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Protein

Probable ATP-dependent RNA helicase DDX59

Gene

DDX59

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

Functioni

Catalytic activityi

ATP + H2O = ADP + phosphate.

Regions

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Zinc fingeri104 – 133HIT-typeAdd BLAST30
Nucleotide bindingi247 – 254ATPPROSITE-ProRule annotation8

GO - Molecular functioni

GO - Biological processi

Complete GO annotation...

Keywords - Molecular functioni

Helicase, Hydrolase

Keywords - Ligandi

ATP-binding, Metal-binding, Nucleotide-binding, RNA-binding, Zinc

Names & Taxonomyi

Protein namesi
Recommended name:
Probable ATP-dependent RNA helicase DDX59 (EC:3.6.4.13)
Alternative name(s):
DEAD box protein 59
Zinc finger HIT domain-containing protein 5
Gene namesi
Name:DDX59
Synonyms:ZNHIT5
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 1

Organism-specific databases

HGNCiHGNC:25360. DDX59.

Subcellular locationi

GO - Cellular componenti

Complete GO annotation...

Keywords - Cellular componenti

Cytoplasm, Nucleus

Pathology & Biotechi

Involvement in diseasei

Orofaciodigital syndrome 5 (OFD5)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA form of orofaciodigital syndrome, a group of heterogeneous disorders characterized by malformations of the oral cavity, face and digits, and associated phenotypic abnormalities that lead to the delineation of various subtypes. OFD5 patients show the core features of cleft palate, lobulated tongue, and polydactyly. Additional features include frontal bossing and intellectual disability.
See also OMIM:174300
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_070198367V → G in OFD5; markedly reduced expression in fibroblasts compared to wild-type protein; impaired SHH signaling in SAG-treated fibroblasts. 1 PublicationCorresponds to variant rs587777067dbSNPEnsembl.1
Natural variantiVAR_070199534G → R in OFD5. 1 Publication1

Keywords - Diseasei

Ciliopathy, Disease mutation

Organism-specific databases

DisGeNETi83479.
MalaCardsiDDX59.
MIMi174300. phenotype.
OpenTargetsiENSG00000118197.
Orphaneti369902. Orofaciodigital syndrome type 14.
PharmGKBiPA142672000.

Polymorphism and mutation databases

BioMutaiDDX59.
DMDMi74762230.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00002827131 – 619Probable ATP-dependent RNA helicase DDX59Add BLAST619

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei64PhosphoserineCombined sources1
Modified residuei76PhosphoserineCombined sources1
Modified residuei156PhosphoserineCombined sources1
Modified residuei160PhosphoserineCombined sources1

Keywords - PTMi

Phosphoprotein

Proteomic databases

EPDiQ5T1V6.
MaxQBiQ5T1V6.
PaxDbiQ5T1V6.
PeptideAtlasiQ5T1V6.
PRIDEiQ5T1V6.

PTM databases

iPTMnetiQ5T1V6.
PhosphoSitePlusiQ5T1V6.

Expressioni

Tissue specificityi

Expressed in fibroblasts (at protein level).1 Publication

Gene expression databases

BgeeiENSG00000118197.
CleanExiHS_DDX59.
ExpressionAtlasiQ5T1V6. baseline and differential.
GenevisibleiQ5T1V6. HS.

Organism-specific databases

HPAiHPA047166.

Interactioni

Protein-protein interaction databases

BioGridi123664. 3 interactors.
MINTiMINT-4714465.
STRINGi9606.ENSP00000330460.

Structurei

Secondary structure

1619
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Beta strandi109 – 113Combined sources5
Beta strandi116 – 118Combined sources3
Beta strandi120 – 122Combined sources3
Beta strandi125 – 128Combined sources4
Helixi129 – 143Combined sources15

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
2YQPNMR-A94-146[»]
ProteinModelPortaliQ5T1V6.
SMRiQ5T1V6.
ModBaseiSearch...
MobiDBiSearch...

Miscellaneous databases

EvolutionaryTraceiQ5T1V6.

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini234 – 405Helicase ATP-bindingPROSITE-ProRule annotationAdd BLAST172
Domaini416 – 579Helicase C-terminalPROSITE-ProRule annotationAdd BLAST164

Motif

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Motifi203 – 231Q motifAdd BLAST29
Motifi353 – 356DEAD box4

Domaini

The Q motif is unique to and characteristic of the DEAD box family of RNA helicases and controls ATP binding and hydrolysis.

Sequence similaritiesi

Contains 1 helicase ATP-binding domain.PROSITE-ProRule annotation
Contains 1 helicase C-terminal domain.PROSITE-ProRule annotation
Contains 1 HIT-type zinc finger.Curated

Zinc finger

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Zinc fingeri104 – 133HIT-typeAdd BLAST30

Keywords - Domaini

Zinc-finger

Phylogenomic databases

eggNOGiKOG0331. Eukaryota.
COG0513. LUCA.
GeneTreeiENSGT00820000127023.
HOGENOMiHOG000006599.
HOVERGENiHBG106120.
InParanoidiQ5T1V6.
KOiK19466.
OMAiVDTMLKM.
OrthoDBiEOG091G04X9.
PhylomeDBiQ5T1V6.
TreeFamiTF330866.

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.
IPR014014. RNA_helicase_DEAD_Q_motif.
IPR007529. Znf_HIT.
[Graphical view]
PfamiPF00270. DEAD. 1 hit.
PF00271. Helicase_C. 1 hit.
PF04438. zf-HIT. 1 hit.
[Graphical view]
SMARTiSM00487. DEXDc. 1 hit.
SM00490. HELICc. 1 hit.
[Graphical view]
SUPFAMiSSF52540. SSF52540. 2 hits.
PROSITEiPS51192. 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: Q5T1V6-1) [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
MFVPRSLKIK RNANDDGKSC VAKIIKPDPE DLQLDKSRDV PVDAVATEAA
60 70 80 90 100
TIDRHISESC PFPSPGGQLA EVHSVSPEQG AKDSHPSEEP VKSFSKTQRW
110 120 130 140 150
AEPGEPICVV CGRYGEYICD KTDEDVCSLE CKAKHLLQVK EKEEKSKLSN
160 170 180 190 200
PQKADSEPES PLNASYVYKE HPFILNLQED QIENLKQQLG ILVQGQEVTR
210 220 230 240 250
PIIDFEHCSL PEVLNHNLKK SGYEVPTPIQ MQMIPVGLLG RDILASADTG
260 270 280 290 300
SGKTAAFLLP VIMRALFESK TPSALILTPT RELAIQIERQ AKELMSGLPR
310 320 330 340 350
MKTVLLVGGL PLPPQLYRLQ QHVKVIIATP GRLLDIIKQS SVELCGVKIV
360 370 380 390 400
VVDEADTMLK MGFQQQVLDI LENIPNDCQT ILVSATIPTS IEQLASQLLH
410 420 430 440 450
NPVRIITGEK NLPCANVRQI ILWVEDPAKK KKLFEILNDK KLFKPPVLVF
460 470 480 490 500
VDCKLGADLL SEAVQKITGL KSISIHSEKS QIERKNILKG LLEGDYEVVV
510 520 530 540 550
STGVLGRGLD LISVRLVVNF DMPSSMDEYV HQIGRVGRLG QNGTAITFIN
560 570 580 590 600
NNSKRLFWDI AKRVKPTGSI LPPQLLNSPY LHDQKRKEQQ KDKQTQNDLV
610
TGANLMDIIR KHDKSNSQK
Length:619
Mass (Da):68,810
Last modified:December 21, 2004 - v1
Checksum:i2B4EE96C11CB48ED
GO
Isoform 2 (identifier: Q5T1V6-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     533-619: IGRVGRLGQN...RKHDKSNSQK → ENTYKSTWRN...KLGLKKNCSS

Note: No experimental confirmation available.
Show »
Length:580
Mass (Da):64,572
Checksum:i11BD25D69906898E
GO

Sequence cautioni

The sequence AAH14183 differs from that shown. Contaminating sequence. Potential poly-A sequence starting in position 433.Curated

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_03584277P → T in a breast cancer sample; somatic mutation. 1 Publication1
Natural variantiVAR_031424107I → V.Corresponds to variant rs3795634dbSNPEnsembl.1
Natural variantiVAR_070198367V → G in OFD5; markedly reduced expression in fibroblasts compared to wild-type protein; impaired SHH signaling in SAG-treated fibroblasts. 1 PublicationCorresponds to variant rs587777067dbSNPEnsembl.1
Natural variantiVAR_033001472S → R.1 PublicationCorresponds to variant rs17854157dbSNPEnsembl.1
Natural variantiVAR_070199534G → R in OFD5. 1 Publication1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_024227533 – 619IGRVG…SNSQK → ENTYKSTWRNPQHFQQDVRM TLGYVGKAQWEEDNQLKVKL GLKKNCSS in isoform 2. 1 PublicationAdd BLAST87

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AL136611 mRNA. Translation: CAB66546.1.
AL445483 Genomic DNA. Translation: CAI17055.1.
AL445483 Genomic DNA. Translation: CAI17056.1.
BC014183 mRNA. Translation: AAH14183.1. Sequence problems.
BC041801 mRNA. Translation: AAH41801.1.
CCDSiCCDS30964.1. [Q5T1V6-1]
RefSeqiNP_001026895.2. NM_001031725.5. [Q5T1V6-1]
NP_001307110.1. NM_001320181.1.
NP_001307111.1. NM_001320182.1.
XP_011508337.1. XM_011510035.2. [Q5T1V6-1]
XP_016857920.1. XM_017002431.1. [Q5T1V6-1]
XP_016857921.1. XM_017002432.1. [Q5T1V6-1]
UniGeneiHs.497332.

Genome annotation databases

EnsembliENST00000331314; ENSP00000330460; ENSG00000118197. [Q5T1V6-1]
ENST00000447706; ENSP00000394367; ENSG00000118197. [Q5T1V6-2]
GeneIDi83479.
KEGGihsa:83479.
UCSCiuc009wzk.4. human. [Q5T1V6-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AL136611 mRNA. Translation: CAB66546.1.
AL445483 Genomic DNA. Translation: CAI17055.1.
AL445483 Genomic DNA. Translation: CAI17056.1.
BC014183 mRNA. Translation: AAH14183.1. Sequence problems.
BC041801 mRNA. Translation: AAH41801.1.
CCDSiCCDS30964.1. [Q5T1V6-1]
RefSeqiNP_001026895.2. NM_001031725.5. [Q5T1V6-1]
NP_001307110.1. NM_001320181.1.
NP_001307111.1. NM_001320182.1.
XP_011508337.1. XM_011510035.2. [Q5T1V6-1]
XP_016857920.1. XM_017002431.1. [Q5T1V6-1]
XP_016857921.1. XM_017002432.1. [Q5T1V6-1]
UniGeneiHs.497332.

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
2YQPNMR-A94-146[»]
ProteinModelPortaliQ5T1V6.
SMRiQ5T1V6.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi123664. 3 interactors.
MINTiMINT-4714465.
STRINGi9606.ENSP00000330460.

PTM databases

iPTMnetiQ5T1V6.
PhosphoSitePlusiQ5T1V6.

Polymorphism and mutation databases

BioMutaiDDX59.
DMDMi74762230.

Proteomic databases

EPDiQ5T1V6.
MaxQBiQ5T1V6.
PaxDbiQ5T1V6.
PeptideAtlasiQ5T1V6.
PRIDEiQ5T1V6.

Protocols and materials databases

DNASUi83479.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000331314; ENSP00000330460; ENSG00000118197. [Q5T1V6-1]
ENST00000447706; ENSP00000394367; ENSG00000118197. [Q5T1V6-2]
GeneIDi83479.
KEGGihsa:83479.
UCSCiuc009wzk.4. human. [Q5T1V6-1]

Organism-specific databases

CTDi83479.
DisGeNETi83479.
GeneCardsiDDX59.
HGNCiHGNC:25360. DDX59.
HPAiHPA047166.
MalaCardsiDDX59.
MIMi174300. phenotype.
615464. gene.
neXtProtiNX_Q5T1V6.
OpenTargetsiENSG00000118197.
Orphaneti369902. Orofaciodigital syndrome type 14.
PharmGKBiPA142672000.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG0331. Eukaryota.
COG0513. LUCA.
GeneTreeiENSGT00820000127023.
HOGENOMiHOG000006599.
HOVERGENiHBG106120.
InParanoidiQ5T1V6.
KOiK19466.
OMAiVDTMLKM.
OrthoDBiEOG091G04X9.
PhylomeDBiQ5T1V6.
TreeFamiTF330866.

Miscellaneous databases

EvolutionaryTraceiQ5T1V6.
GeneWikiiDDX59.
GenomeRNAii83479.
PROiQ5T1V6.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000118197.
CleanExiHS_DDX59.
ExpressionAtlasiQ5T1V6. baseline and differential.
GenevisibleiQ5T1V6. 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.
IPR014014. RNA_helicase_DEAD_Q_motif.
IPR007529. Znf_HIT.
[Graphical view]
PfamiPF00270. DEAD. 1 hit.
PF00271. Helicase_C. 1 hit.
PF04438. zf-HIT. 1 hit.
[Graphical view]
SMARTiSM00487. DEXDc. 1 hit.
SM00490. HELICc. 1 hit.
[Graphical view]
SUPFAMiSSF52540. SSF52540. 2 hits.
PROSITEiPS51192. HELICASE_ATP_BIND_1. 1 hit.
PS51194. HELICASE_CTER. 1 hit.
PS51195. Q_MOTIF. 1 hit.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiDDX59_HUMAN
AccessioniPrimary (citable) accession number: Q5T1V6
Secondary accession number(s): Q6PJL2, Q8IVW3, Q9H0W3
Entry historyi
Integrated into UniProtKB/Swiss-Prot: April 3, 2007
Last sequence update: December 21, 2004
Last modified: November 2, 2016
This is version 123 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

3D-structure, Complete proteome, Reference proteome

Documents

  1. Human chromosome 1
    Human chromosome 1: 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. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  6. 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.