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Entry version 119 (11 Dec 2019)
Sequence version 2 (10 Jun 2008)
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Protein

DNA helicase B

Gene

HELB

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

5'-3' DNA helicase involved in DNA damage response by acting as an inhibitor of DNA end resection (PubMed:25617833, PubMed:26774285). Recruitment to single-stranded DNA (ssDNA) following DNA damage leads to inhibit the nucleases catalyzing resection, such as EXO1, BLM and DNA2, possibly via the 5'-3' ssDNA translocase activity of HELB (PubMed:26774285). As cells approach S phase, DNA end resection is promoted by the nuclear export of HELB following phosphorylation (PubMed:26774285). Acts independently of TP53BP1 (PubMed:26774285). Unwinds duplex DNA with 5'-3' polarity. Has single-strand DNA-dependent ATPase and DNA helicase activities. Prefers ATP and dATP as substrates (PubMed:12181327). During S phase, may facilitate cellular recovery from replication stress (PubMed:22194613).4 Publications

<p>This subsection of the <a href="http://www.uniprot.org/help/function_section">Function</a> section describes the catalytic activity of an enzyme, i.e. a chemical reaction that the enzyme catalyzes.<p><a href='/help/catalytic_activity' target='_top'>More...</a></p>Catalytic activityi

<p>This subsection of the <a href="http://www.uniprot.org/help/function_section">Function</a> section describes regulatory mechanisms for enzymes, transporters or microbial transcription factors, and reports the components which regulate (by activation or inhibition) the reaction.<p><a href='/help/activity_regulation' target='_top'>More...</a></p>Activity regulationi

Inhibited by salt concentration greater than 100 mM. Uses either magnesium or manganese ions to support helicase activity. Binds strongly to single-stranded DNA in the absence of ATP but dissociates readily in the presence of 1 mM ATP.1 Publication

<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
Biological processDNA damage, DNA repair
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:
DNA helicase BCurated (EC:3.6.4.121 Publication1 Publication)
Short name:
hDHB2 Publications
<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:HELBImported
<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 12

Organism-specific databases

Eukaryotic Pathogen Database Resources

More...
EuPathDBi
HostDB:ENSG00000127311.9

Human Gene Nomenclature Database

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HGNCi
HGNC:17196 HELB

Online Mendelian Inheritance in Man (OMIM)

More...
MIMi
614539 gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_Q8NG08

<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

Chromosome, Cytoplasm, 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

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/manual/pathology_and_biotech_section">'Pathology and Biotech'</a> section describes the effect of the experimental mutation of one or more amino acid(s) on the biological properties of the protein.<p><a href='/help/mutagen' target='_top'>More...</a></p>Mutagenesisi481K → A: No ATPase activity. 3 Publications1
Mutagenesisi499E → A: Loss of RPA1-binding, leading to impaired recruitment to sites of double-strand breaks; when associated with A-506 and A-510. 2 Publications1
Mutagenesisi506D → A: Loss of RPA1-binding, leading to impaired recruitment to sites of double-strand breaks; when associated with A-499 and A-510. 2 Publications1
Mutagenesisi510D → A: Loss of RPA1-binding, leading to impaired recruitment to sites of double-strand breaks; when associated with A-499 and A-506. 2 Publications1
Mutagenesisi591E → Q: No ATPase activity. 3 Publications1
Mutagenesisi967S → A: Impaired phosphorylation, inducing accumulation in the nucleus. 1 Publication1
Mutagenesisi967S → D: Phosphomimetic mutant; leads to higher localization to the cytoplasm. 1 Publication1
Mutagenesisi984S → A: Does not affect subcellular location. 1 Publication1
Mutagenesisi1005S → A: Does not affect subcellular location. 1 Publication1
Mutagenesisi1021S → A: Does not affect subcellular location. 1 Publication1
Mutagenesisi1061 – 1065VSSRL → ASSRA: Accumulation in the nucleus due to defects in nuclear export. 1 Publication5
Mutagenesisi1068 – 1070LRL → ARA: Accumulation in the nucleus due to defects in nuclear export. 1 Publication3

Organism-specific databases

DisGeNET

More...
DisGeNETi
92797

Open Targets

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OpenTargetsi
ENSG00000127311

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...
PharmGKBi
PA134987279

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...
Pharosi
Q8NG08 Tbio

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
HELB

Domain mapping of disease mutations (DMDM)

More...
DMDMi
190359604

<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_00003389921 – 1087DNA helicase BAdd BLAST1087

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 residuei967Phosphoserine; by CDK2Combined sources1 Publication1
Modified residuei971PhosphoserineBy similarity1
Modified residuei1027PhosphothreonineCombined sources1
Modified residuei1048PhosphoserineBy similarity1
Modified residuei1058PhosphoserineCombined sources1

<p>This subsection of the <a href="http://www.uniprot.org/help/ptm_processing_section">PTM/processing</a> section describes post-translational modifications (PTMs). This subsection <strong>complements</strong> the information provided at the sequence level or describes modifications for which <strong>position-specific data is not yet available</strong>.<p><a href='/help/post-translational_modification' target='_top'>More...</a></p>Post-translational modificationi

Phosphorylated at Ser-967 by CDK2 during the G1/S transition, resulting in its nuclear export into the cytoplasm (PubMed:15146062, PubMed:26774285). As S phase progresses, its exclusion from the nucleus promotes the activation of long-range resection (PubMed:26774285).2 Publications

Keywords - PTMi

Phosphoprotein

Proteomic databases

Encyclopedia of Proteome Dynamics

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EPDi
Q8NG08

jPOST - Japan Proteome Standard Repository/Database

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jPOSTi
Q8NG08

MassIVE - Mass Spectrometry Interactive Virtual Environment

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MassIVEi
Q8NG08

MaxQB - The MaxQuant DataBase

More...
MaxQBi
Q8NG08

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

More...
PaxDbi
Q8NG08

PeptideAtlas

More...
PeptideAtlasi
Q8NG08

PRoteomics IDEntifications database

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PRIDEi
Q8NG08

ProteomicsDB: a multi-organism proteome resource

More...
ProteomicsDBi
73405 [Q8NG08-1]
73406 [Q8NG08-2]

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...
iPTMneti
Q8NG08

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

More...
PhosphoSitePlusi
Q8NG08

<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 testis and thymus and weakly in liver, spleen, kidney and brain.1 Publication

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...
Bgeei
ENSG00000127311 Expressed in 113 organ(s), highest expression level in leukocyte

ExpressionAtlas, Differential and Baseline Expression

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ExpressionAtlasi
Q8NG08 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

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Genevisiblei
Q8NG08 HS

<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

Binds to RPA1; this interaction promotes HELB recruitment to chromatin following DNA damage (PubMed:12181327, PubMed:22194613, PubMed:26774285).

Interacts with at least two subunits of the DNA polymerase alpha complex (PubMed:12181327):

Interacts with CDC45 (PubMed:25933514).

Interacts with TOPB1 (PubMed:25933514).

3 Publications

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

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BioGridi
124978, 11 interactors

Protein interaction database and analysis system

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IntActi
Q8NG08, 9 interactors

Molecular INTeraction database

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MINTi
Q8NG08

STRING: functional protein association networks

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STRINGi
9606.ENSP00000247815

Miscellaneous databases

RNAct, Protein-RNA interaction predictions for model organisms.

More...
RNActi
Q8NG08 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>Motifi1055 – 1078Nuclear export signal1 PublicationAdd BLAST24

<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 RecD family. HELB subfamily.Curated

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

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eggNOGi
ENOG410IK73 Eukaryota
COG0507 LUCA

Ensembl GeneTree

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GeneTreei
ENSGT00390000006913

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

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HOGENOMi
HOG000043085

InParanoid: Eukaryotic Ortholog Groups

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InParanoidi
Q8NG08

KEGG Orthology (KO)

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KOi
K15254

Identification of Orthologs from Complete Genome Data

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OMAi
GCVFLYD

Database of Orthologous Groups

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OrthoDBi
174318at2759

Database for complete collections of gene phylogenies

More...
PhylomeDBi
Q8NG08

TreeFam database of animal gene trees

More...
TreeFami
TF336223

Family and domain databases

Integrated resource of protein families, domains and functional sites

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InterProi
View protein in InterPro
IPR027044 Helb
IPR027417 P-loop_NTPase
IPR027785 UvrD-like_helicase_C

The PANTHER Classification System

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PANTHERi
PTHR18934:SF135 PTHR18934:SF135, 1 hit

Pfam protein domain database

More...
Pfami
View protein in Pfam
PF13538 UvrD_C_2, 1 hit

Superfamily database of structural and functional annotation

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SUPFAMi
SSF52540 SSF52540, 2 hits

<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 (2+)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 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.<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 1 potential isoform that is computationally mapped.Show allAlign All

Isoform 1 (identifier: Q8NG08-1) [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
MARSSPYLRQ LQGPLLPPRD LVEEDDDYLN DDVEEDEESV FIDAEELCSG
60 70 80 90 100
GVKAGSLPGC LRVSICDENT QETCKVFGRF PITGAWWRVK VQVKPVVGSR
110 120 130 140 150
SYQYQVQGFP SYFLQSDMSP PNQKHICALF LKECEVSSDD VNKFLTWVKE
160 170 180 190 200
VSNYKNLNFE NLRETLRTFH KETGRKDQKQ PTQNGQEELF LDNEMSLPLE
210 220 230 240 250
NTIPFRNVMT ALQFPKIMEF LPVLLPRHFK WIIGSGSKEM LKEIEEILGT
260 270 280 290 300
HPWKLGFSKI TYREWKLLRC EASWIAFCQC ESLLQLMTDL EKNALIMYSR
310 320 330 340 350
LKQICREDGH TYVEVNDLTL TLSNHMSFHA ASESLKFLKD IGVVTYEKSC
360 370 380 390 400
VFPYDLYHAE RAIAFSICDL MKKPPWHLCV DVEKVLASIH TTKPENSSDD
410 420 430 440 450
ALNESKPDEV RLENPVDVVD TQDNGDHIWT NGENEINAEI SEVQLDQDQV
460 470 480 490 500
EVPLDRDQVA ALEMICSNPV TVISGKGGCG KTTIVSRLFK HIEQLEEREV
510 520 530 540 550
KKACEDFEQD QNASEEWITF TEQSQLEADK AIEVLLTAPT GKAAGLLRQK
560 570 580 590 600
TGLHAYTLCQ VNYSFYSWTQ TMMTTNKPWK FSSVRVLVVD EGSLVSVGIF
610 620 630 640 650
KSVLNLLCEH SKLSKLIILG DIRQLPSIEP GNLLKDLFET LKSRNCAIEL
660 670 680 690 700
KTNHRAESQL IVDNATRISR RQFPKFDAEL NISDNPTLPI SIQDKTFIFV
710 720 730 740 750
RLPEEDASSQ SSKTNHHSCL YSAVKTLLQE NNLQNAKTSQ FIAFRRQDCD
760 770 780 790 800
LINDCCCKHY TGHLTKDHQS RLVFGIGDKI CCTRNAYLSD LLPENISGSQ
810 820 830 840 850
QNNDLDASSE DFSGTLPDFA KNKRDFESNV RLCNGEIFFI TNDVTDVTFG
860 870 880 890 900
KRRSLTINNM AGLEVTVDFK KLMKYCRIKH AWARTIHTFQ GSEEQTVVYV
910 920 930 940 950
VGKAGRQHWQ HVYTAVTRGR CRVYVIAEES QLRNAIMKNS FPRKTRLKHF
960 970 980 990 1000
LQSKLSSSGA PPADFPSPRK SSGDSGGPST PSASPLPVVT DHAMTNDVTW
1010 1020 1030 1040 1050
SEASSPDERT LTFAERWQLS SPDGVDTDDD LPKSRASKRT CGVNDDESPS
1060 1070 1080
KIFMVGESPQ VSSRLQNLRL NNLIPRQLFK PTDNQET
Length:1,087
Mass (Da):123,252
Last modified:June 10, 2008 - 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:i05220F3186CE722B
GO
Isoform 2 (identifier: Q8NG08-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     562-574: NYSFYSWTQTMMT → TLDSYPVLNLVTC
     575-1087: Missing.

Show »
Length:574
Mass (Da):65,443
Checksum:i5628E8F75508B446
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 is 1 potential isoform mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
F5H1I4F5H1I4_HUMAN
DNA helicase B
HELB
846Annotation 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 BAB15754 differs from that shown. Reason: Erroneous initiation. Extended N-terminus.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 conflicti366S → P in BAF83583 (PubMed:14702039).Curated1
Sequence conflicti849F → S in BAF83583 (PubMed:14702039).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_043855172E → K. Corresponds to variant dbSNP:rs35605829Ensembl.1
Natural variantiVAR_043856191L → P1 PublicationCorresponds to variant dbSNP:rs4430553Ensembl.1
Natural variantiVAR_043857267L → F. Corresponds to variant dbSNP:rs35138454Ensembl.1
Natural variantiVAR_061665575T → A. Corresponds to variant dbSNP:rs58589183Ensembl.1
Natural variantiVAR_043858966P → L1 PublicationCorresponds to variant dbSNP:rs1185244Ensembl.1
Natural variantiVAR_043859980T → I1 PublicationCorresponds to variant dbSNP:rs1168312Ensembl.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_034086562 – 574NYSFY…QTMMT → TLDSYPVLNLVTC in isoform 2. 1 PublicationAdd BLAST13
Alternative sequenceiVSP_034087575 – 1087Missing in isoform 2. 1 PublicationAdd BLAST513

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
AF319995 mRNA Translation: AAM73554.1
AK024464 mRNA Translation: BAB15754.1 Different initiation.
AK290894 mRNA Translation: BAF83583.1

The Consensus CDS (CCDS) project

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CCDSi
CCDS8976.1 [Q8NG08-1]

NCBI Reference Sequences

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RefSeqi
NP_387467.2, NM_033647.4 [Q8NG08-1]
XP_005269291.1, XM_005269234.2

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...
Ensembli
ENST00000247815; ENSP00000247815; ENSG00000127311 [Q8NG08-1]
ENST00000440906; ENSP00000396955; ENSG00000127311 [Q8NG08-2]
ENST00000545134; ENSP00000443287; ENSG00000127311 [Q8NG08-1]

Database of genes from NCBI RefSeq genomes

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GeneIDi
92797

KEGG: Kyoto Encyclopedia of Genes and Genomes

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KEGGi
hsa:92797

UCSC genome browser

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UCSCi
uc001sti.4 human [Q8NG08-1]

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
AF319995 mRNA Translation: AAM73554.1
AK024464 mRNA Translation: BAB15754.1 Different initiation.
AK290894 mRNA Translation: BAF83583.1
CCDSiCCDS8976.1 [Q8NG08-1]
RefSeqiNP_387467.2, NM_033647.4 [Q8NG08-1]
XP_005269291.1, XM_005269234.2

3D structure databases

Database of comparative protein structure models

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ModBasei
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SWISS-MODEL Interactive Workspace

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

Protein-protein interaction databases

BioGridi124978, 11 interactors
IntActiQ8NG08, 9 interactors
MINTiQ8NG08
STRINGi9606.ENSP00000247815

PTM databases

iPTMnetiQ8NG08
PhosphoSitePlusiQ8NG08

Polymorphism and mutation databases

BioMutaiHELB
DMDMi190359604

Proteomic databases

EPDiQ8NG08
jPOSTiQ8NG08
MassIVEiQ8NG08
MaxQBiQ8NG08
PaxDbiQ8NG08
PeptideAtlasiQ8NG08
PRIDEiQ8NG08
ProteomicsDBi73405 [Q8NG08-1]
73406 [Q8NG08-2]

Protocols and materials databases

The DNASU plasmid repository

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DNASUi
92797

Genome annotation databases

EnsembliENST00000247815; ENSP00000247815; ENSG00000127311 [Q8NG08-1]
ENST00000440906; ENSP00000396955; ENSG00000127311 [Q8NG08-2]
ENST00000545134; ENSP00000443287; ENSG00000127311 [Q8NG08-1]
GeneIDi92797
KEGGihsa:92797
UCSCiuc001sti.4 human [Q8NG08-1]

Organism-specific databases

Comparative Toxicogenomics Database

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CTDi
92797
DisGeNETi92797
EuPathDBiHostDB:ENSG00000127311.9

GeneCards: human genes, protein and diseases

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GeneCardsi
HELB
HGNCiHGNC:17196 HELB
MIMi614539 gene
neXtProtiNX_Q8NG08
OpenTargetsiENSG00000127311
PharmGKBiPA134987279

GenAtlas: human gene database

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GenAtlasi
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Phylogenomic databases

eggNOGiENOG410IK73 Eukaryota
COG0507 LUCA
GeneTreeiENSGT00390000006913
HOGENOMiHOG000043085
InParanoidiQ8NG08
KOiK15254
OMAiGCVFLYD
OrthoDBi174318at2759
PhylomeDBiQ8NG08
TreeFamiTF336223

Miscellaneous databases

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

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ChiTaRSi
HELB human

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

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GenomeRNAii
92797
PharosiQ8NG08 Tbio

Protein Ontology

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PROi
PR:Q8NG08
RNActiQ8NG08 protein

The Stanford Online Universal Resource for Clones and ESTs

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SOURCEi
Search...

Gene expression databases

BgeeiENSG00000127311 Expressed in 113 organ(s), highest expression level in leukocyte
ExpressionAtlasiQ8NG08 baseline and differential
GenevisibleiQ8NG08 HS

Family and domain databases

InterProiView protein in InterPro
IPR027044 Helb
IPR027417 P-loop_NTPase
IPR027785 UvrD-like_helicase_C
PANTHERiPTHR18934:SF135 PTHR18934:SF135, 1 hit
PfamiView protein in Pfam
PF13538 UvrD_C_2, 1 hit
SUPFAMiSSF52540 SSF52540, 2 hits

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 nameiHELB_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: Q8NG08
Secondary accession number(s): A8K4C9, Q4G0T2, Q9H7L5
<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: June 10, 2008
Last sequence update: June 10, 2008
Last modified: December 11, 2019
This is version 119 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. SIMILARITY comments
    Index of protein domains and families
  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. Human chromosome 12
    Human chromosome 12: entries, gene names and cross-references to MIM
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