ATAD3A

Protein identityUniProt · HPA

UniProt accession

Q9NVI7

Gene

ATAD3A

Ensembl

ENSG00000197785

Chromosome

1

Canonical length

586 aa

Protein class

Disease related genes, Human disease related genes, Predicted intracellular proteins

Subcellular location

Mitochondria,Acrosome

Quaternary structure

Homodimer

OverviewNCBI Gene

This gene encodes a ubiquitously expressed mitochondrial membrane protein that contributes to mitochondrial dynamics, nucleoid organization, protein translation, cell growth, and cholesterol metabolism. This gene is a member of the ATPase family AAA-domain containing 3 gene family which, in humans, includes two other paralogs. Naturally occurring mutations in this gene are associated with distinct neurological syndromes including Harel-Yoon syndrome. High-level expression of this gene is associated with poor survival in breast cancer patients. A homozygous knockout of the orthologous gene in mice results in embryonic lethality at day 7.5 due to growth retardation and defective development of the trophoblast lineage. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2017]

Canonical amino-acid sequenceUniProt

586 residues, UniProt reviewed canonical sequence.

>Q9NVI7|ATAD3A
     1  MSWLFGINKG PKGEGAGPPP PLPPAQPGAE GGGDRGLGDR PAPKDKWSNF DPTGLERAAK
    61  AARELEHSRY AKDALNLAQM QEQTLQLEQQ SKLKEYEAAV EQLKSEQIRA QAEERRKTLS
   121  EETRQHQARA QYQDKLARQR YEDQLKQQQL LNEENLRKQE ESVQKQEAMR RATVEREMEL
   181  RHKNEMLRVE AEARARAKAE RENADIIREQ IRLKAAEHRQ TVLESIRTAG TLFGEGFRAF
   241  VTDWDKVTAT VAGLTLLAVG VYSAKNATLV AGRFIEARLG KPSLVRETSR ITVLEALRHP
   301  IQVSRRLLSR PQDALEGVVL SPSLEARVRD IAIATRNTKK NRSLYRNILM YGPPGTGKTL
   361  FAKKLALHSG MDYAIMTGGD VAPMGREGVT AMHKLFDWAN TSRRGLLLFV DEADAFLRKR
   421  ATEKISEDLR ATLNAFLYRT GQHSNKFMLV LASNQPEQFD WAINDRINEM VHFDLPGQEE
   481  RERLVRMYFD KYVLKPATEG KQRLKLAQFD YGRKCSEVAR LTEGMSGREI AQLAVSWQAT
   541  AYASEDGVLT EAMMDTRVQD AVQQHQQKMC WLKAEGPGRG DEPSPS

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against ATAD3A 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

Other membrane

Secreted

No

Transmembrane segments

1

Mean surface accessibility (rSASA)

0.41

Highest tissue expression

32 nTPM

Expression across tissuesHPA

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about ATAD3A.

Disease | AllUniProt

Conditions ATAD3A is implicated in, by any mechanism.

• Harel-Yoon syndrome (HAYOS) MIM:617183
• Pontocerebellar hypoplasia, hypotonia, and respiratory insufficiency syndrome, neonatal lethal (PHRINL) MIM:618810

Disease | GeneticClinVar

27 pathogenic / likely-pathogenic of 449 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

• Harel-Yoon syndrome
• Pontocerebellar hypoplasia, hypotonia, and respiratory insufficiency syndrome, neonatal lethal
• ATAD3A-related mitochondrial disorders
• Congenital cerebellar hypoplasia
• ATAD3A deficiency

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)

0.83

gnomAD pLI

0

gnomAD missense Z

0.01

DepMap mean gene effect

-0.04

DepMap dependency class

selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 6% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

• antiviral innate immune response
• DNA damage response
• HRI-mediated signaling
• mitochondrion organization
• negative regulation of apoptotic process
• negative regulation of PERK-mediated unfolded protein response
• regulation of cell growth

Molecular functions

• ATP binding
• ATP hydrolysis activity
• identical protein binding
• protein serine/threonine kinase inhibitor activity

Cellular components

• mitochondria-associated endoplasmic reticulum membrane contact site
• mitochondrial inner membrane
• mitochondrial nucleoid
• mitochondrion

Protein domainsUniProt · Pfam · InterPro

• AAA+ ATPase domain
• ATPase, AAA-type, core
• ATPase family AAA domain-containing protein 3, N-terminal
• P-loop containing nucleoside triphosphate hydrolase
• ATPase family associated with various cellular activities (AAA)
• ATPase family AAA domain-containing protein 3, N-terminal

KeywordsUniProt

• Acetylation
• ATP-binding
• Coiled coil
• Hydrolase
• Membrane
• Mitochondrion
• Mitochondrion inner membrane
• Mitochondrion nucleoid
• Nucleotide-binding
• Phosphoprotein
• Transmembrane
• Transmembrane helix

InteractionsUniProt · HPA

Protein binding partners of ATAD3A in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

• CLPB
• GADD45GIP1
• S100B
• EIF2AK3
• FAM210A
• STARD9
• HSPD1