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

Gene ID: 9931, updated on 3-Apr-2024

Summary

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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
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Genomic context

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See HELZ in Genome Data Viewer
Location:
17q24.2
Exon count:
36
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 17 NC_000017.11 (67070444..67245989, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 17 NC_060941.1 (67946238..68123293, complement)
105.20220307 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

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • 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

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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 (73) 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

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

Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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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

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Preferred Names
probable helicase with zinc finger domain
Names
down-regulated in human cancers protein
helicase with zinc finger domain
NP_001317376.2
NP_055692.3
XP_005257945.1
XP_006722277.1
XP_011523846.1
XP_047293180.1
XP_047293181.1
XP_047293182.1
XP_047293183.1
XP_054174066.1
XP_054174067.1
XP_054174068.1
XP_054174069.1
XP_054174070.1
XP_054174071.1
XP_054174072.1

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_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_2023_10

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

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