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

Gene ID: 85441, updated on 21-Dec-2017
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; Vega:OTTHUMG00000032969
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
Location:
20q13.33
Exon count:
20
Annotation release Status Assembly Chr Location
108 current GRCh38.p7 (GCF_000001405.33) 20 NC_000020.11 (63558086..63574239, complement)
105 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 src-related kinase lacking C-terminal regulatory tyrosine and N-terminal myristylation sites Neighboring gene fibronectin type III domain containing 11 Neighboring gene glucocorticoid modulatory element binding protein 2 Neighboring gene melanoma highly expressed competing endogenous lncRNA for miR-425 and miR-489

  • 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 Jun 15 11:32:44 2016

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

  • Activation of gene expression by SREBF (SREBP), organism-specific biosystem (from REACTOME)
    Activation of gene expression by SREBF (SREBP), organism-specific biosystemAfter transiting to the nucleus SREBPs (SREBP1A/1C/2, SREBFs) bind short sequences, sterol regulatory elements (SREs), in the promoters of target genes (reviewed in Eberle et al. 2004, Weber et al. 2...
  • BMAL1:CLOCK,NPAS2 activates circadian gene expression, organism-specific biosystem (from REACTOME)
    BMAL1:CLOCK,NPAS2 activates circadian gene expression, organism-specific biosystemAs inferred from mouse, BMAL1:CLOCK (ARNTL:CLOCK) and BMAL1:NPAS2 (ARNTL:NPAS2) heterodimers bind to sequence elements (E boxes) in the promoters of target genes and enhance transcription (Gekakis et...
  • Circadian Clock, organism-specific biosystem (from REACTOME)
    Circadian Clock, organism-specific biosystemAt the center of the mammalian circadian clock is a negative transcription/translation-based feedback loop: The BMAL1:CLOCK/NPAS2 (ARNTL:CLOCK/NPAS2) heterodimer transactivates CRY and PER genes by b...
  • Developmental Biology, organism-specific biosystem (from REACTOME)
    Developmental Biology, organism-specific biosystemAs a first step towards capturing the array of processes by which a fertilized egg gives rise to the diverse tissues of the body, examples of three kinds of processes have been annotated. These are a...
  • Fatty acid, triacylglycerol, and ketone body metabolism, organism-specific biosystem (from REACTOME)
    Fatty acid, triacylglycerol, and ketone body metabolism, organism-specific biosystemThe reactions involved in the metabolism of fatty acids and of the triacylglycerols and ketone bodies derived from them form a closely interrelated, coordinately regulated module that plays a central...
  • Gene Expression, organism-specific biosystem (from REACTOME)
    Gene Expression, organism-specific biosystemGene Expression covers the pathways by which genomic DNA is transcribed to yield RNA, the regulation of these transcription processes, and the pathways by which newly-made RNA Transcripts are process...
  • Generic Transcription Pathway, organism-specific biosystem (from REACTOME)
    Generic Transcription Pathway, organism-specific biosystemOVERVIEW OF TRANSCRIPTION REGULATION: Detailed studies of gene transcription regulation in a wide variety of eukaryotic systems has revealed the general principles and mechanisms by which cell- or t...
  • Metabolism, organism-specific biosystem (from REACTOME)
    Metabolism, organism-specific biosystemMetabolic processes in human cells generate energy through the oxidation of molecules consumed in the diet and mediate the synthesis of diverse essential molecules not taken in the diet as well as th...
  • Metabolism of lipids and lipoproteins, organism-specific biosystem (from REACTOME)
    Metabolism of lipids and lipoproteins, organism-specific biosystemLipids are hydrophobic but otherwise chemically diverse molecules that play a wide variety of roles in human biology. They include ketone bodies, fatty acids, triacylglycerols, phospholipids and sphi...
  • Mitochondrial biogenesis, organism-specific biosystem (from REACTOME)
    Mitochondrial biogenesis, organism-specific biosystemMitochondrial biogenesis and remodeling occur in response to exercise and redox state (reviewed in Scarpulla et al. 2012, Handy and Loscalzo 2012, Piantadosi and Suliman 2012, Scarpulla 2011, Wenz et...
  • Organelle biogenesis and maintenance, organism-specific biosystem (from REACTOME)
    Organelle biogenesis and maintenance, organism-specific biosystemThis module describes the biogenesis of organelles. Organelles are subcellular structures of distinctive morphology and function. The organelles of human cells include: mitochondria, endoplasmic reti...
  • PPARA activates gene expression, organism-specific biosystem (from REACTOME)
    PPARA activates gene expression, organism-specific biosystemThe set of genes regulated by PPAR-alpha is not fully known in humans, however many examples have been found in mice. Genes directly activated by PPAR-alpha contain peroxisome proliferator receptor e...
  • RORA activates gene expression, organism-specific biosystem (from REACTOME)
    RORA activates gene expression, organism-specific biosystemAs inferred from mouse, RORA binds ROR elements (ROREs) in DNA and recruits the coactivators PPARGC1A (PGC-1alpha) and p300 (EP300, a histone acetylase) to activate transcription.
  • Regulation of cholesterol biosynthesis by SREBP (SREBF), organism-specific biosystem (from REACTOME)
    Regulation of cholesterol biosynthesis by SREBP (SREBF), organism-specific biosystemSterol regulatory element binding proteins (SREBPs, SREBFs) respond to low cholesterol concentrations by transiting to the nucleus and activating genes involved in cholesterol and lipid biosynthesis ...
  • Regulation of lipid metabolism by Peroxisome proliferator-activated receptor alpha (PPARalpha), organism-specific biosystem (from REACTOME)
    Regulation of lipid metabolism by Peroxisome proliferator-activated receptor alpha (PPARalpha), organism-specific biosystemPeroxisome proliferator-activated receptor alpha (PPAR-alpha) is the major regulator of fatty acid oxidation in the liver. PPARalpha is also the target of fibrate drugs used to treat abnormal plasma ...
  • Transcriptional activation of mitochondrial biogenesis, organism-specific biosystem (from REACTOME)
    Transcriptional activation of mitochondrial biogenesis, organism-specific biosystemPhosphorylated PPARGC1A (PGC-1alpha) does not bind DNA directly but instead interacts with other transcription factors, notably NRF1 and NRF2 (via HCF1). NRF1 and NRF2 together with PPARGC1A activate...
  • Transcriptional regulation of white adipocyte differentiation, organism-specific biosystem (from REACTOME)
    Transcriptional regulation of white adipocyte differentiation, organism-specific biosystemAdipogenesis is the process of cell differentiation by which preadipocytes become adipocytes. During this process the preadipocytes cease to proliferate, begin to accumulate lipid droplets and develo...
  • YAP1- and WWTR1 (TAZ)-stimulated gene expression, organism-specific biosystem (from REACTOME)
    YAP1- and WWTR1 (TAZ)-stimulated gene expression, organism-specific biosystemYAP1 and WWTR1 (TAZ) are transcriptional co-activators, both homologues of the Drosophila Yorkie protein. They both interact with members of the TEAD family of transcription factors, and WWTR1 intera...
Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Clone Names

  • FLJ00244, KIAA1769, MGC132634, MGC138228

Gene Ontology Provided by GOA

Function Evidence Code Pubs
ATP binding IEA
Inferred from Electronic Annotation
more info
 
DNA binding IEA
Inferred from Electronic Annotation
more info
 
RNA binding HDA PubMed 
helicase activity IEA
Inferred from Electronic Annotation
more info
 
ligand-dependent nuclear receptor transcription coactivator activity IDA
Inferred from Direct Assay
more info
PubMed 
metal ion binding IEA
Inferred from Electronic Annotation
more info
 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
positive regulation of transcription from RNA polymerase II promoter IDA
Inferred from Direct Assay
more info
PubMed 
regulation of lipid metabolic process TAS
Traceable Author Statement
more info
 
transcription, DNA-templated IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
membrane HDA PubMed 
nucleoplasm TAS
Traceable Author Statement
more info
 
Preferred Names
helicase with zinc finger domain 2
Names
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

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_001037335.2NP_001032412.2  helicase with zinc finger domain 2 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
    Q9BYK8
    Related
    ENSP00000417401.1, OTTHUMP00000214531, ENST00000467148.1, OTTHUMT00000354127
    Conserved Domains (6) summary
    cd00009
    Location:519590
    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:13341693
    RNB; This domain is the catalytic domain of ribonuclease II
    COG1112
    Location:642938
    DNA2; Superfamily I DNA and/or RNA helicase [Replication, recombination and repair]
    pfam13086
    Location:21522399
    AAA_11; AAA domain
    pfam13087
    Location:24062611
    AAA_12; AAA domain
    cl22977
    Location:715915
    UvrD_C_2; UvrD-like helicase C-terminal domain
  2. NM_033405.3NP_208384.3  helicase with zinc finger domain 2 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/Swiss-Prot
    Q9BYK8
    Related
    ENSP00000393257.2, OTTHUMP00000031553, ENST00000427522.6, OTTHUMT00000080139
    Conserved Domains (5) summary
    smart00955
    Location:7651124
    RNB; This domain is the catalytic domain of ribonuclease II
    COG1112
    Location:73369
    DNA2; Superfamily I DNA and/or RNA helicase [Replication, recombination and repair]
    pfam13086
    Location:15831830
    AAA_11; AAA domain
    pfam13087
    Location:18372042
    AAA_12; AAA domain
    cl22977
    Location:146346
    UvrD_C_2; UvrD-like helicase C-terminal domain

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 108

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

Reference GRCh38.p7 Primary Assembly

Genomic

  1. NC_000020.11 Reference GRCh38.p7 Primary Assembly

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

Alternate CHM1_1.1

Genomic

  1. NC_018931.2 Alternate CHM1_1.1

    Range
    62090447..62106588 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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