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] See more...

Aliases for HELZ Gene

Aliases for HELZ Gene

  • Helicase With Zinc Finger 2 3 5
  • Probable Helicase With Zinc Finger Domain 3 4
  • Down-Regulated In Human Cancers Protein 3 4
  • DRHC 3 4
  • Helicase With Zinc Finger Domain 3
  • Down-Regulated In Human Cancers 2
  • EC 3.6.4.- 4
  • KIAA0054 4
  • HUMORF5 3
  • DHRC 3

External Ids for HELZ Gene

Previous GeneCards Identifiers for HELZ Gene

  • GC17P063140
  • GC17P066240
  • GC17M065491
  • GC17M065624
  • GC17M062504
  • GC17M065066
  • GC17M060455

Summaries for HELZ Gene

Entrez Gene Summary for HELZ Gene

  • 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]

GeneCards Summary for HELZ Gene

HELZ (Helicase With Zinc Finger) is a Protein Coding gene. Gene Ontology (GO) annotations related to this gene include helicase activity. An important paralog of this gene is HELZ2.

UniProtKB/Swiss-Prot Summary for HELZ Gene

  • May act as a helicase that plays a role in RNA metabolism in multiple tissues and organs within the developing embryo.

Additional gene information for HELZ Gene

No data available for CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for HELZ Gene

Genomics for HELZ Gene

GeneHancer (GH) Regulatory Elements for HELZ Gene

Promoters and enhancers for HELZ Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around HELZ on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for HELZ

Top Transcription factor binding sites by QIAGEN in the HELZ gene promoter:
  • aMEF-2
  • AP-4
  • FOXF2
  • MEF-2A
  • Meis-1
  • Meis-1a
  • Meis-1b
  • NF-E2
  • NF-E2 p45
  • p300

Genomic Locations for HELZ Gene

Genomic Locations for HELZ Gene
chr17:67,070,438-67,245,989
(GRCh38/hg38)
Size:
175,552 bases
Orientation:
Minus strand
chr17:65,066,554-65,242,105
(GRCh37/hg19)
Size:
175,552 bases
Orientation:
Minus strand

Genomic View for HELZ Gene

Genes around HELZ on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
HELZ Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for HELZ Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for HELZ Gene

Proteins for HELZ Gene

  • Protein details for HELZ Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P42694-HELZ_HUMAN
    Recommended name:
    Probable helicase with zinc finger domain
    Protein Accession:
    P42694
    Secondary Accessions:
    • I6L9H4

    Protein attributes for HELZ Gene

    Size:
    1942 amino acids
    Molecular mass:
    218970 Da
    Quaternary structure:
    • Interacts with SMYD2 (By similarity). Interacts with POLR2A. Interacts with SMYD3; the interaction may bridge SMYD3 and RNA polymerase II.
    SequenceCaution:
    • Sequence=BAA06147.3; Type=Erroneous initiation; Evidence={ECO:0000305};

    Alternative splice isoforms for HELZ Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for HELZ Gene

Post-translational modifications for HELZ Gene

  • Ubiquitination at Lys56
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for HELZ Gene

Domains & Families for HELZ Gene

Gene Families for HELZ Gene

HGNC:
Human Protein Atlas (HPA):
  • Plasma proteins
  • Predicted intracellular proteins
  • Predicted membrane proteins

Protein Domains for HELZ Gene

Blocks:
  • Ataxin-2, C-terminal
  • Zn-finger, C-x8-C-x5-C-x3-H type
InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for HELZ Gene

GenScript: Design optimal peptide antigens:
  • HELZ protein (B7ZLW2_HUMAN)
  • HELZ (C1KEM4_HUMAN)
  • HELZ (C1KEM5_HUMAN)
  • Down-regulated in human cancers protein (HELZ_HUMAN)
  • HELZ protein (Q6PGP6_HUMAN)

Graphical View of Domain Structure for InterPro Entry

P42694

UniProtKB/Swiss-Prot:

HELZ_HUMAN :
  • Belongs to the DNA2/NAM7 helicase family.
Family:
  • Belongs to the DNA2/NAM7 helicase family.
genes like me logo Genes that share domains with HELZ: view

Function for HELZ Gene

Molecular function for HELZ Gene

UniProtKB/Swiss-Prot Function:
May act as a helicase that plays a role in RNA metabolism in multiple tissues and organs within the developing embryo.

Enzyme Numbers (IUBMB) for HELZ Gene

Phenotypes From GWAS Catalog for HELZ Gene

Gene Ontology (GO) - Molecular Function for HELZ Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003677 DNA binding IEA --
GO:0003723 RNA binding IBA 21873635
GO:0004386 helicase activity IEA --
GO:0005515 protein binding IEA,IPI 24606901
GO:0005524 ATP binding IEA --
genes like me logo Genes that share ontologies with HELZ: view
genes like me logo Genes that share phenotypes with HELZ: view

Animal Model Products

CRISPR Products

Clone Products

No data available for Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for HELZ Gene

Localization for HELZ Gene

Subcellular locations from UniProtKB/Swiss-Prot for HELZ Gene

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for HELZ gene
Compartment Confidence
nucleus 4
cytosol 4
plasma membrane 2
cytoskeleton 2
mitochondrion 2
extracellular 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Actin filaments (2)
  • Nucleoli (2)
  • Plasma membrane (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for HELZ Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA --
GO:0005829 cytosol IBA 21873635
GO:0016020 membrane HDA,IEA 19946888
GO:0016021 integral component of membrane IEA --
GO:0043186 P granule IBA 21873635
genes like me logo Genes that share ontologies with HELZ: view

Pathways & Interactions for HELZ Gene

PathCards logo

SuperPathways for HELZ Gene

No Data Available

Gene Ontology (GO) - Biological Process for HELZ Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0035194 posttranscriptional gene silencing by RNA IBA 21873635
genes like me logo Genes that share ontologies with HELZ: view

No data available for Pathways by source and SIGNOR curated interactions for HELZ Gene

Drugs & Compounds for HELZ Gene

No Compound Related Data Available

Transcripts for HELZ Gene

mRNA/cDNA for HELZ Gene

2 REFSEQ mRNAs :
13 NCBI additional mRNA sequence :
12 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for HELZ Gene

ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8a · 8b ^ 9 ^ 10 ^ 11a · 11b ^ 12 ^ 13 ^ 14 ^ 15 ^ 16a · 16b ^ 17 ^ 18 ^ 19 ^ 20 ^ 21 ^ 22 ^ 23 ^
SP1: -
SP2: -
SP3:
SP4: - -
SP5: -
SP6:

ExUns: 24 ^ 25 ^ 26a · 26b ^ 27 ^ 28 ^ 29 ^ 30 ^ 31 ^ 32 ^ 33 ^ 34 ^ 35a · 35b
SP1: -
SP2:
SP3:
SP4:
SP5:
SP6:

Relevant External Links for HELZ Gene

GeneLoc Exon Structure for
HELZ

Expression for HELZ Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for HELZ Gene

Protein differential expression in normal tissues from HIPED for HELZ Gene

This gene is overexpressed in Breast (18.1), Testis (17.3), Peripheral blood mononuclear cells (11.8), and Plasma (11.4).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for HELZ Gene



Protein tissue co-expression partners for HELZ Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for HELZ

SOURCE GeneReport for Unigene cluster for HELZ Gene:

Hs.370140

mRNA Expression by UniProt/SwissProt for HELZ Gene:

P42694-HELZ_HUMAN
Tissue specificity: Expressed predominantly in thymus and brain. Expression is down-regulated in 28 of 95 tested cancer cell lines.

Evidence on tissue expression from TISSUES for HELZ Gene

  • Liver(4.4)
  • Bone marrow(4.3)
  • Nervous system(2.2)
genes like me logo Genes that share expression patterns with HELZ: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer for HELZ Gene

Orthologs for HELZ Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for HELZ Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia HELZ 31 30
  • 99.67 (n)
OneToOne
dog
(Canis familiaris)
Mammalia HELZ 31 30
  • 94.22 (n)
OneToOne
cow
(Bos Taurus)
Mammalia HELZ 31 30
  • 89.47 (n)
OneToOne
rat
(Rattus norvegicus)
Mammalia Helz 30
  • 87.97 (n)
mouse
(Mus musculus)
Mammalia Helz 17 31 30
  • 87.83 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia HELZ 31
  • 85 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia HELZ 31
  • 85 (a)
OneToOne
chicken
(Gallus gallus)
Aves -- 31
  • 86 (a)
OneToMany
HELZ 30
  • 82.91 (n)
-- 31
  • 82 (a)
OneToMany
lizard
(Anolis carolinensis)
Reptilia HELZ 31
  • 82 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia helz 30
  • 71.86 (n)
Str.15539 30
African clawed frog
(Xenopus laevis)
Amphibia Xl.9984 30
zebrafish
(Danio rerio)
Actinopterygii helz 31 30
  • 66.84 (n)
OneToOne
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.5746 30
fruit fly
(Drosophila melanogaster)
Insecta CG9425 31 32
  • 34 (a)
OneToOne
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes NAM7 31
  • 16 (a)
OneToMany
Species where no ortholog for HELZ was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for HELZ Gene

ENSEMBL:
Gene Tree for HELZ (if available)
TreeFam:
Gene Tree for HELZ (if available)
Aminode:
Evolutionary constrained regions (ECRs) for HELZ: view image

Paralogs for HELZ Gene

Paralogs for HELZ Gene

genes like me logo Genes that share paralogs with HELZ: view

Variants for HELZ Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for HELZ Gene

SNP ID Clinical significance and condition Chr 17 pos Variation AA Info Type
rs1060499747 Likely Pathogenic: Abnormality of brain morphology 67,128,716(-) T/C MISSENSE_VARIANT
rs11653020 - p.Ala1530Val
rs2302669 - p.Cys48Arg
rs8080100 - p.Val74Met

Additional dbSNP identifiers (rs#s) for HELZ Gene

Structural Variations from Database of Genomic Variants (DGV) for HELZ Gene

Variant ID Type Subtype PubMed ID
dgv3276n100 CNV loss 25217958
esv2558362 CNV insertion 19546169
nsv1059962 CNV loss 25217958
nsv1067245 CNV loss 25217958
nsv1120054 OTHER inversion 24896259
nsv1125640 CNV tandem duplication 24896259
nsv469731 CNV loss 16826518
nsv960525 CNV duplication 23825009

Variation tolerance for HELZ Gene

Residual Variation Intolerance Score: 4.15% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 10.24; 90.55% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for HELZ Gene

Human Gene Mutation Database (HGMD)
HELZ
SNPedia medical, phenotypic, and genealogical associations of SNPs for
HELZ

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for HELZ Gene

Disorders for HELZ Gene

Additional Disease Information for HELZ

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology

No disorders were found for HELZ Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for HELZ Gene

Publications for HELZ Gene

  1. Down-regulation in human cancers of DRHC, a novel helicase-like gene from 17q25.1 that inhibits cell growth. (PMID: 12691822) Nagai H … Emi M (Cancer letters 2003) 2 3 4 54
  2. Identification of a differentially expressed RNA helicase by gene trapping. (PMID: 10471385) Wagner DS … Klein WH (Biochemical and biophysical research communications 1999) 2 3 4 54
  3. Analysis of multiple candidate genes in association with phenotypes of multiple sclerosis. (PMID: 20378664) Sombekke MH … Uitdehaag BM (Multiple sclerosis (Houndmills, Basingstoke, England) 2010) 3 41 54
  4. SMYD3 encodes a histone methyltransferase involved in the proliferation of cancer cells. (PMID: 15235609) Hamamoto R … Nakamura Y (Nature cell biology 2004) 3 4 54
  5. Prediction of the coding sequences of unidentified human genes. II. The coding sequences of 40 new genes (KIAA0041-KIAA0080) deduced by analysis of cDNA clones from human cell line KG-1. (PMID: 7584044) Nomura N … Tabata S (DNA research : an international journal for rapid publication of reports on genes and genomes 1994) 3 4 54

Products for HELZ Gene

Sources for HELZ Gene