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Entry version 177 (12 Aug 2020)
Sequence version 2 (20 Jan 2009)
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Protein

Probable helicase with zinc finger domain

Gene

HELZ

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

May act as a helicase that plays a role in RNA metabolism in multiple tissues and organs within the developing embryo.

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 fingeri178 – 206C3H1-typePROSITE-ProRule annotationAdd BLAST29
<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 bindingi668 – 675ATPSequence 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 functionHelicase, Hydrolase
LigandATP-binding, Metal-binding, Nucleotide-binding, Zinc

Enzyme and pathway databases

Pathway Commons web resource for biological pathway data

More...
PathwayCommonsi
P42694

<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:
Probable helicase with zinc finger domain (EC:3.6.4.-)
Alternative name(s):
Down-regulated in human cancers protein
<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:HELZ
Synonyms:DRHC, KIAA0054
<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 lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
<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 17

Organism-specific databases

Eukaryotic Pathogen Database Resources

More...
EuPathDBi
HostDB:ENSG00000198265.11

Human Gene Nomenclature Database

More...
HGNCi
HGNC:16878, HELZ

Online Mendelian Inheritance in Man (OMIM)

More...
MIMi
606699, gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_P42694

<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
9931

Open Targets

More...
OpenTargetsi
ENSG00000198265

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...
Pharosi
P42694, Tbio

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
HELZ

Domain mapping of disease mutations (DMDM)

More...
DMDMi
221222452

<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_00000891851 – 1942Probable helicase with zinc finger domainAdd BLAST1942

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 residuei248PhosphoserineCombined sources1
Modified residuei1163PhosphothreonineCombined sources1
Modified residuei1245Omega-N-methylarginineCombined sources1
Modified residuei1614PhosphoserineCombined sources1
Modified residuei1645PhosphoserineCombined sources1
Modified residuei1738PhosphoserineCombined sources1
Modified residuei1741PhosphoserineCombined sources1
Modified residuei1766PhosphoserineCombined sources1

Keywords - PTMi

Methylation, Phosphoprotein

Proteomic databases

Encyclopedia of Proteome Dynamics

More...
EPDi
P42694

jPOST - Japan Proteome Standard Repository/Database

More...
jPOSTi
P42694

MassIVE - Mass Spectrometry Interactive Virtual Environment

More...
MassIVEi
P42694

MaxQB - The MaxQuant DataBase

More...
MaxQBi
P42694

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

More...
PaxDbi
P42694

PeptideAtlas

More...
PeptideAtlasi
P42694

PRoteomics IDEntifications database

More...
PRIDEi
P42694

ProteomicsDB: a multi-organism proteome resource

More...
ProteomicsDBi
55539 [P42694-1]

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...
iPTMneti
P42694

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

More...
PhosphoSitePlusi
P42694

<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 predominantly in thymus and brain. Expression is down-regulated in 28 of 95 tested cancer cell lines.1 Publication

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...
Bgeei
ENSG00000198265, Expressed in intestine and 250 other tissues

ExpressionAtlas, Differential and Baseline Expression

More...
ExpressionAtlasi
P42694, baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...
Genevisiblei
P42694, HS

Organism-specific databases

Human Protein Atlas

More...
HPAi
ENSG00000198265, 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 SMYD2 (By similarity).

Interacts with POLR2A.

Interacts with SMYD3; the interaction may bridge SMYD3 and RNA polymerase II.

By similarity1 Publication

<p>This subsection of the '<a href="http://www.uniprot.org/help/interaction%5Fsection">Interaction</a>' section provides information about binary protein-protein interactions. The data presented in this section are a quality-filtered subset of binary interactions automatically derived from the <a href="https://www.ebi.ac.uk/intact/">IntAct database</a>. It is updated at every <a href="http://www.uniprot.org/help/synchronization">UniProt release</a>.<p><a href='/help/binary_interactions' target='_top'>More...</a></p>Binary interactionsi

Protein-protein interaction databases

Database of interacting proteins

More...
DIPi
DIP-39352N

Protein interaction database and analysis system

More...
IntActi
P42694, 33 interactors

Molecular INTeraction database

More...
MINTi
P42694

STRING: functional protein association networks

More...
STRINGi
9606.ENSP00000351524

Miscellaneous databases

RNAct, Protein-RNA interaction predictions for model organisms.

More...
RNActi
P42694, 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

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>Motifi794 – 797DEAA box4

<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 fingeri178 – 206C3H1-typePROSITE-ProRule annotationAdd BLAST29

Keywords - Domaini

Zinc-finger

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...
eggNOGi
KOG1804, Eukaryota

Ensembl GeneTree

More...
GeneTreei
ENSGT00940000156686

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...
HOGENOMi
CLU_001451_0_0_1

InParanoid: Eukaryotic Ortholog Groups

More...
InParanoidi
P42694

Database of Orthologous Groups

More...
OrthoDBi
286011at2759

Database for complete collections of gene phylogenies

More...
PhylomeDBi
P42694

TreeFam database of animal gene trees

More...
TreeFami
TF323999

Family and domain databases

Conserved Domains Database

More...
CDDi
cd18808, SF1_C_Upf1, 1 hit

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
IPR027417, P-loop_NTPase
IPR000571, Znf_CCCH
IPR036855, Znf_CCCH_sf

Pfam protein domain database

More...
Pfami
View protein in Pfam
PF13086, AAA_11, 2 hits
PF13087, AAA_12, 1 hit
PF00642, zf-CCCH, 1 hit

Simple Modular Architecture Research Tool; a protein domain database

More...
SMARTi
View protein in SMART
SM00356, ZnF_C3H1, 1 hit

Superfamily database of structural and functional annotation

More...
SUPFAMi
SSF52540, SSF52540, 1 hit
SSF90229, SSF90229, 1 hit

PROSITE; a protein domain and family database

More...
PROSITEi
View protein in PROSITE
PS50103, ZF_C3H1, 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 (2+)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 2 <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

This entry has 2 described isoforms and 5 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: P42694-1) [UniParc]FASTAAdd to basket

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
MEDRRAEKSC EQACESLKRQ DYEMALKHCT EALLSLGQYS MADFTGPCPL
60 70 80 90 100
EIERIKIESL LYRIASFLQL KNYVQADEDC RHVLGEGLAK GEDAFRAVLC
110 120 130 140 150
CMQLKGKLQP VSTILAKSLT GESLNGMVTK DLTRLKTLLS ETETATSNAL
160 170 180 190 200
SGYHVEDLDE GSCNGWHFRP PPRGITSSEE YTLCKRFLEQ GICRYGAQCT
210 220 230 240 250
SAHSQEELAE WQKRYASRLI KLKQQNENKQ LSGSYMETLI EKWMNSLSPE
260 270 280 290 300
KVLSECIEGV KVEHNPDLSV TVSTKKSHQT WTFALTCKPA RMLYRVALLY
310 320 330 340 350
DAHRPHFSII AISAGDSTTQ VSQEVPENCQ EWIGGKMAQN GLDHYVYKVG
360 370 380 390 400
IAFNTEIFGT FRQTIVFDFG LEPVLMQRVM IDAASTEDLE YLMHAKQQLV
410 420 430 440 450
TTAKRWDSSS KTIIDFEPNE TTDLEKSLLI RYQIPLSADQ LFTQSVLDKS
460 470 480 490 500
LTKSNYQSRL HDLLYIEEIA QYKEISKFNL KVQLQILASF MLTGVSGGAK
510 520 530 540 550
YAQNGQLFGR FKLTETLSED TLAGRLVMTK VNAVYLLPVP KQKLVQTQGT
560 570 580 590 600
KEKVYEATIE EKTKEYIFLR LSRECCEELN LRPDCDTQVE LQFQLNRLPL
610 620 630 640 650
CEMHYALDRI KDNGVLFPDI SMTPTIPWSP NRQWDEQLDP RLNAKQKEAV
660 670 680 690 700
LAITTPLAIQ LPPVLIIGPY GTGKTFTLAQ AVKHILQQQE TRILICTHSN
710 720 730 740 750
SAADLYIKDY LHPYVEAGNP QARPLRVYFR NRWVKTVHPV VHQYCLISSA
760 770 780 790 800
HSTFQMPQKE DILKHRVVVV TLNTSQYLCQ LDLEPGFFTH ILLDEAAQAM
810 820 830 840 850
ECETIMPLAL ATQNTRIVLA GDHMQLSPFV YSEFARERNL HVSLLDRLYE
860 870 880 890 900
HYPAEFPCRI LLCENYRSHE AIINYTSELF YEGKLMASGK QPAHKDFYPL
910 920 930 940 950
TFFTARGEDV QEKNSTAFYN NAEVFEVVER VEELRRKWPV AWGKLDDGSI
960 970 980 990 1000
GVVTPYADQV FRIRAELRKK RLSDVNVERV LNVQGKQFRV LFLSTVRTRH
1010 1020 1030 1040 1050
TCKHKQTPIK KKEQLLEDST EDLDYGFLSN YKLLNTAITR AQSLVAVVGD
1060 1070 1080 1090 1100
PIALCSIGRC RKFWERFIAL CHENSSLHGI TFEQIKAQLE ALELKKTYVL
1110 1120 1130 1140 1150
NPLAPEFIPR ALRLQHSGST NKQQQSPPKG KSLHHTQNDH FQNDGIVQPN
1160 1170 1180 1190 1200
PSVLIGNPIR AYTPPPPLGP HPNLGKSPSP VQRIDPHTGT SILYVPAVYG
1210 1220 1230 1240 1250
GNVVMSVPLP VPWTGYQGRF AVDPRIITHQ AAMAYNMNLL QTHGRGSPIP
1260 1270 1280 1290 1300
YGLGHHPPVT IGQPQNQHQE KDQHEQNRNG KSDTNNSGPE INKIRTPEKK
1310 1320 1330 1340 1350
PTEPKQVDLE SNPQNRSPES RPSVVYPSTK FPRKDNLNPR HINLPLPAPH
1360 1370 1380 1390 1400
AQYAIPNRHF HPLPQLPRPP FPIPQQHTLL NQQQNNLPEQ PNQIPPQPNQ
1410 1420 1430 1440 1450
VVQQQSQLNQ QPQQPPPQLS PAYQAGPNNA FFNSAVAHRP QSPPAEAVIP
1460 1470 1480 1490 1500
EQQPPPMLQE GHSPLRAIAQ PGPILPSHLN SFIDENPSGL PIGEALDRIH
1510 1520 1530 1540 1550
GSVALETLRQ QQARFQQWSE HHAFLSQGSA PYPHHHHPHL QHLPQPPLGL
1560 1570 1580 1590 1600
HQPPVRADWK LTSSAEDEVE TTYSRFQDLI RELSHRDQSE TRELAEMPPP
1610 1620 1630 1640 1650
QSRLLQYRQV QSRSPPAVPS PPSSTDHSSH FSNFNDNSRD IEVASNPAFP
1660 1670 1680 1690 1700
QRLPPQIFNS PFSLPSEHLA PPPLKYLAPD GAWTFANLQQ NHLMGPGFPY
1710 1720 1730 1740 1750
GLPPLPHRPP QNPFVQIQNH QHAIGQEPFH PLSSRTVSSS SLPSLEEYEP
1760 1770 1780 1790 1800
RGPGRPLYQR RISSSSVQPC SEEVSTPQDS LAQCKELQDH SNQSSFNFSS
1810 1820 1830 1840 1850
PESWVNTTSS TPYQNIPCNG SSRTAQPREL IAPPKTVKPP EDQLKSENLE
1860 1870 1880 1890 1900
VSSSFNYSVL QHLGQFPPLM PNKQIAESAN SSSPQSSAGG KPAMSYASAL
1910 1920 1930 1940
RAPPKPRPPP EQAKKSSDPL SLFQELSLGS SSGSNGFYSY FK
Length:1,942
Mass (Da):218,970
Last modified:January 20, 2009 - v2
<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:iB2EA41681C1A327D
GO
Isoform 2 (identifier: P42694-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     691-691: T → TS
     1130-1162: GKSLHHTQNDHFQNDGIVQPNPSVLIGNPIRAY → VKPLLMKLKRLKGENFAEVPKVYWDASYFKCWN
     1163-1942: Missing.

Show »
Length:1,163
Mass (Da):133,060
Checksum:i7E7DE68763BF9A24
GO

<p>In eukaryotic reference proteomes, unreviewed entries that are likely to belong to the same gene are computationally mapped, based on gene identifiers from Ensembl, EnsemblGenomes and model organism databases.<p><a href='/help/gene_centric_isoform_mapping' target='_top'>More...</a></p>Computationally mapped potential isoform sequencesi

There are 5 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
J3QS41J3QS41_HUMAN
Probable helicase with zinc finger ...
HELZ
1,943Annotation score:

Annotation score:2 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>
A0A075B6R3A0A075B6R3_HUMAN
Probable helicase with zinc finger ...
HELZ
567Annotation score:

Annotation score:1 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>
J3QRR8J3QRR8_HUMAN
Probable helicase with zinc finger ...
HELZ
193Annotation score:

Annotation score:1 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>
J3KT20J3KT20_HUMAN
Probable helicase with zinc finger ...
HELZ
103Annotation score:

Annotation score:1 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>
J3KS59J3KS59_HUMAN
Probable helicase with zinc finger ...
HELZ
65Annotation score:

Annotation score:1 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>

<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 BAA06147 differs from that shown. Reason: Erroneous initiation.Curated

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_05727348C → R. Corresponds to variant dbSNP:rs2302669Ensembl.1
Natural variantiVAR_05727474V → M. Corresponds to variant dbSNP:rs8080100Ensembl.1
Natural variantiVAR_0572751530A → V. Corresponds to variant dbSNP:rs11653020Ensembl.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_054493691T → TS in isoform 2. 1 Publication1
Alternative sequenceiVSP_0544941130 – 1162GKSLH…PIRAY → VKPLLMKLKRLKGENFAEVP KVYWDASYFKCWN in isoform 2. 1 PublicationAdd BLAST33
Alternative sequenceiVSP_0544951163 – 1942Missing in isoform 2. 1 PublicationAdd BLAST780

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
D29677 mRNA Translation: BAA06147.3 Different initiation.
AC005544 Genomic DNA No translation available.
AC007448 Genomic DNA No translation available.
BC094881 mRNA Translation: AAH94881.1

The Consensus CDS (CCDS) project

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CCDSi
CCDS42374.1 [P42694-1]

NCBI Reference Sequences

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RefSeqi
NP_055692.2, NM_014877.3 [P42694-1]

Genome annotation databases

Ensembl eukaryotic genome annotation project

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Ensembli
ENST00000358691; ENSP00000351524; ENSG00000198265 [P42694-1]
ENST00000579953; ENSP00000463727; ENSG00000198265 [P42694-2]

Database of genes from NCBI RefSeq genomes

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GeneIDi
9931

KEGG: Kyoto Encyclopedia of Genes and Genomes

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KEGGi
hsa:9931

UCSC genome browser

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UCSCi
uc002jfx.5, human [P42694-1]

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
D29677 mRNA Translation: BAA06147.3 Different initiation.
AC005544 Genomic DNA No translation available.
AC007448 Genomic DNA No translation available.
BC094881 mRNA Translation: AAH94881.1
CCDSiCCDS42374.1 [P42694-1]
RefSeqiNP_055692.2, NM_014877.3 [P42694-1]

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

DIPiDIP-39352N
IntActiP42694, 33 interactors
MINTiP42694
STRINGi9606.ENSP00000351524

PTM databases

iPTMnetiP42694
PhosphoSitePlusiP42694

Polymorphism and mutation databases

BioMutaiHELZ
DMDMi221222452

Proteomic databases

EPDiP42694
jPOSTiP42694
MassIVEiP42694
MaxQBiP42694
PaxDbiP42694
PeptideAtlasiP42694
PRIDEiP42694
ProteomicsDBi55539 [P42694-1]

Protocols and materials databases

Antibodypedia a portal for validated antibodies

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Antibodypediai
31693, 87 antibodies

Genome annotation databases

EnsembliENST00000358691; ENSP00000351524; ENSG00000198265 [P42694-1]
ENST00000579953; ENSP00000463727; ENSG00000198265 [P42694-2]
GeneIDi9931
KEGGihsa:9931
UCSCiuc002jfx.5, human [P42694-1]

Organism-specific databases

Comparative Toxicogenomics Database

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CTDi
9931
DisGeNETi9931
EuPathDBiHostDB:ENSG00000198265.11

GeneCards: human genes, protein and diseases

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GeneCardsi
HELZ
HGNCiHGNC:16878, HELZ
HPAiENSG00000198265, Low tissue specificity
MIMi606699, gene
neXtProtiNX_P42694
OpenTargetsiENSG00000198265

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
GeneTreeiENSGT00940000156686
HOGENOMiCLU_001451_0_0_1
InParanoidiP42694
OrthoDBi286011at2759
PhylomeDBiP42694
TreeFamiTF323999

Enzyme and pathway databases

PathwayCommonsiP42694

Miscellaneous databases

BioGRID ORCS database of CRISPR phenotype screens

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BioGRID-ORCSi
9931, 15 hits in 872 CRISPR screens

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

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ChiTaRSi
HELZ, human

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

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GenomeRNAii
9931
PharosiP42694, Tbio

Protein Ontology

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PROi
PR:P42694
RNActiP42694, protein

The Stanford Online Universal Resource for Clones and ESTs

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SOURCEi
Search...

Gene expression databases

BgeeiENSG00000198265, Expressed in intestine and 250 other tissues
ExpressionAtlasiP42694, baseline and differential
GenevisibleiP42694, HS

Family and domain databases

CDDicd18808, SF1_C_Upf1, 1 hit
InterProiView protein in InterPro
IPR041679, DNA2/NAM7-like_AAA
IPR041677, DNA2/NAM7_AAA_11
IPR027417, P-loop_NTPase
IPR000571, Znf_CCCH
IPR036855, Znf_CCCH_sf
PfamiView protein in Pfam
PF13086, AAA_11, 2 hits
PF13087, AAA_12, 1 hit
PF00642, zf-CCCH, 1 hit
SMARTiView protein in SMART
SM00356, ZnF_C3H1, 1 hit
SUPFAMiSSF52540, SSF52540, 1 hit
SSF90229, SSF90229, 1 hit
PROSITEiView protein in PROSITE
PS50103, ZF_C3H1, 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 nameiHELZ_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: P42694
Secondary accession number(s): I6L9H4
<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: November 1, 1995
Last sequence update: January 20, 2009
Last modified: August 12, 2020
This is version 177 of the entry and version 2 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 17
    Human chromosome 17: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  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. SIMILARITY comments
    Index of protein domains and families
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