ATAD1 - ATPase family AAA domain containing 1 Gene

Homo sapiens

Also known as Msp1; AFDC1; HKPX4; FNP001; hATAD1; THORASE

Gene ID: 84896 | Gene type: protein coding

About ATAD1

Cytogenetic location: 10q23.31 Genomic coordinates (GRCh38): 10:87,751,512-87,841,361 (from NCBI)

This gene has 8 transcripts (splice variants), 1 gene allele, 274 orthologues, 9 paralogues and is associated with 2 phenotypes. Ubiquitous expression in testis (RPKM 11.5), heart (RPKM 11.1) and 25 other tissues.

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]

ATAD1 Products(4)

mRNA	Protein	Name
NM_001321967.2	NP_001308896.1	outer mitochondrial transmembrane helix translocase isoform 1
NM_001321968.2	NP_001308897.1	outer mitochondrial transmembrane helix translocase isoform 2
NM_001321969.2	NP_001308898.1	outer mitochondrial transmembrane helix translocase isoform 3
NM_032810.4	NP_116199.2	outer mitochondrial transmembrane helix translocase isoform 1

Gene Ontology

Biological Process
Cellular Component

Biological Process GO Annotation	Evidence	Reference	Source
involved in extraction of mislocalized protein from mitochondrial outer membrane	IDA IDA: Inferred from direct assay	24843043	GOA

Cellular Component GO Annotation	Evidence	Reference	Source
located in mitochondrial outer membrane	IDA IDA: Inferred from direct assay	24843043	GOA
located in peroxisomal membrane	IDA IDA: Inferred from direct assay	24843043	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

ATAD1 Protein Structure

AAA

0
100
200
300
361 a.a.

Protein Preferred Names

Protein Names

outer mitochondrial transmembrane helix translocase

ATPase family AAA domain-containing protein 1

Related Diseases

Diseases

Alias

Hyperekplexia 4

HKPX4

Hyperekplexia

Hereditary Hyperekplexia	Kok Disease
Congenital Stiff Man Syndrome	Familial Startle Disease
Sthe	Stiff-Baby Syndrome
Hereditary Hyperexplexia	Startle Disease
Exaggerated Startle Reaction	Hyperexplexia Hereditary
Startle Disease, Familial	Startle Reaction, Exaggerated
Stiff-Man Syndrome, Congenital	Stiff-Person Syndrome, Congenital
Congenital Stiff-Man Syndrome	Congenital Stiff-Person Syndrome
Familial Hyperekplexia	Startle Syndrome
Stiff Baby Syndrome	Hyperekplexia, Hereditary
Stiff-Person Syndrome

Spherocytosis, Type 3

Hereditary Spherocytosis Type 3	SPH3
Hs3	Spherocytosis, Hereditary, 3
Hereditary Spherocytosis 3	Spherocytosis 3

Cold-Induced Sweating Syndrome

Crisponi Syndrome	Sohar-Crisponi Syndrome
Ciss	Cntf Receptor-Related Disorders
Muscle Contractions, Tetanoform, With Characteristic Face, Camptodactyly, Hyperthermia, And Sudden Death	Sweating Syndrome, Cold-Induced

Peroxisomal Biogenesis Disorder

Zellweger Spectrum Disorders	Peroxisome Biogenesis Disorder-Zellweger Syndrome Spectrum
Disorders Of Peroxisome Biogenesis	Zellweger Spectrum
Zellweger Syndrome Spectrum	Peroxisomal Biogenesis Disorders
Pbd, Zss	Pbd-Zsd
Pbd-Zss	Pbd-Zellweger Spectrum Disorder
Peroxisomal Biogenesis Disorders, Zellweger Syndrome Spectrum	Peroxisome Biogenesis Disorder
Peroxisome Biogenesis Disorder Spectrum	Peroxisome Biogenesis Disorders
Zellweger Spectrum Disorder	Hyperpipecolic Acidaemia

Leukoencephalopathy With Vanishing White Matter

Cree Leukoencephalopathy	Vanishing White Matter Disease
Ovarioleukodystrophy	Vanishing White Matter Leukodystrophy
Childhood Ataxia With Central Nervous System Hypomyelinization	Cach
Cach Syndrome	Myelinosis Centralis Diffusa
VWM	Cle
Childhood Ataxia With Central Nervous System Hypomyelination	Childhood Ataxia With Diffuse Central Nervous System Hypomyelination
Cach/Vwm	Cach/Vwm Syndrome
Childhood Ataxia With Central Nervous System Hypomyelination/Vanishing White Matter	Cree Leukoencehalopathy
Late Infantile Cach Syndrome	Juvenile Or Adult Cach Syndrome
Congenital Or Early Infantile Cach Syndrome	Leukodystrophy With Vanishing White Matter

Respiratory Failure

Acute Respiratory Failure	Chronic Respiratory Failure
Respiratory Insufficiency	Acute-On-Chronic Respiratory Failure
Respiratory Disease	Acute And Chronic Respiratory Failure
Respiratory Insufficiency/Failure	Chronic Respiratory Disease
Pulmonary Valve Insufficiency	Chronic Disease Of Respiratory System
Respiration Disorders	Respiratory Tract Diseases
Lung Failure Nos	Pulmonary Failure
Arf - [Acute Respiratory Failure]	Acute Respiratory Insufficiency
Acute Pulmonary Insufficiency	Acute Respiration Failure
Chronic Respiration Failure

Zellweger Syndrome

Cerebrohepatorenal Syndrome	Zellweger Leukodystrophy
Zs	Congenital Iron Overload
Chr	Zws
Severe Pbd-Zsd	Severe Peroxisome Biogenesis Disorder-Zellweger Spectrum Disorder

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

Bioactive Molecules (2)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-P10326	Z-ATAD-FMK	Inhibitor	/	Unkown
HY-RS01118	ATAD1 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Canis familiaris	ATAD1	VGNC	VGNC:38200
Bos taurus	ATAD1	VGNC	VGNC:26232
Macaca mulatta	ATAD1	VGNC	VGNC:100297
Mus musculus	ATAD1	MGD	MGI:1915229
Felis catus	ATAD1	VGNC	VGNC:59988
Rattus norvegicus	ATAD1	RGD	RGD:1308570

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