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

Gene ID: 84896, updated on 3-Apr-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 binding activity and transmembrane protein dislocase 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, Apr 2022]
Expression
Ubiquitous expression in testis (RPKM 11.5), heart (RPKM 11.1) and 25 other tissues See more
Orthologs
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Genomic context

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Location:
10q23.31
Exon count:
18
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 10 NC_000010.11 (87751512..87841361, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 10 NC_060934.1 (88635419..88725279, complement)
105.20220307 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. Neonatal Hypertonia and Progressive Respiratory Failure due to Novel Heterozygous Mutation in ATAD1. Craddock KE, et al. Pediatr Neurol, 2023 May. PMID 36933275
  2. 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
  3. Sorting out how Msp1 maintains mitochondrial membrane proteostasis. Fresenius HL, et al. Mitochondrion, 2019 Nov. PMID 31394253
  4. 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
  5. CircRNA circ-ATAD1 suppresses miR-618 maturation to participate in colorectal cancer. Cao L, et al. BMC Gastroenterol, 2022 May 3. PMID 35505304, Free PMC Article

See all (62) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. 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.
  2. 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.
  3. 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.
  4. 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.
  5. 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.
  6. 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.
  7. Sorting out how Msp1 maintains mitochondrial membrane proteostasis.
    Title: Sorting out how Msp1 maintains mitochondrial membrane proteostasis.
  8. 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.
  9. 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.
  10. Observational study of gene-disease association. (HuGE Navigator)
    Title: Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.
Submit: New GeneRIF Correction

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)

Genotypes

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 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_2023_10

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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