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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
    mouse all
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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

    Gene LinkOut

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

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