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Protein

Probable ATP-dependent RNA helicase DHX40

Gene

DHX40

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 4 out of 5-Experimental evidence at protein leveli

Functioni

Probable ATP-dependent RNA helicase.By similarity

Catalytic activityi

ATP + H2O = ADP + phosphate.

Regions

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Nucleotide bindingi76 – 83ATPPROSITE-ProRule annotation8

GO - Molecular functioni

GO - Biological processi

Complete GO annotation...

Keywords - Molecular functioni

Helicase, Hydrolase

Keywords - Ligandi

ATP-binding, Nucleotide-binding

Names & Taxonomyi

Protein namesi
Recommended name:
Probable ATP-dependent RNA helicase DHX40 (EC:3.6.4.13)
Alternative name(s):
DEAH box protein 40
Protein PAD
Gene namesi
Name:DHX40
Synonyms:DDX40
ORF Names:ARG147
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 17

Organism-specific databases

HGNCiHGNC:18018. DHX40.

Subcellular locationi

GO - Cellular componenti

Complete GO annotation...

Pathology & Biotechi

Organism-specific databases

DisGeNETi79665.
OpenTargetsiENSG00000108406.
PharmGKBiPA27227.

Polymorphism and mutation databases

BioMutaiDHX40.
DMDMi116247771.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00002523951 – 779Probable ATP-dependent RNA helicase DHX40Add BLAST779

Proteomic databases

EPDiQ8IX18.
MaxQBiQ8IX18.
PaxDbiQ8IX18.
PeptideAtlasiQ8IX18.
PRIDEiQ8IX18.

PTM databases

iPTMnetiQ8IX18.
PhosphoSitePlusiQ8IX18.

Expressioni

Tissue specificityi

Ubiquitously expressed.1 Publication

Gene expression databases

BgeeiENSG00000108406.
CleanExiHS_DHX40.
ExpressionAtlasiQ8IX18. baseline and differential.
GenevisibleiQ8IX18. HS.

Organism-specific databases

HPAiHPA044350.

Interactioni

Protein-protein interaction databases

BioGridi122790. 22 interactors.
IntActiQ8IX18. 6 interactors.
STRINGi9606.ENSP00000251241.

Structurei

3D structure databases

ProteinModelPortaliQ8IX18.
SMRiQ8IX18.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini63 – 231Helicase ATP-bindingPROSITE-ProRule annotationAdd BLAST169
Domaini263 – 442Helicase C-terminalPROSITE-ProRule annotationAdd BLAST180

Motif

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Motifi173 – 176DEAH box4

Sequence similaritiesi

Contains 1 helicase ATP-binding domain.PROSITE-ProRule annotation
Contains 1 helicase C-terminal domain.PROSITE-ProRule annotation

Phylogenomic databases

eggNOGiKOG0922. Eukaryota.
COG1643. LUCA.
GeneTreeiENSGT00840000129715.
HOGENOMiHOG000175261.
HOVERGENiHBG039428.
InParanoidiQ8IX18.
KOiK18711.
OMAiVHDVIRF.
OrthoDBiEOG091G0238.
PhylomeDBiQ8IX18.
TreeFamiTF332290.

Family and domain databases

Gene3Di3.40.50.300. 2 hits.
InterProiIPR011545. 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.
[Graphical view]
PfamiPF00270. DEAD. 1 hit.
PF04408. HA2. 1 hit.
PF00271. Helicase_C. 1 hit.
PF07717. OB_NTP_bind. 1 hit.
[Graphical view]
SMARTiSM00487. DEXDc. 1 hit.
SM00847. HA2. 1 hit.
SM00490. HELICc. 1 hit.
[Graphical view]
SUPFAMiSSF52540. SSF52540. 1 hit.
PROSITEiPS00690. DEAH_ATP_HELICASE. 1 hit.
PS51192. HELICASE_ATP_BIND_1. 1 hit.
PS51194. HELICASE_CTER. 1 hit.
[Graphical view]

Sequences (4)i

Sequence statusi: Complete.

This entry describes 4 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: Q8IX18-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the 'canonical' 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
MSRFPAVAGR APRRQEEGER SRDLQEERLS AVCIADREEK GCTSQEGGTT
60 70 80 90 100
PTFPIQKQRK KIIQAVRDNS FLIVTGNTGS GKTTQLPKYL YEAGFSQHGM
110 120 130 140 150
IGVTQPRKVA AISVAQRVAE EMKCTLGSKV GYQVRFDDCS SKETAIKYMT
160 170 180 190 200
DGCLLKHILG DPNLTKFSVI ILDEAHERTL TTDILFGLLK KLFQEKSPNR
210 220 230 240 250
KEHLKVVVMS ATMELAKLSA FFGNCPIFDI PGRLYPVREK FCNLIGPRDR
260 270 280 290 300
ENTAYIQAIV KVTMDIHLNE MAGDILVFLT GQFEIEKSCE LLFQMAESVD
310 320 330 340 350
YDYDVQDTTL DGLLILPCYG SMTTDQQRRI FLPPPPGIRK CVISTNISAT
360 370 380 390 400
SLTIDGIRYV VDGGFVKQLN HNPRLGLDIL EVVPISKSEA LQRSGRAGRT
410 420 430 440 450
SSGKCFRIYS KDFWNQCMPD HVIPEIKRTS LTSVVLTLKC LAIHDVIRFP
460 470 480 490 500
YLDPPNERLI LEALKQLYQC DAIDRSGHVT RLGLSMVEFP LPPHLTCAVI
510 520 530 540 550
KAASLDCEDL LLPIAAMLSV ENVFIRPVDP EYQKEAEQRH RELAAKAGGF
560 570 580 590 600
NDFATLAVIF EQCKSSGAPA SWCQKHWIHW RCLFSAFRVE AQLRELIRKL
610 620 630 640 650
KQQSDFPKET FEGPKHEVLR RCLCAGYFKN VARRSVGRTF CTMDGRGSPV
660 670 680 690 700
HIHPSSALHE QETKLEWIIF HEVLVTTKVY ARIVCPIRYE WVRDLLPKLH
710 720 730 740 750
EFNAHDLSSV ARREVREDAR RRWTNKENVK QLKDGISKDV LKKMQRRNDD
760 770
KSISDARARF LERKQQRTQD HSDTRKETG
Length:779
Mass (Da):88,560
Last modified:October 17, 2006 - v2
Checksum:iB49A996C51986827
GO
Isoform 2 (identifier: Q8IX18-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-99: Missing.
     326-326: Q → QQRRIFLPPPPGIRKCVISTNISATSLTIDGIRYVVDGGFVKQLNHNPRLGLE

Note: No experimental confirmation available.
Show »
Length:732
Mass (Da):83,320
Checksum:i9372AC4F43466126
GO
Isoform 3 (identifier: Q8IX18-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     716-722: REDARRR → MKIYYFQ
     723-779: Missing.

Note: No experimental confirmation available.
Show »
Length:722
Mass (Da):81,797
Checksum:i889558EDAAF6E5F6
GO
Isoform 4 (identifier: Q8IX18-4) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     66-142: Missing.

Note: Gene prediction based on EST data.
Show »
Length:702
Mass (Da):80,221
Checksum:iDE23745E99819ED8
GO

Sequence cautioni

The sequence AAF70326 differs from that shown. Reason: Frameshift at position 758.Curated
The sequence AAK32122 differs from that shown. Reason: Erroneous initiation.Curated
The sequence BAB15226 differs from that shown. Reason: Erroneous initiation.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti261K → E in AAN77932 (PubMed:12522690).Curated1
Sequence conflicti449F → V in AAF70326 (Ref. 2) Curated1
Sequence conflicti643M → V in AAN77932 (PubMed:12522690).Curated1
Sequence conflicti672E → G in AAK32122 (Ref. 7) Curated1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_0209321 – 99Missing in isoform 2. 1 PublicationAdd BLAST99
Alternative sequenceiVSP_04697366 – 142Missing in isoform 4. CuratedAdd BLAST77
Alternative sequenceiVSP_020933326Q → QQRRIFLPPPPGIRKCVIST NISATSLTIDGIRYVVDGGF VKQLNHNPRLGLE in isoform 2. 1 Publication1
Alternative sequenceiVSP_020934716 – 722REDARRR → MKIYYFQ in isoform 3. 1 Publication7
Alternative sequenceiVSP_020935723 – 779Missing in isoform 3. 1 PublicationAdd BLAST57

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF461690 mRNA. Translation: AAN77932.1.
AF260270 mRNA. Translation: AAF70326.1. Frameshift.
AK025713 mRNA. Translation: BAB15226.1. Different initiation.
AK095681 mRNA. Translation: BAG53107.1.
AC004167 Genomic DNA. No translation available.
AC091271 Genomic DNA. No translation available.
BC024187 mRNA. Translation: AAH24187.1.
AL832510 mRNA. Translation: CAI46197.1.
AF319521 mRNA. Translation: AAK32122.1. Different initiation.
CCDSiCCDS11617.1. [Q8IX18-1]
CCDS54150.1. [Q8IX18-4]
RefSeqiNP_001159773.1. NM_001166301.1. [Q8IX18-4]
NP_078888.4. NM_024612.4. [Q8IX18-1]
UniGeneiHs.29403.

Genome annotation databases

EnsembliENST00000251241; ENSP00000251241; ENSG00000108406. [Q8IX18-1]
ENST00000425628; ENSP00000388749; ENSG00000108406. [Q8IX18-4]
GeneIDi79665.
KEGGihsa:79665.
UCSCiuc002ixn.3. human. [Q8IX18-1]

Keywords - Coding sequence diversityi

Alternative splicing

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF461690 mRNA. Translation: AAN77932.1.
AF260270 mRNA. Translation: AAF70326.1. Frameshift.
AK025713 mRNA. Translation: BAB15226.1. Different initiation.
AK095681 mRNA. Translation: BAG53107.1.
AC004167 Genomic DNA. No translation available.
AC091271 Genomic DNA. No translation available.
BC024187 mRNA. Translation: AAH24187.1.
AL832510 mRNA. Translation: CAI46197.1.
AF319521 mRNA. Translation: AAK32122.1. Different initiation.
CCDSiCCDS11617.1. [Q8IX18-1]
CCDS54150.1. [Q8IX18-4]
RefSeqiNP_001159773.1. NM_001166301.1. [Q8IX18-4]
NP_078888.4. NM_024612.4. [Q8IX18-1]
UniGeneiHs.29403.

3D structure databases

ProteinModelPortaliQ8IX18.
SMRiQ8IX18.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi122790. 22 interactors.
IntActiQ8IX18. 6 interactors.
STRINGi9606.ENSP00000251241.

PTM databases

iPTMnetiQ8IX18.
PhosphoSitePlusiQ8IX18.

Polymorphism and mutation databases

BioMutaiDHX40.
DMDMi116247771.

Proteomic databases

EPDiQ8IX18.
MaxQBiQ8IX18.
PaxDbiQ8IX18.
PeptideAtlasiQ8IX18.
PRIDEiQ8IX18.

Protocols and materials databases

DNASUi79665.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000251241; ENSP00000251241; ENSG00000108406. [Q8IX18-1]
ENST00000425628; ENSP00000388749; ENSG00000108406. [Q8IX18-4]
GeneIDi79665.
KEGGihsa:79665.
UCSCiuc002ixn.3. human. [Q8IX18-1]

Organism-specific databases

CTDi79665.
DisGeNETi79665.
GeneCardsiDHX40.
HGNCiHGNC:18018. DHX40.
HPAiHPA044350.
MIMi607570. gene.
neXtProtiNX_Q8IX18.
OpenTargetsiENSG00000108406.
PharmGKBiPA27227.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG0922. Eukaryota.
COG1643. LUCA.
GeneTreeiENSGT00840000129715.
HOGENOMiHOG000175261.
HOVERGENiHBG039428.
InParanoidiQ8IX18.
KOiK18711.
OMAiVHDVIRF.
OrthoDBiEOG091G0238.
PhylomeDBiQ8IX18.
TreeFamiTF332290.

Miscellaneous databases

ChiTaRSiDHX40. human.
GenomeRNAii79665.
PROiQ8IX18.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000108406.
CleanExiHS_DHX40.
ExpressionAtlasiQ8IX18. baseline and differential.
GenevisibleiQ8IX18. HS.

Family and domain databases

Gene3Di3.40.50.300. 2 hits.
InterProiIPR011545. 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.
[Graphical view]
PfamiPF00270. DEAD. 1 hit.
PF04408. HA2. 1 hit.
PF00271. Helicase_C. 1 hit.
PF07717. OB_NTP_bind. 1 hit.
[Graphical view]
SMARTiSM00487. DEXDc. 1 hit.
SM00847. HA2. 1 hit.
SM00490. HELICc. 1 hit.
[Graphical view]
SUPFAMiSSF52540. SSF52540. 1 hit.
PROSITEiPS00690. DEAH_ATP_HELICASE. 1 hit.
PS51192. HELICASE_ATP_BIND_1. 1 hit.
PS51194. HELICASE_CTER. 1 hit.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiDHX40_HUMAN
AccessioniPrimary (citable) accession number: Q8IX18
Secondary accession number(s): B3KTJ5
, C9JR60, Q5JPH4, Q8TC86, Q8WY53, Q9BXM1, Q9H6M9
Entry historyi
Integrated into UniProtKB/Swiss-Prot: October 17, 2006
Last sequence update: October 17, 2006
Last modified: November 30, 2016
This is version 127 of the entry and version 2 of the sequence. [Complete history]
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.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 17
    Human chromosome 17: entries, gene names and cross-references to MIM
  2. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  3. SIMILARITY comments
    Index of protein domains and families

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.