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

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	Reference	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	Reference	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	Reference	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

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

Related Agents

Pre-clinical Phase

Bioactive Molecules (3)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-122198	ML367	Inhibitor	99.84%	Unkown
HY-P10326	Z-ATAD-FMK	Inhibitor	/	Unkown
HY-RS01123	ATAD5 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

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

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