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

    Gene ID: 79915, updated on 3-Sep-2017
    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; Vega:OTTHUMG00000132794
    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
    Orthologs
    Location:
    17q11.2
    Exon count:
    24
    Annotation release Status Assembly Chr Location
    108 current GRCh38.p7 (GCF_000001405.33) 17 NC_000017.11 (30830932..30896424)
    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 polycomb repressive complex 2 subunit pseudogene 1 Neighboring gene cytokine receptor like factor 3 Neighboring gene ribosomal protein S17 pseudogene 3 Neighboring gene transcription elongation factor, mitochondrial Neighboring gene ArfGAP with dual PH domains 2

    • 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 Jun 15 11:32:44 2016

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    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
    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Homology

    Clone Names

    • FLJ12735

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    ATP binding IEA
    Inferred from Electronic Annotation
    more info
     
    Process Evidence Code Pubs
    cellular response to DNA damage stimulus IEA
    Inferred from Electronic Annotation
    more info
     
    immunoglobulin production IEA
    Inferred from Electronic Annotation
    more info
     
    positive regulation of B cell proliferation IEA
    Inferred from Electronic Annotation
    more info
     
    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
     
    Component Evidence Code Pubs
    nucleus IEA
    Inferred from Electronic Annotation
    more info
     
    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

    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_024857.4NP_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)
      AJ314648, AL832103, DB527289, DR159473
      Consensus CDS
      CCDS11260.1
      UniProtKB/Swiss-Prot
      Q96QE3
      Related
      ENSP00000313171.4, OTTHUMP00000163682, ENST00000321990.4, OTTHUMT00000256206
      Conserved Domains (1) summary
      cl21455
      Location:11281173
      P-loop_NTPase; P-loop containing Nucleoside Triphosphate Hydrolases

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 108 details...Open this link in a new tab

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

    Reference GRCh38.p7 Primary Assembly

    Genomic

    1. NC_000017.11 Reference GRCh38.p7 Primary Assembly

      Range
      30830932..30896424
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011525273.2XP_011523575.1  ATPase family AAA domain-containing protein 5 isoform X4

      Related
      ENSP00000463102.1, OTTHUMP00000260540, ENST00000578295.5, OTTHUMT00000444434
    2. XM_011525269.2XP_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
    3. XM_011525270.2XP_011523572.1  ATPase family AAA domain-containing protein 5 isoform X3

      Conserved Domains (1) summary
      cl21455
      Location:11291281
      P-loop_NTPase; P-loop containing Nucleoside Triphosphate Hydrolases
    4. XM_017025111.1XP_016880600.1  ATPase family AAA domain-containing protein 5 isoform X2

    5. XM_011525274.2XP_011523576.1  ATPase family AAA domain-containing protein 5 isoform X5

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

    RNA

    1. XR_001752631.1 RNA Sequence

    2. XR_001752632.1 RNA Sequence

    3. XR_934553.2 RNA Sequence

    Alternate CHM1_1.1

    Genomic

    1. NC_018928.2 Alternate CHM1_1.1

      Range
      29221594..29285410
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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