1. Gene
  2. ATAD5 - ATPase family AAA domain containing 5 Gene

ATAD5 - ATPase family AAA domain containing 5 Gene

Homo sapiens

Also known as ELG1; FRAG1; C17orf41

Gene ID: 79915 | Gene type: protein coding

About ATAD5

Cytogenetic location: 17q11.2 Genomic coordinates (GRCh38): 17:30,831,966-30,895,869 (from NCBI)

This gene has 3 transcripts (splice variants), 240 orthologues and 1 paralogue. Broad expression in bone marrow (RPKM 3.8), lymph node (RPKM 1.6) and 19 other tissues.

Summary

Enables DNA clamp unloader activity. Involved in DNA clamp unloading; positive regulation of DNA replication; and positive regulation of cell cycle G2/M phase transition. Part of Elg1 RFC-like complex. Biomarker of neurilemmoma. [provided by Alliance of Genome Resources, Apr 2022]

ATAD5 Products(1)

mRNA Protein Name
NM_024857.5 NP_079133.3 ATPase family AAA domain-containing protein 5

ATAD5 Protein Structure

AAA

AAA: ATPase family associated with various cellular activities (AAA) (1128 - 1205)

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  • 1844 a.a.
Protein Preferred Names Protein Names

ATPase family AAA domain-containing protein 5

chromosome fragility associated gene 1

Related Diseases

Diseases Alias
Chromosome 17q11.2 Deletion Syndrome

Nf1 Microdeletion Syndrome

17q11 Microdeletion Syndrome

Neurofibromatosis Type 1 Microdeletion Syndrome

Van Asperen Syndrome

Del(17)(Q11)

Monosomy 17q11

Chromosome 17q11.2 Deletion Syndrome, 1.4mb

Neurilemmoma

Schwannoma

Benign Schwannoma

Neurilemoma

Peripheral Fibroblastoma

Psammomatous Schwannoma

Neurolemmoma

Schwannomas

Fanconi Anemia, Complementation Group A

Fanconi Anemia

Fanconi Pancytopenia

Fanconi Anemia Complementation Group A

FANCA

Fa

Fanconi Panmyelopathy

Fanconi'S Anemia

Fanconi Anaemia

Fanconi'S Anaemia

Fanconi Hypoplastic Anemia

Estren-Dameshek Variant Of Fanconi Anemia

Estren-Dameshek Variant Of Fanconi Pancytopenia

Fanconi Anemia Estren-Dameshek Variant

Fanconis Anemia

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

Orthologs Information

Species Symbol Source ID
Mus musculus ATAD5 MGD MGI:2442925
Bos taurus ATAD5 VGNC VGNC:26235
Canis familiaris ATAD5 VGNC VGNC:38203
Macaca mulatta ATAD5 VGNC VGNC:99122
Felis catus ATAD5 VGNC VGNC:59991
Rattus norvegicus ATAD5 RGD RGD:1561464