U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Links from OMIM

    • Showing Current items.

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

    Gene ID: 9931, updated on 30-Oct-2024

    Summary

    Go to the top of the page Help
    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; AllianceGenome:HGNC:16878
    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
    mouse all
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    Go to the top of the page Help
    See HELZ in Genome Data Viewer
    Location:
    17q24.2
    Exon count:
    36
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 17 NC_000017.11 (67070444..67245989, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 17 NC_060941.1 (67946238..68123293, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (65066560..65241312, complement)

    Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:64971595-64972549 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:64972550-64973503 Neighboring gene H3K27ac-H3K4me1 hESC enhancers GRCh37_chr17:64974248-64974825 and GRCh37_chr17:64974826-64975402 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:64979083-64979584 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12616 Neighboring gene calcium voltage-gated channel auxiliary subunit gamma 4 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:65001812-65002312 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:65002313-65002813 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12617 Neighboring gene MPRA-validated peak2947 silencer Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12618 Neighboring gene MPRA-validated peak2948 silencer Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12620 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12619 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:65049323-65050167 Neighboring gene ReSE screen-validated silencer GRCh37_chr17:65061048-65061409 Neighboring gene calcium voltage-gated channel auxiliary subunit gamma 1 Neighboring gene MPRA-validated peak2950 silencer Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr17:65103924-65105123 Neighboring gene Sharpr-MPRA regulatory region 3705 Neighboring gene Sharpr-MPRA regulatory region 4721 Neighboring gene ribosomal protein L36a pseudogene 48 Neighboring gene H3K27ac hESC enhancer GRCh37_chr17:65240536-65241523 Neighboring gene H3K27ac hESC enhancer GRCh37_chr17:65241524-65242510 Neighboring gene HELZ antisense RNA 1 Neighboring gene small nucleolar RNA SNORA8 Neighboring gene RNA, 5S ribosomal pseudogene 447

    Genomic regions, transcripts, and products

    Go to the top of the page Help

    Go to nucleotide: Graphics FASTA GenBank

    Expression

    Go to the top of the page Help
    • Project title: HPA RNA-seq normal tissues 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

    Go to the top of the pageHelp

    Related articles in PubMed

    1. Down-regulation in human cancers of DRHC, a novel helicase-like gene from 17q25.1 that inhibits cell growth. Nagai H, et al. Cancer Lett, 2003 Apr 10. PMID 12691822
    2. Identification of a differentially expressed RNA helicase by gene trapping. Wagner DS, et al. Biochem Biophys Res Commun, 1999 Sep 7. PMID 10471385
    3. The putative RNA helicase HELZ promotes cell proliferation, translation initiation and ribosomal protein S6 phosphorylation. Hasgall PA, et al. PLoS One, 2011. PMID 21765940, Free PMC Article
    4. Gene expression of Sh3d19, a novel adaptor protein with five Src homology 3 domains, in anagen mouse hair follicles. Shimomura Y, et al. J Dermatol Sci, 2003 Feb. PMID 12615363
    5. SMYD3 encodes a histone methyltransferase involved in the proliferation of cancer cells. Hamamoto R, et al. Nat Cell Biol, 2004 Aug. PMID 15235609

    See all (79) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Downregulation of HELZ reduced translational initiation, resulting in the disassembly of polysomes, in a reduction of cell proliferation and hypophosphorylation of ribosomal protein S6.
      Title: The putative RNA helicase HELZ promotes cell proliferation, translation initiation and ribosomal protein S6 phosphorylation.
    2. Observational study of gene-disease association. (HuGE Navigator)
      Title: Analysis of multiple candidate genes in association with phenotypes of multiple sclerosis.
    3. Results suggest that loss of expression of DRHC may play a role in human carcinogenesis.
      Title: Down-regulation in human cancers of DRHC, a novel helicase-like gene from 17q25.1 that inhibits cell growth.
    Submit: New GeneRIF Correction

    Phenotypes

    Go to the top of the page Help

    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Variation

    Go to the top of the page Help

    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    Interactions

    Go to the top of the page Help
    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Go to the top of the page Help

    Markers

    Homology

    Clone Names

    • KIAA0054, MGC163454, DKFZp586G1924

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables ATP binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables RNA binding HDA PubMed 
    enables RNA binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables helicase activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables hydrolase activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables metal ion binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in regulatory ncRNA-mediated post-transcriptional gene silencing IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Component Evidence Code Pubs
    is_active_in P granule IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    is_active_in cytosol IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in membrane HDA PubMed 
    located_in nucleus IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

    Go to the top of the page Help
    Preferred Names
    probable helicase with zinc finger domain
    Names
    down-regulated in human cancers protein
    helicase with zinc finger domain

    NCBI Reference Sequences (RefSeq)

    Go to the top of the page Help

    NEW Try the new Transcript table

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

      Status: VALIDATED

      Source sequence(s)
      AC005544, AC007448
      Consensus CDS
      CCDS82192.1
      UniProtKB/TrEMBL
      B7ZLW2, J3QS41
      Related
      ENSP00000464512.1, ENST00000580168.5
      Conserved Domains (3) summary
      cd18808
      Location:869 → 1069
      SF1_C_Upf1; C-terminal helicase domain of Upf1-like family helicases
      cd18077
      Location:641 → 868
      DEXXQc_HELZ; DEXXQ-box helicase domain of HELZ
      pfam00642
      Location:181 → 204
      zf-CCCH; Zinc finger C-x8-C-x5-C-x3-H type (and similar)

    2. NM_014877.4 → NP_055692.3  probable helicase with zinc finger domain isoform 1

      Status: VALIDATED

      Source sequence(s)
      AC005544, AC007448
      Consensus CDS
      CCDS42374.1
      UniProtKB/Swiss-Prot
      I6L9H4, P42694
      UniProtKB/TrEMBL
      A0A2P0H7U5
      Related
      ENSP00000351524.5, ENST00000358691.10
      Conserved Domains (3) summary
      pfam00642
      Location:181 → 205
      zf-CCCH; Zinc finger C-x8-C-x5-C-x3-H type (and similar)
      cl22977
      Location:840 → 1051
      UvrD_C_2; UvrD-like helicase C-terminal domain
      cl26261
      Location:636 → 1074
      AAA_11; AAA domain

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    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
      67070444..67245989 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047437225.1 → XP_047293181.1  probable helicase with zinc finger domain isoform X4

      UniProtKB/Swiss-Prot
      I6L9H4, P42694

    2. XM_047437224.1 → XP_047293180.1  probable helicase with zinc finger domain isoform X3

      UniProtKB/TrEMBL
      J3QS41

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

      See identical proteins and their annotated locations for XP_011523846.1

      UniProtKB/TrEMBL
      B7ZLW2
      Conserved Domains (6) summary
      PHA03160
      Location:1656 → 1815
      PHA03160; hypothetical protein; Provisional
      COG1112
      Location:785 → 1099
      DNA2; Superfamily I DNA and/or RNA helicase [Replication, recombination and repair]
      pfam00642
      Location:181 → 205
      zf-CCCH; Zinc finger C-x8-C-x5-C-x3-H type (and similar)
      pfam13086
      Location:669 → 861
      AAA_11; AAA domain
      cl21455
      Location:669 → 766
      P-loop_NTPase; P-loop containing Nucleoside Triphosphate Hydrolases
      cl22977
      Location:868 → 1079
      UvrD_C_2; UvrD-like helicase C-terminal domain

    4. XM_005257888.6 → XP_005257945.1  probable helicase with zinc finger domain isoform X2

      UniProtKB/TrEMBL
      A0A2P0H7U5
      Conserved Domains (6) summary
      PHA03160
      Location:1655 → 1814
      PHA03160; hypothetical protein; Provisional
      COG1112
      Location:784 → 1098
      DNA2; Superfamily I DNA and/or RNA helicase [Replication, recombination and repair]
      pfam00642
      Location:181 → 205
      zf-CCCH; Zinc finger C-x8-C-x5-C-x3-H type (and similar)
      pfam13086
      Location:669 → 860
      AAA_11; AAA domain
      cl21455
      Location:669 → 765
      P-loop_NTPase; P-loop containing Nucleoside Triphosphate Hydrolases
      cl22977
      Location:867 → 1078
      UvrD_C_2; UvrD-like helicase C-terminal domain

    5. XM_006722214.5 → XP_006722277.1  probable helicase with zinc finger domain isoform X1

      See identical proteins and their annotated locations for XP_006722277.1

      UniProtKB/TrEMBL
      B7ZLW2
      Conserved Domains (6) summary
      PHA03160
      Location:1656 → 1815
      PHA03160; hypothetical protein; Provisional
      COG1112
      Location:785 → 1099
      DNA2; Superfamily I DNA and/or RNA helicase [Replication, recombination and repair]
      pfam00642
      Location:181 → 205
      zf-CCCH; Zinc finger C-x8-C-x5-C-x3-H type (and similar)
      pfam13086
      Location:669 → 861
      AAA_11; AAA domain
      cl21455
      Location:669 → 766
      P-loop_NTPase; P-loop containing Nucleoside Triphosphate Hydrolases
      cl22977
      Location:868 → 1079
      UvrD_C_2; UvrD-like helicase C-terminal domain

    6. XM_047437226.1 → XP_047293182.1  probable helicase with zinc finger domain isoform X5

    7. XM_047437227.1 → XP_047293183.1  probable helicase with zinc finger domain isoform X6

    RNA

    1. XR_001752712.3 RNA Sequence

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060941.1 Alternate T2T-CHM13v2.0

      Range
      67946238..68123293 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054318095.1 → XP_054174070.1  probable helicase with zinc finger domain isoform X4

    2. XM_054318094.1 → XP_054174069.1  probable helicase with zinc finger domain isoform X3

    3. XM_054318092.1 → XP_054174067.1  probable helicase with zinc finger domain isoform X1

    4. XM_054318093.1 → XP_054174068.1  probable helicase with zinc finger domain isoform X2

    5. XM_054318091.1 → XP_054174066.1  probable helicase with zinc finger domain isoform X1

    6. XM_054318096.1 → XP_054174071.1  probable helicase with zinc finger domain isoform X5

    7. XM_054318097.1 → XP_054174072.1  probable helicase with zinc finger domain isoform X6

    RNA

    1. XR_008484972.1 RNA Sequence

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    P42694.2 GenPept UniProtKB/Swiss-Prot:P42694

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

    Chemical Information
    Molecular Biology Databases
    Research Materials
    Tools