ATAD5 - ATPase family AAA domain containing 5 Gene

Also Known as ELG1; FRAG1; C17orf41

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 79915

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
Molecular Function GO Annotation Evidence References Source
enables DNA clamp unloader activity IMP
IMP: Inferred from mutant phenotype
23277426 GOA
enables protein binding IPI
IPI: Inferred from physical interaction
21555454 GOA
Biological Process GO Annotation Evidence References Source
involved in positive regulation of DNA replication IMP
IMP: Inferred from mutant phenotype
23277426 GOA
involved in positive regulation of cell cycle G2/M phase transition IMP
IMP: Inferred from mutant phenotype
23277426 GOA
Cellular Component GO Annotation Evidence References Source
part of Elg1 RFC-like complex IDA
IDA: Inferred from direct assay
23277426 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

ATAD5 Protein Structure

AAA

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

  • 0
  • 300
  • 600
  • 900
  • 1200
  • 1500
  • 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
Others ATAD5 NCBI