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

ATAD3C Gene

protein-coding   GIFtS: 39
GCID: GC01P001376

ATPase family, AAA domain containing 3C

 Explore 1 disease affiliated with
ATAD3C via our new
 Human Malady Compendium 
Biological research products
for ATAD3C
    

(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 3C1 2
FLJ345991
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 GC01P000662


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

  --

(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 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 SABiosciences Chromatin IP Primers for ATAD3C

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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 GC01P001376:  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, 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: 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

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q5T2N8

  • ATAD3C Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins: NP_001034300.2  
    ENSEMBL proteins: 
     ENSP00000368062   ENSP00000464661  

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

    ATAD3C 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 Q5T2N8

    ProtoNet protein and cluster: Q5T2N8

    UniProtKB/Swiss-Prot: ATD3C_HUMAN, Q5T2N8
    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

    miRNA
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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--


    ATAD3C 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 ATAD3C

    STRING Interaction Network Preview (showing 1 interactants - click image to see more details)

    1 Interacting protein for ATAD3C (Q5T2N83 ENSP000003680624) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    ESR1P033723, ENSP000002062494I2D: score=1 STRING: ENSP00000206249
    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 ATAD3C
    Search CenterWatch for drugs/clinical trials and news about ATAD3C / ATD3C 

    (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 ATAD3C gene: 
    NM_001039211.2  

    Unigene Cluster for ATAD3C:

    ATPase family, AAA domain containing 3C
    Hs.724767  [show with all ESTs]
    Unigene Representative Sequence: NM_001039211
    3 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000378785(uc001aft.2) ENST00000475091 ENST00000484537

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      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat ATAD3C
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    Additional cDNA sequence: 

    AK091918.1 AK094502.1 BC101211.1 BC101212.1 

    5 DOTS entries:

    DT.100789537  DT.91794510  DT.91769413  DT.65286225  DT.75124626 

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

    AA555166 BM668156 BQ219220 AK024028 BI160963 CF127746 BU956220 BQ955748 
    NM_031921 BG829746 BM561824 BQ943893 BQ051894 BU955794 CA454930 BQ028996 
    BC002542 BM699613 BG743097 CF242892 BM310993 AL834179 AI827252 AU143103 

    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

    ATAD3C expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: GGAGGCAGAG

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

    About this image
    See ATAD3C Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for ATAD3C

    SOURCE GeneReport for Unigene cluster: Hs.724767
        SABiosciences 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)
    About This Section

    This gene was present in the common ancestor of eukaryotes.

    Orthologs for ATAD3C gene from 7/20 species (see all 20)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    chicken
    (Gallus gallus)
    Aves ATAD3A6
    Uncharacterized protein
    55(a)
    1 → many
    21(2138912-2156346)
    lizard
    (Anolis carolinensis)
    Reptilia --
    --
    83(a)
    1 → many
    AAWZ02037771(2041-13692)
    zebrafish
    (Danio rerio)
    Actinopterygii atad3b6
    ATPase family, AAA domain containing 3B
    16(a)
    1 → many
    22(47436-49330)
    fruit fly
    (Drosophila melanogaster)
    Insecta bor6
    belphegor
    41(a)
    1 → many
    3R(12087077-12089837)
    worm
    (Caenorhabditis elegans)
    Secernentea atad-36
    Protein ATAD-3
    38(a)
    1 → many
    II(10248931-10251111)
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons AT3G030606
    AT2G183306
    (see all 4)
    AAA-type ATPase-like protein
    (see all 4)
    24(a)
    23(a)
    (see all 4)
    possible ortholog
    possible ortholog
    (see all 4)
    3(692056-695648)
    2(7965635-7969105)
    rice
    (Oryza sativa)
    Liliopsida --
    --
    AAA-type ATPase family protein, putative, expresse...
    AAA-type ATPase family protein, putative, expresse...
    29(a)
    24(a)
    possible ortholog
    possible ortholog
    2(29193278-29198499)
    2(28683631-28688289)


    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)
    About This Section
    Paralogs for ATAD3C gene
    ATAD3B2  ATAD3A2  PSMC32  
    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, 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

    10/527 NCBI SNPs in ATAD3C are shown (see all 527    About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 1 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    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
    --1383587(+) TGAGGC/TTTGGC 1 -- us2k10--------
    rs760726721,2
    C--1383725(+) GATCTC/TGGCTC 1 -- us2k10--------
    rs783310811,2
    C--1383732(+) GCTCAC/TTGCAG 1 -- us2k10--------
    rs1906339991,2
    --1383751(+) TCCTGA/CGTTTA 1 -- us2k10--------

    HapMap Linkage Disequilibrium report for ATAD3C (1385069 - 1405538 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 2 variations for ATAD3C
         2 CNVs: 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

    ATAD3C for disorders           About GeneDecksing

    1 disease for ATAD3C:    About MalaCards
    malaria


    Export disorders for ATAD3C 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 ATAD3C gene integrated from 9 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. (2004)
    2. [ATAD3, a vital membrane-bound mitochondrial ATPase in volved in tumor progression]. (PubMed id 22192748)1 Li S. and Rousseau D. (2011)
    3. The DNA sequence and biological annotation of human chromosome 1. (PubMed id 16710414)2 Gregory S.G.... Bentley D.R. (2006)
    4. 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. (2004)
    5. 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. (2002)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     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)
    About This Section
    Entrez Gene: 219293 HGNC: 32151 AceView: ATAD3AandATAD3BandFLJ37183 Ensembl:ENSG00000215915 euGenes: HUgn219293
    ECgene: ATAD3C H-InvDB: ATAD3C

    (According to HUGE)
    About This Section
      --

    (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 ATAD3C 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 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, 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
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    About This Section

     
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    GeneCards Homepage - Last full update: 18 Mar 2013 - Incrementals: 21 Mar 2013 , 15 Apr 2013 , 26 Apr 2013

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    VWF
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    von Willebrand factor
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