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

Gene ID: 79915, updated on 1-Aug-2020

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
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
Expression
Broad expression in bone marrow (RPKM 3.8), lymph node (RPKM 1.6) and 19 other tissues See more
Orthologs

Genomic context

See ATAD5 in Genome Data Viewer
Location:
17q11.2
Exon count:
23
Annotation release Status Assembly Chr Location
109.20200522 current GRCh38.p13 (GCF_000001405.39) 17 NC_000017.11 (30830830..30895869)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (29159020..29222295)

Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene SUZ12 pseudogene 1 Neighboring gene SUZ12P1 PRS4 recombination region Neighboring gene cytokine receptor like factor 3 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

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

NHGRI GWAS Catalog

Description
Genome-wide meta-analysis identifies 11 new loci for anthropometric traits and provides insights into genetic architecture.
NHGRI GWA Catalog
Hundreds of variants clustered in genomic loci and biological pathways affect human height.
NHGRI GWA Catalog
Many sequence variants affecting diversity of adult human height.
NHGRI GWA 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
ATP binding IEA
Inferred from Electronic Annotation
more info
 
DNA binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
DNA clamp unloader activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
DNA clamp unloader activity IMP
Inferred from Mutant Phenotype
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
B cell proliferation IEA
Inferred from Electronic Annotation
more info
 
DNA clamp unloading IMP
Inferred from Mutant Phenotype
more info
PubMed 
intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator IEA
Inferred from Electronic Annotation
more info
 
isotype switching IEA
Inferred from Electronic Annotation
more info
 
negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator IEA
Inferred from Electronic Annotation
more info
 
nuclear DNA replication IEA
Inferred from Electronic Annotation
more info
 
nucleic acid phosphodiester bond hydrolysis IEA
Inferred from Electronic Annotation
more info
 
positive regulation of B cell proliferation IEA
Inferred from Electronic Annotation
more info
 
positive regulation of DNA replication IMP
Inferred from Mutant Phenotype
more info
PubMed 
positive regulation of cell cycle G2/M phase transition IMP
Inferred from Mutant Phenotype
more info
PubMed 
positive regulation of isotype switching to IgG isotypes IEA
Inferred from Electronic Annotation
more info
 
regulation of mitotic cell cycle phase transition IEA
Inferred from Electronic Annotation
more info
 
signal transduction in response to DNA damage IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
Elg1 RFC-like complex IDA
Inferred from Direct Assay
more info
PubMed 
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)

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
    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 109.20200522

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000017.11 Reference GRCh38.p13 Primary Assembly

    Range
    30830830..30895869
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011525269.3XP_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_011525270.3XP_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_011525273.3XP_011523575.1  ATPase family AAA domain-containing protein 5 isoform X3

    Related
    ENSP00000463102.1, ENST00000578295.5
  4. XM_011525274.3XP_011523576.1  ATPase family AAA domain-containing protein 5 isoform X4

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

RNA

  1. XR_934553.3 RNA Sequence

  2. XR_001752631.2 RNA Sequence

  3. XR_001752632.2 RNA Sequence

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