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Protein

Probable ATP-dependent RNA helicase DDX49

Gene

DDX49

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

Functioni

Catalytic activityi

ATP + H2O = ADP + phosphate.

Regions

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Nucleotide bindingi46 – 538ATPPROSITE-ProRule annotation

GO - Molecular functioni

  • ATP binding Source: UniProtKB-KW
  • ATP-dependent RNA helicase activity Source: GO_Central
  • poly(A) RNA binding Source: UniProtKB

GO - Biological processi

Complete GO annotation...

Keywords - Molecular functioni

Helicase, Hydrolase

Keywords - Ligandi

ATP-binding, Nucleotide-binding, RNA-binding

Enzyme and pathway databases

ReactomeiR-HSA-6790901. rRNA modification in the nucleus.
R-HSA-6791226. Major pathway of rRNA processing in the nucleolus.

Names & Taxonomyi

Protein namesi
Recommended name:
Probable ATP-dependent RNA helicase DDX49 (EC:3.6.4.13)
Alternative name(s):
DEAD box protein 49
Gene namesi
Name:DDX49
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 19

Organism-specific databases

HGNCiHGNC:18684. DDX49.

Subcellular locationi

GO - Cellular componenti

Complete GO annotation...

Pathology & Biotechi

Organism-specific databases

PharmGKBiPA134956171.

Polymorphism and mutation databases

BioMutaiDDX49.
DMDMi74753527.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 483483Probable ATP-dependent RNA helicase DDX49PRO_0000055052Add
BLAST

Proteomic databases

EPDiQ9Y6V7.
MaxQBiQ9Y6V7.
PaxDbiQ9Y6V7.
PeptideAtlasiQ9Y6V7.
PRIDEiQ9Y6V7.

PTM databases

iPTMnetiQ9Y6V7.
PhosphoSiteiQ9Y6V7.

Expressioni

Gene expression databases

BgeeiENSG00000105671.
CleanExiHS_DDX49.
ExpressionAtlasiQ9Y6V7. baseline and differential.
GenevisibleiQ9Y6V7. HS.

Organism-specific databases

HPAiHPA041870.
HPA048093.

Interactioni

Protein-protein interaction databases

BioGridi120040. 11 interactions.
IntActiQ9Y6V7. 5 interactions.
STRINGi9606.ENSP00000247003.

Structurei

3D structure databases

ProteinModelPortaliQ9Y6V7.
SMRiQ9Y6V7. Positions 4-373.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Domaini33 – 207175Helicase ATP-bindingPROSITE-ProRule annotationAdd
BLAST
Domaini218 – 382165Helicase C-terminalPROSITE-ProRule annotationAdd
BLAST

Motif

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Motifi2 – 3029Q motifAdd
BLAST
Motifi152 – 1554DEAD box

Sequence similaritiesi

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

Phylogenomic databases

eggNOGiKOG0330. Eukaryota.
ENOG410XQU7. LUCA.
GeneTreeiENSGT00730000111231.
HOGENOMiHOG000205323.
HOVERGENiHBG100512.
InParanoidiQ9Y6V7.
KOiK14778.
OMAiNYDVPRN.
OrthoDBiEOG091G07QH.
PhylomeDBiQ9Y6V7.
TreeFamiTF320511.

Family and domain databases

Gene3Di3.40.50.300. 2 hits.
InterProiIPR011545. DEAD/DEAH_box_helicase_dom.
IPR014001. Helicase_ATP-bd.
IPR001650. Helicase_C.
IPR027417. P-loop_NTPase.
IPR000629. RNA-helicase_DEAD-box_CS.
IPR014014. RNA_helicase_DEAD_Q_motif.
[Graphical view]
PfamiPF00270. DEAD. 1 hit.
PF00271. Helicase_C. 1 hit.
[Graphical view]
SMARTiSM00487. DEXDc. 1 hit.
SM00490. HELICc. 1 hit.
[Graphical view]
SUPFAMiSSF52540. SSF52540. 1 hit.
PROSITEiPS00039. DEAD_ATP_HELICASE. 1 hit.
PS51192. HELICASE_ATP_BIND_1. 1 hit.
PS51194. HELICASE_CTER. 1 hit.
PS51195. Q_MOTIF. 1 hit.
[Graphical view]

Sequences (2)i

Sequence statusi: Complete.

This entry describes 2 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: Q9Y6V7-1) [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
MAGFAELGLS SWLVEQCRQL GLKQPTPVQL GCIPAILEGR DCLGCAKTGS
60 70 80 90 100
GKTAAFVLPI LQKLSEDPYG IFCLVLTPTR ELAYQIAEQF RVLGKPLGLK
110 120 130 140 150
DCIIVGGMDM VAQALELSRK PHVVIATPGR LADHLRSSNT FSIKKIRFLV
160 170 180 190 200
MDEADRLLEQ GCTDFTVDLE AILAAVPARR QTLLFSATLT DTLRELQGLA
210 220 230 240 250
TNQPFFWEAQ APVSTVEQLD QRYLLVPEKV KDAYLVHLIQ RFQDEHEDWS
260 270 280 290 300
IIIFTNTCKT CQILCMMLRK FSFPTVALHS MMKQKERFAA LAKFKSSIYR
310 320 330 340 350
ILIATDVASR GLDIPTVQVV INHNTPGLPK IYIHRVGRTA RAGRQGQAIT
360 370 380 390 400
LVTQYDIHLV HAIEEQIKKK LEEFSVEEAE VLQILTQVNV VRRECEIKLE
410 420 430 440 450
AAHFDEKKEI NKRKQLILEG KDPDLEAKRK AELAKIKQKN RRFKEKVEET
460 470 480
LKRQKAGRAG HKGRPPRTPS GSHSGPVPSQ GLV
Length:483
Mass (Da):54,226
Last modified:November 1, 1999 - v1
Checksum:i2B46DD6A992B2532
GO
Isoform 2 (identifier: Q9Y6V7-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-107: Missing.
     312-361: LDIPTVQVVI...VTQYDIHLVH → ADQPPLPPGA...QGGRVRPSRW
     362-483: Missing.

Note: No experimental confirmation available.
Show »
Length:254
Mass (Da):28,723
Checksum:i04AEFD5728193AD1
GO

Experimental Info

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti35 – 351A → V in BAD97014 (Ref. 1) Curated

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti222 – 2221R → H.
Corresponds to variant rs35802425 [ dbSNP | Ensembl ].
VAR_033858
Natural varianti296 – 2961S → A.
Corresponds to variant rs35614860 [ dbSNP | Ensembl ].
VAR_033859
Natural varianti413 – 4131R → W.
Corresponds to variant rs16995781 [ dbSNP | Ensembl ].
VAR_052167

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei1 – 107107Missing in isoform 2. 1 PublicationVSP_056367Add
BLAST
Alternative sequencei312 – 36150LDIPT…IHLVH → ADQPPLPPGAWTSLRYRWSS TTTPPGSPRSTSTESAGRPV QGGRVRPSRW in isoform 2. 1 PublicationVSP_056368Add
BLAST
Alternative sequencei362 – 483122Missing in isoform 2. 1 PublicationVSP_056369Add
BLAST

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AK223294 mRNA. Translation: BAD97014.1.
AC002985 Genomic DNA. Translation: AAB81544.1.
CH471106 Genomic DNA. Translation: EAW84758.1.
BC000979 mRNA. Translation: AAH00979.2.
BC002674 mRNA. Translation: AAH02674.1.
CCDSiCCDS12390.1. [Q9Y6V7-1]
RefSeqiNP_061943.2. NM_019070.4. [Q9Y6V7-1]
UniGeneiHs.143187.

Genome annotation databases

EnsembliENST00000247003; ENSP00000247003; ENSG00000105671. [Q9Y6V7-1]
GeneIDi54555.
KEGGihsa:54555.
UCSCiuc002nkq.3. human. [Q9Y6V7-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AK223294 mRNA. Translation: BAD97014.1.
AC002985 Genomic DNA. Translation: AAB81544.1.
CH471106 Genomic DNA. Translation: EAW84758.1.
BC000979 mRNA. Translation: AAH00979.2.
BC002674 mRNA. Translation: AAH02674.1.
CCDSiCCDS12390.1. [Q9Y6V7-1]
RefSeqiNP_061943.2. NM_019070.4. [Q9Y6V7-1]
UniGeneiHs.143187.

3D structure databases

ProteinModelPortaliQ9Y6V7.
SMRiQ9Y6V7. Positions 4-373.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi120040. 11 interactions.
IntActiQ9Y6V7. 5 interactions.
STRINGi9606.ENSP00000247003.

PTM databases

iPTMnetiQ9Y6V7.
PhosphoSiteiQ9Y6V7.

Polymorphism and mutation databases

BioMutaiDDX49.
DMDMi74753527.

Proteomic databases

EPDiQ9Y6V7.
MaxQBiQ9Y6V7.
PaxDbiQ9Y6V7.
PeptideAtlasiQ9Y6V7.
PRIDEiQ9Y6V7.

Protocols and materials databases

DNASUi54555.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000247003; ENSP00000247003; ENSG00000105671. [Q9Y6V7-1]
GeneIDi54555.
KEGGihsa:54555.
UCSCiuc002nkq.3. human. [Q9Y6V7-1]

Organism-specific databases

CTDi54555.
GeneCardsiDDX49.
HGNCiHGNC:18684. DDX49.
HPAiHPA041870.
HPA048093.
neXtProtiNX_Q9Y6V7.
PharmGKBiPA134956171.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG0330. Eukaryota.
ENOG410XQU7. LUCA.
GeneTreeiENSGT00730000111231.
HOGENOMiHOG000205323.
HOVERGENiHBG100512.
InParanoidiQ9Y6V7.
KOiK14778.
OMAiNYDVPRN.
OrthoDBiEOG091G07QH.
PhylomeDBiQ9Y6V7.
TreeFamiTF320511.

Enzyme and pathway databases

ReactomeiR-HSA-6790901. rRNA modification in the nucleus.
R-HSA-6791226. Major pathway of rRNA processing in the nucleolus.

Miscellaneous databases

GenomeRNAii54555.
PROiQ9Y6V7.

Gene expression databases

BgeeiENSG00000105671.
CleanExiHS_DDX49.
ExpressionAtlasiQ9Y6V7. baseline and differential.
GenevisibleiQ9Y6V7. HS.

Family and domain databases

Gene3Di3.40.50.300. 2 hits.
InterProiIPR011545. DEAD/DEAH_box_helicase_dom.
IPR014001. Helicase_ATP-bd.
IPR001650. Helicase_C.
IPR027417. P-loop_NTPase.
IPR000629. RNA-helicase_DEAD-box_CS.
IPR014014. RNA_helicase_DEAD_Q_motif.
[Graphical view]
PfamiPF00270. DEAD. 1 hit.
PF00271. Helicase_C. 1 hit.
[Graphical view]
SMARTiSM00487. DEXDc. 1 hit.
SM00490. HELICc. 1 hit.
[Graphical view]
SUPFAMiSSF52540. SSF52540. 1 hit.
PROSITEiPS00039. DEAD_ATP_HELICASE. 1 hit.
PS51192. HELICASE_ATP_BIND_1. 1 hit.
PS51194. HELICASE_CTER. 1 hit.
PS51195. Q_MOTIF. 1 hit.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiDDX49_HUMAN
AccessioniPrimary (citable) accession number: Q9Y6V7
Secondary accession number(s): E7ENA0, Q53FJ1, Q9BVQ8
Entry historyi
Integrated into UniProtKB/Swiss-Prot: September 27, 2005
Last sequence update: November 1, 1999
Last modified: September 7, 2016
This is version 131 of the entry and version 1 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 19
    Human chromosome 19: entries, gene names and cross-references to MIM
  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. 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.