ATAD3B - ATPase family AAA domain containing 3B Gene

Also Known as TOB3; AAA-TOB3

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 83858

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

DUF3523: Domain of unknown function (DUF3523) (24 - 286)

AAA

AAA: ATPase family associated with various cellular activities (AAA) (348 - 474)

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  • 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

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 Set / Unkown

Orthologs Information

Species Symbol Source ID
Mus musculus ATAD3B MGD MGI:1919214
Others ATAD3B NCBI