ATAD3A - ATPase family AAA domain containing 3A Gene

Also Known as HAYOS; PHRINL

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 55210

About ATAD3A

Cytogenetic location: 1p36.33 Genomic coordinates (GRCh38): 1:1,512,162-1,534,685 (from NCBI)

This gene has 8 transcripts (splice variants), 226 orthologues, 2 paralogues and is associated with 4 phenotypes. Ubiquitous expression in bone marrow (RPKM 6.3), testis (RPKM 6.2) and 25 other tissues.

Summary

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]

ATAD3A Products (3)

mRNA	Protein	Name
NM_001170535.3	NP_001164006.1	ATPase family AAA domain-containing protein 3A isoform 2
NM_001170536.3	NP_001164007.1	ATPase family AAA domain-containing protein 3A isoform 3
NM_018188.5	NP_060658.3	ATPase family AAA domain-containing protein 3A isoform 1

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
enables identical protein binding	IPI IPI: Inferred from physical interaction	30914652	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	22664726	GOA

Biological Process GO Annotation	Evidence	References	Source
involved in DNA damage response	IDA IDA: Inferred from direct assay	37832546	GOA
acts upstream of HRI-mediated signaling	IDA IDA: Inferred from direct assay	37832546	GOA
involved in antiviral innate immune response	IMP IMP: Inferred from mutant phenotype	31522117	GOA
involved in negative regulation of apoptotic process	IMP IMP: Inferred from mutant phenotype	20332122	GOA
involved in regulation of cell growth	IMP IMP: Inferred from mutant phenotype	20332122	GOA

Cellular Component GO Annotation	Evidence	References	Source
located in mitochondrial inner membrane	IDA IDA: Inferred from direct assay	20349121	GOA
located in mitochondrion	IDA IDA: Inferred from direct assay	20332122	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

ATAD3A Protein Structure

DUF3523

AAA

0
100
200
300
400
500
600
634 a.a.

Protein Preferred Names	Protein Names
ATPase family AAA domain-containing protein 3A

ATAD3A Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
Intra	ATAD3A	Q9NVI7	HSPD1	Homo sapiens	P10809	Anti Bait CoIP	22664726

Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases	Alias
Harel-Yoon Syndrome	HAYOS Ocular Anomalies-Axonal Neuropathy-Developmental Delay Syndrome
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal	PHRINL Phrinl Syndrome Lethal Pontocerebellar Hypoplasia-Hypotonia-Respiratory Insufficiency Syndrome Due To Biallelic Deletions In The Atad3 Gene Cluster Lethal 1p36.33 Deletion Syndrome Lethal Pontocerebellar Hypoplasia-Hypotonia-Respiratory Insufficiency Syndrome Due To A Point Mutation Lethal Pontocerebellar Hypoplasia-Hypotonia-Respiratory Insufficiency Syndrome Fatal Pontocerebellar Hypoplasia-Hypotonia-Respiratory Distress Syndrome Fatal Pontocerebellar Hypoplasia-Hypotonia-Respiratory Insufficiency Syndrome
Cerebellar Hypoplasia/Atrophy, Epilepsy, And Global Developmental Delay	CHEGDD
Axonal Neuropathy
Pontocerebellar Hypoplasia	Pch Congenital Pontocerebellar Hypoplasia Opch Hypoplasia, Pontocerebellar Pontoneocerebellar Hypoplasia Nonsyndromic Pontocerebellar Hypoplasia
Treacher Collins Syndrome 3	TCS3 Mandibulofacial Dysostosis, Treacher Collins Type, Autosomal Recessive Mandibulofacial Dysostosis Treacher Collins Type Autosomal Recessive
Lissencephaly 6	Lis6
Hereditary Spastic Paraplegia	Familial Spastic Paraplegia Hereditary Spastic Paraparesis Strumpell-Lorrain Disease Familial Spastic Paraparesis Hsp Spg Strümpell-Lorrain Disease Spastic Paraplegia, Hereditary French Settlement Disease Strumpell-Lorrain Syndrome Fsp Spastic Paraplegia, Familial Spastic Paraplegia Hereditary Spastic Paraplegia 3, Autosomal Dominant Spastic Paraparesis Hereditary Spastic Paralysis Familial Spastic Paralysis Hereditary Spastic Ataxia
Hypertrophic Cardiomyopathy	Hypertrophic Obstructive Cardiomyopathy Cardiomyopathy, Hypertrophic Cardiomyopathy Hypertrophic Obstructive Cardiomyopathy, Hypertrophic, Familial Idiopathic Myocardial Hypertrophy Idiopathic Hypertrophic Cardiomyopathy Obstructive Idiopathic Hypertrophic Cardiomyopathy Obstructive Cardiomyopathy Idiopathic Hypertrophic Subaortic Stenosis Muscular Subaortic Stenosis Hypertrophic Obstructive Subaortic Stenosis
Dyskinetic Cerebral Palsy	Athetoid Cerebral Palsy Athetoid Dyskinetic Cerebral Palsy Cerebral Palsy Athetoid Cerebral Palsy Dyskinetic Athetoid Cerebral Paralysis Dyskinetic Cerebral Paralysis Vogt Disease Athetoid Cerebrum Palsy Double Athetosis Syndrome État Marbré
Chromosome 1p36 Deletion Syndrome	1p36 Deletion Syndrome Deletion 1p36 Monosomy 1p36 Subtelomeric 1p36 Deletion Monosomy 1p36 Syndrome Distal Monosomy 1p36 Del(1)(P36) Deletion 1pter Monosomy 1pter
Hypotonia
Fetal Akinesia Deformation Sequence 1	Fetal Akinesia Deformation Sequence Fads Fetal Akinesia Sequence FADS1 Arthrogryposis Multiplex Congenita With Pulmonary Hypoplasia Pena-Shokeir Syndrome Type 1 Fetal Akinesia Deformation Sequence Syndrome Arthrogryposis Multiplex Congenita-Pulmonary Hypoplasia Syndrome Arthrogryposis Multiplex Congenita Pulmonary Hypoplasia Pena-Shokeir Syndrome, Type I Foetal Akinesia Deformation Sequence Syndrome Foetal Akinesia Sequence Fetal Akinesia Deformation Sequence Syndrome 1 Pena-Shokeir Syndrome, Type 1 Pena Shokeir Syndrome, Type 1 Akinesia, Fetal, Deformation Sequence Akinesia, Fetal, Deformation Sequence, Type 1 Pena-Shokeir Syndrome Type I
Breast Cancer	Breast Carcinoma Male Breast Cancer Breast Cancer, Familial Malignant Neoplasm Of Breast Breast Cancer, Susceptibility To Breast Cancer, Early-Onset Malignant Tumor Of Breast Carcinoma Of Male Breast Breast Cancer, Invasive Ductal Breast Cancer, Protection Against Breast Cancer, Somatic Breast Cancer, Male Breast Cancer, Lobular, Somatic Breast Tumor Mammary Cancer Mammary Tumor Malignant Neoplasm Of Male Breast Mammary Carcinoma Male Breast Carcinoma Familial Cancer Of Breast Invasive Ductal Breast Carcinoma Breast Cancer Susceptibility Breast Cancer, Male, Susceptibility To Breast Cancer, Early-Onset, Susceptibility To Malignant Tumor Of The Breast Mammary Neoplasm Primary Breast Cancer Neoplasm Of Male Breast Carcinoma Of Breast Breast Cancer In Men Familial Breast Cancer Cancer Of Breast BC Breast Cancer Familial Breast Cancer Familial Male Breast Cancer, Familial Male Breast Male Carcinoma Breast Neoplasms Breast Neoplasms, Male Mammary Tumors Mammary Carcinomas Cancer, Breast Cancer, Breast, Susceptibility Invasive Breast Ductal Carcinoma Breast Neoplasm Susceptibility To Breast Cancer Mammary Neoplasms Animal Mammary Neoplasms Primary Malignant Neoplasm Of Breast Infiltrating Ductal Carcinoma Of Breast Infiltrating Duct Carcinoma Of Unspecified Site Infiltrating Ductular Carcinoma Of Unspecified Site Invasive Breast Carcinoma Of No Special Type Microinvasive Carcinoma Of Breast Carcinoma With Apocrine Differentiation

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (6)

Cat. No.	상품명	효과	Purity	Rare Diseases
HY-P10414A	Klotho-derived peptide 1 hydrochloride	Inhibitor	99.67%	Unkown
HY-RS01121	ATAD3A Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-P10326	Z-ATAD-FMK	Inhibitor	/	Unkown
HY-P10414	Klotho-derived peptide 1	Inhibitor	/	Unkown
HY-RS21096	Atad3a Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS27614	Atad3a Rat Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Mus musculus	ATAD3A	MGD	MGI:1919214
Rattus norvegicus	ATAD3A	RGD	RGD:1305964