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    ATAD1 ATPase family AAA domain containing 1 [ Homo sapiens (human) ]

    Gene ID: 84896, updated on 27-Nov-2024

    Summary

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    Official Symbol
    ATAD1provided by HGNC
    Official Full Name
    ATPase family AAA domain containing 1provided by HGNC
    Primary source
    HGNC:HGNC:25903
    See related
    Ensembl:ENSG00000138138 MIM:614452; AllianceGenome:HGNC:25903
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    Msp1; AFDC1; HKPX4; FNP001; hATAD1; THORASE
    Summary
    Predicted to enable ATP hydrolysis activity. Involved in extraction of mislocalized protein from mitochondrial outer membrane. Located in mitochondrial outer membrane and peroxisomal membrane. Implicated in hyperekplexia 4. [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Ubiquitous expression in testis (RPKM 11.5), heart (RPKM 11.1) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See ATAD1 in Genome Data Viewer
    Location:
    10q23.31
    Exon count:
    18
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 10 NC_000010.11 (87751512..87841361, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 10 NC_060934.1 (88635419..88725279, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 10 NC_000010.10 (89511269..89577983, complement)

    Chromosome 10 - NC_000010.11Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2583 Neighboring gene ribosomal protein S26 pseudogene 38 Neighboring gene 3'-phosphoadenosine 5'-phosphosulfate synthase 2 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:89503239-89503738 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3712 Neighboring gene ReSE screen-validated silencer GRCh37_chr10:89526475-89526686 Neighboring gene uncharacterized LOC124902476 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2584 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3713 Neighboring gene Sharpr-MPRA regulatory region 3344 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr10:89602409-89603608 Neighboring gene cofilin 1 pseudogene 1 Neighboring gene RNA, 7SL, cytoplasmic 78, pseudogene Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3714 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3715 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3716 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2585 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2586 Neighboring gene killin, p53 regulated DNA replication inhibitor Neighboring gene phosphatase and tensin homolog Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2587 Neighboring gene ribosomal protein L11 pseudogene 3

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    Related articles in PubMed

    1. ATAD1 prevents clogging of TOM and damage caused by un-imported mitochondrial proteins. Kim J, et al. Cell Rep, 2024 Aug 27. PMID 39024102
    2. ATAD1 inhibits hepatitis C virus infection by removing the viral TA-protein NS5B from mitochondria. Zhou Q, et al. EMBO Rep, 2023 Nov 6. PMID 37789674, Free PMC Article
    3. Neonatal Hypertonia and Progressive Respiratory Failure due to Novel Heterozygous Mutation in ATAD1. Craddock KE, et al. Pediatr Neurol, 2023 May. PMID 36933275
    4. Collateral deletion of the mitochondrial AAA+ ATPase ATAD1 sensitizes cancer cells to proteasome dysfunction. Winter JM, et al. Elife, 2022 Nov 21. PMID 36409067, Free PMC Article
    5. A homozygous ATAD1 mutation impairs postsynaptic AMPA receptor trafficking and causes a lethal encephalopathy. Piard J, et al. Brain, 2018 Mar 1. PMID 29390050, Free PMC Article

    See all (68) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. ATAD1 prevents clogging of TOM and damage caused by un-imported mitochondrial proteins.
      Title: ATAD1 prevents clogging of TOM and damage caused by un-imported mitochondrial proteins.
    2. ATAD1 inhibits hepatitis C virus infection by removing the viral TA-protein NS5B from mitochondria.
      Title: ATAD1 inhibits hepatitis C virus infection by removing the viral TA-protein NS5B from mitochondria.
    3. Neonatal Hypertonia and Progressive Respiratory Failure due to Novel Heterozygous Mutation in ATAD1.
      Title: Neonatal Hypertonia and Progressive Respiratory Failure due to Novel Heterozygous Mutation in ATAD1.
    4. Collateral deletion of the mitochondrial AAA+ ATPase ATAD1 sensitizes cancer cells to proteasome dysfunction.
      Title: Collateral deletion of the mitochondrial AAA+ ATPase ATAD1 sensitizes cancer cells to proteasome dysfunction.
    5. CircRNA circ-ATAD1 suppresses miR-618 maturation to participate in colorectal cancer.
      Title: CircRNA circ-ATAD1 suppresses miR-618 maturation to participate in colorectal cancer.
    6. Circ-ATAD1 is overexpressed in osteosarcoma (OS) and suppresses the maturation of miR-154-5p to increase cell invasion and migration.
      Title: Circ-ATAD1 is overexpressed in osteosarcoma (OS) and suppresses the maturation of miR-154-5p to increase cell invasion and migration.
    7. CircRNA circ-ATAD1 Is Upregulated in Cervical Squamous Cell Carcinoma and Regulates Cell Proliferation and Apoptosis by Suppressing the Maturation of miR-218.
      Title: CircRNA circ-ATAD1 Is Upregulated in Cervical Squamous Cell Carcinoma and Regulates Cell Proliferation and Apoptosis by Suppressing the Maturation of miR-218.
    8. Sorting out how Msp1 maintains mitochondrial membrane proteostasis.
      Title: Sorting out how Msp1 maintains mitochondrial membrane proteostasis.
    9. This study showed that the molecular and functional analyses identify an activating ATAD1 mutation as a new cause of severe encephalopathy and congenital stiffness.
      Title: A homozygous ATAD1 mutation impairs postsynaptic AMPA receptor trafficking and causes a lethal encephalopathy.
    10. Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
      Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
    Submit: New GeneRIF Correction See all GeneRIFs (11)

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Associated conditions

    Description Tests
    Hyperekplexia 4
    MedGen: C4693933 OMIM: 618011 GeneReviews: Not available
    		Compare labs

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • FLJ14600

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables ATP binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables ATP hydrolysis activity ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    enables membrane protein dislocase activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    Process Evidence Code Pubs
    involved_in extraction of mislocalized protein from mitochondrial outer membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in extraction of mislocalized protein from mitochondrial outer membrane IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in learning ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in memory ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in negative regulation of synaptic transmission, glutamatergic ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in positive regulation of receptor internalization ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in regulation of postsynaptic neurotransmitter receptor internalization IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    located_in cytosol TAS
    Traceable Author Statement
    more info
    		  
    located_in glutamatergic synapse IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in membrane HDA PubMed 
    is_active_in mitochondrial outer membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in mitochondrial outer membrane IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in mitochondrion HTP PubMed 
    located_in peroxisomal membrane HDA PubMed 
    located_in peroxisomal membrane IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in peroxisomal membrane TAS
    Traceable Author Statement
    more info
    		  
    located_in postsynaptic membrane ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  

    General protein information

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    Preferred Names
    outer mitochondrial transmembrane helix translocase
    Names
    ATPase family AAA domain-containing protein 1
    NP_001308896.1
    NP_001308897.1
    NP_001308898.1
    NP_116199.2
    XP_005270309.1
    XP_011538604.1
    XP_011538605.1
    XP_016872336.1
    XP_016872337.1
    XP_016872340.1
    XP_047281864.1
    XP_047281866.1
    XP_047281867.1
    XP_047281868.1
    XP_047281869.1
    XP_047281870.1
    XP_047281871.1
    XP_054222996.1
    XP_054222997.1
    XP_054222998.1
    XP_054222999.1
    XP_054223000.1
    XP_054223001.1
    XP_054223002.1
    XP_054223003.1
    XP_054223004.1
    XP_054223005.1
    XP_054223006.1
    XP_054223007.1

    NCBI Reference Sequences (RefSeq)

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    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_001321967.2 → NP_001308896.1  outer mitochondrial transmembrane helix translocase isoform 1

      Status: VALIDATED

      Source sequence(s)
      AC022016, AL133327
      Consensus CDS
      CCDS7386.1
      UniProtKB/Swiss-Prot
      D3DR26, Q6DKG1, Q6P4B9, Q8N3G1, Q8NBU5, Q8WYR9, Q969Y3
      Related
      ENSP00000506333.1, ENST00000680024.1
      Conserved Domains (2) summary
      pfam17862
      Location:282 → 321
      AAA_lid_3; AAA+ lid domain
      cd19520
      Location:92 → 257
      RecA-like_ATAD1; ATPase domain of ATPase family AAA domain-containing protein 1 and similar ATPase domains

    2. NM_001321968.2 → NP_001308897.1  outer mitochondrial transmembrane helix translocase isoform 2

      Status: VALIDATED

      Source sequence(s)
      AC022016, AL133327
      Conserved Domains (2) summary
      pfam17862
      Location:252 → 291
      AAA_lid_3; AAA+ lid domain
      cl38936
      Location:92 → 232
      P-loop_NTPase; P-loop containing Nucleoside Triphosphate Hydrolases

    3. NM_001321969.2 → NP_001308898.1  outer mitochondrial transmembrane helix translocase isoform 3

      Status: VALIDATED

      Source sequence(s)
      AC022016, AL133327
      Conserved Domains (1) summary
      COG0464
      Location:8 → 229
      SpoVK; AAA+-type ATPase, SpoVK/Ycf46/Vps4 family [Cell wall/membrane/envelope biogenesis, Cell cycle control, cell division, chromosome partitioning, Signal transduction mechanisms]

    4. NM_032810.4 → NP_116199.2  outer mitochondrial transmembrane helix translocase isoform 1

      See identical proteins and their annotated locations for NP_116199.2

      Status: VALIDATED

      Source sequence(s)
      AC022016, AK075223, AL133327
      Consensus CDS
      CCDS7386.1
      UniProtKB/Swiss-Prot
      D3DR26, Q6DKG1, Q6P4B9, Q8N3G1, Q8NBU5, Q8WYR9, Q969Y3
      Related
      ENSP00000339017.4, ENST00000308448.11
      Conserved Domains (2) summary
      pfam17862
      Location:282 → 321
      AAA_lid_3; AAA+ lid domain
      cd19520
      Location:92 → 257
      RecA-like_ATAD1; ATPase domain of ATPase family AAA domain-containing protein 1 and similar ATPase domains

    RNA

    1. NR_135914.2 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AC022016, AL133327
      Related
      ENST00000681308.1

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000010.11 Reference GRCh38.p14 Primary Assembly

      Range
      87751512..87841361 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_005270252.6 → XP_005270309.1  outer mitochondrial transmembrane helix translocase isoform X1

      See identical proteins and their annotated locations for XP_005270309.1

      UniProtKB/Swiss-Prot
      D3DR26, Q6DKG1, Q6P4B9, Q8N3G1, Q8NBU5, Q8WYR9, Q969Y3
      Conserved Domains (2) summary
      pfam17862
      Location:282 → 321
      AAA_lid_3; AAA+ lid domain
      cd19520
      Location:92 → 257
      RecA-like_ATAD1; ATPase domain of ATPase family AAA domain-containing protein 1 and similar ATPase domains

    2. XM_047425908.1 → XP_047281864.1  outer mitochondrial transmembrane helix translocase isoform X1

      UniProtKB/Swiss-Prot
      D3DR26, Q6DKG1, Q6P4B9, Q8N3G1, Q8NBU5, Q8WYR9, Q969Y3

    3. XM_017016847.3 → XP_016872336.1  outer mitochondrial transmembrane helix translocase isoform X1

      UniProtKB/Swiss-Prot
      D3DR26, Q6DKG1, Q6P4B9, Q8N3G1, Q8NBU5, Q8WYR9, Q969Y3
      Conserved Domains (2) summary
      pfam17862
      Location:282 → 321
      AAA_lid_3; AAA+ lid domain
      cd19520
      Location:92 → 257
      RecA-like_ATAD1; ATPase domain of ATPase family AAA domain-containing protein 1 and similar ATPase domains

    4. XM_017016848.2 → XP_016872337.1  outer mitochondrial transmembrane helix translocase isoform X1

      Conserved Domains (2) summary
      pfam17862
      Location:252 → 291
      AAA_lid_3; AAA+ lid domain
      cl38936
      Location:92 → 232
      P-loop_NTPase; P-loop containing Nucleoside Triphosphate Hydrolases

    5. XM_011540302.2 → XP_011538604.1  outer mitochondrial transmembrane helix translocase isoform X2

      See identical proteins and their annotated locations for XP_011538604.1

      Conserved Domains (2) summary
      pfam17862
      Location:224 → 263
      AAA_lid_3; AAA+ lid domain
      cd19520
      Location:34 → 199
      RecA-like_ATAD1; ATPase domain of ATPase family AAA domain-containing protein 1 and similar ATPase domains

    6. XM_047425911.1 → XP_047281867.1  outer mitochondrial transmembrane helix translocase isoform X3

      UniProtKB/TrEMBL
      A0A7P0T9U2
      Related
      ENSP00000505894.1, ENST00000680388.1

    7. XM_047425912.1 → XP_047281868.1  outer mitochondrial transmembrane helix translocase isoform X3

      UniProtKB/TrEMBL
      A0A7P0T9U2

    8. XM_047425913.1 → XP_047281869.1  outer mitochondrial transmembrane helix translocase isoform X4

    9. XM_011540303.4 → XP_011538605.1  outer mitochondrial transmembrane helix translocase isoform X3

      UniProtKB/TrEMBL
      A0A7P0T9U2, A0A7P0TAM5
      Conserved Domains (2) summary
      smart00382
      Location:125 → 254
      AAA; ATPases associated with a variety of cellular activities
      pfam00004
      Location:129 → 257
      AAA; ATPase family associated with various cellular activities (AAA)

    10. XM_047425910.1 → XP_047281866.1  outer mitochondrial transmembrane helix translocase isoform X3

      UniProtKB/TrEMBL
      A0A7P0T9U2

    11. XM_047425915.1 → XP_047281871.1  outer mitochondrial transmembrane helix translocase isoform X5

      UniProtKB/TrEMBL
      A0A7P0T9B4
      Related
      ENSP00000505593.1, ENST00000681602.1

    12. XM_017016851.3 → XP_016872340.1  outer mitochondrial transmembrane helix translocase isoform X5

      UniProtKB/TrEMBL
      A0A7P0T7Z9, A0A7P0T9B4

    13. XM_047425914.1 → XP_047281870.1  outer mitochondrial transmembrane helix translocase isoform X5

      UniProtKB/TrEMBL
      A0A7P0T9B4

    Reference GRCh38.p14 PATCHES

    Genomic

    1. NW_013171807.1 Reference GRCh38.p14 PATCHES

      Range
      292..34048 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060934.1 Alternate T2T-CHM13v2.0

      Range
      88635419..88725279 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054367022.1 → XP_054222997.1  outer mitochondrial transmembrane helix translocase isoform X1

      UniProtKB/Swiss-Prot
      D3DR26, Q6DKG1, Q6P4B9, Q8N3G1, Q8NBU5, Q8WYR9, Q969Y3

    2. XM_054367021.1 → XP_054222996.1  outer mitochondrial transmembrane helix translocase isoform X1

      UniProtKB/Swiss-Prot
      D3DR26, Q6DKG1, Q6P4B9, Q8N3G1, Q8NBU5, Q8WYR9, Q969Y3

    3. XM_054367023.1 → XP_054222998.1  outer mitochondrial transmembrane helix translocase isoform X1

    4. XM_054367024.1 → XP_054222999.1  outer mitochondrial transmembrane helix translocase isoform X2

    5. XM_054367028.1 → XP_054223003.1  outer mitochondrial transmembrane helix translocase isoform X3

      UniProtKB/TrEMBL
      A0A7P0T9U2

    6. XM_054367027.1 → XP_054223002.1  outer mitochondrial transmembrane helix translocase isoform X3

      UniProtKB/TrEMBL
      A0A7P0T9U2

    7. XM_054367029.1 → XP_054223004.1  outer mitochondrial transmembrane helix translocase isoform X4

    8. XM_054367025.1 → XP_054223000.1  outer mitochondrial transmembrane helix translocase isoform X3

      UniProtKB/TrEMBL
      A0A7P0T9U2

    9. XM_054367026.1 → XP_054223001.1  outer mitochondrial transmembrane helix translocase isoform X3

      UniProtKB/TrEMBL
      A0A7P0T9U2

    10. XM_054367030.1 → XP_054223005.1  outer mitochondrial transmembrane helix translocase isoform X5

      UniProtKB/TrEMBL
      A0A7P0T9B4

    11. XM_054367032.1 → XP_054223007.1  outer mitochondrial transmembrane helix translocase isoform X5

      UniProtKB/TrEMBL
      A0A7P0T9B4

    12. XM_054367031.1 → XP_054223006.1  outer mitochondrial transmembrane helix translocase isoform X5

      UniProtKB/TrEMBL
      A0A7P0T9B4
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q8NBU5.1 GenPept UniProtKB/Swiss-Prot:Q8NBU5

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