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

Summary

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

Location:: 20q13.33

Exon count:: 19

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	20	NC_000020.11 (63558086..63574239, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	20	NC_060944.1 (65370683..65387688, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	20	NC_000020.10 (62189439..62205592, complement)

Chromosome 20 - NC_000020.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues 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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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.
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.
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.
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.
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.

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Phenotypes

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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)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

PMC156606P2 (e-PCR)
- UniSTS:271409

D8S2279 (e-PCR)
- UniSTS:473907

NoName (e-PCR)
- UniSTS:486020

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 ATP-dependent H2AZ histone chaperone activity	IEA Inferred from Electronic Annotation more info
enables ATP-dependent H3-H4 histone complex chaperone activity	IEA Inferred from Electronic Annotation more info
enables DNA binding	IEA Inferred from Electronic Annotation more info
enables DNA clamp loader activity	IEA Inferred from Electronic Annotation more info
enables RNA binding	HDA more info	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 chromatin extrusion motor activity	IEA Inferred from Electronic Annotation more info
enables cohesin loader activity	IEA Inferred from Electronic Annotation more info
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 chromatin looping	IEA Inferred from Electronic Annotation more info
involved_in chromatin remodeling	IEA Inferred from Electronic Annotation more info
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 more info	PubMed
located_in nucleoplasm	TAS Traceable Author Statement more info

General protein information

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Preferred Names: 3'-5' exoribonuclease HELZ2

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; helicase with zinc finger domain 2; 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

EC 3.1.13.1

EC 3.6.4.13

NP_208384.3

EC 3.1.13.1

EC 3.6.4.13

XP_024307774.1

EC 3.1.13.1

EC 3.6.4.13

XP_054180151.1

EC 3.1.13.1

EC 3.6.4.13

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)

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

UniProtKB/TrEMBL

A0AAA9XBX5

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
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_2024_08

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000020.11 Reference GRCh38.p14 Primary Assembly

Range

63558086..63574239 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_024452006.2 → XP_024307774.1 3'-5' exoribonuclease HELZ2 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