Endometriosis Knowledgebase

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Gene id

55210

Gene Summary Protein Summary Gene ontology KEGG pathways Diseases PubMed references

Gene Summary

Gene Symbol

ATAD3A Gene UCSC Ensembl

Aliases

HAYOS

Gene name

ATPase family, AAA domain containing 3A

Alternate names

ATPase family AAA domain-containing protein 3A,

Gene location

1p36.33 (1512142: 1534686) Exons: 18 NC_000001.11

Gene summary(Entrez)

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]

OMIM

612316

Protein Summary

Protein general information

Q9NVI7

Name: ATPase family AAA domain containing protein 3A

Length: 634 Mass: 71,369

Tissue specificity: Overexpressed in lung adenocarcinomas (at protein level). {ECO

Sequence

MSWLFGINKGPKGEGAGPPPPLPPAQPGAEGGGDRGLGDRPAPKDKWSNFDPTGLERAAKAARELEHSRYAKDAL
NLAQMQEQTLQLEQQSKLKMRLEALSLLHTLVWAWSLCRAGAVQTQERLSGSASPEQVPAGECCALQEYEAAVEQ
LKSEQIRAQAEERRKTLSEETRQHQARAQYQDKLARQRYEDQLKQQQLLNEENLRKQEESVQKQEAMRRATVERE
MELRHKNEMLRVEAEARARAKAERENADIIREQIRLKAAEHRQTVLESIRTAGTLFGEGFRAFVTDWDKVTATVA
GLTLLAVGVYSAKNATLVAGRFIEARLGKPSLVRETSRITVLEALRHPIQVSRRLLSRPQDALEGVVLSPSLEAR
VRDIAIATRNTKKNRSLYRNILMYGPPGTGKTLFAKKLALHSGMDYAIMTGGDVAPMGREGVTAMHKLFDWANTS
RRGLLLFVDEADAFLRKRATEKISEDLRATLNAFLYRTGQHSNKFMLVLASNQPEQFDWAINDRINEMVHFDLPG
QEERERLVRMYFDKYVLKPATEGKQRLKLAQFDYGRKCSEVARLTEGMSGREIAQLAVSWQATAYASEDGVLTEA
MMDTRVQDAVQQHQQKMCWLKAEGPGRGDEPSPS

Structural information

Interpro:	IPR003593 IPR003959 IPR021911 IPR027417
Pfam:	PF00004 PF12037
DIP:	33194
MINT:	1148423
STRING:	ENSP00000368030;

Other Databases

GeneCards: ATAD3A; Malacards: ATAD3A

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005524	ATP binding	IEA	molecular_function
GO:0005739	mitochondrion	IDA	cellular_component
GO:0005743	mitochondrial inner membr ane	IEA	cellular_component
GO:0016021	integral component of mem brane	IEA	cellular_component
GO:0016049	cell growth	IMP	biological_process
GO:0042645	mitochondrial nucleoid	IEA	cellular_component
GO:0043066	negative regulation of ap optotic process	IMP	biological_process
GO:0000166	nucleotide binding	IEA	molecular_function
GO:0005524	ATP binding	IEA	molecular_function
GO:0005524	ATP binding	IEA	molecular_function
GO:0005739	mitochondrion	IEA	cellular_component
GO:0005739	mitochondrion	IDA	cellular_component
GO:0005743	mitochondrial inner membr ane	IEA	cellular_component
GO:0005743	mitochondrial inner membr ane	IEA	cellular_component
GO:0016020	membrane	IEA	cellular_component
GO:0016021	integral component of mem brane	IEA	cellular_component
GO:0016049	cell growth	IMP	biological_process
GO:0042645	mitochondrial nucleoid	IEA	cellular_component
GO:0042645	mitochondrial nucleoid	IEA	cellular_component
GO:0043066	negative regulation of ap optotic process	IMP	biological_process
GO:0005739	mitochondrion	IDA	cellular_component
GO:0016049	cell growth	IMP	biological_process
GO:0043066	negative regulation of ap optotic process	IMP	biological_process

Diseases

Associated diseases	References
Endometriosis	PMID: 22276910
Harel-Yoon syndrome	OMIM: 612316
Endometriosis	INFBASE22276910

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes	Abstract
22276910	Endometrio sis			100 (50 endomet riosis, 50 cont rols)		COX-2 BRAF NRAS CFL1 MAT2A SEPT9 ATAD3A CADM2 NAA15 and CCDC21	Show abstract