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Entry version 183 (18 Sep 2019)
Sequence version 6 (11 Jan 2011)
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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_section">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_section">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

GO - Biological processi

<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

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 Peroxisome proliferator-activated receptor alpha (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_and_taxonomy_section">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_and_taxonomy_section">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_and_taxonomy_section">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_and_taxonomy_section">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_and_taxonomy_section">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 lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">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_manual">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

<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

Polymorphism and mutation 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.<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

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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 human 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 103 organ(s), highest expression level in blood

Genevisible search portal to normalized and curated expression data from Genevestigator

More...
Genevisiblei
Q9BYK8 HS

Organism-specific databases

Human Protein Atlas

More...
HPAi
HPA051267

<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_section">'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_section">'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)

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BioGridi
124528, 16 interactors

Protein interaction database and analysis system

More...
IntActi
Q9BYK8, 6 interactors

STRING: functional protein association networks

More...
STRINGi
9606.ENSP00000417401

<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
COG0557 LUCA
COG1112 LUCA

Ensembl GeneTree

More...
GeneTreei
ENSGT00940000160694

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...
HOGENOMi
HOG000231856

InParanoid: Eukaryotic Ortholog Groups

More...
InParanoidi
Q9BYK8

Identification of Orthologs from Complete Genome Data

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OMAi
RVMIPID

Database of Orthologous Groups

More...
OrthoDBi
5044at2759

Database for complete collections of gene phylogenies

More...
PhylomeDBi
Q9BYK8

Family and domain databases

Integrated resource of protein families, domains and functional sites

More...
InterProi
View protein in InterPro
IPR041679 DNA2/NAM7-like_AAA
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, 2 hits

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_length">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_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">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.<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

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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. No experimental confirmation available.
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 at position 2206.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:rs35817585Ensembl.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

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EMBLi

GenBank nucleotide sequence database

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GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

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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

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

NCBI Reference Sequences

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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

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

Database of genes from NCBI RefSeq genomes

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GeneIDi
85441

KEGG: Kyoto Encyclopedia of Genes and Genomes

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KEGGi
hsa:85441

UCSC genome browser

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UCSCi
uc002yfl.2 human [Q9BYK8-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

<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

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ModBasei
Search...

SWISS-MODEL Interactive Workspace

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

Protein-protein interaction databases

BioGridi124528, 16 interactors
IntActiQ9BYK8, 6 interactors
STRINGi9606.ENSP00000417401

PTM databases

iPTMnetiQ9BYK8
PhosphoSitePlusiQ9BYK8

Polymorphism and mutation 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

Structural Biology KnowledgebaseSearch...

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

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CTDi
85441
DisGeNETi85441

GeneCards: human genes, protein and diseases

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GeneCardsi
HELZ2
HGNCiHGNC:30021 HELZ2
HPAiHPA051267
MIMi611265 gene
neXtProtiNX_Q9BYK8
OpenTargetsiENSG00000130589

Human Unidentified Gene-Encoded large proteins database

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HUGEi
Search...

GenAtlas: human gene database

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GenAtlasi
Search...

Phylogenomic databases

eggNOGiKOG1804 Eukaryota
KOG2102 Eukaryota
COG0557 LUCA
COG1112 LUCA
GeneTreeiENSGT00940000160694
HOGENOMiHOG000231856
InParanoidiQ9BYK8
OMAiRVMIPID
OrthoDBi5044at2759
PhylomeDBiQ9BYK8

Enzyme and pathway databases

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 Peroxisome proliferator-activated receptor alpha (PPARalpha)
R-HSA-400253 Circadian Clock

Miscellaneous databases

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

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ChiTaRSi
HELZ2 human

The Gene Wiki collection of pages on human genes and proteins

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GeneWikii
PRIC285

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

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GenomeRNAii
85441

Pharos

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Pharosi
Q9BYK8

Protein Ontology

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PROi
PR:Q9BYK8

The Stanford Online Universal Resource for Clones and ESTs

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SOURCEi
Search...

Gene expression databases

BgeeiENSG00000130589 Expressed in 103 organ(s), highest expression level in blood
GenevisibleiQ9BYK8 HS

Family and domain databases

InterProiView protein in InterPro
IPR041679 DNA2/NAM7-like_AAA
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, 2 hits
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

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ProtoNeti
Search...

MobiDB: a database of protein disorder and mobility annotations

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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_and_isoforms">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: September 18, 2019
This is version 183 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

Complete proteome, Reference proteome

Documents

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