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    HELZ helicase with zinc finger [ Homo sapiens (human) ]

    Gene ID: 9931, updated on 7-Oct-2018

    Summary

    Official Symbol
    HELZprovided by HGNC
    Official Full Name
    helicase with zinc fingerprovided by HGNC
    Primary source
    HGNC:HGNC:16878
    See related
    Ensembl:ENSG00000198265 MIM:606699; Vega:OTTHUMG00000179555
    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
    DHRC; DRHC; HUMORF5
    Summary
    HELZ is a member of the superfamily I class of RNA helicases. RNA helicases alter the conformation of RNA by unwinding double-stranded regions, thereby altering the biologic activity of the RNA molecule and regulating access to other proteins (Wagner et al., 1999 [PubMed 10471385]).[supplied by OMIM, Mar 2008]
    Expression
    Ubiquitous expression in testis (RPKM 6.5), ovary (RPKM 6.3) and 25 other tissues See more
    Orthologs

    Genomic context

    See HELZ in Genome Data Viewer
    Location:
    17q24.2
    Exon count:
    36
    Annotation release Status Assembly Chr Location
    109 current GRCh38.p12 (GCF_000001405.38) 17 NC_000017.11 (67070438..67245989, complement)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (65066554..65241349, complement)

    Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene calcium voltage-gated channel auxiliary subunit gamma 4 Neighboring gene calcium voltage-gated channel auxiliary subunit gamma 1 Neighboring gene ribosomal protein L36a pseudogene 48 Neighboring gene uncharacterized LOC101928021 Neighboring gene RNA, 5S ribosomal pseudogene 447 Neighboring gene proteasome 26S subunit, non-ATPase 12

    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 Jun 15 11:32:44 2016

    Bibliography

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Clone Names

    • KIAA0054, MGC163454, DKFZp586G1924

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    ATP binding IEA
    Inferred from Electronic Annotation
    more info
     
    RNA binding HDA PubMed 
    helicase activity IEA
    Inferred from Electronic Annotation
    more info
     
    metal ion binding IEA
    Inferred from Electronic Annotation
    more info
     
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    posttranscriptional gene silencing by RNA IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    Component Evidence Code Pubs
    P granule IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    cytosol IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    membrane HDA PubMed 
    nucleus IEA
    Inferred from Electronic Annotation
    more info
     

    General protein information

    Preferred Names
    probable helicase with zinc finger domain
    Names
    down-regulated in human cancers protein
    helicase with zinc finger domain
    NP_001317376.1
    NP_055692.2
    XP_005257945.1
    XP_006722277.1
    XP_006722278.1
    XP_006722279.1
    XP_011523846.1
    XP_016880966.1
    XP_016880967.1

    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_001330447.1NP_001317376.1  probable helicase with zinc finger domain isoform 2

      Status: VALIDATED

      Source sequence(s)
      AC005544, AC007448, AL699487, AL832149, BC144083
      Consensus CDS
      CCDS82192.1
      UniProtKB/TrEMBL
      B7ZLW2
      Related
      ENSP00000464512.1, ENST00000580168.5
    2. NM_014877.3NP_055692.2  probable helicase with zinc finger domain isoform 1

      See identical proteins and their annotated locations for NP_055692.2

      Status: VALIDATED

      Source sequence(s)
      AC005544, AL832149, BC130582, BP353830
      Consensus CDS
      CCDS42374.1
      UniProtKB/Swiss-Prot
      P42694
      UniProtKB/TrEMBL
      A0A024R8K8
      Related
      ENSP00000351524.5, OTTHUMP00000261816, ENST00000358691.9, OTTHUMT00000447068
      Conserved Domains (6) summary
      PHA03160
      Location:16281787
      PHA03160; hypothetical protein; Provisional
      COG1112
      Location:7571071
      DNA2; Superfamily I DNA and/or RNA helicase [Replication, recombination and repair]
      pfam00642
      Location:181205
      zf-CCCH; Zinc finger C-x8-C-x5-C-x3-H type (and similar)
      pfam13086
      Location:642833
      AAA_11; AAA domain
      cl21455
      Location:641704
      P-loop_NTPase; P-loop containing Nucleoside Triphosphate Hydrolases
      cl22977
      Location:8401051
      UvrD_C_2; UvrD-like helicase C-terminal domain

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

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

    Reference GRCh38.p12 Primary Assembly

    Genomic

    1. NC_000017.11 Reference GRCh38.p12 Primary Assembly

      Range
      67070438..67245989 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011525544.2XP_011523846.1  probable helicase with zinc finger domain isoform X1

      See identical proteins and their annotated locations for XP_011523846.1

      Conserved Domains (6) summary
      PHA03160
      Location:16561815
      PHA03160; hypothetical protein; Provisional
      COG1112
      Location:7851099
      DNA2; Superfamily I DNA and/or RNA helicase [Replication, recombination and repair]
      pfam00642
      Location:181205
      zf-CCCH; Zinc finger C-x8-C-x5-C-x3-H type (and similar)
      pfam13086
      Location:669861
      AAA_11; AAA domain
      cl21455
      Location:669766
      P-loop_NTPase; P-loop containing Nucleoside Triphosphate Hydrolases
      cl22977
      Location:8681079
      UvrD_C_2; UvrD-like helicase C-terminal domain
    2. XM_006722215.3XP_006722278.1  probable helicase with zinc finger domain isoform X3

      Conserved Domains (5) summary
      PHA03160
      Location:14211580
      PHA03160; hypothetical protein; Provisional
      COG1112
      Location:550864
      DNA2; Superfamily I DNA and/or RNA helicase [Replication, recombination and repair]
      pfam13086
      Location:434626
      AAA_11; AAA domain
      cl21455
      Location:434531
      P-loop_NTPase; P-loop containing Nucleoside Triphosphate Hydrolases
      cl22977
      Location:633844
      UvrD_C_2; UvrD-like helicase C-terminal domain
    3. XM_017025478.1XP_016880967.1  probable helicase with zinc finger domain isoform X6

    4. XM_017025477.2XP_016880966.1  probable helicase with zinc finger domain isoform X4

    5. XM_005257888.5XP_005257945.1  probable helicase with zinc finger domain isoform X2

      Conserved Domains (6) summary
      PHA03160
      Location:16551814
      PHA03160; hypothetical protein; Provisional
      COG1112
      Location:7841098
      DNA2; Superfamily I DNA and/or RNA helicase [Replication, recombination and repair]
      pfam00642
      Location:181205
      zf-CCCH; Zinc finger C-x8-C-x5-C-x3-H type (and similar)
      pfam13086
      Location:669860
      AAA_11; AAA domain
      cl21455
      Location:669765
      P-loop_NTPase; P-loop containing Nucleoside Triphosphate Hydrolases
      cl22977
      Location:8671078
      UvrD_C_2; UvrD-like helicase C-terminal domain
    6. XM_006722214.4XP_006722277.1  probable helicase with zinc finger domain isoform X1

      See identical proteins and their annotated locations for XP_006722277.1

      Conserved Domains (6) summary
      PHA03160
      Location:16561815
      PHA03160; hypothetical protein; Provisional
      COG1112
      Location:7851099
      DNA2; Superfamily I DNA and/or RNA helicase [Replication, recombination and repair]
      pfam00642
      Location:181205
      zf-CCCH; Zinc finger C-x8-C-x5-C-x3-H type (and similar)
      pfam13086
      Location:669861
      AAA_11; AAA domain
      cl21455
      Location:669766
      P-loop_NTPase; P-loop containing Nucleoside Triphosphate Hydrolases
      cl22977
      Location:8681079
      UvrD_C_2; UvrD-like helicase C-terminal domain
    7. XM_006722216.3XP_006722279.1  probable helicase with zinc finger domain isoform X5

      Conserved Domains (4) summary
      COG1112
      Location:393707
      DNA2; Superfamily I DNA and/or RNA helicase [Replication, recombination and repair]
      pfam13086
      Location:277469
      AAA_11; AAA domain
      cl21455
      Location:277374
      P-loop_NTPase; P-loop containing Nucleoside Triphosphate Hydrolases
      cl22977
      Location:476687
      UvrD_C_2; UvrD-like helicase C-terminal domain

    RNA

    1. XR_001752714.2 RNA Sequence

    2. XR_001752713.2 RNA Sequence

    3. XR_001752712.2 RNA Sequence

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