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ATAD5 ATPase family AAA domain containing 5 [ Homo sapiens (human) ]

Gene ID: 79915, updated on 5-Aug-2022

Summary

Official Symbol
ATAD5provided by HGNC
Official Full Name
ATPase family AAA domain containing 5provided by HGNC
Primary source
HGNC:HGNC:25752
See related
Ensembl:ENSG00000176208 MIM:609534; AllianceGenome:HGNC:25752
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
ELG1; FRAG1; C17orf41
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]
Expression
Broad expression in bone marrow (RPKM 3.8), lymph node (RPKM 1.6) and 19 other tissues See more
Orthologs
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Genomic context

See ATAD5 in Genome Data Viewer
Location:
17q11.2
Exon count:
23
Annotation release Status Assembly Chr Location
110 current GRCh38.p14 (GCF_000001405.40) 17 NC_000017.11 (30831966..30895869)
110 current T2T-CHM13v2.0 (GCF_009914755.1) 17 NC_060941.1 (31777675..31841578)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (29158984..29222887)

Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene cytokine receptor like factor 3 Neighboring gene Sharpr-MPRA regulatory region 4018 Neighboring gene ribosomal protein S17 pseudogene 3 Neighboring gene RNA, U6 small nuclear 298, pseudogene Neighboring gene transcription elongation factor, mitochondrial Neighboring gene ArfGAP with dual PH domains 2 Neighboring gene ring finger protein 135

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

EBI GWAS Catalog

Description
Genome-wide meta-analysis identifies 11 new loci for anthropometric traits and provides insights into genetic architecture.
EBI GWAS Catalog
Hundreds of variants clustered in genomic loci and biological pathways affect human height.
EBI GWAS Catalog
Many sequence variants affecting diversity of adult human height.
EBI GWAS Catalog

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ12735

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables ATP binding IEA
Inferred from Electronic Annotation
more info
 
enables ATP hydrolysis activity IEA
Inferred from Electronic Annotation
more info
 
enables DNA binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
enables DNA clamp unloader activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
enables DNA clamp unloader activity IMP
Inferred from Mutant Phenotype
more info
PubMed 
enables protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Component Evidence Code Pubs
part_of Elg1 RFC-like complex IDA
Inferred from Direct Assay
more info
PubMed 
is_active_in nucleus IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 

General protein information

Preferred Names
ATPase family AAA domain-containing protein 5
Names
chromosome fragility associated gene 1
chromosome fragility-associated gene 1 protein
enhanced level of genomic instability 1 homolog

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

  1. NM_024857.5NP_079133.3  ATPase family AAA domain-containing protein 5

    See identical proteins and their annotated locations for NP_079133.3

    Status: VALIDATED

    Source sequence(s)
    AC127024, AJ314648, AL832103, DB527289, DR159473
    Consensus CDS
    CCDS11260.1
    UniProtKB/Swiss-Prot
    Q96QE3, Q9H9I1
    Related
    ENSP00000313171.4, ENST00000321990.5
    Conserved Domains (1) summary
    cl21455
    Location:11281173
    P-loop_NTPase; P-loop containing Nucleoside Triphosphate Hydrolases

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 110 details...Open this link in a new tab

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000017.11 Reference GRCh38.p14 Primary Assembly

    Range
    30831966..30895869
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011525269.4XP_011523571.1  ATPase family AAA domain-containing protein 5 isoform X1

    Conserved Domains (1) summary
    cl21455
    Location:11291174
    P-loop_NTPase; P-loop containing Nucleoside Triphosphate Hydrolases
  2. XM_011525270.4XP_011523572.1  ATPase family AAA domain-containing protein 5 isoform X2

    Conserved Domains (1) summary
    cl21455
    Location:11291281
    P-loop_NTPase; P-loop containing Nucleoside Triphosphate Hydrolases
  3. XM_047436781.1XP_047292737.1  ATPase family AAA domain-containing protein 5 isoform X3

  4. XM_047436782.1XP_047292738.1  ATPase family AAA domain-containing protein 5 isoform X4

  5. XM_047436783.1XP_047292739.1  ATPase family AAA domain-containing protein 5 isoform X5

  6. XM_047436784.1XP_047292740.1  ATPase family AAA domain-containing protein 5 isoform X6

    Related
    ENSP00000463102.1, ENST00000578295.5
  7. XM_011525273.4XP_011523575.1  ATPase family AAA domain-containing protein 5 isoform X7

  8. XM_011525274.4XP_011523576.1  ATPase family AAA domain-containing protein 5 isoform X8

    Conserved Domains (1) summary
    cl21455
    Location:291336
    P-loop_NTPase; P-loop containing Nucleoside Triphosphate Hydrolases

RNA

  1. XR_001752632.3 RNA Sequence

  2. XR_007065465.1 RNA Sequence

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060941.1 Alternate T2T-CHM13v2.0

    Range
    31777675..31841578
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)