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Aliases for ATAD3C Gene

Aliases for ATAD3C Gene

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

External Ids for ATAD3C Gene

Previous GeneCards Identifiers for ATAD3C Gene

  • GC01P001471
  • GC01P001375
  • GC01P001376
  • GC01P000662
  • GC01P001385

Summaries for ATAD3C Gene

GeneCards Summary for ATAD3C Gene

ATAD3C (ATPase Family, AAA Domain Containing 3C) is a Protein Coding gene. Diseases associated with ATAD3C include Branchiootic Syndrome. Gene Ontology (GO) annotations related to this gene include four-way junction helicase activity. An important paralog of this gene is ATAD3B.

Additional gene information for ATAD3C Gene

No data available for Entrez Gene Summary , CIViC summary , UniProtKB/Swiss-Prot , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ATAD3C Gene

Genomics for ATAD3C Gene

GeneHancer (GH) Regulatory Elements for ATAD3C Gene

Promoters and enhancers for ATAD3C Gene
GeneHancer (GH) Identifier GH Type GH
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH01I001440 Enhancer 1.1 ENCODE dbSUPER 582.6 -0.2 -178 1.1 HDGF ATF1 MLX ZFP64 ARID4B SIN3A DMAP1 ZNF2 ZBTB7B ZNF48 ATAD3C CDK11A ENSG00000230092 UBE2J2 ATAD3B RER1 INTS11 ENSG00000237094 CDK11B CCNL2
GH01I001442 Enhancer 0.5 ENCODE dbSUPER 550.8 +0.9 936 0.1 ZNF341 ATAD3C VWA1 GC01P001458
GH01I001428 Promoter/Enhancer 2.6 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 27.7 -9.0 -8991 8.2 HDGF FOXA2 ZFP64 ARID4B SIN3A DMAP1 ZNF2 YY1 SLC30A9 FOS VWA1 ATAD3C ANKRD65 ATAD3B LOC100129381 RNF223 TMEM88B DVL1 NADK LINC01770
GH01I001470 Promoter/Enhancer 2 EPDnew Ensembl ENCODE 14.2 +30.4 30407 3 ZFP64 ARID4B SIN3A DMAP1 ZNF2 POLR2B ZNF213 E2F8 ZNF143 FOS ATAD3B GC01M001453 CDK11A ENSG00000230092 LOC100288379 ATAD3C ENSG00000237094 RER1 SDF4 CCNL2
GH01I001397 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 12.3 -41.2 -41187 5.5 MLX DMAP1 YY1 SLC30A9 ZNF213 E2F8 ZNF143 SP3 NFYC SSRP1 CCNL2 LOC148413 INTS11 ATAD3B ENSG00000240731 LOC100288379 ENSG00000230092 CDK11A SLC35E2 LOC100129381
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around ATAD3C on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the ATAD3C gene promoter:

Genomic Locations for ATAD3C Gene

Genomic Locations for ATAD3C Gene
28,858 bases
Plus strand

Genomic View for ATAD3C Gene

Genes around ATAD3C on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ATAD3C Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ATAD3C Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ATAD3C Gene

Proteins for ATAD3C Gene

  • Protein details for ATAD3C Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    ATPase family AAA domain-containing protein 3C
    Protein Accession:
    Secondary Accessions:
    • Q8N1Z5

    Protein attributes for ATAD3C Gene

    411 amino acids
    Molecular mass:
    46380 Da
    Quaternary structure:
    No Data Available
    • Sequence=AAI01212.1; Type=Erroneous translation; Note=Wrong choice of frame.; Evidence={ECO:0000305}; Sequence=AAI01213.1; Type=Erroneous translation; Note=Wrong choice of frame.; Evidence={ECO:0000305}; Sequence=BAC04369.1; Type=Erroneous translation; Note=Wrong choice of frame.; Evidence={ECO:0000305}; Sequence=CAI22067.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305}; Sequence=CAI22656.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305};

neXtProt entry for ATAD3C Gene

Post-translational modifications for ATAD3C Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for ATAD3C Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for ATAD3C Gene

Domains & Families for ATAD3C Gene

Gene Families for ATAD3C Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for ATAD3C Gene

Suggested Antigen Peptide Sequences for ATAD3C Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry



  • Belongs to the AAA ATPase family.
  • Belongs to the AAA ATPase family.
genes like me logo Genes that share domains with ATAD3C: view

Function for ATAD3C Gene

Gene Ontology (GO) - Molecular Function for ATAD3C Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005524 ATP binding IEA --
genes like me logo Genes that share ontologies with ATAD3C: view

Phenotypes for ATAD3C Gene

genes like me logo Genes that share phenotypes with ATAD3C: view

Clone Products

No data available for Molecular function , Enzyme Numbers (IUBMB) , Phenotypes From GWAS Catalog , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for ATAD3C Gene

Localization for ATAD3C Gene

Subcellular locations from

Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for ATAD3C gene
Compartment Confidence
mitochondrion 5
nucleus 2
cytosol 2
peroxisome 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for ATAD3C Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005739 mitochondrion IDA --
genes like me logo Genes that share ontologies with ATAD3C: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot for ATAD3C Gene

Pathways & Interactions for ATAD3C Gene

SuperPathways for ATAD3C Gene

No Data Available

Gene Ontology (GO) - Biological Process for ATAD3C Gene


No data available for Pathways by source and SIGNOR curated interactions for ATAD3C Gene

Drugs & Compounds for ATAD3C Gene

No Compound Related Data Available

Transcripts for ATAD3C Gene

mRNA/cDNA for ATAD3C Gene

Unigene Clusters for ATAD3C Gene

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

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for ATAD3C Gene

No ASD Table

Relevant External Links for ATAD3C Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for ATAD3C Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for ATAD3C Gene

Protein differential expression in normal tissues from HIPED for ATAD3C Gene

This gene is overexpressed in Saliva (43.0) and Brain (19.7).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for ATAD3C Gene

Protein tissue co-expression partners for ATAD3C Gene

NURSA nuclear receptor signaling pathways regulating expression of ATAD3C Gene:


SOURCE GeneReport for Unigene cluster for ATAD3C Gene:


Evidence on tissue expression from TISSUES for ATAD3C Gene

  • Nervous system(4.2)
  • Kidney(4.1)
genes like me logo Genes that share expression patterns with ATAD3C: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for ATAD3C Gene

Orthologs for ATAD3C Gene

This gene was present in the common ancestor of animals.

Orthologs for ATAD3C Gene

Organism Taxonomy Gene Similarity Type Details
(Pan troglodytes)
Mammalia ATAD3C 33 34
  • 97.08 (n)
(Bos Taurus)
Mammalia ATAD3 34
  • 58 (a)
(Canis familiaris)
Mammalia ATAD3A 34
  • 58 (a)
(Mus musculus)
Mammalia Atad3a 34
  • 58 (a)
(Monodelphis domestica)
Mammalia -- 34
  • 50 (a)
(Ornithorhynchus anatinus)
Mammalia -- 34
  • 35 (a)
(Gallus gallus)
Aves -- 34
  • 53 (a)
(Anolis carolinensis)
Reptilia -- 34
  • 75 (a)
(Danio rerio)
Actinopterygii atad3b 34
  • 16 (a)
fruit fly
(Drosophila melanogaster)
Insecta bor 34
  • 41 (a)
(Caenorhabditis elegans)
Secernentea atad-3 34
  • 38 (a)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.6689 34
  • 45 (a)
Species where no ortholog for ATAD3C was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • 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)
  • rat (Rattus norvegicus)
  • rice (Oryza sativa)
  • 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)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)

Evolution for ATAD3C Gene

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

Paralogs for ATAD3C Gene

Paralogs for ATAD3C Gene

(3) SIMAP similar genes for ATAD3C Gene using alignment to 2 proteins:

genes like me logo Genes that share paralogs with ATAD3C: view

Variants for ATAD3C Gene

Sequence variations from dbSNP and Humsavar for ATAD3C Gene

SNP ID Clin Chr 01 pos Variation AA Info Type
rs1000047313 -- 1,450,019(+) G/A 5_prime_UTR_variant
rs1000156470 -- 1,452,581(+) G/A intron_variant
rs1000252541 -- 1,462,147(+) C/A intron_variant
rs1000444576 -- 1,452,978(+) G/A intron_variant
rs1000446269 -- 1,450,619(+) C/ 5_prime_UTR_variant

Structural Variations from Database of Genomic Variants (DGV) for ATAD3C Gene

Variant ID Type Subtype PubMed ID
dgv1e212 CNV loss 25503493
dgv1e214 CNV loss 21293372
dgv2e212 CNV loss 25503493
dgv34n54 CNV loss 21841781
esv2662001 CNV deletion 23128226
esv2758913 CNV gain+loss 17122850
esv3548565 CNV deletion 23714750
esv3577672 CNV loss 25503493
esv3584995 CNV loss 21293372
esv3584998 CNV gain 21293372
esv3584999 CNV loss 21293372
nsv1009541 CNV gain 25217958
nsv1011818 CNV gain 25217958
nsv10161 CNV gain+loss 18304495
nsv1074040 CNV deletion 25765185
nsv482135 CNV gain 20164927
nsv482937 CNV loss 15286789
nsv545000 CNV loss 21841781
nsv545001 CNV loss 21841781
nsv945742 CNV duplication 23825009
nsv950452 CNV deletion 24416366

Variation tolerance for ATAD3C Gene

Residual Variation Intolerance Score: 98.8% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 12.24; 94.03% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for ATAD3C Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ATAD3C Gene

Disorders for ATAD3C Gene

MalaCards: The human disease database

(1) MalaCards diseases for ATAD3C Gene - From: DISEASES

Disorder Aliases PubMed IDs
branchiootic syndrome
  • bo syndrome
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for ATAD3C

genes like me logo Genes that share disorders with ATAD3C: view

No data available for UniProtKB/Swiss-Prot and Genatlas for ATAD3C Gene

Publications for ATAD3C Gene

  1. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 58
  2. Architecture of the human interactome defines protein communities and disease networks. (PMID: 28514442) Huttlin EL … Harper JW (Nature 2017) 3 58
  3. ATAD3 gene cluster deletions cause cerebellar dysfunction associated with altered mitochondrial DNA and cholesterol metabolism. (PMID: 28549128) Desai R … Spinazzola A (Brain : a journal of neurology 2017) 3 58
  4. Quantitative Proteomics Reveals Dynamic Interactions of the Minichromosome Maintenance Complex (MCM) in the Cellular Response to Etoposide Induced DNA Damage. (PMID: 25963833) Drissi R … Boisvert FM (Molecular & cellular proteomics : MCP 2015) 3 58
  5. The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin EL … Gygi SP (Cell 2015) 3 58

Products for ATAD3C Gene

Sources for ATAD3C Gene

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