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Entry version 153 (16 Oct 2019)
Sequence version 1 (05 Jul 2004)
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Protein

ATP-dependent RNA helicase DHX30

Gene

DHX30

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

RNA-dependent helicase (PubMed:29100085). Plays an important role in the assembly of the mitochondrial large ribosomal subunit (PubMed:25683715, PubMed:29100085). Required for optimal function of the zinc-finger antiviral protein ZC3HAV1 (By similarity). Associates with mitochondrial DNA (PubMed:18063578). Involved in nervous system development and differentiation through its involvement in the up-regulation of a number of genes which are required for neurogenesis, including GSC, NCAM1, neurogenin, and NEUROD (By similarity).By similarity3 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

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 bindingi457 – 464ATPPROSITE-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

GO - Biological processi

  • central nervous system development Source: UniProtKB
  • mitochondrial large ribosomal subunit assembly Source: UniProtKB

<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, RNA-binding
Biological processRibosome biogenesis
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:
ATP-dependent RNA helicase DHX30Curated (EC:3.6.4.131 Publication)
Alternative name(s):
DEAH box protein 30
<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:DHX30
Synonyms:DDX30, KIAA0890
<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 3

Organism-specific databases

Human Gene Nomenclature Database

More...
HGNCi
HGNC:16716 DHX30

Online Mendelian Inheritance in Man (OMIM)

More...
MIMi
616423 gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_Q7L2E3

<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

Cytoplasm, Mitochondrion, Mitochondrion nucleoid

<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

Neurodevelopmental disorder with severe motor impairment and absent language (NEDMIAL)2 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionAn autosomal dominant neurodevelopmental disorder characterized by global developmental delay, intellectual disability, severe speech impairment and gait abnormalities.
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_080611493R → H in NEDMIAL; changed localization to stress granules; decreased RNA-binding; no effect on RNA-dependent ATPase activity; by inducing the formation of stress granules probably indirectly decreases global protein synthesis. 2 PublicationsCorresponds to variant dbSNP:rs1057519436EnsemblClinVar.1
Natural variantiVAR_080612562H → R in NEDMIAL; changed localization to stress granules; decreased RNA-dependent ATPase activity; by inducing the formation of stress granules probably indirectly decreases global protein synthesis. 2 PublicationsCorresponds to variant dbSNP:rs1060499733EnsemblClinVar.1
Natural variantiVAR_080613781G → D in NEDMIAL; changed localization to stress granules; decreased RNA-dependent ATPase activity; by inducing the formation of stress granules probably indirectly decreases global protein synthesis. 1 PublicationCorresponds to variant dbSNP:rs1553706775EnsemblClinVar.1
Natural variantiVAR_080614782R → W in NEDMIAL; changed localization to stress granules; decreased RNA-dependent ATPase activity; by inducing the formation of stress granules probably indirectly decreases global protein synthesis. 2 PublicationsCorresponds to variant dbSNP:rs753242774EnsemblClinVar.1
Natural variantiVAR_080615785R → C in NEDMIAL; changed localization to stress granules; decreased RNA-dependent ATPase activity; by inducing the formation of stress granules probably indirectly decreases global protein synthesis. 1 PublicationCorresponds to variant dbSNP:rs1085307451EnsemblClinVar.1
Natural variantiVAR_080616785R → H in NEDMIAL; changed localization to stress granules; decreased RNA-dependent ATPase activity; by inducing the formation of stress granules probably indirectly decreases global protein synthesis. 1 PublicationCorresponds to variant dbSNP:rs1553706799EnsemblClinVar.1

Keywords - Diseasei

Disease mutation, Mental retardation

Organism-specific databases

DisGeNET

More...
DisGeNETi
22907

MalaCards human disease database

More...
MalaCardsi
DHX30
MIMi617804 phenotype

Open Targets

More...
OpenTargetsi
ENSG00000132153

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...
PharmGKBi
PA27217

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...
Pharosi
Q7L2E3

Chemistry databases

ChEMBL database of bioactive drug-like small molecules

More...
ChEMBLi
CHEMBL4105814

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
DHX30

Domain mapping of disease mutations (DMDM)

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DMDMi
74758997

<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_00002455381 – 1194ATP-dependent RNA helicase DHX30Add BLAST1194

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 residuei6PhosphoserineCombined sources1
Modified residuei226PhosphoserineBy similarity1
Modified residuei380PhosphoserineCombined sources1
Isoform 2 (identifier: Q7L2E3-2)
Modified residuei15PhosphoserineCombined 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

Isoform 2: Phosphorylated on Ser-15.Combined sources

Keywords - PTMi

Phosphoprotein

Proteomic databases

Encyclopedia of Proteome Dynamics

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EPDi
Q7L2E3

jPOST - Japan Proteome Standard Repository/Database

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jPOSTi
Q7L2E3

MassIVE - Mass Spectrometry Interactive Virtual Environment

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MassIVEi
Q7L2E3

MaxQB - The MaxQuant DataBase

More...
MaxQBi
Q7L2E3

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

More...
PaxDbi
Q7L2E3

PeptideAtlas

More...
PeptideAtlasi
Q7L2E3

PRoteomics IDEntifications database

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PRIDEi
Q7L2E3

ProteomicsDB: a multi-organism proteome resource

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ProteomicsDBi
68758 [Q7L2E3-1]
68759 [Q7L2E3-2]
68760 [Q7L2E3-3]

PTM databases

CarbonylDB database of protein carbonylation sites

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CarbonylDBi
Q7L2E3

iPTMnet integrated resource for PTMs in systems biology context

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iPTMneti
Q7L2E3

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

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PhosphoSitePlusi
Q7L2E3

SwissPalm database of S-palmitoylation events

More...
SwissPalmi
Q7L2E3

<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

Gene expression databases

Bgee dataBase for Gene Expression Evolution

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Bgeei
ENSG00000132153 Expressed in 197 organ(s), highest expression level in testis

ExpressionAtlas, Differential and Baseline Expression

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ExpressionAtlasi
Q7L2E3 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

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Genevisiblei
Q7L2E3 HS

Organism-specific databases

Human Protein Atlas

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HPAi
HPA034806

<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

Identified in a complex with TFAM and SSBP1.

Interacts with AGO1 and AGO2.

Interacts (via N-terminus) with ZC3HAV1 (via N-terminal domain) in an RNA-independent manner (By similarity).

Found in a complex with GRSF1, DDX28, FASTKD2 and FASTKD5 (PubMed:25683715).

By similarity3 Publications

<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

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

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BioGridi
116571, 136 interactors

CORUM comprehensive resource of mammalian protein complexes

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CORUMi
Q7L2E3

Protein interaction database and analysis system

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IntActi
Q7L2E3, 99 interactors

Molecular INTeraction database

More...
MINTi
Q7L2E3

STRING: functional protein association networks

More...
STRINGi
9606.ENSP00000405620

<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

Secondary structure

11194
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details

3D structure databases

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

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SMRi
Q7L2E3

Database of comparative protein structure models

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ModBasei
Search...

Protein Data Bank in Europe - Knowledge Base

More...
PDBe-KBi
Search...

Miscellaneous databases

Relative evolutionary importance of amino acids within a protein sequence

More...
EvolutionaryTracei
Q7L2E3

<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>Domaini53 – 121DRBMAdd BLAST69
Domaini444 – 612Helicase ATP-bindingPROSITE-ProRule annotationAdd BLAST169
Domaini654 – 827Helicase C-terminalPROSITE-ProRule annotationAdd BLAST174

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>Motifi559 – 562DEAH box4

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Family and Domains’ section describes the position of regions of compositional bias within the protein and the particular amino acids that are over-represented within those regions.<p><a href='/help/compbias' target='_top'>More...</a></p>Compositional biasi188 – 199Poly-GluAdd BLAST12

<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

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...
eggNOGi
KOG0920 Eukaryota
COG1643 LUCA

Ensembl GeneTree

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GeneTreei
ENSGT00940000158279

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

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HOGENOMi
HOG000112212

InParanoid: Eukaryotic Ortholog Groups

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InParanoidi
Q7L2E3

KEGG Orthology (KO)

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KOi
K13185

Identification of Orthologs from Complete Genome Data

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OMAi
FIRDSSA

Database of Orthologous Groups

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OrthoDBi
278674at2759

Database for complete collections of gene phylogenies

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PhylomeDBi
Q7L2E3

TreeFam database of animal gene trees

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TreeFami
TF352030

Family and domain databases

Integrated resource of protein families, domains and functional sites

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InterProi
View protein in InterPro
IPR011545 DEAD/DEAH_box_helicase_dom
IPR002464 DNA/RNA_helicase_DEAH_CS
IPR011709 DUF1605
IPR007502 Helicase-assoc_dom
IPR014001 Helicase_ATP-bd
IPR001650 Helicase_C
IPR027417 P-loop_NTPase

Pfam protein domain database

More...
Pfami
View protein in Pfam
PF00270 DEAD, 1 hit
PF04408 HA2, 1 hit
PF00271 Helicase_C, 1 hit
PF07717 OB_NTP_bind, 1 hit

Simple Modular Architecture Research Tool; a protein domain database

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SMARTi
View protein in SMART
SM00487 DEXDc, 1 hit
SM00847 HA2, 1 hit
SM00490 HELICc, 1 hit

Superfamily database of structural and functional annotation

More...
SUPFAMi
SSF52540 SSF52540, 1 hit

PROSITE; a protein domain and family database

More...
PROSITEi
View protein in PROSITE
PS00690 DEAH_ATP_HELICASE, 1 hit
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 (3+)i

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

This entry describes 3 <p>This subsection of the ‘Sequence’ section lists the alternative protein sequences (isoforms) that can be generated from the same gene by a single or by the combination of up to four biological events (alternative promoter usage, alternative splicing, alternative initiation and ribosomal frameshifting). Additionally, this section gives relevant information on each alternative protein isoform.<p><a href='/help/alternative_products' target='_top'>More...</a></p> isoformsi produced by alternative splicing. AlignAdd to basket
Note: Additional isoforms seem to exist.

This entry has 3 described isoforms and 2 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: Q7L2E3-1) [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
MFSLDSFRKD RAQHRQRQCK LPPPRLPPMC VNPTPGGTIS RASRDLLKEF
60 70 80 90 100
PQPKNLLNSV IGRALGISHA KDKLVYVHTN GPKKKKVTLH IKWPKSVEVE
110 120 130 140 150
GYGSKKIDAE RQAAAAACQL FKGWGLLGPR NELFDAAKYR VLADRFGSPA
160 170 180 190 200
DSWWRPEPTM PPTSWRQLNP ESIRPGGPGG LSRSLGREEE EDEEEELEEG
210 220 230 240 250
TIDVTDFLSM TQQDSHAPLR DSRGSSFEMT DDDSAIRALT QFPLPKNLLA
260 270 280 290 300
KVIQIATSSS TAKNLMQFHT VGTKTKLSTL TLLWPCPMTF VAKGRRKAEA
310 320 330 340 350
ENKAAALACK KLKSLGLVDR NNEPLTHAMY NLASLRELGE TQRRPCTIQV
360 370 380 390 400
PEPILRKIET FLNHYPVESS WIAPELRLQS DDILPLGKDS GPLSDPITGK
410 420 430 440 450
PYVPLLEAEE VRLSQSLLEL WRRRGPVWQE APQLPVDPHR DTILNAIEQH
460 470 480 490 500
PVVVISGDTG CGKTTRIPQL LLERYVTEGR GARCNVIITQ PRRISAVSVA
510 520 530 540 550
QRVSHELGPS LRRNVGFQVR LESKPPSRGG ALLFCTVGIL LRKLQSNPSL
560 570 580 590 600
EGVSHVIVDE VHERDVNTDF LLILLKGLQR LNPALRLVLM SATGDNERFS
610 620 630 640 650
RYFGGCPVIK VPGFMYPVKE HYLEDILAKL GKHQYLHRHR HHESEDECAL
660 670 680 690 700
DLDLVTDLVL HIDARGEPGG ILCFLPGWQE IKGVQQRLQE ALGMHESKYL
710 720 730 740 750
ILPVHSNIPM MDQKAIFQQP PVGVRKIVLA TNIAETSITI NDIVHVVDSG
760 770 780 790 800
LHKEERYDLK TKVSCLETVW VSRANVIQRR GRAGRCQSGF AYHLFPRSRL
810 820 830 840 850
EKMVPFQVPE ILRTPLENLV LQAKIHMPEK TAVEFLSKAV DSPNIKAVDE
860 870 880 890 900
AVILLQEIGV LDQREYLTTL GQRLAHISTD PRLAKAIVLA AIFRCLHPLL
910 920 930 940 950
VVVSCLTRDP FSSSLQNRAE VDKVKALLSH DSGSDHLAFV RAVAGWEEVL
960 970 980 990 1000
RWQDRSSREN YLEENLLYAP SLRFIHGLIK QFSENIYEAF LVGKPSDCTL
1010 1020 1030 1040 1050
ASAQCNEYSE EEELVKGVLM AGLYPNLIQV RQGKVTRQGK FKPNSVTYRT
1060 1070 1080 1090 1100
KSGNILLHKS TINREATRLR SRWLTYFMAV KSNGSVFVRD SSQVHPLAVL
1110 1120 1130 1140 1150
LLTDGDVHIR DDGRRATISL SDSDLLRLEG DSRTVRLLKE LRRALGRMVE
1160 1170 1180 1190
RSLRSELAAL PPSVQEEHGQ LLALLAELLR GPCGSFDVRK TADD
Length:1,194
Mass (Da):133,938
Last modified:July 5, 2004 - 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:i33D9A08799FE7A02
GO
Isoform 2 (identifier: Q7L2E3-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-41: MFSLDSFRKD...NPTPGGTISR → MAAARRLMAL...PGEGDGSLVN

Show »
Length:1,222
Mass (Da):136,115
Checksum:iBEEE9D1C88DAFCA7
GO
Isoform 3 (identifier: Q7L2E3-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-39: Missing.
     40-41: SR → MA

Show »
Length:1,155
Mass (Da):129,438
Checksum:iD3417B4C609F6360
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 2 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
H7BXY3H7BXY3_HUMAN
ATP-dependent RNA helicase DHX30
DHX30
1,166Annotation 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>
F6R0H4F6R0H4_HUMAN
ATP-dependent RNA helicase DHX30
DHX30
42Annotation 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 BAA74913 differs from that shown. Reason: Erroneous initiation. Extended N-terminus.Curated
The sequence BAA92071 differs from that shown. Probable cloning artifact.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 conflicti557I → T in BAF83955 (PubMed:14702039).Curated1
Sequence conflicti1136R → W in AAH14237 (PubMed:15489334).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_080611493R → H in NEDMIAL; changed localization to stress granules; decreased RNA-binding; no effect on RNA-dependent ATPase activity; by inducing the formation of stress granules probably indirectly decreases global protein synthesis. 2 PublicationsCorresponds to variant dbSNP:rs1057519436EnsemblClinVar.1
Natural variantiVAR_080612562H → R in NEDMIAL; changed localization to stress granules; decreased RNA-dependent ATPase activity; by inducing the formation of stress granules probably indirectly decreases global protein synthesis. 2 PublicationsCorresponds to variant dbSNP:rs1060499733EnsemblClinVar.1
Natural variantiVAR_080613781G → D in NEDMIAL; changed localization to stress granules; decreased RNA-dependent ATPase activity; by inducing the formation of stress granules probably indirectly decreases global protein synthesis. 1 PublicationCorresponds to variant dbSNP:rs1553706775EnsemblClinVar.1
Natural variantiVAR_080614782R → W in NEDMIAL; changed localization to stress granules; decreased RNA-dependent ATPase activity; by inducing the formation of stress granules probably indirectly decreases global protein synthesis. 2 PublicationsCorresponds to variant dbSNP:rs753242774EnsemblClinVar.1
Natural variantiVAR_080615785R → C in NEDMIAL; changed localization to stress granules; decreased RNA-dependent ATPase activity; by inducing the formation of stress granules probably indirectly decreases global protein synthesis. 1 PublicationCorresponds to variant dbSNP:rs1085307451EnsemblClinVar.1
Natural variantiVAR_080616785R → H in NEDMIAL; changed localization to stress granules; decreased RNA-dependent ATPase activity; by inducing the formation of stress granules probably indirectly decreases global protein synthesis. 1 PublicationCorresponds to variant dbSNP:rs1553706799EnsemblClinVar.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_0221181 – 41MFSLD…GTISR → MAAARRLMALAAGISPRLQP LGPRAAGRQGRSRGFSSSCA HPDHTKEAAEAESGMAPGGP GEGDGSLVN in isoform 2. 1 PublicationAdd BLAST41
Alternative sequenceiVSP_0368911 – 39Missing in isoform 3. 2 PublicationsAdd BLAST39
Alternative sequenceiVSP_03689240 – 41SR → MA in isoform 3. 2 Publications2

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
AB020697 mRNA Translation: BAA74913.2 Different initiation.
AK002076 mRNA Translation: BAA92071.1 Sequence problems.
AK291266 mRNA Translation: BAF83955.1
BC014237 mRNA Translation: AAH14237.1
BC015029 mRNA Translation: AAH15029.1
BC020126 mRNA Translation: AAH20126.1
BC038417 mRNA Translation: AAH38417.1

The Consensus CDS (CCDS) project

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CCDSi
CCDS2759.1 [Q7L2E3-1]

Protein sequence database of the Protein Information Resource

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PIRi
E56236

NCBI Reference Sequences

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RefSeqi
NP_055781.2, NM_014966.3 [Q7L2E3-3]
NP_619520.1, NM_138615.2 [Q7L2E3-1]
XP_011531796.1, XM_011533494.2 [Q7L2E3-1]
XP_011531797.1, XM_011533495.1 [Q7L2E3-1]
XP_016861406.1, XM_017005917.1 [Q7L2E3-3]

Genome annotation databases

Ensembl eukaryotic genome annotation project

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Ensembli
ENST00000445061; ENSP00000405620; ENSG00000132153 [Q7L2E3-1]
ENST00000446256; ENSP00000392601; ENSG00000132153 [Q7L2E3-1]
ENST00000457607; ENSP00000394682; ENSG00000132153 [Q7L2E3-2]
ENST00000619982; ENSP00000483160; ENSG00000132153 [Q7L2E3-3]

Database of genes from NCBI RefSeq genomes

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GeneIDi
22907

KEGG: Kyoto Encyclopedia of Genes and Genomes

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KEGGi
hsa:22907

UCSC genome browser

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UCSCi
uc003cru.4 human [Q7L2E3-1]

Keywords - Coding sequence diversityi

Alternative splicing

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

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

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AB020697 mRNA Translation: BAA74913.2 Different initiation.
AK002076 mRNA Translation: BAA92071.1 Sequence problems.
AK291266 mRNA Translation: BAF83955.1
BC014237 mRNA Translation: AAH14237.1
BC015029 mRNA Translation: AAH15029.1
BC020126 mRNA Translation: AAH20126.1
BC038417 mRNA Translation: AAH38417.1
CCDSiCCDS2759.1 [Q7L2E3-1]
PIRiE56236
RefSeqiNP_055781.2, NM_014966.3 [Q7L2E3-3]
NP_619520.1, NM_138615.2 [Q7L2E3-1]
XP_011531796.1, XM_011533494.2 [Q7L2E3-1]
XP_011531797.1, XM_011533495.1 [Q7L2E3-1]
XP_016861406.1, XM_017005917.1 [Q7L2E3-3]

3D structure databases

Select the link destinations:

Protein Data Bank Europe

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PDBei

Protein Data Bank RCSB

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RCSB PDBi

Protein Data Bank Japan

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PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
2DB2NMR-A42-147[»]
SMRiQ7L2E3
ModBaseiSearch...
PDBe-KBiSearch...

Protein-protein interaction databases

BioGridi116571, 136 interactors
CORUMiQ7L2E3
IntActiQ7L2E3, 99 interactors
MINTiQ7L2E3
STRINGi9606.ENSP00000405620

Chemistry databases

ChEMBLiCHEMBL4105814

PTM databases

CarbonylDBiQ7L2E3
iPTMnetiQ7L2E3
PhosphoSitePlusiQ7L2E3
SwissPalmiQ7L2E3

Polymorphism and mutation databases

BioMutaiDHX30
DMDMi74758997

Proteomic databases

EPDiQ7L2E3
jPOSTiQ7L2E3
MassIVEiQ7L2E3
MaxQBiQ7L2E3
PaxDbiQ7L2E3
PeptideAtlasiQ7L2E3
PRIDEiQ7L2E3
ProteomicsDBi68758 [Q7L2E3-1]
68759 [Q7L2E3-2]
68760 [Q7L2E3-3]

Protocols and materials databases

The DNASU plasmid repository

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DNASUi
22907

Genome annotation databases

EnsembliENST00000445061; ENSP00000405620; ENSG00000132153 [Q7L2E3-1]
ENST00000446256; ENSP00000392601; ENSG00000132153 [Q7L2E3-1]
ENST00000457607; ENSP00000394682; ENSG00000132153 [Q7L2E3-2]
ENST00000619982; ENSP00000483160; ENSG00000132153 [Q7L2E3-3]
GeneIDi22907
KEGGihsa:22907
UCSCiuc003cru.4 human [Q7L2E3-1]

Organism-specific databases

Comparative Toxicogenomics Database

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CTDi
22907
DisGeNETi22907

GeneCards: human genes, protein and diseases

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GeneCardsi
DHX30
HGNCiHGNC:16716 DHX30
HPAiHPA034806
MalaCardsiDHX30
MIMi616423 gene
617804 phenotype
neXtProtiNX_Q7L2E3
OpenTargetsiENSG00000132153
PharmGKBiPA27217

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

eggNOGiKOG0920 Eukaryota
COG1643 LUCA
GeneTreeiENSGT00940000158279
HOGENOMiHOG000112212
InParanoidiQ7L2E3
KOiK13185
OMAiFIRDSSA
OrthoDBi278674at2759
PhylomeDBiQ7L2E3
TreeFamiTF352030

Miscellaneous databases

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

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ChiTaRSi
DHX30 human
EvolutionaryTraceiQ7L2E3

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

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GenomeRNAii
22907
PharosiQ7L2E3

Protein Ontology

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PROi
PR:Q7L2E3

The Stanford Online Universal Resource for Clones and ESTs

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SOURCEi
Search...

Gene expression databases

BgeeiENSG00000132153 Expressed in 197 organ(s), highest expression level in testis
ExpressionAtlasiQ7L2E3 baseline and differential
GenevisibleiQ7L2E3 HS

Family and domain databases

InterProiView protein in InterPro
IPR011545 DEAD/DEAH_box_helicase_dom
IPR002464 DNA/RNA_helicase_DEAH_CS
IPR011709 DUF1605
IPR007502 Helicase-assoc_dom
IPR014001 Helicase_ATP-bd
IPR001650 Helicase_C
IPR027417 P-loop_NTPase
PfamiView protein in Pfam
PF00270 DEAD, 1 hit
PF04408 HA2, 1 hit
PF00271 Helicase_C, 1 hit
PF07717 OB_NTP_bind, 1 hit
SMARTiView protein in SMART
SM00487 DEXDc, 1 hit
SM00847 HA2, 1 hit
SM00490 HELICc, 1 hit
SUPFAMiSSF52540 SSF52540, 1 hit
PROSITEiView protein in PROSITE
PS00690 DEAH_ATP_HELICASE, 1 hit
PS51192 HELICASE_ATP_BIND_1, 1 hit
PS51194 HELICASE_CTER, 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 nameiDHX30_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: Q7L2E3
Secondary accession number(s): A8K5F1
, O94965, Q7Z753, Q96CH4, Q9NUQ0
<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: July 11, 2006
Last sequence update: July 5, 2004
Last modified: October 16, 2019
This is version 153 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

3D-structure, Complete proteome, Reference proteome

Documents

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