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ATAD1 - ATPase family AAA domain containing 1 Gene

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

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 84896

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	References	Source
involved in extraction of mislocalized protein from mitochondrial outer membrane	IDA IDA: Inferred from direct assay	24843043	GOA

Cellular Component GO Annotation	Evidence	References	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

Pre-clinical Phase

Bioactive Molecules (4)

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 Set	/	Unkown
HY-RS21487	Atad1 Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS28005	Atad1 Rat Pre-designed siRNA Set A	Pre-designed Set	/	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
Others	ATAD1	NCBI