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Aliases for ATAD1 Gene

Aliases for ATAD1 Gene

  • ATPase Family, AAA Domain Containing 1 2 3 5
  • Thorase 2 3 4
  • ATPase Family AAA Domain-Containing Protein 1 3
  • EC 3.6.1.3 4
  • FNP001 3
  • AFDC1 3

External Ids for ATAD1 Gene

Previous GeneCards Identifiers for ATAD1 Gene

  • GC10M089178
  • GC10M089502
  • GC10M083148

Summaries for ATAD1 Gene

GeneCards Summary for ATAD1 Gene

ATAD1 (ATPase Family, AAA Domain Containing 1) is a Protein Coding gene. Gene Ontology (GO) annotations related to this gene include ATPase activity and microtubule-severing ATPase activity.

UniProtKB/Swiss-Prot for ATAD1 Gene

  • ATPase that plays a critical role in regulating the surface expression of AMPA receptors (AMPAR), thereby regulating synaptic plasticity and learning and memory. Required for NMDA-stimulated AMPAR internalization and inhibition of GRIA1 and GRIA2 recycling back to the plasma membrane; these activities are ATPase-dependent (By similarity).

Additional gene information for ATAD1 Gene

No data available for Entrez Gene Summary , CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ATAD1 Gene

Genomics for ATAD1 Gene

GeneHancer (GH) Regulatory Elements for ATAD1 Gene

Promoters and enhancers for ATAD1 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
GH10I087815 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE 567.9 +24.0 24021 4.4 HDGF PKNOX1 SMAD1 ARID4B SIN3A YY1 SLC30A9 POLR2B ZNF213 ZNF207 ATAD1 CFL1P1 GC10P087816 GC10M087815
GH10I087585 Enhancer 1 ENCODE 13 +255.0 254969 2.6 PKNOX1 SMAD1 FEZF1 YY1 FOS ZNF214 KLF13 YY2 REST ZNF662 ENSG00000272631 CFL1P1 NUTM2A LINC00863 FAM35A ATAD1 BMPR1A BMS1P3 NUTM2A-AS1 GC10P087578
GH10I087740 Enhancer 1.2 FANTOM5 Ensembl ENCODE 6.6 +100.7 100749 0.8 FOXA2 JUN MAX RAD21 RFX5 YY1 FOSL2 FOS RXRA CEBPB ENSG00000196566 PAPSS2 ATAD1 PIR53011 GC10M087750
GH10I087761 Enhancer 1.1 Ensembl ENCODE 6.8 +79.4 79420 0.5 PKNOX1 FEZF1 ZNF48 ZNF2 ZNF213 FOS SP3 JUNB TSHZ1 ZNF518A ATAD1 GC10M087750 GC10P087816
GH10I087734 Enhancer 0.9 Ensembl ENCODE 7.2 +106.3 106290 1.4 CTCF MZF1 ZIC2 RAD21 PATZ1 ZNF143 SMC3 ZSCAN29 MIXL1 ZNF654 PAPSS2 ENSG00000196566 ATAD1 RPL11P3 PIR53011 GC10P087721 GC10M087750
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around ATAD1 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the ATAD1 gene promoter:

Genomic Locations for ATAD1 Gene

Genomic Locations for ATAD1 Gene
chr10:87,751,512-87,841,349
(GRCh38/hg38)
Size:
89,838 bases
Orientation:
Minus strand
chr10:89,511,269-89,601,100
(GRCh37/hg19)

Genomic View for ATAD1 Gene

Genes around ATAD1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ATAD1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ATAD1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ATAD1 Gene

Proteins for ATAD1 Gene

  • Protein details for ATAD1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8NBU5-ATAD1_HUMAN
    Recommended name:
    ATPase family AAA domain-containing protein 1
    Protein Accession:
    Q8NBU5
    Secondary Accessions:
    • D3DR26
    • Q6DKG1
    • Q6P4B9
    • Q8N3G1
    • Q8WYR9
    • Q969Y3

    Protein attributes for ATAD1 Gene

    Size:
    361 amino acids
    Molecular mass:
    40744 Da
    Quaternary structure:
    • Interacts with GRIA2 and GRIP1 in an ATP-dependent manner. ATAD1-catalyzed ATP hydrolysis disrupts not only its binding to GRIA2 and GRIP1, but also interaction between GRIP1 and GRIA2, leading to AMPAR complex disassembly (By similarity).

    Alternative splice isoforms for ATAD1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for ATAD1 Gene

Post-translational modifications for ATAD1 Gene

  • Ubiquitination at posLast=4646, Lys263, and posLast=274274

No data available for DME Specific Peptides for ATAD1 Gene

Domains & Families for ATAD1 Gene

Gene Families for ATAD1 Gene

HGNC:
Human Protein Atlas (HPA):
  • Enzymes
  • Predicted membrane proteins

Protein Domains for ATAD1 Gene

Graphical View of Domain Structure for InterPro Entry

Q8NBU5

UniProtKB/Swiss-Prot:

ATAD1_HUMAN :
  • Belongs to the AAA ATPase family.
Family:
  • Belongs to the AAA ATPase family.
genes like me logo Genes that share domains with ATAD1: view

Function for ATAD1 Gene

Molecular function for ATAD1 Gene

UniProtKB/Swiss-Prot CatalyticActivity:
ATP + H(2)O = ADP + phosphate.
UniProtKB/Swiss-Prot Function:
ATPase that plays a critical role in regulating the surface expression of AMPA receptors (AMPAR), thereby regulating synaptic plasticity and learning and memory. Required for NMDA-stimulated AMPAR internalization and inhibition of GRIA1 and GRIA2 recycling back to the plasma membrane; these activities are ATPase-dependent (By similarity).

Enzyme Numbers (IUBMB) for ATAD1 Gene

Phenotypes From GWAS Catalog for ATAD1 Gene

Gene Ontology (GO) - Molecular Function for ATAD1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005524 ATP binding IEA --
GO:0016787 hydrolase activity IEA --
GO:0016887 ATPase activity ISS,IBA --
genes like me logo Genes that share ontologies with ATAD1: view
genes like me logo Genes that share phenotypes with ATAD1: view

Animal Models for ATAD1 Gene

MGI Knock Outs for ATAD1:

Animal Model Products

CRISPR Products

Inhibitory RNA Products

No data available for Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for ATAD1 Gene

Localization for ATAD1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for ATAD1 Gene

Peroxisome. Cell junction, synapse, postsynaptic cell membrane.

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 ATAD1 gene
Compartment Confidence
plasma membrane 5
peroxisome 5
mitochondrion 4
nucleus 4
cytosol 3
extracellular 1
endoplasmic reticulum 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Mitochondria (2)
  • Nucleoli (2)
  • Nucleus (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for ATAD1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IBA --
GO:0005739 mitochondrion IEA --
GO:0005777 peroxisome IEA --
GO:0005778 peroxisomal membrane IDA,HDA 21525035
GO:0005886 plasma membrane IEA --
genes like me logo Genes that share ontologies with ATAD1: view

Pathways & Interactions for ATAD1 Gene

SuperPathways for ATAD1 Gene

No Data Available

Gene Ontology (GO) - Biological Process for ATAD1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0002092 positive regulation of receptor internalization ISS --
GO:0007612 learning ISS --
GO:0007613 memory ISS --
GO:0051967 negative regulation of synaptic transmission, glutamatergic ISS --
genes like me logo Genes that share ontologies with ATAD1: view

No data available for Pathways by source and SIGNOR curated interactions for ATAD1 Gene

Drugs & Compounds for ATAD1 Gene

(3) Drugs for ATAD1 Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Phosphoric acid Approved Pharma 0
Water Approved Pharma 0
ATP Investigational Nutra Agonist 0

(1) Additional Compounds for ATAD1 Gene - From: HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
ADP
  • Adenosindiphosphorsaeure
  • Adenosine 5'-pyrophosphate
  • Adenosine diphosphate
  • Adenosine pyrophosphate
  • Adenosine-5'-diphosphate
Full agonist, Agonist 58-64-0
genes like me logo Genes that share compounds with ATAD1: view

Transcripts for ATAD1 Gene

Unigene Clusters for ATAD1 Gene

ATPase family, AAA domain containing 1:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Alternative Splicing Database (ASD) splice patterns (SP) for ATAD1 Gene

ExUns: 1a · 1b · 1c ^ 2 ^ 3 ^ 4a · 4b · 4c ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11
SP1: -
SP2: -
SP3:
SP4:

Relevant External Links for ATAD1 Gene

GeneLoc Exon Structure for
ATAD1
ECgene alternative splicing isoforms for
ATAD1

Expression for ATAD1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for ATAD1 Gene

Protein differential expression in normal tissues from HIPED for ATAD1 Gene

This gene is overexpressed in Nasal epithelium (24.1).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for ATAD1 Gene



Protein tissue co-expression partners for ATAD1 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of ATAD1 Gene:

ATAD1

SOURCE GeneReport for Unigene cluster for ATAD1 Gene:

Hs.435948

Evidence on tissue expression from TISSUES for ATAD1 Gene

  • Nervous system(4.8)
  • Liver(4.2)
  • Lung(4.2)
  • Bone(4)
genes like me logo Genes that share expression patterns with ATAD1: view

Primer Products

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 ATAD1 Gene

Orthologs for ATAD1 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for ATAD1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia ATAD1 33 34
  • 100 (n)
cow
(Bos Taurus)
Mammalia ATAD1 33 34
  • 95.11 (n)
dog
(Canis familiaris)
Mammalia ATAD1 33 34
  • 93.81 (n)
mouse
(Mus musculus)
Mammalia Atad1 33 16 34
  • 92.15 (n)
rat
(Rattus norvegicus)
Mammalia Atad1 33
  • 91.87 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia ATAD1 34
  • 81 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia ATAD1 34
  • 68 (a)
OneToOne
chicken
(Gallus gallus)
Aves ATAD1 33 34
  • 83.1 (n)
lizard
(Anolis carolinensis)
Reptilia ATAD1 34
  • 92 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia atad1 33
  • 76.48 (n)
zebrafish
(Danio rerio)
Actinopterygii atad1b 33 34
  • 74.14 (n)
fruit fly
(Drosophila melanogaster)
Insecta nmd 33 34
  • 57.74 (n)
CG4701 34
  • 47 (a)
OneToMany
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP009625 33
  • 57.54 (n)
worm
(Caenorhabditis elegans)
Secernentea mspn-1 34
  • 50 (a)
OneToOne
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0B06094g 33
  • 56.45 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes MSP1 33 34 36
  • 53.74 (n)
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_ABR036W 33
  • 51.15 (n)
thale cress
(Arabidopsis thaliana)
eudicotyledons AT4G27680 33
  • 53.33 (n)
rice
(Oryza sativa)
Liliopsida Os06g0714500 33
  • 49.19 (n)
bread mold
(Neurospora crassa)
Ascomycetes NCU07988 33
  • 54.3 (n)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes SPCC24B10.10c 33
  • 52.1 (n)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.11054 34
  • 48 (a)
OneToOne
Species where no ortholog for ATAD1 was found in the sources mined by GeneCards:
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • 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)
  • 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)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for ATAD1 Gene

ENSEMBL:
Gene Tree for ATAD1 (if available)
TreeFam:
Gene Tree for ATAD1 (if available)

Paralogs for ATAD1 Gene

(12) SIMAP similar genes for ATAD1 Gene using alignment to 2 proteins:

Pseudogenes.org Pseudogenes for ATAD1 Gene

genes like me logo Genes that share paralogs with ATAD1: view

No data available for Paralogs for ATAD1 Gene

Variants for ATAD1 Gene

Sequence variations from dbSNP and Humsavar for ATAD1 Gene

SNP ID Clin Chr 10 pos Variation AA Info Type
VAR_035903 A colorectal cancer sample p.Val107Ile
rs1000056315 -- 87,832,529(-) G/C genic_upstream_transcript_variant, intron_variant
rs1000088095 -- 87,807,908(-) C/T genic_upstream_transcript_variant, intron_variant
rs1000091820 -- 87,840,086(-) T/G genic_upstream_transcript_variant, intron_variant
rs1000104125 -- 87,790,108(-) G/A intron_variant

Structural Variations from Database of Genomic Variants (DGV) for ATAD1 Gene

Variant ID Type Subtype PubMed ID
esv1509111 CNV deletion 17803354
esv2254676 CNV deletion 18987734
esv3546636 CNV deletion 23714750
nsv1041462 CNV gain 25217958
nsv1137945 CNV deletion 24896259
nsv518233 CNV loss 19592680
nsv950989 CNV duplication 24416366
nsv975800 CNV duplication 23825009

Variation tolerance for ATAD1 Gene

Residual Variation Intolerance Score: 28.8% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.40; 8.86% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for ATAD1 Gene

Human Gene Mutation Database (HGMD)
ATAD1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
ATAD1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ATAD1 Gene

Disorders for ATAD1 Gene

Additional Disease Information for ATAD1

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology

No disorders were found for ATAD1 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for ATAD1 Gene

Publications for ATAD1 Gene

  1. Msp1/ATAD1 maintains mitochondrial function by facilitating the degradation of mislocalized tail-anchored proteins. (PMID: 24843043) Chen YC … Rutter J (The EMBO journal 2014) 2 3 58
  2. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose JE … Uhl GR (Molecular medicine (Cambridge, Mass.) 2010) 3 44 58
  3. Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression. (PMID: 20877624) Hendrickson SL … O'Brien SJ (PloS one 2010) 3 44 58
  4. A scan of chromosome 10 identifies a novel locus showing strong association with late-onset Alzheimer disease. (PMID: 16385451) Grupe A … Goate A (American journal of human genetics 2006) 3 44 58
  5. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 58

Products for ATAD1 Gene

Sources for ATAD1 Gene

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