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UniProtKB - Q9BYK8 (HELZ2_HUMAN)

Entry version 192 (10 Feb 2021)
Sequence version 6 (11 Jan 2011)
Previous versions | rss
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Protein

Helicase with zinc finger domain 2

Gene

HELZ2

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score:

Annotation score:5 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>-Experimental evidence at protein leveli <p>This indicates the type of evidence that supports the existence of the protein. Note that the 'protein existence' evidence does not give information on the accuracy or correctness of the sequence(s) displayed.<p><a href='/help/protein_existence' target='_top'>More...</a></p>

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>Functioni

Helicase that acts as a transcriptional coactivator for a number of nuclear receptors including PPARA, PPARG, THRA, THRB and RXRA.2 Publications

Caution

PubMed:12189208 experiments have been carried out partly in rat and partly in human.Curated

Regions

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/function%5Fsection">Function</a> section specifies the position(s) and type(s) of zinc fingers within the protein.<p><a href='/help/zn_fing' target='_top'>More...</a></p>Zinc fingeri40 – 64C2H2-type; atypicalAdd BLAST25
<p>This subsection of the <a href="http://www.uniprot.org/help/function%5Fsection">Function</a> section describes a region in the protein which binds nucleotide phosphates. It always involves more than one amino acid and includes all residues involved in nucleotide-binding.<p><a href='/help/np_bind' target='_top'>More...</a></p>Nucleotide bindingi544 – 551ATPSequence analysis8
Nucleotide bindingi2174 – 2181ATPSequence analysis8

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Molecular functioni

Complete GO annotation on QuickGO ...

GO - Biological processi

Complete GO annotation on QuickGO ...

<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywordsi

Molecular functionActivator, DNA-binding, Helicase, Hydrolase
Biological processTranscription, Transcription regulation
LigandATP-binding, Metal-binding, Nucleotide-binding, Zinc

Enzyme and pathway databases

Pathway Commons web resource for biological pathway data

More...PathwayCommonsi		Q9BYK8

Reactome - a knowledgebase of biological pathways and processes

More...Reactomei		R-HSA-1368082, RORA activates gene expression
R-HSA-1368108, BMAL1:CLOCK,NPAS2 activates circadian gene expression
R-HSA-1989781, PPARA activates gene expression
R-HSA-2151201, Transcriptional activation of mitochondrial biogenesis
R-HSA-2426168, Activation of gene expression by SREBF (SREBP)
R-HSA-381340, Transcriptional regulation of white adipocyte differentiation
R-HSA-400206, Regulation of lipid metabolism by PPARalpha
R-HSA-400253, Circadian Clock

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>Protein namesi
Recommended name:
Helicase with zinc finger domain 2
Alternative name(s):
ATP-dependent helicase PRIC285
Helicase with zinc finger 2, transcriptional coactivator
PPAR-alpha-interacting complex protein 285
PPAR-gamma DNA-binding domain-interacting protein 1
Short name:
PDIP1
Short name:
PPAR-gamma DBD-interacting protein 1
Peroxisomal proliferator-activated receptor A-interacting complex 285 kDa protein (EC:3.6.4.-)
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: 'Name', 'Synonyms', 'Ordered locus names' and 'ORF names'.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi
Name:HELZ2
Synonyms:KIAA1769, PRIC285
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the 'taxonomic identifier' or 'taxid'.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes%5Fmanual">proteome</a> can consist of several components.<br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome 20

Organism-specific databases

Human Gene Nomenclature Database

More...HGNCi		HGNC:30021, HELZ2

Online Mendelian Inheritance in Man (OMIM)

More...MIMi		611265, gene

neXtProt; the human protein knowledge platform

More...neXtProti		NX_Q9BYK8

Eukaryotic Pathogen, Vector and Host Database Resources

More...VEuPathDBi		HostDB:ENSG00000130589.16

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte & Seán O’Donoghue; Source: COMPARTMENTS

Keywords - Cellular componenti

Nucleus

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

Organism-specific databases

DisGeNET

More...DisGeNETi		85441

Open Targets

More...OpenTargetsi		ENSG00000130589

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...Pharosi		Q9BYK8, Tdark

Genetic variation databases

BioMuta curated single-nucleotide variation and disease association database

More...BioMutai		HELZ2

Domain mapping of disease mutations (DMDM)

More...DMDMi		317373591

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'PTM / Processing' section describes the extent of a polypeptide chain in the mature protein following processing or proteolytic cleavage.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00000585611 – 2649Helicase with zinc finger domain 2Add BLAST2649

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'PTM / Processing' section specifies the position and type of each modified residue excluding <a href="http://www.uniprot.org/manual/lipid">lipids</a>, <a href="http://www.uniprot.org/manual/carbohyd">glycans</a> and <a href="http://www.uniprot.org/manual/crosslnk">protein cross-links</a>.<p><a href='/help/mod_res' target='_top'>More...</a></p>Modified residuei1006PhosphoserineCombined sources1

Keywords - PTMi

Phosphoprotein

Proteomic databases

Encyclopedia of Proteome Dynamics

More...EPDi		Q9BYK8

jPOST - Japan Proteome Standard Repository/Database

More...jPOSTi		Q9BYK8

MassIVE - Mass Spectrometry Interactive Virtual Environment

More...MassIVEi		Q9BYK8

MaxQB - The MaxQuant DataBase

More...MaxQBi		Q9BYK8

PaxDb, a database of protein abundance averages across all three domains of life

More...PaxDbi		Q9BYK8

PeptideAtlas

More...PeptideAtlasi		Q9BYK8

PRoteomics IDEntifications database

More...PRIDEi		Q9BYK8

ProteomicsDB: a multi-organism proteome resource

More...ProteomicsDBi		79663 [Q9BYK8-1]
79664 [Q9BYK8-2]
79665 [Q9BYK8-4]

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...iPTMneti		Q9BYK8

Comprehensive resource for the study of protein post-translational modifications (PTMs) in human, mouse and rat.

More...PhosphoSitePlusi		Q9BYK8

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

<p>This subsection of the 'Expression' section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms. By default, the information is derived from experiments at the mRNA level, unless specified 'at protein level'.<br></br>Examples: <a href="http://www.uniprot.org/uniprot/P92958#expression">P92958</a>, <a href="http://www.uniprot.org/uniprot/Q8TDN4#expression">Q8TDN4</a>, <a href="http://www.uniprot.org/uniprot/O14734#expression">O14734</a><p><a href='/help/tissue_specificity' target='_top'>More...</a></p>Tissue specificityi

Expressed in various tissues including heart, pancreas, skeletal muscle, colon, spleen, liver, kidney, lung, peripheral blood and placenta.1 Publication

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...Bgeei		ENSG00000130589, Expressed in stomach and 126 other tissues

Genevisible search portal to normalized and curated expression data from Genevestigator

More...Genevisiblei		Q9BYK8, HS

Organism-specific databases

Human Protein Atlas

More...HPAi		ENSG00000130589, Low tissue specificity

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

<p>This subsection of the <a href="http://www.uniprot.org/help/interaction%5Fsection">'Interaction'</a> section provides information about the protein quaternary structure and interaction(s) with other proteins or protein complexes (with the exception of physiological receptor-ligand interactions which are annotated in the <a href="http://www.uniprot.org/help/function%5Fsection">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>Subunit structurei

Interacts with PPARA (via DNA-binding domain) and PPARG; the interaction stimulates the transcriptional activity of PPARA and PPARG.

Interacts with THRAP3; the interaction is direct and HELZ2 and THRAP3 synergistically enhance the transcriptional activity of PPARG. It is probably part of the peroxisome proliferator activated receptor alpha interacting complex (PRIC).

2 Publications

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGRID)

More...BioGRIDi		124528, 20 interactors

Protein interaction database and analysis system

More...IntActi		Q9BYK8, 8 interactors

STRING: functional protein association networks

More...STRINGi		9606.ENSP00000417401

Miscellaneous databases

RNAct, Protein-RNA interaction predictions for model organisms.

More...RNActi		Q9BYK8, protein

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Family and Domains' section describes a region of interest that cannot be described in other subsections.<p><a href='/help/region' target='_top'>More...</a></p>Regioni563 – 1059Interaction with THRAP31 PublicationAdd BLAST497
Regioni2135 – 2649Interaction with THRAP31 PublicationAdd BLAST515

Motif

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Family and Domains' section describes a short (usually not more than 20 amino acids) conserved sequence motif of biological significance.<p><a href='/help/motif' target='_top'>More...</a></p>Motifi667 – 670DEAA box4
Motifi1075 – 1079LXXLL motif 15
Motifi1118 – 1122LXXLL motif 25
Motifi1173 – 1177LXXLL motif 35
Motifi2012 – 2016LXXLL motif 45
Motifi2229 – 2233LXXLL motif 55

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Family and Domains' section describes the position of regions of compositional bias within the protein and the particular amino acids that are over-represented within those regions.<p><a href='/help/compbias' target='_top'>More...</a></p>Compositional biasi968 – 1059Ala-richAdd BLAST92

<p>This subsection of the 'Family and domains' section provides general information on the biological role of a domain. The term 'domain' is intended here in its wide acceptation, it may be a structural domain, a transmembrane region or a functional domain. Several domains are described in this subsection.<p><a href='/help/domain_cc' target='_top'>More...</a></p>Domaini

Contains 5 Leu-Xaa-Xaa-Leu-Leu (LXXLL) motifs. These motifs are not required for interaction with PPARG.1 Publication

<p>This subsection of the 'Family and domains' section provides information about the sequence similarity with other proteins.<p><a href='/help/sequence_similarities' target='_top'>More...</a></p>Sequence similaritiesi

Belongs to the DNA2/NAM7 helicase family.Curated

Zinc finger

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Zinc fingeri40 – 64C2H2-type; atypicalAdd BLAST25

Keywords - Domaini

Repeat, Zinc-finger

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...eggNOGi		KOG1804, Eukaryota
KOG2102, Eukaryota

Ensembl GeneTree

More...GeneTreei		ENSGT00940000160694

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...HOGENOMi		CLU_000407_0_0_1

InParanoid: Eukaryotic Ortholog Groups

More...InParanoidi		Q9BYK8

Identification of Orthologs from Complete Genome Data

More...OMAi		LGPIWEH

Database of Orthologous Groups

More...OrthoDBi		5044at2759

Database for complete collections of gene phylogenies

More...PhylomeDBi		Q9BYK8

Family and domain databases

Conserved Domains Database

More...CDDi		cd18808, SF1_C_Upf1, 2 hits

Integrated resource of protein families, domains and functional sites

More...InterProi		View protein in InterPro
IPR041679, DNA2/NAM7-like_C
IPR041677, DNA2/NAM7_AAA_11
IPR031191, HELZ2
IPR012340, NA-bd_OB-fold
IPR027417, P-loop_NTPase
IPR001900, RNase_II/R
IPR022966, RNase_II/R_CS
IPR036236, Znf_C2H2_sf

The PANTHER Classification System

More...PANTHERi		PTHR10887:SF428, PTHR10887:SF428, 1 hit

Pfam protein domain database

More...Pfami		View protein in Pfam
PF13086, AAA_11, 2 hits
PF13087, AAA_12, 2 hits
PF00773, RNB, 1 hit

Simple Modular Architecture Research Tool; a protein domain database

More...SMARTi		View protein in SMART
SM00955, RNB, 1 hit

Superfamily database of structural and functional annotation

More...SUPFAMi		SSF50249, SSF50249, 2 hits
SSF52540, SSF52540, 2 hits
SSF57667, SSF57667, 1 hit

PROSITE; a protein domain and family database

More...PROSITEi		View protein in PROSITE
PS00028, ZINC_FINGER_C2H2_1, 1 hit

<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence%5Flength">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>. The information is filed in different subsections. The current subsections and their content are listed below:<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequences (3)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences%5Fsection">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>Sequence statusi: Complete.

This entry describes 3 <p>This subsection of the 'Sequence' section lists the alternative protein sequences (isoforms) that can be generated from the same gene by a single or by the combination of up to four biological events (alternative promoter usage, alternative splicing, alternative initiation and ribosomal frameshifting). Additionally, this section gives relevant information on each alternative protein isoform. This section is only present in reviewed entries, i.e. in UniProtKB/Swiss-Prot.<p><a href='/help/alternative_products' target='_top'>More...</a></p> isoformsi produced by alternative splicing. AlignAdd to basket
Isoform 1 (identifier: Q9BYK8-1) [UniParc]FASTAAdd to basket
Also known as: PDIP1-beta

This isoform has been chosen as the <div> <p><b>What is the canonical sequence?</b><p><a href='/help/canonical_and_isoforms' target='_top'>More...</a></p>canonicali sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide
        10         20         30         40         50
MAVWEAEQLG GLQRGDLLTP PAPDGDGRTA PLGQPPGAQL YCPACLVTCH 
        60         70         80         90        100
SQEAFENHCA SSEHAQMVAF DQALPWEHRS PPPGLSKFEL CPKPDLCEYG 
       110        120        130        140        150
DACTKAHSAQ ELQEWVRRTQ AVELRGQAAW QDGLVPYQER LLAEYQRSSS 
       160        170        180        190        200
EVLVLAETLD GVRVTCNQPL MYQAQERKTQ YSWTFAVHSE EPLLHVALLK 
       210        220        230        240        250
QEPGADFSLV APGLPPGRLY ARGERFRVPS STADFQVGVR VQAASFGTFE 
       260        270        280        290        300
QWVVFDFGRR PVLLQKLGLQ LGQGRRPGPC RNLALGHPEE MERWHTGNRH 
       310        320        330        340        350
VVPGVERTAE QTALMAKYKG PALALEFNRS SVASGPISPT NYRQRMHQFL 
       360        370        380        390        400
YEEEAAQQQL VAKLTLRGQV FLKTALQTPA LNMLFAPPGA LYAEVPVPSS 
       410        420        430        440        450
LMPDTDQGFL LGRAVSTALV APVPAPDNTV FEVRLERRAS SEQALWLLLP 
       460        470        480        490        500
ARCCLALGLQ PEARLVLEVQ FQIDPMTFRL WHQAVDTLPE EQLVVPDLPT 
       510        520        530        540        550
CALPRPWSVP PLRRGNRKQE LAVALIAGWG PGDGRRVPPL LIYGPFGTGK 
       560        570        580        590        600
TYTLAMASLE VIRRPETKVL ICTHTNSAAD IYIREYFHSH VSGGHPEATP 
       610        620        630        640        650
LRVMYTDRPL SQTDPVTLQY CCLTDDRQAF RPPTRAELAR HRVVVTTTSQ 
       660        670        680        690        700
ARELRVPVGF FSHILIDEAA QMLECEALTP LAYASHGTRL VLAGDHMQVT 
       710        720        730        740        750
PRLFSVARAR AAEHTLLHRL FLCYQQETHE VARQSRLVFH ENYRCTDAIV 
       760        770        780        790        800
SFISRHFYVA KGNPIHARGK VPPHPRHYPL MFCHVAGSPD RDMSMASWLN 
       810        820        830        840        850
LAEIAQVVEK VQEAYNTWPS CWGGREQRCI CVVSHGAQVS ALRQELRRRD 
       860        870        880        890        900
LGQVSVGSFE ILPGRQFRVV VLSTVHTCQS LLSPGALAPE FFTDARVLNT 
       910        920        930        940        950
VLTRAQSQLV VVGDAVALCS FGACGKLWES FIRECVERHS VCPEGLSMEQ 
       960        970        980        990       1000
VEQGVAQRRR WPPRGTQAGA AGNWEAAPEP VGDLAEEQAA VVTAMVKAEP 
      1010       1020       1030       1040       1050
GDEALSPASR DITATTAQTE AAAAPAGDAV KEDVVPGACA AGAAAAAGVE 
      1060       1070       1080       1090       1100
STEAEDAEAD FWPWDGELNA DDAILRELLD ESQKVMVTVG EDGLLDTVAR 
      1110       1120       1130       1140       1150
PESLQQARLY ENLPPAALRK LLHAEPERYR HCSFVPETFE RASAIPLDDA 
      1160       1170       1180       1190       1200
SSGPIQVRGR LDCGMAFAGD EVLVQLLSGD KAPEGRLRGR VLGVLKRKRH 
      1210       1220       1230       1240       1250
ELAFVCRMDT WDPRIMVPIN GSVTKIFVAE LKDPSQVPIY SLRKGRLQRV 
      1260       1270       1280       1290       1300
GLERLTAEAR HSRLFWVQIV LWRQGFYYPL GIVREVLPEA STWEQGLRIL 
      1310       1320       1330       1340       1350
GLEYSLRVPP SDQATITKVL QKYHTELGRV AGRREDCRAF LTFTVDPQGA 
      1360       1370       1380       1390       1400
CNLDDALSVR DLGPRCEVAV HITDVASFVP RDGVLDVEAR RQGAAFYAPG 
      1410       1420       1430       1440       1450
REPVPMLPAS LCQDVLSLLP GRDRLAISLF LTMEKASGQL KSLRFAPSVV 
      1460       1470       1480       1490       1500
QSDRQLSYEE AEEVIRQHPG AGRELPARLD SVDACVVAAC YFSRLLRRHR 
      1510       1520       1530       1540       1550
LRSDCFYEQP DEDGTLGFRA AHIMVKEYMI QFNRLVAEFL VGSECTRTVT 
      1560       1570       1580       1590       1600
PLRWQPAPRS QQLKALCEKH GDRVPLSLHL GHHLHGGGGS PPDTRLHLLA 
      1610       1620       1630       1640       1650
SLWKQVQFAA RTQDYEQMVD LVTTDDMHPF LAPAGRDLRK ALERSAFGRC 
      1660       1670       1680       1690       1700
ARGHQQQGGH YSLQVDWYTW ATSPIRRYLD VVLQRQILLA LGHGGSAYSA 
      1710       1720       1730       1740       1750
RDIDGLCQAF SLQHALAQSY QRRARSLHLA VQLKAQPLDK LGFVVDVEAG 
      1760       1770       1780       1790       1800
SRCFRLLFPS NRETLPDPCP VPYGSLQLAE HPHALAGRPG LRLLWRRRVY 
      1810       1820       1830       1840       1850
SAQGSSPPLP LPGTVPDPHT LAVETALWKQ LLELVELQRW PEAAALIQEK 
      1860       1870       1880       1890       1900
GEASQRRELV QVQRSHCGHF LEVARELGSG DTLQVQLGTS LQHGFLVPSP 
      1910       1920       1930       1940       1950
QLWTVAPGFS LCLEHVERPG DCFSGRVYRA PRDRYRDVDE YACVWEPFCA 
      1960       1970       1980       1990       2000
LESATGAVAE NDSVTLQHLS VSWEASRTPQ GQLQGAFRLE AAFLEENCAD 
      2010       2020       2030       2040       2050
INFSCCYLCI RLEGLPAPTA SPRPGPSSLG PGLNVDPGTY TWVAHGQTQD 
      2060       2070       2080       2090       2100
WDQERRADRQ EAPRRVHLFV HHMGMEKVPE EVLRPGTLFT VELLPKQLPD 
      2110       2120       2130       2140       2150
LRKEEAVRGL EEASPLVTSI ALGRPVPQPL CRVIPSRFLE RQTYNIPGGR 
      2160       2170       2180       2190       2200
HKLNPSQNVA VREALEKPFT VIQGPPGTGK TIVGLHIVFW FHKSNQEQVQ 
      2210       2220       2230       2240       2250
PGGPPRGEKR LGGPCILYCG PSNKSVDVLA GLLLRRMELK PLRVYSEQAE 
      2260       2270       2280       2290       2300
ASEFPVPRVG SRKLLRKSPR EGRPNQSLRS ITLHHRIRQA PNPYSSEIKA 
      2310       2320       2330       2340       2350
FDTRLQRGEL FSREDLVWYK KVLWEARKFE LDRHEVILCT CSCAASASLK 
      2360       2370       2380       2390       2400
ILDVRQILVD EAGMATEPET LIPLVQFPQA EKVVLLGDHK QLRPVVKNER 
      2410       2420       2430       2440       2450
LQNLGLDRSL FERYHEDAHM LDTQYRMHEG ICAFPSVAFY KSKLKTWQGL 
      2460       2470       2480       2490       2500
RRPPSVLGHA GKESCPVIFG HVQGHERSLL VSTDEGNENS KANLEEVAEV 
      2510       2520       2530       2540       2550
VRITKQLTLG RTVEPQDIAV LTPYNAQASE ISKALRREGI AGVAVSSITK 
      2560       2570       2580       2590       2600
SQGSEWRYVL VSTVRTCAKS DLDQRPTKSW LKKFLGFVVD PNQVNVAVTR 
      2610       2620       2630       2640 
AQEGLCLIGD HLLLRCCPLW RSLLDFCEAQ QTLVPAGQVR VCRRPTMPS
Note: More abundantly expressed than isoform 2.
Length:2,649
Mass (Da):294,651
Last modified:January 11, 2011 - v6
<p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> Checksum:i419573D5AEE700D7
GO
Isoform 2 (identifier: Q9BYK8-2) [UniParc]FASTAAdd to basket
Also known as: PDIP1-alpha

The sequence of this isoform differs from the canonical sequence as follows:
     1-569: Missing.
     570-576: LICTHTN → MSSSPSR

Show »
Length:2,080
Mass (Da):231,670
Checksum:i35FB7F42FC6B1032
GO
Isoform 3 (identifier: Q9BYK8-4) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-535: Missing.
     536-576: RVPPLLIYGP...TKVLICTHTN → LTSDSQTRAV...KKPMSSSPSR

Note: Incomplete sequence.Curated
Show »
Length:2,114
Mass (Da):235,048
Checksum:i715DEB33785A56D3
GO

<p>This subsection of the 'Sequence' section reports difference(s) between the protein sequence shown in the UniProtKB entry and other available protein sequences derived from the same gene.<p><a href='/help/sequence_caution' target='_top'>More...</a></p>Sequence cautioni

The sequence BAB70969 differs from that shown. Reason: Frameshift.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Sequence' section reports difference(s) between the canonical sequence (displayed by default in the entry) and the different sequence submissions merged in the entry. These various submissions may originate from different sequencing projects, different types of experiments, or different biological samples. Sequence conflicts are usually of unknown origin.<p><a href='/help/conflict' target='_top'>More...</a></p>Sequence conflicti196V → A in BAE46995 (PubMed:16239304).Curated1
Sequence conflicti327 – 329FNR → SNH in BAE46995 (PubMed:16239304).Curated3
Sequence conflicti442E → G in BAE46995 (PubMed:16239304).Curated1
Sequence conflicti836G → D in BAE46995 (PubMed:16239304).Curated1
Sequence conflicti1873V → A in BAE46995 (PubMed:16239304).Curated1
Sequence conflicti2203G → S in BAE46995 (PubMed:16239304).Curated1
Sequence conflicti2383V → A in BAE46995 (PubMed:16239304).Curated1
Sequence conflicti2626F → L in BAE46995 (PubMed:16239304).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Sequence' section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_015597788S → N3 PublicationsCorresponds to variant dbSNP:rs438363Ensembl.1
Natural variantiVAR_0155981123H → R3 PublicationsCorresponds to variant dbSNP:rs310632Ensembl.1
Natural variantiVAR_0470381152S → L. Corresponds to variant dbSNP:rs35817585EnsemblClinVar.1
Natural variantiVAR_0470391308V → L. Corresponds to variant dbSNP:rs310631Ensembl.1
Natural variantiVAR_0470401381R → K. Corresponds to variant dbSNP:rs3810487Ensembl.1
Natural variantiVAR_0470411821L → R. Corresponds to variant dbSNP:rs3810486Ensembl.1
Natural variantiVAR_0470421889T → A. Corresponds to variant dbSNP:rs34980032Ensembl.1
Natural variantiVAR_0155992016P → L3 PublicationsCorresponds to variant dbSNP:rs3810485Ensembl.1
Natural variantiVAR_0156002049Q → E3 PublicationsCorresponds to variant dbSNP:rs3810483Ensembl.1
Natural variantiVAR_0470432170T → M. Corresponds to variant dbSNP:rs3810481Ensembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Sequence' section describes the sequence of naturally occurring alternative protein isoform(s). The changes in the amino acid sequence may be due to alternative splicing, alternative promoter usage, alternative initiation, or ribosomal frameshifting.<p><a href='/help/var_seq' target='_top'>More...</a></p>Alternative sequenceiVSP_0072971 – 569Missing in isoform 2. 2 PublicationsAdd BLAST569
Alternative sequenceiVSP_0173771 – 535Missing in isoform 3. CuratedAdd BLAST535
Alternative sequenceiVSP_017378536 – 576RVPPL…CTHTN → LTSDSQTRAVLRGSSAGHTV GALADSTEAPSKKPMSSSPS R in isoform 3. CuratedAdd BLAST41
Alternative sequenceiVSP_007298570 – 576LICTHTN → MSSSPSR in isoform 2. 2 Publications7

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

More...EMBLi

GenBank nucleotide sequence database

More...GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...DDBJi
Links Updated
AF517673 mRNA Translation: AAM74197.1
AB201715 mRNA Translation: BAE46995.1
AB051556 mRNA Translation: BAB21860.2
AL121829 Genomic DNA No translation available.
AK074171 mRNA Translation: BAB84997.1
AK055611 mRNA Translation: BAB70969.1 Frameshift.

The Consensus CDS (CCDS) project

More...CCDSi		CCDS13527.1 [Q9BYK8-2]
CCDS33508.1 [Q9BYK8-1]

NCBI Reference Sequences

More...RefSeqi		NP_001032412.2, NM_001037335.2 [Q9BYK8-1]
NP_208384.3, NM_033405.3 [Q9BYK8-2]

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...Ensembli		ENST00000427522; ENSP00000393257; ENSG00000130589 [Q9BYK8-2]
ENST00000467148; ENSP00000417401; ENSG00000130589 [Q9BYK8-1]

Database of genes from NCBI RefSeq genomes

More...GeneIDi		85441

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...KEGGi		hsa:85441

UCSC genome browser

More...UCSCi		uc002yfl.2, human [Q9BYK8-1]

Keywords - Coding sequence diversityi

Alternative splicing

<p>This section provides links to proteins that are similar to the protein sequence(s) described in this entry at different levels of sequence identity thresholds (100%, 90% and 50%) based on their membership in UniProt Reference Clusters (<a href="http://www.uniprot.org/help/uniref">UniRef</a>).<p><a href='/help/similar_proteins_section' target='_top'>More...</a></p>Similar proteinsi

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF517673 mRNA Translation: AAM74197.1
AB201715 mRNA Translation: BAE46995.1
AB051556 mRNA Translation: BAB21860.2
AL121829 Genomic DNA No translation available.
AK074171 mRNA Translation: BAB84997.1
AK055611 mRNA Translation: BAB70969.1 Frameshift.
CCDSiCCDS13527.1 [Q9BYK8-2]
CCDS33508.1 [Q9BYK8-1]
RefSeqiNP_001032412.2, NM_001037335.2 [Q9BYK8-1]
NP_208384.3, NM_033405.3 [Q9BYK8-2]

3D structure databases

Database of comparative protein structure models

More...ModBasei		Search...

SWISS-MODEL Interactive Workspace

More...SWISS-MODEL-Workspacei		Submit a new modelling project...

Protein-protein interaction databases

BioGRIDi124528, 20 interactors
IntActiQ9BYK8, 8 interactors
STRINGi9606.ENSP00000417401

PTM databases

iPTMnetiQ9BYK8
PhosphoSitePlusiQ9BYK8

Genetic variation databases

BioMutaiHELZ2
DMDMi317373591

Proteomic databases

EPDiQ9BYK8
jPOSTiQ9BYK8
MassIVEiQ9BYK8
MaxQBiQ9BYK8
PaxDbiQ9BYK8
PeptideAtlasiQ9BYK8
PRIDEiQ9BYK8
ProteomicsDBi79663 [Q9BYK8-1]
79664 [Q9BYK8-2]
79665 [Q9BYK8-4]

Protocols and materials databases

Antibodypedia a portal for validated antibodies

More...Antibodypediai		63897, 40 antibodies

Genome annotation databases

EnsembliENST00000427522; ENSP00000393257; ENSG00000130589 [Q9BYK8-2]
ENST00000467148; ENSP00000417401; ENSG00000130589 [Q9BYK8-1]
GeneIDi85441
KEGGihsa:85441
UCSCiuc002yfl.2, human [Q9BYK8-1]

Organism-specific databases

Comparative Toxicogenomics Database

More...CTDi		85441
DisGeNETi85441

GeneCards: human genes, protein and diseases

More...GeneCardsi		HELZ2
HGNCiHGNC:30021, HELZ2
HPAiENSG00000130589, Low tissue specificity
MIMi611265, gene
neXtProtiNX_Q9BYK8
OpenTargetsiENSG00000130589
VEuPathDBiHostDB:ENSG00000130589.16

Human Unidentified Gene-Encoded large proteins database

More...HUGEi		Search...

GenAtlas: human gene database

More...GenAtlasi		Search...

Phylogenomic databases

eggNOGiKOG1804, Eukaryota
KOG2102, Eukaryota
GeneTreeiENSGT00940000160694
HOGENOMiCLU_000407_0_0_1
InParanoidiQ9BYK8
OMAiLGPIWEH
OrthoDBi5044at2759
PhylomeDBiQ9BYK8

Enzyme and pathway databases

PathwayCommonsiQ9BYK8
ReactomeiR-HSA-1368082, RORA activates gene expression
R-HSA-1368108, BMAL1:CLOCK,NPAS2 activates circadian gene expression
R-HSA-1989781, PPARA activates gene expression
R-HSA-2151201, Transcriptional activation of mitochondrial biogenesis
R-HSA-2426168, Activation of gene expression by SREBF (SREBP)
R-HSA-381340, Transcriptional regulation of white adipocyte differentiation
R-HSA-400206, Regulation of lipid metabolism by PPARalpha
R-HSA-400253, Circadian Clock

Miscellaneous databases

BioGRID ORCS database of CRISPR phenotype screens

More...BioGRID-ORCSi		85441, 9 hits in 873 CRISPR screens

ChiTaRS: a database of human, mouse and fruit fly chimeric transcripts and RNA-sequencing data

More...ChiTaRSi		HELZ2, human

The Gene Wiki collection of pages on human genes and proteins

More...GeneWikii		PRIC285

Database of phenotypes from RNA interference screens in Drosophila and Homo sapiens

More...GenomeRNAii		85441
PharosiQ9BYK8, Tdark

Protein Ontology

More...PROi		PR:Q9BYK8
RNActiQ9BYK8, protein

The Stanford Online Universal Resource for Clones and ESTs

More...SOURCEi		Search...

Gene expression databases

BgeeiENSG00000130589, Expressed in stomach and 126 other tissues
GenevisibleiQ9BYK8, HS

Family and domain databases

CDDicd18808, SF1_C_Upf1, 2 hits
InterProiView protein in InterPro
IPR041679, DNA2/NAM7-like_C
IPR041677, DNA2/NAM7_AAA_11
IPR031191, HELZ2
IPR012340, NA-bd_OB-fold
IPR027417, P-loop_NTPase
IPR001900, RNase_II/R
IPR022966, RNase_II/R_CS
IPR036236, Znf_C2H2_sf
PANTHERiPTHR10887:SF428, PTHR10887:SF428, 1 hit
PfamiView protein in Pfam
PF13086, AAA_11, 2 hits
PF13087, AAA_12, 2 hits
PF00773, RNB, 1 hit
SMARTiView protein in SMART
SM00955, RNB, 1 hit
SUPFAMiSSF50249, SSF50249, 2 hits
SSF52540, SSF52540, 2 hits
SSF57667, SSF57667, 1 hit
PROSITEiView protein in PROSITE
PS00028, ZINC_FINGER_C2H2_1, 1 hit

ProtoNet; Automatic hierarchical classification of proteins

More...ProtoNeti		Search...

MobiDB: a database of protein disorder and mobility annotations

More...MobiDBi		Search...

<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

<p>This subsection of the 'Entry information' section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.<p><a href='/help/entry_name' target='_top'>More...</a></p>Entry nameiHELZ2_HUMAN
<p>This subsection of the 'Entry information' section provides one or more accession number(s). These are stable identifiers and should be used to cite UniProtKB entries. Upon integration into UniProtKB, each entry is assigned a unique accession number, which is called 'Primary (citable) accession number'.<p><a href='/help/accession_numbers' target='_top'>More...</a></p>AccessioniPrimary (citable) accession number: Q9BYK8
Secondary accession number(s): Q3C2G2
, Q4VXQ1, Q8TEF3, Q96ND3, Q9C094
<p>This subsection of the 'Entry information' section shows the date of integration of the entry into UniProtKB, the date of the last sequence update and the date of the last annotation modification ('Last modified'). The version number for both the entry and the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: April 30, 2003
Last sequence update: January 11, 2011
Last modified: February 10, 2021
This is version 192 of the entry and version 6 of the sequence. See complete history.
<p>This subsection of the 'Entry information' section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

<p>This section contains any relevant information that doesn't fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>Miscellaneousi

Keywords - Technical termi

Reference proteome

Documents

  1. Human chromosome 20
    Human chromosome 20: entries, gene names and cross-references to MIM
  2. Human entries with genetic variants
    List of human entries with genetic variants
  3. Human variants curated from literature reports
    Index of human variants curated from literature reports
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. SIMILARITY comments
    Index of protein domains and families
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