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Aliases for HELZ Gene

Aliases for HELZ Gene

  • Helicase With Zinc Finger 2 3 5
  • Down-Regulated In Human Cancers Protein 3 4
  • DRHC 3 4
  • Probable Helicase With Zinc Finger Domain 3
  • 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. Diseases associated with HELZ include Conjunctival Squamous Cell Carcinoma and Conjunctival Cancer. GO annotations related to this gene include poly(A) RNA binding and helicase activity. An important paralog of this gene is HELZ2.

UniProtKB/Swiss-Prot 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 , fRNAdb sequence ontologies and piRNA Summary for HELZ Gene

Genomics for HELZ Gene

Regulatory Elements for HELZ Gene

Enhancers for HELZ Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH17H067438 1.8 FANTOM5 Ensembl ENCODE dbSUPER 71.7 -195.8 -195789 6.4 PKNOX1 FOXA2 ZFP64 ZNF121 ZNF138 ZNF354C FOS RCOR1 RUNX3 CREM BPTF NOL11 HELZ LOC100418928 MIR548AA2 MIR548D2 PITPNC1 ENSG00000267731 SLC16A6 RN7SL756P
GH17H068019 1.4 Ensembl ENCODE 57.7 -774.2 -774194 2 MLX FEZF1 DMAP1 YY1 SLC30A9 ZNF143 ZNF548 SP3 NFYC ZC3H11A BPTF NOL11 HELZ LRRC37A16P ENSG00000267352 ENSG00000267731 LOC100418928 FBXO36P1 ENSG00000264421 RPL36AP48
GH17H067992 1.5 FANTOM5 ENCODE 49.5 -748.8 -748805 4.5 HDGF PKNOX1 FOXA2 ARNT ZFP64 ARID4B SIN3A YBX1 DMAP1 ZNF2 NOL11 HELZ BPTF LRRC37A16P C17orf58 ENSG00000265055 ENSG00000267731 LOC100418928 ENSG00000265100 WIPI1
GH17H067388 1.9 FANTOM5 Ensembl ENCODE dbSUPER 36.3 -145.5 -145541 5.6 PKNOX1 FOXA2 YY1 ZNF121 FOS ATF7 RUNX3 JUNB TSHZ1 PPARG HELZ NOL11 BPTF PITPNC1 LOC100418928 GC17P067379 GC17P067378 ENSG00000201547
GH17H067824 1.4 FANTOM5 ENCODE 48.8 -580.1 -580140 3.7 HDGF PKNOX1 MLX ARNT ZFP64 ARID4B SIN3A FEZF1 DMAP1 ZNF2 BPTF HELZ NOL11 ENSG00000267731 ENSG00000267352 FBXO36P1 ENSG00000264421 RPL36AP48 LOC100418928 LINC00674
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around HELZ on UCSC Golden Path with GeneCards custom track

Promoters for HELZ Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000097364 689 2601 FOXA2 ARID4B SIN3A FEZF1 DMAP1 ZNF2 ZBTB7B YY1 ZNF207 ZNF143

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)

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 isoforms=256
  • 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

Suggested Antigen Peptide Sequences for HELZ Gene

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:0003723 RNA binding IDA 22658674
GO:0004386 helicase activity IEA --
GO:0005515 protein binding IPI 24606901
GO:0005524 ATP binding IEA --
GO:0016787 hydrolase activity IEA --
genes like me logo Genes that share ontologies with HELZ: view
genes like me logo Genes that share phenotypes with HELZ: view

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 5
plasma membrane 2
cytoskeleton 2
cytosol 2
extracellular 1
mitochondrion 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:0016020 membrane IEA,IDA 19946888
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with HELZ: view

Pathways & Interactions for HELZ Gene

No Data Available

Gene Ontology (GO) - Biological Process for HELZ Gene

None

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

Unigene Clusters for HELZ Gene

Helicase with zinc finger:
Representative Sequences:

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
ECgene alternative splicing isoforms for
HELZ

Expression for HELZ Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP 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, PaxDb, MaxQB, and MOPED for HELZ Gene



Protein tissue co-expression partners for HELZ Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of HELZ Gene:

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 33 34
  • 99.67 (n)
dog
(Canis familiaris)
Mammalia HELZ 33 34
  • 94.22 (n)
cow
(Bos Taurus)
Mammalia HELZ 33 34
  • 89.47 (n)
rat
(Rattus norvegicus)
Mammalia Helz 33
  • 87.97 (n)
mouse
(Mus musculus)
Mammalia Helz 33 16 34
  • 87.83 (n)
oppossum
(Monodelphis domestica)
Mammalia HELZ 34
  • 85 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia HELZ 34
  • 85 (a)
OneToOne
chicken
(Gallus gallus)
Aves -- 34
  • 86 (a)
OneToMany
LOC100857488 33
  • 82.91 (n)
-- 34
  • 82 (a)
OneToMany
lizard
(Anolis carolinensis)
Reptilia HELZ 34
  • 82 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia helz 33
  • 71.86 (n)
Str.15539 33
African clawed frog
(Xenopus laevis)
Amphibia Xl.9984 33
zebrafish
(Danio rerio)
Actinopterygii helz 33 34
  • 66.84 (n)
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.5746 33
fruit fly
(Drosophila melanogaster)
Insecta CG9425 35 34
  • 49 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes NAM7 34
  • 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)

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 from dbSNP and Humsavar for HELZ Gene

SNP ID Clin Chr 17 pos Sequence Context AA Info Type
rs1000011650 -- 67,155,639(+) CGAGG(C/T)CAGCC intron-variant
rs1000020750 -- 67,077,820(+) TTGTA(C/T)ATCAA nc-transcript-variant, utr-variant-3-prime
rs1000030591 -- 67,077,531(+) CAAGC(C/T)TGAAG nc-transcript-variant, utr-variant-3-prime
rs1000054868 -- 67,201,508(+) GGAAA(A/G)CAACC intron-variant
rs1000081050 -- 67,103,261(+) AATCA(A/T)GAATT intron-variant

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

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

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)

Relevant External Links for HELZ Gene

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

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

Disorders for HELZ Gene

MalaCards: The human disease database

(2) MalaCards diseases for HELZ Gene - From: HGMD and DISEASES

Disorder Aliases PubMed IDs
conjunctival squamous cell carcinoma
  • conjunctival epidermoid carcinoma
conjunctival cancer
  • conjunctival tumor
- elite association - COSMIC cancer census association via MalaCards
Search HELZ in MalaCards View complete list of genes associated with diseases

Relevant External Links for HELZ

Genetic Association Database (GAD)
HELZ
Human Genome Epidemiology (HuGE) Navigator
HELZ
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
HELZ
genes like me logo Genes that share disorders with HELZ: view

No data available for 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 60
  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 60
  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 45 60
  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 60
  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 60

Products for HELZ Gene

Sources for HELZ Gene

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