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HELZ2 helicase with zinc finger 2 [ Homo sapiens (human) ]

Gene ID: 85441, updated on 3-Apr-2024

Summary

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Official Symbol
HELZ2provided by HGNC
Official Full Name
helicase with zinc finger 2provided by HGNC
Primary source
HGNC:HGNC:30021
See related
Ensembl:ENSG00000130589 MIM:611265; AllianceGenome:HGNC:30021
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
PDIP-1; PRIC285
Summary
The protein encoded by this gene is a nuclear transcriptional co-activator for peroxisome proliferator activated receptor alpha. The encoded protein contains a zinc finger and is a helicase that appears to be part of the peroxisome proliferator activated receptor alpha interacting complex. This gene is a member of the DNA2/NAM7 helicase gene family. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
Expression
Ubiquitous expression in spleen (RPKM 6.7), bone marrow (RPKM 5.2) and 25 other tissues See more
Orthologs
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Genomic context

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Location:
20q13.33
Exon count:
19
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 20 NC_000020.11 (63558086..63574239, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 20 NC_060944.1 (65370683..65387688, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 20 NC_000020.10 (62189439..62205592, complement)

Chromosome 20 - NC_000020.11Genomic Context describing neighboring genes Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_61036 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13160 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18227 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:62175449-62176002 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:62178175-62178816 Neighboring gene src-related kinase lacking C-terminal regulatory tyrosine and N-terminal myristylation sites Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18228 Neighboring gene Sharpr-MPRA regulatory region 13995 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13164 Neighboring gene fibronectin type III domain containing 11 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_61120 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18229 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18230 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18231 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18232 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18233 Neighboring gene ReSE screen-validated silencer GRCh37_chr20:62202570-62202926 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13165 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:62205701-62206428 Neighboring gene ReSE screen-validated silencer GRCh37_chr20:62207026-62207211 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18234 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:62213946-62214446 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:62214447-62214947 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_61137 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_61148 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_61158 Neighboring gene glucocorticoid modulatory element binding protein 2 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_61169 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_61181 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_61184 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_61189 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18235 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_61197 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:62250681-62251180 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_61208 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13167 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13168 Neighboring gene melanoma highly expressed competing endogenous lncRNA for miR-425 and miR-489

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. The interferon stimulated gene-encoded protein HELZ2 inhibits human LINE-1 retrotransposition and LINE-1 RNA-mediated type I interferon induction. Luqman-Fatah A, et al. Nat Commun, 2023 Jan 13. PMID 36639706, Free PMC Article
  2. HELZ2 promotes K63-linked polyubiquitination of c-Myc to induce retinoblastoma tumorigenesis. Dai H, et al. Med Oncol, 2021 Nov 10. PMID 34761308
  3. Genetics of gene expression in primary immune cells identifies cell type-specific master regulators and roles of HLA alleles. Fairfax BP, et al. Nat Genet, 2012 Mar 25. PMID 22446964, Free PMC Article
  4. THRAP3 interacts with HELZ2 and plays a novel role in adipocyte differentiation. Katano-Toki A, et al. Mol Endocrinol, 2013 May. PMID 23525231, Free PMC Article
  5. Isolation and characterization of a transcriptional cofactor and its novel isoform that bind the deoxyribonucleic acid-binding domain of peroxisome proliferator-activated receptor-gamma. Tomaru T, et al. Endocrinology, 2006 Jan. PMID 16239304

See all (41) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. HELZ2: a new, interferon-regulated, human 3'-5' exoribonuclease of the RNB family is expressed from a non-canonical initiation codon.
    Title: HELZ2: a new, interferon-regulated, human 3'-5' exoribonuclease of the RNB family is expressed from a non-canonical initiation codon.
  2. The interferon stimulated gene-encoded protein HELZ2 inhibits human LINE-1 retrotransposition and LINE-1 RNA-mediated type I interferon induction.
    Title: The interferon stimulated gene-encoded protein HELZ2 inhibits human LINE-1 retrotransposition and LINE-1 RNA-mediated type I interferon induction.
  3. HELZ2 promotes K63-linked polyubiquitination of c-Myc to induce retinoblastoma tumorigenesis.
    Title: HELZ2 promotes K63-linked polyubiquitination of c-Myc to induce retinoblastoma tumorigenesis.
  4. Thrap3 could play indispensable roles in terminal differentiation of adipocytes by enhancing PPARgamma-mediated gene activation cooperatively with Helz2.
    Title: THRAP3 interacts with HELZ2 and plays a novel role in adipocyte differentiation.
  5. Genetic polymorphisms in PRIC285 gene is associated with autoimmune disease.
    Title: Genetics of gene expression in primary immune cells identifies cell type-specific master regulators and roles of HLA alleles.
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

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • FLJ00244, KIAA1769, MGC132634, MGC138228

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables ATP binding IEA
Inferred from Electronic Annotation
more info
  
enables ATP hydrolysis activity IEA
Inferred from Electronic Annotation
more info
  
enables DNA 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 RNA helicase activity IDA
Inferred from Direct Assay
more info
 PubMed 
enables exoribonuclease II activity IDA
Inferred from Direct Assay
more info
 PubMed 
enables metal ion binding IEA
Inferred from Electronic Annotation
more info
  
enables nuclear receptor coactivator activity IDA
Inferred from Direct Assay
more info
 PubMed 
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
Process Evidence Code Pubs
involved_in positive regulation of transcription by RNA polymerase II IDA
Inferred from Direct Assay
more info
 PubMed 
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
  
located_in cytoplasm IDA
Inferred from Direct Assay
more info
 PubMed 
is_active_in cytosol IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in membrane HDA PubMed 
located_in nucleoplasm TAS
Traceable Author Statement
more info
  

General protein information

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Preferred Names
3'-5' exoribonuclease HELZ2; helicase with zinc finger domain 2
Names
ATP-dependent RNA helicase PRIC285
ATP-dependent helicase PRIC285
PDIP1
PPAR gamma DBD-interacting protein 1
PPAR-alpha-interacting complex protein 285
PPAR-gamma DNA-binding domain-interacting protein 1
PPARG-DBD-interacting protein 1
PPARgamma-DNA-binding domain-interacting protein1
PRIC complex
helicase with zinc finger 2, transcriptional coactivator
peroxisomal proliferator-activated receptor A interacting complex 285
peroxisomal proliferator-activated receptor A-interacting complex 285 kDa protein
peroxisomal proliferator-activated receptor alpha-interacting cofactor complex, 285 kD subunit
NP_001032412.2
NP_208384.3
XP_024307774.1
XP_054180151.1

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_001037335.2 → NP_001032412.2  3'-5' exoribonuclease HELZ2 isoform 1

    See identical proteins and their annotated locations for NP_001032412.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
    Source sequence(s)
    AB201715, AK074171, AL121829
    Consensus CDS
    CCDS33508.1
    UniProtKB/Swiss-Prot
    Q3C2G2, Q4VXQ1, Q8TEF3, Q96ND3, Q9BYK8, Q9C094
    Related
    ENSP00000417401.1, ENST00000467148.2
    Conserved Domains (6) summary
    cd00009
    Location:519 → 590
    AAA; The AAA+ (ATPases Associated with a wide variety of cellular Activities) superfamily represents an ancient group of ATPases belonging to the ASCE (for additional strand, catalytic E) division of the P-loop NTPase fold. The ASCE division also includes ABC, ...
    smart00955
    Location:1334 → 1693
    RNB; This domain is the catalytic domain of ribonuclease II
    COG1112
    Location:642 → 938
    DNA2; Superfamily I DNA and/or RNA helicase [Replication, recombination and repair]
    pfam13086
    Location:2152 → 2399
    AAA_11; AAA domain
    pfam13087
    Location:2406 → 2611
    AAA_12; AAA domain
    cl22977
    Location:715 → 915
    UvrD_C_2; UvrD-like helicase C-terminal domain

  2. NM_033405.3 → NP_208384.3  3'-5' exoribonuclease HELZ2 isoform 2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) differs at the 5' end compared to variant 1. It encodes isoform 2, which has a shorter, distinct N-terminus compared to isoform 1.
    Source sequence(s)
    AK074171, AL121829
    Consensus CDS
    CCDS13527.1
    UniProtKB/TrEMBL
    A7E2C9
    Related
    ENSP00000393257.2, ENST00000427522.6
    Conserved Domains (5) summary
    smart00955
    Location:765 → 1124
    RNB; This domain is the catalytic domain of ribonuclease II
    COG1112
    Location:73 → 369
    DNA2; Superfamily I DNA and/or RNA helicase [Replication, recombination and repair]
    pfam13086
    Location:1583 → 1830
    AAA_11; AAA domain
    pfam13087
    Location:1837 → 2042
    AAA_12; AAA domain
    cl22977
    Location:146 → 346
    UvrD_C_2; UvrD-like helicase C-terminal 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_000020.11 Reference GRCh38.p14 Primary Assembly

    Range
    63558086..63574239 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_024452006.2 → XP_024307774.1  helicase with zinc finger domain 2 isoform X1

    UniProtKB/Swiss-Prot
    Q3C2G2, Q4VXQ1, Q8TEF3, Q96ND3, Q9BYK8, Q9C094
    Conserved Domains (6) summary
    smart00451
    Location:39 → 69
    ZnF_U1; U1-like zinc finger
    smart00955
    Location:1334 → 1693
    RNB; This domain is the catalytic domain of ribonuclease II
    pfam13086
    Location:2180 → 2427
    AAA_11; AAA domain
    pfam13087
    Location:2434 → 2639
    AAA_12; AAA domain
    cl22977
    Location:715 → 915
    UvrD_C_2; UvrD-like helicase C-terminal domain
    cl26261
    Location:541 → 705
    AAA_11; AAA domain

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060944.1 Alternate T2T-CHM13v2.0

    Range
    65370683..65387688 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054324176.1 → XP_054180151.1  helicase with zinc finger domain 2 isoform X1

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q9BYK8.7 GenPept UniProtKB/Swiss-Prot:Q9BYK8

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