(+) TGCACG/ATGACA 2 -- us2k1 ds50011Minor allele frequency- A:0.50WA 2
    rs1487538281,2
    --1405743(+) CCACCA/TCGGCC 2 -- us2k1 ds50010--------
    rs1835555461,2
    --1405744(+) CACCTC/TGGCCT 2 -- us2k1 ds50010--------

    HapMap Linkage Disequilibrium report for ATAD3B (1407143 - 1433228 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 3 variations for ATAD3B
         3 CNVs: 68436 30362 3276

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    (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

    ATAD3B for disorders           About GeneDecksing

    OMIM gene information: 612317    OMIM disorders: --

    1 disease for ATAD3B:    About MalaCards
    malaria

    Human Genome Epidemiology (HuGE) Navigator: ATAD3B (4 documents)

    Export disorders for ATAD3B gene to outside databases

    (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 ATAD3B gene, integrated from 9 sources (see all 31):
    (articles sorted by number of sources associating them with ATAD3B)
        Utopia: connect your pdf to the dynamic
    world of online information

    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. (PubMed id 10574462)1, 2, 3 Nagase T.... Ohara O. (1999)
    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. (PubMed id 22664726)1, 2 Merle N....Baudier J. (2012)
    3. The DNA sequence and biological annotation of human chromosome 1. (PubMed id 16710414)1, 2 Gregory S.G.... Bentley D.R. (2006)
    4. Molecular characterization of the tumor-associated antigen AAA-TOB3. (PubMed id 16909202)1, 2 Schaffrik M....Gires O. (2006)
    5. 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)
    6. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
    7. Mitochondrial nucleoid interacting proteins support mitochondrial protein synthesis. (PubMed id 22453275)2 He J....Holt I.J. (2012)
    8. The proteomic analysis of endogenous FAT10 substrates identifies p62/SQSTM1 as a substrate of FAT10ylation. (PubMed id 22797925)1 Aichem A....Groettrup M. (2012)
    9. Global landscape of HIV-human protein complexes. (PubMed id 22190034)1 Jager S....Krogan N.J. (2012)
    10. [ATAD3, a vital membrane-bound mitochondrial ATPase in volved in tumor progression]. (PubMed id 22192748)1 Li S. and Rousseau D. (2011)

    (in PubMed, OMIM, and NCBI Bookshelf)
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    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 83858 HGNC: 24007 AceView: ATAD3AandATAD3BandFLJ37183 Ensembl:ENSG00000160072 euGenes: HUgn83858
    ECgene: ATAD3B H-InvDB: ATAD3B

    (According to HUGE)
    About This Section
    HUGE: KIAA1273

    (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
    NameDescription
    PharmGKB entry for ATAD3B Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for ATAD3B gene:
    Search GeneIP for patents involving ATAD3B

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



    (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),
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