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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. GO annotations related to this gene include four-way junction helicase activity. An important paralog of this gene is ATAD3B.

No data available for Entrez Gene 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

Regulatory Elements for ATAD3C Gene

Enhancers for ATAD3C Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH01F001428 1.5 FANTOM5 ENCODE 27.6 -9.0 -8998 8.2 HDGF ZFP64 ARID4B SIN3A DMAP1 ZNF2 YY1 SLC30A9 KLF13 PAF1 ATAD3C ANKRD65 ATAD3B VWA1 LOC100129381 RNF223 TMEM88B DVL1 NADK LINC01770
GH01F001440 1 ENCODE 32.6 -0.2 -178 1.1 HDGF ATF1 PKNOX1 CREB3L1 MLX ZFP64 ARID4B DMAP1 ZNF48 ZNF2 ATAD3C LINC01770 ENSG00000240731 CCNL2 VWA1
GH01F001437 0.9 ENCODE 25.4 -3.1 -3139 1.1 ELF3 TBP ARID4B THRB ZNF48 RAD21 DNMT3B RARA YY1 MIXL1 ATAD3C MRPL20 VWA1
GH01F001470 1.2 ENCODE 14.1 +30.4 30393 3.0 HDGF PKNOX1 MLX ARNT CREB3L1 ZFP64 ARID4B SIN3A DMAP1 ZNF2 LINC01770 ATAD3C ANKRD65 ENSG00000240731 CCNL2 ENSG00000272455 SSU72 ATAD3B GC01P001458
GH01F001397 1.2 ENCODE 12.3 -41.2 -41188 5.5 HDGF PKNOX1 CREB3L1 MLX ARID4B SIN3A DMAP1 ZNF2 YY1 SLC30A9 ANKRD65 ATAD3C LINC01770 PUSL1 MRPL20 ATAD3B SSU72 AURKAIP1 LOC148413 RN7SL657P
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around ATAD3C on UCSC Golden Path with GeneCards custom track

Genomic Location for ATAD3C Gene

Chromosome:
1
Start:
1,441,301 bp from pter
End:
1,470,158 bp from pter
Size:
28,858 bases
Orientation:
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:
    Q5T2N8-ATD3C_HUMAN
    Recommended name:
    ATPase family AAA domain-containing protein 3C
    Protein Accession:
    Q5T2N8
    Secondary Accessions:
    • Q8N1Z5

    Protein attributes for ATAD3C Gene

    Size:
    411 amino acids
    Molecular mass:
    46380 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • 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

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

Q5T2N8

UniProtKB/Swiss-Prot:

ATD3C_HUMAN :
  • Belongs to the AAA ATPase family.
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

Animal Model Products

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

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

Localization for ATAD3C Gene

Subcellular locations from

COMPARTMENTS
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
endoplasmic reticulum 1

No data available for Subcellular locations from UniProtKB/Swiss-Prot and Gene Ontology (GO) - Cellular Components for ATAD3C Gene

Pathways & Interactions for ATAD3C Gene

SuperPathways for ATAD3C Gene

No Data Available

Interacting Proteins for ATAD3C Gene

Gene Ontology (GO) - Biological Process for ATAD3C Gene

None

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

Transcripts for ATAD3C Gene

mRNA/cDNA for ATAD3C Gene

Unigene Clusters for ATAD3C Gene

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

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

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

No ASD Table

Relevant External Links for ATAD3C Gene

GeneLoc Exon Structure for
ATAD3C
ECgene alternative splicing isoforms for
ATAD3C

Expression for ATAD3C Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and 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:

ATAD3C

SOURCE GeneReport for Unigene cluster for ATAD3C Gene:

Hs.724767
genes like me logo Genes that share expression patterns with ATAD3C: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt 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
chimpanzee
(Pan troglodytes)
Mammalia ATAD3C 34 35
  • 97.08 (n)
cow
(Bos Taurus)
Mammalia ATAD3 35
  • 58 (a)
OneToMany
dog
(Canis familiaris)
Mammalia ATAD3A 35
  • 58 (a)
OneToMany
mouse
(Mus musculus)
Mammalia Atad3a 35
  • 58 (a)
OneToMany
oppossum
(Monodelphis domestica)
Mammalia -- 35
  • 50 (a)
OneToMany
platypus
(Ornithorhynchus anatinus)
Mammalia -- 35
  • 35 (a)
OneToMany
chicken
(Gallus gallus)
Aves -- 35
  • 53 (a)
OneToMany
lizard
(Anolis carolinensis)
Reptilia -- 35
  • 75 (a)
OneToMany
zebrafish
(Danio rerio)
Actinopterygii atad3b 35
  • 16 (a)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta bor 35
  • 41 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea atad-3 35
  • 38 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea CSA.6689 35
  • 45 (a)
OneToMany
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

ENSEMBL:
Gene Tree for ATAD3C (if available)
TreeFam:
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 Sequence Context AA Info Type
rs111237704 -- 1,451,885(+) CCGGC(C/T)GATGT intron-variant
rs111261418 -- 1,470,196(+) TGCAC(A/G)TGACA downstream-variant-500B, upstream-variant-2KB
rs111262777 -- 1,466,001(+) ATCAT(A/C)AAAGT intron-variant
rs111266121 -- 1,461,682(+) CATGT(A/C/G)GGGAC intron-variant
rs111356400 -- 1,462,302(+) TTGCT(A/G)GAACT intron-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)

Relevant External Links for ATAD3C Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
ATAD3C

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
  • branchiootic syndrome 1
- elite association - COSMIC cancer census association via MalaCards

Relevant External Links for ATAD3C

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
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. (Nat. Genet. 2004) 3 4 64
  2. 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 F.M. (Mol. Cell Proteomics 2015) 3 64
  3. The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin E.L. … Gygi S.P. (Cell 2015) 3 64
  4. Interlaboratory reproducibility of large-scale human protein-complex analysis by standardized AP-MS. (PMID: 23455922) Varjosalo M. … Superti-Furga G. (Nat. Methods 2013) 3 64
  5. [ATAD3, a vital membrane-bound mitochondrial ATPase involved in tumor progression]. (PMID: 22192748) Li S. … Rousseau D. (Med Sci (Paris) 2011) 3 64

Products for ATAD3C Gene

Sources for ATAD3C Gene

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