ATAD3B - ATPase family AAA domain containing 3B Gene

Homo sapiens

Also known as TOB3; AAA-TOB3

Gene ID: 83858 | Gene type: protein coding

About ATAD3B

Cytogenetic location: 1p36.33 Genomic coordinates (GRCh38): 1:1,471,765-1,509,466 (from NCBI)

This gene has 6 transcripts (splice variants), 9 orthologues and 2 paralogues. Ubiquitous expression in bone marrow (RPKM 7.4), testis (RPKM 6.3) and 25 other tissues.

Summary

The protein encoded by this gene is localized to the mitochondrial inner membrane, where it can bind to a highly-related protein, ATAD3A. ATAD3A appears to interact with matrix nucleoid complexes, and the encoded protein negatively regulates that interaction. This gene is expressed almost exclusively in pluripotent embryonic stem cells and some Cancer cells. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2015]

ATAD3B Products(2)

mRNA	Protein	Name
NM_001317238.2	NP_001304167.1	ATPase family AAA domain-containing protein 3B isoform AAA-TOB3s precursor
NM_031921.6	NP_114127.3	ATPase family AAA domain-containing protein 3B isoform AAA-TOB3l

ATAD3B Protein Structure

DUF3523

AAA

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

Protein Preferred Names

Protein Names

ATPase family AAA domain-containing protein 3B

AAA-ATPase TOB3

Related Diseases

Diseases

Alias

Pontocerebellar Hypoplasia, Type 4

Pontocerebellar Hypoplasia Type 4	PCH4
Olivopontocerebellar Hypoplasia	Encephalopathy Fatal Infantile With Olivopontocerebellar Hypoplasia
Encephalopathy, Fatal Infantile, With Olivopontocerebellar Hypoplasia	Fatal Infantile Encephalopathy With Olivopontocerebellar Hypoplasia
Pontocerebellar Hypoplasia 4	Young Mckeever Squier Syndrome
Hypoplasia, Pontocerebellar, Type 4

Pontocerebellar Hypoplasia

Pch	Congenital Pontocerebellar Hypoplasia
Opch	Hypoplasia, Pontocerebellar
Pontoneocerebellar Hypoplasia	Nonsyndromic Pontocerebellar Hypoplasia

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-RS01122	ATAD3B Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Mus musculus	ATAD3B	MGD	MGI:1919214

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