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UniProtKB - Q9NRZ9 (HELLS_HUMAN)

Entry version 150 (18 Sep 2019)
Sequence version 1 (01 Oct 2000)
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Protein

Lymphoid-specific helicase

Gene

HELLS

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

Plays an essential role in normal development and survival. Involved in regulation of the expansion or survival of lymphoid cells. Required for de novo or maintenance DNA methylation. May control silencing of the imprinted CDKN1C gene through DNA methylation. May play a role in formation and organization of heterochromatin, implying a functional role in the regulation of transcription and mitosis (By similarity).By similarity

Regions

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<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 bindingi248 – 255ATPPROSITE-ProRule annotation8

<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 functionDevelopmental protein, Helicase, Hydrolase
Biological processCell cycle, Cell division, Mitosis, Transcription, Transcription regulation
LigandATP-binding, Nucleotide-binding

<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:
Lymphoid-specific helicase (EC:3.6.4.-)
Alternative name(s):
Proliferation-associated SNF2-like protein
SWI/SNF2-related matrix-associated actin-dependent regulator of chromatin subfamily A member 6
<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:HELLSImported
Synonyms:PASG1 Publication, SMARCA6Imported
ORF Names:Nbla10143
<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 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_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 10

Organism-specific databases

Human Gene Nomenclature Database

More...HGNCi		HGNC:4861 HELLS

Online Mendelian Inheritance in Man (OMIM)

More...MIMi		603946 gene

neXtProt; the human protein knowledge platform

More...neXtProti		NX_Q9NRZ9

<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

<p>This subsection of the ‘Pathology and Biotech’ section provides information on the disease(s) associated with genetic variations in a given protein. The information is extracted from the scientific literature and diseases that are also described in the <a href="http://www.ncbi.nlm.nih.gov/sites/entrez?db=omim">OMIM</a> database are represented with a <a href="http://www.uniprot.org/diseases">controlled vocabulary</a> in the following way:<p><a href='/help/involvement_in_disease' target='_top'>More...</a></p>Involvement in diseasei

Immunodeficiency-centromeric instability-facial anomalies syndrome 4 (ICF4)1 Publication
The disease may be caused by mutations affecting the gene represented in this entry.
Disease descriptionA rare disorder characterized by a variable immunodeficiency resulting in recurrent infections, facial anomalies, and branching of chromosomes 1, 9, and 16. Other variable symptoms include growth retardation, failure to thrive, and psychomotor retardation. Laboratory studies show limited hypomethylation of DNA in a small fraction of the genome in some, but not all, patients.
Related information in OMIM
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_076582699Q → R in ICF4; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs879253733EnsemblClinVar.1
Natural variantiVAR_076583801Missing in ICF4; unknown pathological significance. 1 Publication1

Keywords - Diseasei

Disease mutation

Organism-specific databases

DisGeNET

More...DisGeNETi		3070

MalaCards human disease database

More...MalaCardsi		HELLS
MIMi616911 phenotype

Open Targets

More...OpenTargetsi		ENSG00000119969

Orphanet; a database dedicated to information on rare diseases and orphan drugs

More...Orphaneti		2268 ICF syndrome

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...PharmGKBi		PA35054

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...Pharosi		Q9NRZ9

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...BioMutai		HELLS

Domain mapping of disease mutations (DMDM)

More...DMDMi		74761670

<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_00002600511 – 838Lymphoid-specific helicaseAdd BLAST838

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 residuei115PhosphoserineCombined sources1
Modified residuei503PhosphoserineCombined sources1
Modified residuei515PhosphoserineBy similarity1

Keywords - PTMi

Phosphoprotein

Proteomic databases

Encyclopedia of Proteome Dynamics

More...EPDi		Q9NRZ9

jPOST - Japan Proteome Standard Repository/Database

More...jPOSTi		Q9NRZ9

MassIVE - Mass Spectrometry Interactive Virtual Environment

More...MassIVEi		Q9NRZ9

MaxQB - The MaxQuant DataBase

More...MaxQBi		Q9NRZ9

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

More...PaxDbi		Q9NRZ9

PeptideAtlas

More...PeptideAtlasi		Q9NRZ9

PRoteomics IDEntifications database

More...PRIDEi		Q9NRZ9

ProteomicsDB: a multi-organism proteome resource

More...ProteomicsDBi		82450 [Q9NRZ9-1]
82451 [Q9NRZ9-2]
82452 [Q9NRZ9-3]
82453 [Q9NRZ9-4]
82454 [Q9NRZ9-5]
82455 [Q9NRZ9-6]
82456 [Q9NRZ9-7]
82457 [Q9NRZ9-8]
82458 [Q9NRZ9-9]

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...iPTMneti		Q9NRZ9

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

More...PhosphoSitePlusi		Q9NRZ9

<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

Highly expressed in proliferative tissues such as adult thymus and testis, and expressed at lower levels in uterus, small intestine, colon, and peripheral blood mononuclear cells. Also expressed in neoplastic cell lines including those derived from myeloid and lymphoid leukemias.1 Publication

<p>This subsection of the ‘Expression’ section reports the experimentally proven effects of inducers and repressors (usually chemical compounds or environmental factors) on the level of protein (or mRNA) expression (up-regulation, down-regulation, constitutive expression).<p><a href='/help/induction' target='_top'>More...</a></p>Inductioni

By concanavalin-A in peripheral blood leukocytes.1 Publication

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...Bgeei		ENSG00000119969 Expressed in 159 organ(s), highest expression level in kidney

ExpressionAtlas, Differential and Baseline Expression

More...ExpressionAtlasi		Q9NRZ9 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...Genevisiblei		Q9NRZ9 HS

Organism-specific databases

Human Protein Atlas

More...HPAi		CAB004491
HPA063242

<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%27">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="http://www.ebi.ac.uk/intact/">IntAct database</a>. It is updated on a monthly basis. Each binary interaction is displayed on a separate line.<p><a href='/help/binary_interactions' target='_top'>More...</a></p>Binary interactionsi

WithEntry#Exp.IntActNotes
E2F3O007162EBI-1056215,EBI-765551

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

More...BioGridi		109320, 64 interactors

Protein interaction database and analysis system

More...IntActi		Q9NRZ9, 40 interactors

Molecular INTeraction database

More...MINTi		Q9NRZ9

STRING: functional protein association networks

More...STRINGi		9606.ENSP00000377601

<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei

3D structure databases

SWISS-MODEL Repository - a database of annotated 3D protein structure models

More...SMRi		Q9NRZ9

Database of comparative protein structure models

More...ModBasei		Search...

<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

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/family_and_domains_section">Family and Domains</a> section describes the position and type of a domain, which is defined as a specific combination of secondary structures organized into a characteristic three-dimensional structure or fold.<p><a href='/help/domain' target='_top'>More...</a></p>Domaini235 – 403Helicase ATP-bindingPROSITE-ProRule annotationAdd BLAST169
Domaini603 – 767Helicase C-terminalPROSITE-ProRule annotationAdd BLAST165

Coiled coil

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Family and domains’ section denotes the positions of regions of coiled coil within the protein.<p><a href='/help/coiled' target='_top'>More...</a></p>Coiled coili30 – 115Sequence analysisAdd BLAST86

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>Motifi354 – 357DEAH boxSequence analysis4

<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 SNF2/RAD54 helicase family.Curated

Keywords - Domaini

Coiled coil

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...eggNOGi		KOG0386 Eukaryota
COG0553 LUCA

Ensembl GeneTree

More...GeneTreei		ENSGT00740000115593

InParanoid: Eukaryotic Ortholog Groups

More...InParanoidi		Q9NRZ9

KEGG Orthology (KO)

More...KOi		K19001

Database of Orthologous Groups

More...OrthoDBi		61251at2759

Database for complete collections of gene phylogenies

More...PhylomeDBi		Q9NRZ9

TreeFam database of animal gene trees

More...TreeFami		TF329077

Family and domain databases

Gene3D Structural and Functional Annotation of Protein Families

More...Gene3Di		3.40.50.10810, 1 hit

Integrated resource of protein families, domains and functional sites

More...InterProi		View protein in InterPro
IPR014001 Helicase_ATP-bd
IPR001650 Helicase_C
IPR027417 P-loop_NTPase
IPR038718 SNF2-like_sf
IPR000330 SNF2_N

Pfam protein domain database

More...Pfami		View protein in Pfam
PF00271 Helicase_C, 1 hit
PF00176 SNF2_N, 1 hit

Simple Modular Architecture Research Tool; a protein domain database

More...SMARTi		View protein in SMART
SM00487 DEXDc, 1 hit
SM00490 HELICc, 1 hit

Superfamily database of structural and functional annotation

More...SUPFAMi		SSF52540 SSF52540, 2 hits

PROSITE; a protein domain and family database

More...PROSITEi		View protein in PROSITE
PS51192 HELICASE_ATP_BIND_1, 1 hit
PS51194 HELICASE_CTER, 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 (9+)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 9 <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

This entry has 9 described isoforms and 6 potential isoforms that are computationally mapped.Show allAlign All

Isoform 11 Publication (identifier: Q9NRZ9-1) [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
MPAERPAGSG GSEAPAMVEQ LDTAVITPAM LEEEEQLEAA GLERERKMLE 
        60         70         80         90        100
KARMSWDRES TEIRYRRLQH LLEKSNIYSK FLLTKMEQQQ LEEQKKKEKL 
       110        120        130        140        150
ERKKESLKVK KGKNSIDASE EKPVMRKKRG REDESYNISE VMSKEEILSV 
       160        170        180        190        200
AKKNKKENED ENSSSTNLCV EDLQKNKDSN SIIKDRLSET VRQNTKFFFD 
       210        220        230        240        250
PVRKCNGQPV PFQQPKHFTG GVMRWYQVEG MEWLRMLWEN GINGILADEM 
       260        270        280        290        300
GLGKTVQCIA TIALMIQRGV PGPFLVCGPL STLPNWMAEF KRFTPDIPTM 
       310        320        330        340        350
LYHGTQEERQ KLVRNIYKRK GTLQIHPVVI TSFEIAMRDR NALQHCYWKY 
       360        370        380        390        400
LIVDEGHRIK NMKCRLIREL KRFNADNKLL LTGTPLQNNL SELWSLLNFL 
       410        420        430        440        450
LPDVFDDLKS FESWFDITSL SETAEDIIAK EREQNVLHML HQILTPFLLR 
       460        470        480        490        500
RLKSDVALEV PPKREVVVYA PLSKKQEIFY TAIVNRTIAN MFGSSEKETI 
       510        520        530        540        550
ELSPTGRPKR RTRKSINYSK IDDFPNELEK LISQIQPEVD RERAVVEVNI 
       560        570        580        590        600
PVESEVNLKL QNIMMLLRKC CNHPYLIEYP IDPVTQEFKI DEELVTNSGK 
       610        620        630        640        650
FLILDRMLPE LKKRGHKVLL FSQMTSMLDI LMDYCHLRDF NFSRLDGSMS 
       660        670        680        690        700
YSEREKNMHS FNTDPEVFIF LVSTRAGGLG INLTAADTVI IYDSDWNPQS 
       710        720        730        740        750
DLQAQDRCHR IGQTKPVVVY RLVTANTIDQ KIVERAAAKR KLEKLIIHKN 
       760        770        780        790        800
HFKGGQSGLN LSKNFLDPKE LMELLKSRDY EREIKGSREK VISDKDLELL 
       810        820        830 
LDRSDLIDQM NASGPIKEKM GIFKILENSE DSSPECLF
Length:838
Mass (Da):97,074
Last modified:October 1, 2000 - v1
<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:iFE8C644C23F2526E
GO
Isoform 2 (identifier: Q9NRZ9-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-16: Missing.

Note: No experimental confirmation available.Curated
Show »
Length:822
Mass (Da):95,607
Checksum:iA309C9A880B6097D
GO
Isoform 31 Publication (identifier: Q9NRZ9-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     313-344: Missing.

Show »
Length:806
Mass (Da):93,323
Checksum:i8CA3BA80E4D0A8BF
GO
Isoform 41 Publication (identifier: Q9NRZ9-4) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     783-838: Missing.

Show »
Length:782
Mass (Da):90,766
Checksum:iFB649163E59684AA
GO
Isoform 51 Publication (identifier: Q9NRZ9-5) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     345-442: Missing.

Show »
Length:740
Mass (Da):85,387
Checksum:i8DB53162055D1DFC
GO
Isoform 61 Publication (identifier: Q9NRZ9-6) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     313-442: Missing.

Show »
Length:708
Mass (Da):81,637
Checksum:i2D3377EDAB5399EE
GO
Isoform 71 Publication (identifier: Q9NRZ9-7) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     345-345: H → L
     346-838: Missing.

Show »
Length:345
Mass (Da):39,881
Checksum:i0171AA8F1508500B
GO
Isoform 81 Publication (identifier: Q9NRZ9-8) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     313-315: VRN → IYL
     316-838: Missing.

Show »
Length:315
Mass (Da):36,407
Checksum:i3CC4A3B96843B5F6
GO
Isoform 91 Publication (identifier: Q9NRZ9-9) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     124-129: VMRKKR → GNFVCG
     130-838: Missing.

Show »
Length:129
Mass (Da):14,838
Checksum:i27119BC8DDB6D496
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 6 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
A0A0B4J1V9A0A0B4J1V9_HUMAN
Helicase, lymphoid-specific, isofor...
HELLS hCG_39170
884Annotation 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>
A0A087WSW7A0A087WSW7_HUMAN
Helicase, lymphoid-specific, isofor...
HELLS hCG_39170
700Annotation 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>
Q76H82Q76H82_HUMAN
Lymphoid specific helicase variant1
HELLS
97Annotation 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>
Q9NW36Q9NW36_HUMAN
Lymphoid-specific helicase
HELLS
310Annotation 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>
B1ALG6B1ALG6_HUMAN
Lymphoid-specific helicase
HELLS
192Annotation 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>
F6XU50F6XU50_HUMAN
Helicase, lymphoid-specific, isofor...
HELLS hCG_39170
714Annotation 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 AAG01987 differs from that shown. Reason: Erroneous initiation.Curated
The sequence AAH29381 differs from that shown. Reason: Erroneous initiation.Curated
The sequence AAH30963 differs from that shown. Reason: Erroneous initiation.Curated
The sequence AAH31004 differs from that shown. Reason: Erroneous initiation.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 conflicti136Y → F in CAD97978 (PubMed:17974005).Curated1
Sequence conflicti646D → N in CAD97978 (PubMed:17974005).Curated1
Sequence conflicti696W → C in AAH29381 (PubMed:15489334).Curated1
Sequence conflicti702L → P in BAE45737 (PubMed:12880961).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_064720616H → R Found in a renal cell carcinoma sample; somatic mutation. 1 Publication1
Natural variantiVAR_076582699Q → R in ICF4; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs879253733EnsemblClinVar.1
Natural variantiVAR_076583801Missing in ICF4; unknown pathological significance. 1 Publication1

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_0522241 – 16Missing in isoform 2. 1 PublicationAdd BLAST16
Alternative sequenceiVSP_052225124 – 129VMRKKR → GNFVCG in isoform 9. 1 Publication6
Alternative sequenceiVSP_052226130 – 838Missing in isoform 9. 1 PublicationAdd BLAST709
Alternative sequenceiVSP_052227313 – 442Missing in isoform 6. 1 PublicationAdd BLAST130
Alternative sequenceiVSP_052228313 – 344Missing in isoform 3. 1 PublicationAdd BLAST32
Alternative sequenceiVSP_052229313 – 315VRN → IYL in isoform 8. 1 Publication3
Alternative sequenceiVSP_052230316 – 838Missing in isoform 8. 1 PublicationAdd BLAST523
Alternative sequenceiVSP_052231345 – 442Missing in isoform 5. 1 PublicationAdd BLAST98
Alternative sequenceiVSP_052232345H → L in isoform 7. 1 Publication1
Alternative sequenceiVSP_052233346 – 838Missing in isoform 7. 1 PublicationAdd BLAST493
Alternative sequenceiVSP_052234783 – 838Missing in isoform 4. 1 PublicationAdd BLAST56

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
AF155827 mRNA Translation: AAF82262.1
AB102717 mRNA Translation: BAD10845.1
AB102718 mRNA Translation: BAD10846.1
AB102719 mRNA Translation: BAD10847.1
AB102720 mRNA Translation: BAD10848.1
AB102721 mRNA Translation: BAD10849.1
AB102722 mRNA Translation: BAD10850.1
AK314485 mRNA Translation: BAG37088.1
AB113249 mRNA Translation: BAD24805.1
BX538033 mRNA Translation: CAD97978.1
AL138759 Genomic DNA No translation available.
CH471066 Genomic DNA Translation: EAW50035.1
BC015477 mRNA Translation: AAH15477.1
BC029381 mRNA Translation: AAH29381.1 Different initiation.
BC030963 mRNA Translation: AAH30963.1 Different initiation.
BC031004 mRNA Translation: AAH31004.1 Different initiation.
AY007108 mRNA Translation: AAG01987.1 Different initiation.
AB074174 mRNA Translation: BAE45737.1

The Consensus CDS (CCDS) project

More...CCDSi		CCDS73163.1 [Q9NRZ9-5]
CCDS7434.1 [Q9NRZ9-1]

NCBI Reference Sequences

More...RefSeqi		NP_001275996.1, NM_001289067.1
NP_001275997.1, NM_001289068.1 [Q9NRZ9-2]
NP_001275998.1, NM_001289069.1 [Q9NRZ9-3]
NP_001275999.1, NM_001289070.1 [Q9NRZ9-5]
NP_001276000.1, NM_001289071.1
NP_001276001.1, NM_001289072.1 [Q9NRZ9-6]
NP_001276002.1, NM_001289073.1
NP_001276003.1, NM_001289074.1
NP_001276004.1, NM_001289075.1
NP_060533.2, NM_018063.4 [Q9NRZ9-1]

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...Ensembli		ENST00000348459; ENSP00000239027; ENSG00000119969 [Q9NRZ9-1]
ENST00000394045; ENSP00000377609; ENSG00000119969 [Q9NRZ9-5]

Database of genes from NCBI RefSeq genomes

More...GeneIDi		3070

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...KEGGi		hsa:3070

UCSC genome browser

More...UCSCi		uc001kjt.5 human [Q9NRZ9-1]

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
AF155827 mRNA Translation: AAF82262.1
AB102717 mRNA Translation: BAD10845.1
AB102718 mRNA Translation: BAD10846.1
AB102719 mRNA Translation: BAD10847.1
AB102720 mRNA Translation: BAD10848.1
AB102721 mRNA Translation: BAD10849.1
AB102722 mRNA Translation: BAD10850.1
AK314485 mRNA Translation: BAG37088.1
AB113249 mRNA Translation: BAD24805.1
BX538033 mRNA Translation: CAD97978.1
AL138759 Genomic DNA No translation available.
CH471066 Genomic DNA Translation: EAW50035.1
BC015477 mRNA Translation: AAH15477.1
BC029381 mRNA Translation: AAH29381.1 Different initiation.
BC030963 mRNA Translation: AAH30963.1 Different initiation.
BC031004 mRNA Translation: AAH31004.1 Different initiation.
AY007108 mRNA Translation: AAG01987.1 Different initiation.
AB074174 mRNA Translation: BAE45737.1
CCDSiCCDS73163.1 [Q9NRZ9-5]
CCDS7434.1 [Q9NRZ9-1]
RefSeqiNP_001275996.1, NM_001289067.1
NP_001275997.1, NM_001289068.1 [Q9NRZ9-2]
NP_001275998.1, NM_001289069.1 [Q9NRZ9-3]
NP_001275999.1, NM_001289070.1 [Q9NRZ9-5]
NP_001276000.1, NM_001289071.1
NP_001276001.1, NM_001289072.1 [Q9NRZ9-6]
NP_001276002.1, NM_001289073.1
NP_001276003.1, NM_001289074.1
NP_001276004.1, NM_001289075.1
NP_060533.2, NM_018063.4 [Q9NRZ9-1]

3D structure databases

SMRiQ9NRZ9
ModBaseiSearch...

Protein-protein interaction databases

BioGridi109320, 64 interactors
IntActiQ9NRZ9, 40 interactors
MINTiQ9NRZ9
STRINGi9606.ENSP00000377601

PTM databases

iPTMnetiQ9NRZ9
PhosphoSitePlusiQ9NRZ9

Polymorphism and mutation databases

BioMutaiHELLS
DMDMi74761670

Proteomic databases

EPDiQ9NRZ9
jPOSTiQ9NRZ9
MassIVEiQ9NRZ9
MaxQBiQ9NRZ9
PaxDbiQ9NRZ9
PeptideAtlasiQ9NRZ9
PRIDEiQ9NRZ9
ProteomicsDBi82450 [Q9NRZ9-1]
82451 [Q9NRZ9-2]
82452 [Q9NRZ9-3]
82453 [Q9NRZ9-4]
82454 [Q9NRZ9-5]
82455 [Q9NRZ9-6]
82456 [Q9NRZ9-7]
82457 [Q9NRZ9-8]
82458 [Q9NRZ9-9]

Protocols and materials databases

The DNASU plasmid repository

More...DNASUi		3070

Genome annotation databases

EnsembliENST00000348459; ENSP00000239027; ENSG00000119969 [Q9NRZ9-1]
ENST00000394045; ENSP00000377609; ENSG00000119969 [Q9NRZ9-5]
GeneIDi3070
KEGGihsa:3070
UCSCiuc001kjt.5 human [Q9NRZ9-1]

Organism-specific databases

Comparative Toxicogenomics Database

More...CTDi		3070
DisGeNETi3070

GeneCards: human genes, protein and diseases

More...GeneCardsi		HELLS
HGNCiHGNC:4861 HELLS
HPAiCAB004491
HPA063242
MalaCardsiHELLS
MIMi603946 gene
616911 phenotype
neXtProtiNX_Q9NRZ9
OpenTargetsiENSG00000119969
Orphaneti2268 ICF syndrome
PharmGKBiPA35054

GenAtlas: human gene database

More...GenAtlasi		Search...

Phylogenomic databases

eggNOGiKOG0386 Eukaryota
COG0553 LUCA
GeneTreeiENSGT00740000115593
InParanoidiQ9NRZ9
KOiK19001
OrthoDBi61251at2759
PhylomeDBiQ9NRZ9
TreeFamiTF329077

Miscellaneous databases

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

More...ChiTaRSi		HELLS human

The Gene Wiki collection of pages on human genes and proteins

More...GeneWikii		HELLS

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

More...GenomeRNAii		3070
PharosiQ9NRZ9

Protein Ontology

More...PROi		PR:Q9NRZ9

The Stanford Online Universal Resource for Clones and ESTs

More...SOURCEi		Search...

Gene expression databases

BgeeiENSG00000119969 Expressed in 159 organ(s), highest expression level in kidney
ExpressionAtlasiQ9NRZ9 baseline and differential
GenevisibleiQ9NRZ9 HS

Family and domain databases

Gene3Di3.40.50.10810, 1 hit
InterProiView protein in InterPro
IPR014001 Helicase_ATP-bd
IPR001650 Helicase_C
IPR027417 P-loop_NTPase
IPR038718 SNF2-like_sf
IPR000330 SNF2_N
PfamiView protein in Pfam
PF00271 Helicase_C, 1 hit
PF00176 SNF2_N, 1 hit
SMARTiView protein in SMART
SM00487 DEXDc, 1 hit
SM00490 HELICc, 1 hit
SUPFAMiSSF52540 SSF52540, 2 hits
PROSITEiView protein in PROSITE
PS51192 HELICASE_ATP_BIND_1, 1 hit
PS51194 HELICASE_CTER, 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 nameiHELLS_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: Q9NRZ9
Secondary accession number(s): B2RB41
, Q3LID1, Q6I7N7, Q76H76, Q76H77, Q76H78, Q76H79, Q76H80, Q76H81, Q7Z397, Q7Z5X2, Q8N6P4, Q9H4P5
<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: November 28, 2006
Last sequence update: October 1, 2000
Last modified: September 18, 2019
This is version 150 of the entry and version 1 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 polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  3. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  4. Human chromosome 10
    Human chromosome 10: entries, gene names and cross-references to MIM
  5. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
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