ATAD1
Outer mitochondrial transmembrane helix translocase
Also known as: ATAD1_HUMAN, FLJ14600, Msp1
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- Q8NBU5
- Gene
- ATAD1
- Ensembl
- ENSG00000138138
- Chromosome
- 10
- Canonical length
- 361 aa
- Protein class
- Disease related genes, Human disease related genes, Predicted membrane proteins
- Subcellular location
- Nucleoli rim,Mitochondria
OverviewNCBI Gene
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, Jul 2025]
Canonical amino-acid sequenceUniProt
361 residues, UniProt reviewed canonical sequence.
>Q8NBU5|ATAD1
1 MVHAEAFSRP LSRNEVVGLI FRLTIFGAVT YFTIKWMVDA IDPTRKQKVE AQKQAEKLMK
61 QIGVKNVKLS EYEMSIAAHL VDPLNMHVTW SDIAGLDDVI TDLKDTVILP IKKKHLFENS
121 RLLQPPKGVL LYGPPGCGKT LIAKATAKEA GCRFINLQPS TLTDKWYGES QKLAAAVFSL
181 AIKLQPSIIF IDEIDSFLRN RSSSDHEATA MMKAQFMSLW DGLDTDHSCQ VIVMGATNRP
241 QDLDSAIMRR MPTRFHINQP ALKQREAILK LILKNENVDR HVDLLEVAQE TDGFSGSDLK
301 EMCRDAALLC VREYVNSTSE ESHDEDEIRP VQQQDLHRAI EKMKKSKDAA FQNVLTHVCL
361 DLocalizationUniProt · AlphaFold · HPA
Whether an antibody against ATAD1 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.
- Antibody reachability
- Cell surface
- Secreted
- No
- Transmembrane segments
- 1
- Mean surface accessibility (rSASA)
- 0.33
- Highest tissue expression
- 33 nTPM
Expression across tissuesHPA
Tissue
- skeletal muscle: 33 nTPM
- heart muscle: 32 nTPM
- tongue: 30 nTPM
- parathyroid gland: 27 nTPM
- retina: 26 nTPM
- testis: 24 nTPM
Single-cell type
- late spermatids: 2,786 nCPM
- early spermatids: 1,075 nCPM
- late primary spermatocytes: 418 nCPM
- epicardial cells: 136 nCPM
- cardiomyocytes: 132 nCPM
- syncytiotrophoblasts: 127 nCPM
Immune cell
- MAIT T-cell: 10 nTPM
- naive CD4 T-cell: 9.1 nTPM
- naive CD8 T-cell: 8.6 nTPM
- NK-cell: 8.6 nTPM
- basophil: 8.4 nTPM
- memory CD8 T-cell: 8.3 nTPM
Brain region
- midbrain: 15 nTPM
- hypothalamus: 15 nTPM
- cerebellum: 15 nTPM
- cerebral cortex: 14 nTPM
- pons: 14 nTPM
- thalamus: 14 nTPM
DiseaseUniProt · ClinVar · IEDB · PubMed
Four sources answering four different questions about ATAD1.
Disease | AllUniProt
Conditions ATAD1 is implicated in, by any mechanism.
- Hyperekplexia 4 (HKPX4) MIM:618011
Disease | GeneticClinVar
3 pathogenic / likely-pathogenic of 214 ClinVar records.
Conditions with pathogenic or likely-pathogenic variants.
- Hyperekplexia 4
Genetic constraint and essentialitygnomAD · DepMap
Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.
- gnomAD LOEUF (loss-of-function intolerance)
- 0.75
- gnomAD pLI
- 0
- gnomAD missense Z
- 2.1
- DepMap mean gene effect
- -0.13
- DepMap dependency class
- selective
Cancer expressionTCGA
Across TCGA tumor cohorts, this protein is over-expressed in roughly 3% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).
OntologyGO
Biological processes
- learning
- memory
- negative regulation of synaptic transmission, glutamatergic
- positive regulation of receptor internalization
- regulation of postsynaptic neurotransmitter receptor internalization
- extraction of mislocalized protein from mitochondrial outer membrane
Molecular functions
Cellular components
Protein domainsUniProt · Pfam · InterPro
KeywordsUniProt
InteractionsUniProt · HPA
Protein binding partners of ATAD1 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.
Antibody and autoantibody relevanceSeroatlas analysis
Seroatlas reads ATAD1 as an antibody target. Whether an autoantibody or antibody against ATAD1 could matter depends on whether native ATAD1 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
ATAD1 is annotated at the cell surface, where native ATAD1 is exposed to circulating antibodies and is a prime autoantibody target that could block, deplete, or overstimulate it.
Annotation status
The present source text does not explicitly label ATAD1 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
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