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ATAD3C Gene

protein-coding   GIFtS: 36
GCID: GC01P001385

ATPase Family, AAA Domain Containing 3C

  Search for ATAD3C
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
ATPase Family, AAA Domain Containing 3C1 2
ATPase Family AAA Domain-Containing Protein 3C2
ATPase Family, AAA Domain Containing 3A2

External Ids:    HGNC: 321511   Entrez Gene: 2192932   Ensembl: ENSG000002159157   UniProtKB: Q5T2N83   

Export aliases for ATAD3C gene to outside databases

Previous GC identifers: GC01P001471 GC01P001375 GC01P001376 GC01P000662


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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GeneCards Summary for ATAD3C Gene:
ATAD3C (ATPase family, AAA domain containing 3C) is a protein-coding gene. GO annotations related to this gene include nucleoside-triphosphatase activity. An important paralog of this gene is ATAD3B.


(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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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Regulatory elements:
   Regulatory transcription factor binding sites in the ATAD3C gene promoter:
         GR   Bach1   AML1a   Pax-6   XBP-1   Arnt   C/EBPalpha   HEN1   NRF-2   ARP-1   
         Other transcription factors

Browse SwitchGear Promoter luciferase reporter plasmids
   Search Chromatin IP Primers for ATAD3C

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat ATAD3C


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

ATAD3C Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
ATAD3C gene location

GeneLoc information about chromosome 1         GeneLoc Exon Structure

GeneLoc location for GC01P001385:  view genomic region     (about GC identifiers)

Start:
1,385,069 bp from pter      End:
1,405,538 bp from pter
Size:
20,470 bases      Orientation:
plus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, 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 Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: ATD3C_HUMAN, Q5T2N8 (See protein sequence)
Recommended Name: ATPase family AAA domain-containing protein 3C  
Size: 411 amino acids; 46380 Da
Sequence caution: Sequence=AAI01212.1; Type=Erroneous translation; Note=Wrong choice of frame;
Sequence=AAI01213.1; Type=Erroneous translation; Note=Wrong choice of frame; Sequence=BAC04369.1; Type=Erroneous
translation; Note=Wrong choice of frame; Sequence=CAI22067.1; Type=Erroneous gene model prediction;
Sequence=CAI22656.1; Type=Erroneous gene model prediction;
Secondary accessions: Q8N1Z5

Explore the universe of human proteins at neXtProt for ATAD3C: NX_Q5T2N8

Explore proteomics data for ATAD3C at MOPED

Post-translational modifications: 

  • Ubiquitination2 at Lys219
  • Modification sites at PhosphoSitePlus

  • See ATAD3C Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_001034300.2  
    ENSEMBL proteins: 
     ENSP00000368062   ENSP00000464661  

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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    HGNC Gene Families:
    AATP: ATPases / AAA-type

    4 InterPro protein domains:
     IPR003959 ATPase_AAA_core
     IPR027417 P-loop_NTPase
     IPR003593 AAA+_ATPase
     IPR021911 DUF3523

    Graphical View of Domain Structure for InterPro Entry Q5T2N8

    ProtoNet protein and cluster: Q5T2N8

    UniProtKB/Swiss-Prot: ATD3C_HUMAN, Q5T2N8
    Similarity: Belongs to the AAA ATPase family


    ATAD3C for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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         Gene Ontology (GO): 4 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000166nucleotide binding ----
    GO:0005524ATP binding IEA--
    GO:0009378four-way junction helicase activity ----
    GO:0017111nucleoside-triphosphatase activity IEA--
         
    ATAD3C for ontologies           About GeneDecksing


    Animal Models:
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    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    cytosol2
    nucleus2
    endoplasmic reticulum1
    mitochondrion1
    peroxisome1

    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, 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 Apr 2014 via Entrez Gene).
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        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for ATAD3C
    Interactions:

        Search GeneGlobe Interaction Network for ATAD3C

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    Selected Interacting proteins for ATAD3C (Q5T2N83 ENSP000003680624) via UniProtKB, MINT, STRING, and/or I2D (see all 25)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    ESR1P033723, ENSP000002062494I2D: score=1 STRING: ENSP00000206249
    SARSENSP000002346774STRING: ENSP00000234677
    SPTAN1ENSP000003618244STRING: ENSP00000361824
    SPTBN5ENSP000003177904STRING: ENSP00000317790
    KCTD3ENSP000002591544STRING: ENSP00000259154
    About this table

    Gene Ontology (GO): 2 biological process terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006281DNA repair ----
    GO:0006310DNA recombination ----

    ATAD3C for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for ATAD3C (ATD3C)



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 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,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for ATAD3C gene: 
    NM_001039211.2  

    3 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000378785(uc001aft.2) ENST00000475091 ENST00000484537
    miRNA
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      QuantiFast Probe-based Assays in human, mouse, rat ATAD3C

    Selected AceView cDNA sequences (see all 466):

    AA555166 BM556227 BG740272 AW237061 BF312210 CR609514 BC002542 BM310993 
    AU143103 BC009938 BQ943893 BU956220 AL834179 AI678769 NM_031921 BI091881 
    BE251451 BE561304 AA564034 BQ129223 BQ028996 AI864051 AK024028 BU633185 

    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™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    ATAD3C expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GGAGGCAGAG
    ATAD3C Expression
    About this image

    ATAD3C Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    ATAD3C Protein Expression
        Custom PCR Arrays for ATAD3C
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ATAD3C

    (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)
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    This gene was present in the common ancestor of animals.

    Orthologs for ATAD3C gene from Selected species (see all 12)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    chicken
    (Gallus gallus)
    Aves --
    Uncharacterized protein
    53(a)
    1 → many
    21(2156093-2174774)
    lizard
    (Anolis carolinensis)
    Reptilia --
    Uncharacterized protein
    75(a)
    1 → many
    AAWZ02037771(1424-14229)
    zebrafish
    (Danio rerio)
    Actinopterygii atad3b6
    ATPase family, AAA domain containing 3B
    16(a)
    1 → many
    22(47436-49330) ENSDARG00000086848
    fruit fly
    (Drosophila melanogaster)
    Insecta bor6
    belphegor
    41(a)
    1 → many
    3R(12087077-12089837)
    worm
    (Caenorhabditis elegans)
    Secernentea atad-36
    Protein ATAD-3 (atad-3) mRNA, complete cds
    38(a)
    1 → many
    II(10248991-10251171) WBGene00010015
            Species with no ortholog for ATAD3C

    ENSEMBL Gene Tree for ATAD3C (if available)
    TreeFam Gene Tree for ATAD3C (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for ATAD3C gene
    ATAD3B2  ATAD3A2  
    3 SIMAP similar genes for ATAD3C using alignment to 2 protein entries:     ATD3C_HUMAN (see all proteins):
    ATAD3A    ATAD3B    DKFZp761L1023

    ATAD3C for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, 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), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for ATAD3C (see all 699)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 1 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1817288761,2
    --656741(+) CTGATC/TGCAAA 1 -- us2k10--------
    rs1862405781,2
    --656767(+) AATCCA/GCCCGC 1 -- us2k10--------
    rs1894778261,2
    --1383195(+) TATATG/TTTTTA 1 -- us2k10--------
    rs1807761651,2
    --1383372(+) CAGGCA/GCCTGT 1 -- us2k10--------
    rs1860581431,2
    --1383392(+) TATTCA/GGGAGG 1 -- us2k10--------
    rs1913025411,2
    --1383416(+) ATGGCA/GTGAAC 1 -- us2k10--------
    rs1830532761,2
    --1383441(+) TTGCAA/GTGAGC 1 -- us2k10--------
    rs1867910311,2
    --1383467(+) GCACTC/GCAGCC 1 -- us2k10--------
    rs1477099921,2
    C--1383587(+) TGAGGC/TTTGGC 1 -- us2k10--------
    rs760726721,2
    C--1383725(+) GATCTC/TGGCTC 1 -- us2k10--------

    HapMap Linkage Disequilibrium report for ATAD3C (1385069 - 1405538 bp)

    Structural Variations
         Database of Genomic Variants (DGV) Selected variations for ATAD3C (see all 23):    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2662001CNV Deletion23128226
    esv2747363CNV Deletion23290073
    esv2747474CNV Deletion23290073
    dgv12n71CNV Loss21882294
    dgv42n71CNV Loss21882294
    dgv19n71CNV Loss21882294
    dgv10n71CNV Loss21882294
    dgv34n71CNV Loss21882294
    nsv871837CNV Loss21882294
    dgv33n71CNV Loss21882294

    Site Specific Mutation Identification with PCR Assays
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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.)
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      --

    (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)
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    PubMed articles for ATAD3C gene integrated from 10 sources:
    (articles sorted by number of sources associating them with ATAD3C)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (Nat. Genet. 2004)
    2. Interlaboratory reproducibility of large-scale human protein-complex analysis by standardized AP-MS. (PubMed id 23455922)1 Varjosalo M....Superti-Furga G. (Nat. Methods 2013)
    3. [ATAD3, a vital membrane-bound mitochondrial ATPase involved in tumor progression]. (PubMed id 22192748)1 Li S. and Rousseau D. (Med Sci (Paris) 2011)
    4. A proteome-wide, quantitative survey of in vivo ubiquitylation sites reveals widespread regulatory roles. (PubMed id 21890473)1 Wagner S.A....Choudhary C. (amp 2011)
    5. The DNA sequence and biological annotation of human chromosome 1. (PubMed id 16710414)2 Gregory S.G.... Bentley D.R. (Nature 2006)
    6. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)2 Gerhard D.S.... Malek J. (Genome Res. 2004)
    7. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PubMed id 12477932)1 Strausberg R.L....Marra M.A. (Proc. Natl. Acad. Sci. U.S.A. 2002)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 219293 HGNC: 32151 AceView: ATAD3AandATAD3BandFLJ37183 Ensembl:ENSG00000215915 euGenes: HUgn219293
    ECgene: ATAD3C H-InvDB: ATAD3C

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for ATAD3C Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for ATAD3C gene:
    Search GeneIP for patents involving ATAD3C

    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, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript, and ESI BIO, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
    Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory, genOway)
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     Block miRNA regulation of human, mouse, rat ATAD3C using miScript Target Protectors SeqTarget long-range PCR primers for resequencing ATAD3C
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     Custom PCR Arrays for ATAD3C Search Chromatin IP Primers for ATAD3C
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     Search Tocris compounds for ATAD3C (ATD3C)
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     Search www.enzolifesciences.com for proteins, assays, substrates, inhibitors & antibodies

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