Aliases for ATAD3C Gene

Aliases for ATAD3C Gene

  • ATPase Family AAA Domain Containing 3C 2 3 5
  • ATPase Family AAA Domain-Containing Protein 3C 3 4
  • ATPase Family, AAA Domain Containing 3A 3

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 Pontocerebellar Hypoplasia, Type 4 and Pontocerebellar Hypoplasia, Type 3. 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 Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification 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
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH01J001461 Promoter/Enhancer 1.5 EPDnew Ensembl ENCODE 500.4 +21.2 21174 1.1 ZBTB40 POLR2G POLR2A MYC TCF12 USF1 TFDP1 ZNF207 SAP130 NBN ATAD3C LINC01770 VWA1 ATAD3B
GH01J001440 Enhancer 1.3 Ensembl ENCODE dbSUPER 532.5 +0.2 199 2.2 CTCF POLR2G ZIC2 ZBTB10 GABPA TARDBP REST KLF7 TOE1 MYC ATAD3C MRPL20 MXRA8 VWA1 ATAD3B
GH01J001439 Enhancer 0.6 Ensembl dbSUPER 524.1 -1.6 -1600 0.6 BCL11B AGO2 RBFOX2 ATAD3C ANKRD65 VWA1
GH01J001428 Promoter/Enhancer 2.6 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 27.7 -7.8 -7825 10.5 EP300 FOXK2 HNRNPK ZNF217 NRF1 POLR2G NCOR1 ZFX ZIC2 KDM6A VWA1 LINC01770 CDK11A ENSG00000230092 CCNL2 ENSG00000269737 ATAD3B RER1 ATAD3C SDF4
GH01J001425 Promoter/Enhancer 1.8 Ensembl ENCODE CraniofacialAtlas dbSUPER 18.5 -14.5 -14490 2.8 HNRNPK POLR2G ZNF10 ZIC2 TCF7 KLF7 TGIF2 ZBTB7A PCBP1 WT1 TMEM88B lnc-ANKRD65-1 lnc-TMEM88B-1 ATAD3C ANKRD65 LINC01770
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around ATAD3C on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for ATAD3C

Top Transcription factor binding sites by QIAGEN in the ATAD3C gene promoter:
  • AML1a
  • Arnt
  • ARP-1
  • Bach1
  • C/EBPalpha
  • GR
  • HEN1
  • NRF-2
  • Pax-6
  • XBP-1

Genomic Locations for ATAD3C Gene

Genomic Locations for ATAD3C Gene
chr1:1,441,301-1,470,163
(GRCh38/hg38)
Size:
28,863 bases
Orientation:
Plus strand
chr1:1,385,069-1,405,538
(GRCh37/hg19)
Size:
20,470 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};

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

HGNC:
Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for ATAD3C Gene

Suggested Antigen Peptide Sequences for ATAD3C Gene

GenScript: Design optimal peptide antigens:
  • ATPase family AAA domain-containing protein 3C (ATD3C_HUMAN)

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

Phenotypes From GWAS Catalog for ATAD3C Gene

Gene Ontology (GO) - Molecular Function for ATAD3C Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005524 ATP binding IEA --
GO:0008270 zinc ion binding IBA 21873635
genes like me logo Genes that share ontologies with ATAD3C: view
genes like me logo Genes that share phenotypes with ATAD3C: view

Clone 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 4
cytosol 2
peroxisome 1
nucleus 1
endoplasmic reticulum 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 IEA,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

PathCards logo

SuperPathways for ATAD3C Gene

No Data Available

Gene Ontology (GO) - Biological Process for ATAD3C Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007005 mitochondrion organization IBA,IEA 21873635
genes like me logo Genes that share ontologies with ATAD3C: view

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

1 REFSEQ mRNAs :
5 NCBI additional mRNA sequence :
3 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

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
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 and MOPED for ATAD3C Gene



Protein tissue co-expression partners for ATAD3C Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for ATAD3C

SOURCE GeneReport for Unigene cluster for ATAD3C Gene:

Hs.724767

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
chimpanzee
(Pan troglodytes)
Mammalia ATAD3C 31 30
  • 97.08 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Atad3a 31
  • 58 (a)
OneToMany
dog
(Canis familiaris)
Mammalia ATAD3A 31
  • 58 (a)
OneToMany
cow
(Bos Taurus)
Mammalia ATAD3 31
  • 58 (a)
OneToMany
oppossum
(Monodelphis domestica)
Mammalia -- 31
  • 50 (a)
OneToMany
platypus
(Ornithorhynchus anatinus)
Mammalia -- 31
  • 35 (a)
OneToMany
chicken
(Gallus gallus)
Aves -- 31
  • 53 (a)
OneToMany
lizard
(Anolis carolinensis)
Reptilia -- 31
  • 75 (a)
OneToMany
zebrafish
(Danio rerio)
Actinopterygii atad3b 31
  • 16 (a)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta bor 31
  • 41 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea atad-3 31
  • 38 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea CSA.6689 31
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for ATAD3C: view image

Paralogs for ATAD3C Gene

Paralogs for ATAD3C Gene

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

  • ATD3C_HUMAN
  • J3QSF3_HUMAN
genes like me logo Genes that share paralogs with ATAD3C: view

Variants for ATAD3C Gene

Additional dbSNP identifiers (rs#s) for ATAD3C Gene

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
ATAD3C

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for ATAD3C Gene

Disorders for ATAD3C Gene

MalaCards: The human disease database

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

- 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 54
  2. VIRMA mediates preferential m6A mRNA methylation in 3'UTR and near stop codon and associates with alternative polyadenylation. (PMID: 29507755) Yue Y … Liu J (Cell discovery 2018) 3 54
  3. The HIV-1 Tat protein recruits a ubiquitin ligase to reorganize the 7SK snRNP for transcriptional activation. (PMID: 29845934) Faust TB … Frankel AD (eLife 2018) 3 54
  4. An AP-MS- and BioID-compatible MAC-tag enables comprehensive mapping of protein interactions and subcellular localizations. (PMID: 29568061) Liu X … Varjosalo M (Nature communications 2018) 3 54
  5. Estrogen-regulated feedback loop limits the efficacy of estrogen receptor-targeted breast cancer therapy. (PMID: 29987050) Xiao T … Brown M (Proceedings of the National Academy of Sciences of the United States of America 2018) 3 54

Products for ATAD3C Gene

Sources for ATAD3C Gene