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Q5T1V6 (DDX59_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified July 9, 2014. Version 99. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (6) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended 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 names
Name:DDX59
Synonyms:ZNHIT5
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length619 AA.
Sequence statusComplete.
Protein existenceEvidence at protein level

General annotation (Comments)

Catalytic activity

ATP + H2O = ADP + phosphate.

Subcellular location

Cytoplasm. Nucleus. Note: Exhibits granular localization in the nucleus, as well as in the cytoplasm. Ref.10

Tissue specificity

Expressed in fibroblasts (at protein level). Ref.10

Domain

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

Involvement in disease

Orofaciodigital syndrome 5 (OFD5) [MIM:174300]: A 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.
Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.10

Sequence similarities

Belongs to the DEAD box helicase family. DDX59 subfamily.

Contains 1 helicase ATP-binding domain.

Contains 1 helicase C-terminal domain.

Contains 1 HIT-type zinc finger.

Sequence caution

The sequence AAH14183.1 differs from that shown. Reason: Contaminating sequence. Potential poly-A sequence starting in position 433.

Alternative products

This entry describes 2 isoforms produced by alternative splicing. [Align] [Select]
Isoform 1 (identifier: Q5T1V6-1)

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.
Isoform 2 (identifier: Q5T1V6-2)

The sequence of this isoform differs from the canonical sequence as follows:
     533-619: IGRVGRLGQN...RKHDKSNSQK → ENTYKSTWRN...KLGLKKNCSS
Note: No experimental confirmation available.

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 619619Probable ATP-dependent RNA helicase DDX59
PRO_0000282713

Regions

Domain234 – 405172Helicase ATP-binding
Domain416 – 579164Helicase C-terminal
Zinc finger104 – 13330HIT-type
Nucleotide binding247 – 2548ATP By similarity
Motif203 – 23129Q motif
Motif353 – 3564DEAD box

Amino acid modifications

Modified residue641Phosphoserine Ref.4
Modified residue1601Phosphoserine Ref.5

Natural variations

Alternative sequence533 – 61987IGRVG…SNSQK → ENTYKSTWRNPQHFQQDVRM TLGYVGKAQWEEDNQLKVKL GLKKNCSS in isoform 2.
VSP_024227
Natural variant771P → T in a breast cancer sample; somatic mutation. Ref.9
VAR_035842
Natural variant1071I → V.
Corresponds to variant rs3795634 [ dbSNP | Ensembl ].
VAR_031424
Natural variant3671V → G in OFD5; markedly reduced expression in fibroblasts compared to wild-type protein; impaired SHH signaling in SAG-treated fibroblasts. Ref.10
VAR_070198
Natural variant4721S → R. Ref.3
Corresponds to variant rs17854157 [ dbSNP | Ensembl ].
VAR_033001
Natural variant5341G → R in OFD5. Ref.10
VAR_070199

Secondary structure

.......... 619
Helix Strand Turn

Details...

Sequences

Sequence LengthMass (Da)Tools
Isoform 1 [UniParc].

Last modified December 21, 2004. Version 1.
Checksum: 2B4EE96C11CB48ED

FASTA61968,810
        10         20         30         40         50         60 
MFVPRSLKIK RNANDDGKSC VAKIIKPDPE DLQLDKSRDV PVDAVATEAA TIDRHISESC 

        70         80         90        100        110        120 
PFPSPGGQLA EVHSVSPEQG AKDSHPSEEP VKSFSKTQRW AEPGEPICVV CGRYGEYICD 

       130        140        150        160        170        180 
KTDEDVCSLE CKAKHLLQVK EKEEKSKLSN PQKADSEPES PLNASYVYKE HPFILNLQED 

       190        200        210        220        230        240 
QIENLKQQLG ILVQGQEVTR PIIDFEHCSL PEVLNHNLKK SGYEVPTPIQ MQMIPVGLLG 

       250        260        270        280        290        300 
RDILASADTG SGKTAAFLLP VIMRALFESK TPSALILTPT RELAIQIERQ AKELMSGLPR 

       310        320        330        340        350        360 
MKTVLLVGGL PLPPQLYRLQ QHVKVIIATP GRLLDIIKQS SVELCGVKIV VVDEADTMLK 

       370        380        390        400        410        420 
MGFQQQVLDI LENIPNDCQT ILVSATIPTS IEQLASQLLH NPVRIITGEK NLPCANVRQI 

       430        440        450        460        470        480 
ILWVEDPAKK KKLFEILNDK KLFKPPVLVF VDCKLGADLL SEAVQKITGL KSISIHSEKS 

       490        500        510        520        530        540 
QIERKNILKG LLEGDYEVVV STGVLGRGLD LISVRLVVNF DMPSSMDEYV HQIGRVGRLG 

       550        560        570        580        590        600 
QNGTAITFIN NNSKRLFWDI AKRVKPTGSI LPPQLLNSPY LHDQKRKEQQ KDKQTQNDLV 

       610 
TGANLMDIIR KHDKSNSQK 

« Hide

Isoform 2 [UniParc].

Checksum: 11BD25D69906898E
Show »

FASTA58064,572

References

« Hide 'large scale' references
[1]"Towards a catalog of human genes and proteins: sequencing and analysis of 500 novel complete protein coding human cDNAs."
Wiemann S., Weil B., Wellenreuther R., Gassenhuber J., Glassl S., Ansorge W., Boecher M., Bloecker H., Bauersachs S., Blum H., Lauber J., Duesterhoeft A., Beyer A., Koehrer K., Strack N., Mewes H.-W., Ottenwaelder B., Obermaier B. expand/collapse author list , Tampe J., Heubner D., Wambutt R., Korn B., Klein M., Poustka A.
Genome Res. 11:422-435(2001) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2).
Tissue: Fetal brain.
[2]"The DNA sequence and biological annotation of human chromosome 1."
Gregory S.G., Barlow K.F., McLay K.E., Kaul R., Swarbreck D., Dunham A., Scott C.E., Howe K.L., Woodfine K., Spencer C.C.A., Jones M.C., Gillson C., Searle S., Zhou Y., Kokocinski F., McDonald L., Evans R., Phillips K. expand/collapse author list , Atkinson A., Cooper R., Jones C., Hall R.E., Andrews T.D., Lloyd C., Ainscough R., Almeida J.P., Ambrose K.D., Anderson F., Andrew R.W., Ashwell R.I.S., Aubin K., Babbage A.K., Bagguley C.L., Bailey J., Beasley H., Bethel G., Bird C.P., Bray-Allen S., Brown J.Y., Brown A.J., Buckley D., Burton J., Bye J., Carder C., Chapman J.C., Clark S.Y., Clarke G., Clee C., Cobley V., Collier R.E., Corby N., Coville G.J., Davies J., Deadman R., Dunn M., Earthrowl M., Ellington A.G., Errington H., Frankish A., Frankland J., French L., Garner P., Garnett J., Gay L., Ghori M.R.J., Gibson R., Gilby L.M., Gillett W., Glithero R.J., Grafham D.V., Griffiths C., Griffiths-Jones S., Grocock R., Hammond S., Harrison E.S.I., Hart E., Haugen E., Heath P.D., Holmes S., Holt K., Howden P.J., Hunt A.R., Hunt S.E., Hunter G., Isherwood J., James R., Johnson C., Johnson D., Joy A., Kay M., Kershaw J.K., Kibukawa M., Kimberley A.M., King A., Knights A.J., Lad H., Laird G., Lawlor S., Leongamornlert D.A., Lloyd D.M., Loveland J., Lovell J., Lush M.J., Lyne R., Martin S., Mashreghi-Mohammadi M., Matthews L., Matthews N.S.W., McLaren S., Milne S., Mistry S., Moore M.J.F., Nickerson T., O'Dell C.N., Oliver K., Palmeiri A., Palmer S.A., Parker A., Patel D., Pearce A.V., Peck A.I., Pelan S., Phelps K., Phillimore B.J., Plumb R., Rajan J., Raymond C., Rouse G., Saenphimmachak C., Sehra H.K., Sheridan E., Shownkeen R., Sims S., Skuce C.D., Smith M., Steward C., Subramanian S., Sycamore N., Tracey A., Tromans A., Van Helmond Z., Wall M., Wallis J.M., White S., Whitehead S.L., Wilkinson J.E., Willey D.L., Williams H., Wilming L., Wray P.W., Wu Z., Coulson A., Vaudin M., Sulston J.E., Durbin R.M., Hubbard T., Wooster R., Dunham I., Carter N.P., McVean G., Ross M.T., Harrow J., Olson M.V., Beck S., Rogers J., Bentley D.R.
Nature 441:315-321(2006) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[3]"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
The MGC Project Team
Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1), VARIANT ARG-472.
Tissue: Brain and Lung.
[4]"A quantitative atlas of mitotic phosphorylation."
Dephoure N., Zhou C., Villen J., Beausoleil S.A., Bakalarski C.E., Elledge S.J., Gygi S.P.
Proc. Natl. Acad. Sci. U.S.A. 105:10762-10767(2008) [PubMed] [Europe PMC] [Abstract]
Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-64, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
Tissue: Cervix carcinoma.
[5]"Quantitative phosphoproteomic analysis of T cell receptor signaling reveals system-wide modulation of protein-protein interactions."
Mayya V., Lundgren D.H., Hwang S.-I., Rezaul K., Wu L., Eng J.K., Rodionov V., Han D.K.
Sci. Signal. 2:RA46-RA46(2009) [PubMed] [Europe PMC] [Abstract]
Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-160, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
Tissue: Leukemic T-cell.
[6]"Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis."
Olsen J.V., Vermeulen M., Santamaria A., Kumar C., Miller M.L., Jensen L.J., Gnad F., Cox J., Jensen T.S., Nigg E.A., Brunak S., Mann M.
Sci. Signal. 3:RA3-RA3(2010) [PubMed] [Europe PMC] [Abstract]
Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
Tissue: Cervix carcinoma.
[7]"Initial characterization of the human central proteome."
Burkard T.R., Planyavsky M., Kaupe I., Breitwieser F.P., Buerckstuemmer T., Bennett K.L., Superti-Furga G., Colinge J.
BMC Syst. Biol. 5:17-17(2011) [PubMed] [Europe PMC] [Abstract]
Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
[8]"Solution structure of the ZF-hit domain in DEAD (Asp-Glu-Ala-Asp) box polypeptide 59."
RIKEN structural genomics initiative (RSGI)
Submitted (FEB-2009) to the PDB data bank
Cited for: STRUCTURE BY NMR OF 94-146.
[9]"The consensus coding sequences of human breast and colorectal cancers."
Sjoeblom T., Jones S., Wood L.D., Parsons D.W., Lin J., Barber T.D., Mandelker D., Leary R.J., Ptak J., Silliman N., Szabo S., Buckhaults P., Farrell C., Meeh P., Markowitz S.D., Willis J., Dawson D., Willson J.K.V. expand/collapse author list , Gazdar A.F., Hartigan J., Wu L., Liu C., Parmigiani G., Park B.H., Bachman K.E., Papadopoulos N., Vogelstein B., Kinzler K.W., Velculescu V.E.
Science 314:268-274(2006) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT [LARGE SCALE ANALYSIS] THR-77.
[10]"Mutations in DDX59 implicate RNA helicase in the pathogenesis of orofaciodigital syndrome."
Shamseldin H.E., Rajab A., Alhashem A., Shaheen R., Al-Shidi T., Alamro R., Al Harassi S., Alkuraya F.S.
Am. J. Hum. Genet. 93:555-560(2013) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS OFD5 GLY-367 AND ARG-534, CHARACTERIZATION OF VARIANT OFD5 GLY-367, SUBCELLULAR LOCATION, TISSUE SPECIFICITY.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
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.
CCDSCCDS30964.1. [Q5T1V6-1]
RefSeqNP_001026895.2. NM_001031725.4. [Q5T1V6-1]
UniGeneHs.497332.

3D structure databases

PDBe
RCSB-PDB
PDBj
EntryMethodResolution (Å)ChainPositionsPDBsum
2YQPNMR-A94-146[»]
ProteinModelPortalQ5T1V6.
SMRQ5T1V6. Positions 96-146, 168-581.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

MINTMINT-4714465.
STRING9606.ENSP00000330460.

PTM databases

PhosphoSiteQ5T1V6.

Polymorphism databases

DMDM74762230.

Proteomic databases

MaxQBQ5T1V6.
PaxDbQ5T1V6.
PRIDEQ5T1V6.

Protocols and materials databases

DNASU83479.
StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000331314; ENSP00000330460; ENSG00000118197. [Q5T1V6-1]
ENST00000447706; ENSP00000394367; ENSG00000118197. [Q5T1V6-2]
GeneID83479.
KEGGhsa:83479.
UCSCuc009wzk.3. human. [Q5T1V6-1]

Organism-specific databases

CTD83479.
GeneCardsGC01M200594.
HGNCHGNC:25360. DDX59.
HPAHPA047166.
MIM174300. phenotype.
615464. gene.
neXtProtNX_Q5T1V6.
Orphanet369902. Orofaciodigital syndrome type 14.
PharmGKBPA142672000.
GenAtlasSearch...

Phylogenomic databases

eggNOGCOG0513.
HOGENOMHOG000006599.
HOVERGENHBG106120.
InParanoidQ5T1V6.
OMAEHPFILN.
OrthoDBEOG7B8S3D.
PhylomeDBQ5T1V6.
TreeFamTF330866.

Gene expression databases

ArrayExpressQ5T1V6.
BgeeQ5T1V6.
CleanExHS_DDX59.
GenevestigatorQ5T1V6.

Family and domain databases

Gene3D3.40.50.300. 2 hits.
InterProIPR011545. DNA/RNA_helicase_DEAD/DEAH_N.
IPR014001. Helicase_ATP-bd.
IPR001650. Helicase_C.
IPR027417. P-loop_NTPase.
IPR014014. RNA_helicase_DEAD_Q_motif.
IPR007529. Znf_HIT.
[Graphical view]
PfamPF00270. DEAD. 1 hit.
PF00271. Helicase_C. 1 hit.
PF04438. zf-HIT. 1 hit.
[Graphical view]
SMARTSM00487. DEXDc. 1 hit.
SM00490. HELICc. 1 hit.
[Graphical view]
SUPFAMSSF52540. SSF52540. 2 hits.
PROSITEPS51192. HELICASE_ATP_BIND_1. 1 hit.
PS51194. HELICASE_CTER. 1 hit.
PS51195. Q_MOTIF. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

EvolutionaryTraceQ5T1V6.
GeneWikiDDX59.
GenomeRNAi83479.
NextBio72419.
PROQ5T1V6.
SOURCESearch...

Entry information

Entry nameDDX59_HUMAN
AccessionPrimary (citable) accession number: Q5T1V6
Secondary accession number(s): Q6PJL2, Q8IVW3, Q9H0W3
Entry history
Integrated into UniProtKB/Swiss-Prot: April 3, 2007
Last sequence update: December 21, 2004
Last modified: July 9, 2014
This is version 99 of the entry and version 1 of the sequence. [Complete history]
Entry statusReviewed (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.

Relevant documents

SIMILARITY comments

Index of protein domains and families

PDB cross-references

Index of Protein Data Bank (PDB) cross-references

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 1

Human chromosome 1: entries, gene names and cross-references to MIM