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Protein

ATP-dependent RNA helicase DDX39A

Gene

DDX39A

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

Functioni

Isoform 1: Involved in pre-mRNA splicing. Required for the export of mRNA out of the nucleus.2 Publications

Catalytic activityi

ATP + H2O = ADP + phosphate.

Regions

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Nucleotide bindingi88 – 95ATPPROSITE-ProRule annotation8

GO - Molecular functioni

  • ATPase activity Source: Reactome
  • ATP binding Source: UniProtKB-KW
  • helicase activity Source: UniProtKB-KW
  • identical protein binding Source: IntAct
  • RNA binding Source: UniProtKB

GO - Biological processi

  • mRNA 3'-end processing Source: Reactome
  • mRNA export from nucleus Source: UniProtKB
  • mRNA splicing, via spliceosome Source: UniProtKB
  • RNA export from nucleus Source: Reactome

Keywordsi

Molecular functionHelicase, Hydrolase, RNA-binding
Biological processmRNA processing, mRNA splicing
LigandATP-binding, Nucleotide-binding

Enzyme and pathway databases

ReactomeiR-HSA-109688 Cleavage of Growing Transcript in the Termination Region
R-HSA-159236 Transport of Mature mRNA derived from an Intron-Containing Transcript
R-HSA-72187 mRNA 3'-end processing

Names & Taxonomyi

Protein namesi
Recommended name:
ATP-dependent RNA helicase DDX39A (EC:3.6.4.13)
Alternative name(s):
DEAD box protein 39
Nuclear RNA helicase URH49
Gene namesi
Name:DDX39A
Synonyms:DDX39
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 19

Organism-specific databases

EuPathDBiHostDB:ENSG00000123136.14
HGNCiHGNC:17821 DDX39A
neXtProtiNX_O00148

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; Source: COMPARTMENTS

Keywords - Cellular componenti

Cytoplasm, Nucleus

Pathology & Biotechi

Organism-specific databases

DisGeNETi10212
OpenTargetsiENSG00000123136
PharmGKBiPA27226

Polymorphism and mutation databases

BioMutaiDDX39A

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Initiator methionineiRemovedCombined sources
ChainiPRO_00000550672 – 427ATP-dependent RNA helicase DDX39AAdd BLAST426

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei2N-acetylalanineCombined sources1
Cross-linki31Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources
Modified residuei35N6-acetyllysine; alternateCombined sources1
Cross-linki35Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2); alternateCombined sources
Modified residuei37PhosphoserineCombined sources1
Cross-linki154Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources
Cross-linki162Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources
Modified residuei171PhosphothreonineCombined sources1
Cross-linki240Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources
Cross-linki255Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources
Modified residuei426PhosphoserineCombined sources1

Keywords - PTMi

Acetylation, Isopeptide bond, Phosphoprotein, Ubl conjugation

Proteomic databases

EPDiO00148
MaxQBiO00148
PaxDbiO00148
PeptideAtlasiO00148
PRIDEiO00148
ProteomicsDBi47735

PTM databases

iPTMnetiO00148
PhosphoSitePlusiO00148
SwissPalmiO00148

Expressioni

Tissue specificityi

Detected in testis, and at lower levels in brain, kidney, lung, thymus, spleen and salivary gland.1 Publication

Inductioni

Up-regulated in proliferating cells. Present at low levels in quiescent cells.1 Publication

Gene expression databases

BgeeiENSG00000123136 Expressed in 218 organ(s), highest expression level in right testis
CleanExiHS_DDX39
ExpressionAtlasiO00148 baseline and differential
GenevisibleiO00148 HS

Organism-specific databases

HPAiHPA055334

Interactioni

Subunit structurei

Binds ALYREF/THOC4 and DDX39B/BAT1. Interacts with SARNP. Interacts with human cytomegalovirus/HHV-5 protein UL69. Interacts with MX1.5 Publications

Binary interactionsi

GO - Molecular functioni

Protein-protein interaction databases

BioGridi115507, 84 interactors
CORUMiO00148
IntActiO00148, 55 interactors
MINTiO00148
STRINGi9606.ENSP00000242776

Structurei

3D structure databases

ProteinModelPortaliO00148
SMRiO00148
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini75 – 248Helicase ATP-bindingPROSITE-ProRule annotationAdd BLAST174
Domaini260 – 421Helicase C-terminalPROSITE-ProRule annotationAdd BLAST162

Motif

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Motifi44 – 72Q motifAdd BLAST29
Motifi195 – 198DECD box4

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Compositional biasi15 – 18Poly-Glu4

Sequence similaritiesi

Phylogenomic databases

eggNOGiKOG0329 Eukaryota
COG0513 LUCA
GeneTreeiENSGT00830000128348
HOGENOMiHOG000268797
HOVERGENiHBG072062
InParanoidiO00148
KOiK13182
OMAiVCADEAP
OrthoDBiEOG091G0H5W
PhylomeDBiO00148
TreeFamiTF300442

Family and domain databases

CDDicd00079 HELICc, 1 hit
InterProiView protein in InterPro
IPR011545 DEAD/DEAH_box_helicase_dom
IPR014001 Helicase_ATP-bd
IPR001650 Helicase_C
IPR027417 P-loop_NTPase
IPR014014 RNA_helicase_DEAD_Q_motif
PfamiView protein in Pfam
PF00270 DEAD, 1 hit
PF00271 Helicase_C, 1 hit
SMARTiView protein in SMART
SM00487 DEXDc, 1 hit
SM00490 HELICc, 1 hit
SUPFAMiSSF52540 SSF52540, 1 hit
PROSITEiView protein in PROSITE
PS51192 HELICASE_ATP_BIND_1, 1 hit
PS51194 HELICASE_CTER, 1 hit
PS51195 Q_MOTIF, 1 hit

Sequences (3+)i

Sequence statusi: Complete.

Sequence processingi: The displayed sequence is further processed into a mature form.

This entry describes 3 isoformsi produced by alternative splicing. AlignAdd to basket

This entry has 3 described isoforms and 7 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: O00148-1) [UniParc]FASTAAdd to basket
Also known as: L

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
MAEQDVENDL LDYDEEEEPQ APQESTPAPP KKDIKGSYVS IHSSGFRDFL
60 70 80 90 100
LKPELLRAIV DCGFEHPSEV QHECIPQAIL GMDVLCQAKS GMGKTAVFVL
110 120 130 140 150
ATLQQIEPVN GQVTVLVMCH TRELAFQISK EYERFSKYMP SVKVSVFFGG
160 170 180 190 200
LSIKKDEEVL KKNCPHVVVG TPGRILALVR NRSFSLKNVK HFVLDECDKM
210 220 230 240 250
LEQLDMRRDV QEIFRLTPHE KQCMMFSATL SKDIRPVCRK FMQDPMEVFV
260 270 280 290 300
DDETKLTLHG LQQYYVKLKD SEKNRKLFDL LDVLEFNQVI IFVKSVQRCM
310 320 330 340 350
ALAQLLVEQN FPAIAIHRGM AQEERLSRYQ QFKDFQRRIL VATNLFGRGM
360 370 380 390 400
DIERVNIVFN YDMPEDSDTY LHRVARAGRF GTKGLAITFV SDENDAKILN
410 420
DVQDRFEVNV AELPEEIDIS TYIEQSR
Length:427
Mass (Da):49,130
Last modified:March 15, 2005 - v2
Checksum:i38D02D4234995574
GO
Isoform 2 (identifier: O00148-2) [UniParc]FASTAAdd to basket
Also known as: S

The sequence of this isoform differs from the canonical sequence as follows:
     289-322: VIIFVKSVQRCMALAQLLVEQNFPAIAIHRGMAQ → PVTLSAVQGFPAADPGGHQSVWPGDGHRASQHRL
     323-427: Missing.

Note: Probably devoid of RNA helicase activity.
Show »
Length:322
Mass (Da):36,577
Checksum:iD6E9E2A0B94B1995
GO
Isoform 3 (identifier: O00148-3) [UniParc]FASTAAdd to basket
Also known as: SS

The sequence of this isoform differs from the canonical sequence as follows:
     245-267: PMEVFVDDETKLTLHGLQQYYVK → VLWEVSHKGVAHWKVLGRRDAQR
     268-427: Missing.

Note: Probably devoid of RNA helicase activity.
Show »
Length:267
Mass (Da):30,488
Checksum:i59E8D24E3CEE81ED
GO

Computationally mapped potential isoform sequencesi

There are 7 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
K7EQN7K7EQN7_HUMAN
ATP-dependent RNA helicase DDX39A
DDX39A
255Annotation score:
K7EPJ3K7EPJ3_HUMAN
ATP-dependent RNA helicase DDX39A
DDX39A
189Annotation score:
K7EL56K7EL56_HUMAN
ATP-dependent RNA helicase DDX39A
DDX39A
108Annotation score:
K7EIL8K7EIL8_HUMAN
ATP-dependent RNA helicase DDX39A
DDX39A
125Annotation score:
K7EN69K7EN69_HUMAN
ATP-dependent RNA helicase DDX39A
DDX39A
130Annotation score:
K7ENP6K7ENP6_HUMAN
ATP-dependent RNA helicase DDX39A
DDX39A
92Annotation score:
A0A0D9SEM9A0A0D9SEM9_HUMAN
ATP-dependent RNA helicase DDX39A
DDX39A
96Annotation score:

Sequence cautioni

The sequence BAB15509 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti38Y → H in BAB15509 (PubMed:14702039).Curated1
Sequence conflicti64F → L in AAB50231 (Ref. 1) Curated1
Sequence conflicti160L → M in AAB50231 (Ref. 1) Curated1
Sequence conflicti377A → G in AAB50231 (Ref. 1) Curated1
Sequence conflicti401D → H in AAB50231 (Ref. 1) Curated1
Sequence conflicti406F → C in AAB50231 (Ref. 1) Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_052166142V → I. Corresponds to variant dbSNP:rs36127505Ensembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_057426245 – 267PMEVF…QYYVK → VLWEVSHKGVAHWKVLGRRD AQR in isoform 3. 1 PublicationAdd BLAST23
Alternative sequenceiVSP_057427268 – 427Missing in isoform 3. 1 PublicationAdd BLAST160
Alternative sequenceiVSP_046559289 – 322VIIFV…RGMAQ → PVTLSAVQGFPAADPGGHQS VWPGDGHRASQHRL in isoform 2. 1 PublicationAdd BLAST34
Alternative sequenceiVSP_046560323 – 427Missing in isoform 2. 1 PublicationAdd BLAST105

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
U90426 mRNA Translation: AAB50231.1
AB254849 mRNA Translation: BAG16272.1
AK026614 mRNA Translation: BAB15509.1 Different initiation.
AC008569 Genomic DNA No translation available.
CH471106 Genomic DNA Translation: EAW84417.1
BC001009 mRNA Translation: AAH01009.1
BC032128 mRNA Translation: AAH32128.1
CCDSiCCDS12308.1 [O00148-1]
RefSeqiNP_005795.2, NM_005804.3 [O00148-1]
XP_011525922.1, XM_011527620.1 [O00148-1]
UniGeneiHs.311609

Genome annotation databases

EnsembliENST00000242776; ENSP00000242776; ENSG00000123136 [O00148-1]
ENST00000324340; ENSP00000322749; ENSG00000123136 [O00148-2]
ENST00000454233; ENSP00000392929; ENSG00000123136 [O00148-3]
ENST00000588692; ENSP00000467862; ENSG00000123136 [O00148-3]
GeneIDi10212
KEGGihsa:10212
UCSCiuc002myo.4 human [O00148-1]
uc010dzm.2 human

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Similar proteinsi

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
U90426 mRNA Translation: AAB50231.1
AB254849 mRNA Translation: BAG16272.1
AK026614 mRNA Translation: BAB15509.1 Different initiation.
AC008569 Genomic DNA No translation available.
CH471106 Genomic DNA Translation: EAW84417.1
BC001009 mRNA Translation: AAH01009.1
BC032128 mRNA Translation: AAH32128.1
CCDSiCCDS12308.1 [O00148-1]
RefSeqiNP_005795.2, NM_005804.3 [O00148-1]
XP_011525922.1, XM_011527620.1 [O00148-1]
UniGeneiHs.311609

3D structure databases

ProteinModelPortaliO00148
SMRiO00148
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi115507, 84 interactors
CORUMiO00148
IntActiO00148, 55 interactors
MINTiO00148
STRINGi9606.ENSP00000242776

PTM databases

iPTMnetiO00148
PhosphoSitePlusiO00148
SwissPalmiO00148

Polymorphism and mutation databases

BioMutaiDDX39A

Proteomic databases

EPDiO00148
MaxQBiO00148
PaxDbiO00148
PeptideAtlasiO00148
PRIDEiO00148
ProteomicsDBi47735

Protocols and materials databases

DNASUi10212
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000242776; ENSP00000242776; ENSG00000123136 [O00148-1]
ENST00000324340; ENSP00000322749; ENSG00000123136 [O00148-2]
ENST00000454233; ENSP00000392929; ENSG00000123136 [O00148-3]
ENST00000588692; ENSP00000467862; ENSG00000123136 [O00148-3]
GeneIDi10212
KEGGihsa:10212
UCSCiuc002myo.4 human [O00148-1]
uc010dzm.2 human

Organism-specific databases

CTDi10212
DisGeNETi10212
EuPathDBiHostDB:ENSG00000123136.14
GeneCardsiDDX39A
HGNCiHGNC:17821 DDX39A
HPAiHPA055334
neXtProtiNX_O00148
OpenTargetsiENSG00000123136
PharmGKBiPA27226
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG0329 Eukaryota
COG0513 LUCA
GeneTreeiENSGT00830000128348
HOGENOMiHOG000268797
HOVERGENiHBG072062
InParanoidiO00148
KOiK13182
OMAiVCADEAP
OrthoDBiEOG091G0H5W
PhylomeDBiO00148
TreeFamiTF300442

Enzyme and pathway databases

ReactomeiR-HSA-109688 Cleavage of Growing Transcript in the Termination Region
R-HSA-159236 Transport of Mature mRNA derived from an Intron-Containing Transcript
R-HSA-72187 mRNA 3'-end processing

Miscellaneous databases

ChiTaRSiDDX39A human
GeneWikiiDDX39
GenomeRNAii10212
PROiPR:O00148

Gene expression databases

BgeeiENSG00000123136 Expressed in 218 organ(s), highest expression level in right testis
CleanExiHS_DDX39
ExpressionAtlasiO00148 baseline and differential
GenevisibleiO00148 HS

Family and domain databases

CDDicd00079 HELICc, 1 hit
InterProiView protein in InterPro
IPR011545 DEAD/DEAH_box_helicase_dom
IPR014001 Helicase_ATP-bd
IPR001650 Helicase_C
IPR027417 P-loop_NTPase
IPR014014 RNA_helicase_DEAD_Q_motif
PfamiView protein in Pfam
PF00270 DEAD, 1 hit
PF00271 Helicase_C, 1 hit
SMARTiView protein in SMART
SM00487 DEXDc, 1 hit
SM00490 HELICc, 1 hit
SUPFAMiSSF52540 SSF52540, 1 hit
PROSITEiView protein in PROSITE
PS51192 HELICASE_ATP_BIND_1, 1 hit
PS51194 HELICASE_CTER, 1 hit
PS51195 Q_MOTIF, 1 hit
ProtoNetiSearch...

Entry informationi

Entry nameiDX39A_HUMAN
AccessioniPrimary (citable) accession number: O00148
Secondary accession number(s): B1Q2N1
, Q8N5M0, Q9BVP6, Q9H5W0
Entry historyiIntegrated into UniProtKB/Swiss-Prot: March 15, 2005
Last sequence update: March 15, 2005
Last modified: November 7, 2018
This is version 166 of the entry and version 2 of the sequence. See 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. 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. Human chromosome 19
    Human chromosome 19: entries, gene names and cross-references to MIM
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