GenomeNet

Database: UniProt
Entry: Q9Y6V7
LinkDB: Q9Y6V7
Original site: Q9Y6V7 
ID   DDX49_HUMAN             Reviewed;         483 AA.
AC   Q9Y6V7; E7ENA0; Q53FJ1; Q9BVQ8;
DT   27-SEP-2005, integrated into UniProtKB/Swiss-Prot.
DT   01-NOV-1999, sequence version 1.
DT   16-OCT-2019, entry version 158.
DE   RecName: Full=Probable ATP-dependent RNA helicase DDX49;
DE            EC=3.6.4.13;
DE   AltName: Full=DEAD box protein 49;
GN   Name=DDX49;
OS   Homo sapiens (Human).
OC   Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
OC   Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
OC   Catarrhini; Hominidae; Homo.
OX   NCBI_TaxID=9606;
RN   [1]
RP   NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
RC   TISSUE=Synovial cell;
RA   Suzuki Y., Sugano S., Totoki Y., Toyoda A., Takeda T., Sakaki Y.,
RA   Tanaka A., Yokoyama S.;
RL   Submitted (APR-2005) to the EMBL/GenBank/DDBJ databases.
RN   [2]
RP   NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX   PubMed=15057824; DOI=10.1038/nature02399;
RA   Grimwood J., Gordon L.A., Olsen A.S., Terry A., Schmutz J.,
RA   Lamerdin J.E., Hellsten U., Goodstein D., Couronne O., Tran-Gyamfi M.,
RA   Aerts A., Altherr M., Ashworth L., Bajorek E., Black S., Branscomb E.,
RA   Caenepeel S., Carrano A.V., Caoile C., Chan Y.M., Christensen M.,
RA   Cleland C.A., Copeland A., Dalin E., Dehal P., Denys M., Detter J.C.,
RA   Escobar J., Flowers D., Fotopulos D., Garcia C., Georgescu A.M.,
RA   Glavina T., Gomez M., Gonzales E., Groza M., Hammon N., Hawkins T.,
RA   Haydu L., Ho I., Huang W., Israni S., Jett J., Kadner K., Kimball H.,
RA   Kobayashi A., Larionov V., Leem S.-H., Lopez F., Lou Y., Lowry S.,
RA   Malfatti S., Martinez D., McCready P.M., Medina C., Morgan J.,
RA   Nelson K., Nolan M., Ovcharenko I., Pitluck S., Pollard M.,
RA   Popkie A.P., Predki P., Quan G., Ramirez L., Rash S., Retterer J.,
RA   Rodriguez A., Rogers S., Salamov A., Salazar A., She X., Smith D.,
RA   Slezak T., Solovyev V., Thayer N., Tice H., Tsai M., Ustaszewska A.,
RA   Vo N., Wagner M., Wheeler J., Wu K., Xie G., Yang J., Dubchak I.,
RA   Furey T.S., DeJong P., Dickson M., Gordon D., Eichler E.E.,
RA   Pennacchio L.A., Richardson P., Stubbs L., Rokhsar D.S., Myers R.M.,
RA   Rubin E.M., Lucas S.M.;
RT   "The DNA sequence and biology of human chromosome 19.";
RL   Nature 428:529-535(2004).
RN   [3]
RP   NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RA   Mural R.J., Istrail S., Sutton G., Florea L., Halpern A.L.,
RA   Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R.,
RA   Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V.,
RA   Hannenhalli S., Turner R., Yooseph S., Lu F., Nusskern D.R.,
RA   Shue B.C., Zheng X.H., Zhong F., Delcher A.L., Huson D.H.,
RA   Kravitz S.A., Mouchard L., Reinert K., Remington K.A., Clark A.G.,
RA   Waterman M.S., Eichler E.E., Adams M.D., Hunkapiller M.W., Myers E.W.,
RA   Venter J.C.;
RL   Submitted (JUL-2005) to the EMBL/GenBank/DDBJ databases.
RN   [4]
RP   NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1 AND 2).
RC   TISSUE=Cervix, and Uterus;
RX   PubMed=15489334; DOI=10.1101/gr.2596504;
RG   The MGC Project Team;
RT   "The status, quality, and expansion of the NIH full-length cDNA
RT   project: the Mammalian Gene Collection (MGC).";
RL   Genome Res. 14:2121-2127(2004).
RN   [5]
RP   IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
RX   PubMed=21269460; DOI=10.1186/1752-0509-5-17;
RA   Burkard T.R., Planyavsky M., Kaupe I., Breitwieser F.P.,
RA   Buerckstuemmer T., Bennett K.L., Superti-Furga G., Colinge J.;
RT   "Initial characterization of the human central proteome.";
RL   BMC Syst. Biol. 5:17-17(2011).
CC   -!- CATALYTIC ACTIVITY:
CC       Reaction=ATP + H2O = ADP + H(+) + phosphate; Xref=Rhea:RHEA:13065,
CC         ChEBI:CHEBI:15377, ChEBI:CHEBI:15378, ChEBI:CHEBI:30616,
CC         ChEBI:CHEBI:43474, ChEBI:CHEBI:456216; EC=3.6.4.13;
CC   -!- ALTERNATIVE PRODUCTS:
CC       Event=Alternative splicing; Named isoforms=2;
CC       Name=1;
CC         IsoId=Q9Y6V7-1; Sequence=Displayed;
CC       Name=2;
CC         IsoId=Q9Y6V7-2; Sequence=VSP_056367, VSP_056368, VSP_056369;
CC         Note=No experimental confirmation available.;
CC   -!- SIMILARITY: Belongs to the DEAD box helicase family. DDX49/DBP8
CC       subfamily. {ECO:0000305}.
DR   EMBL; AK223294; BAD97014.1; -; mRNA.
DR   EMBL; AC002985; AAB81544.1; -; Genomic_DNA.
DR   EMBL; CH471106; EAW84758.1; -; Genomic_DNA.
DR   EMBL; BC000979; AAH00979.2; -; mRNA.
DR   EMBL; BC002674; AAH02674.1; -; mRNA.
DR   CCDS; CCDS12390.1; -. [Q9Y6V7-1]
DR   RefSeq; NP_061943.2; NM_019070.4. [Q9Y6V7-1]
DR   SMR; Q9Y6V7; -.
DR   BioGrid; 120040; 22.
DR   IntAct; Q9Y6V7; 13.
DR   MINT; Q9Y6V7; -.
DR   STRING; 9606.ENSP00000247003; -.
DR   iPTMnet; Q9Y6V7; -.
DR   PhosphoSitePlus; Q9Y6V7; -.
DR   BioMuta; DDX49; -.
DR   DMDM; 74753527; -.
DR   EPD; Q9Y6V7; -.
DR   jPOST; Q9Y6V7; -.
DR   MassIVE; Q9Y6V7; -.
DR   PaxDb; Q9Y6V7; -.
DR   PeptideAtlas; Q9Y6V7; -.
DR   PRIDE; Q9Y6V7; -.
DR   ProteomicsDB; 79228; -.
DR   ProteomicsDB; 86799; -. [Q9Y6V7-1]
DR   DNASU; 54555; -.
DR   Ensembl; ENST00000247003; ENSP00000247003; ENSG00000105671. [Q9Y6V7-1]
DR   GeneID; 54555; -.
DR   KEGG; hsa:54555; -.
DR   UCSC; uc002nkq.3; human. [Q9Y6V7-1]
DR   CTD; 54555; -.
DR   GeneCards; DDX49; -.
DR   HGNC; HGNC:18684; DDX49.
DR   HPA; HPA041870; -.
DR   HPA; HPA048093; -.
DR   neXtProt; NX_Q9Y6V7; -.
DR   OpenTargets; ENSG00000105671; -.
DR   PharmGKB; PA134956171; -.
DR   eggNOG; KOG0330; Eukaryota.
DR   eggNOG; ENOG410XQU7; LUCA.
DR   GeneTree; ENSGT00730000111231; -.
DR   HOGENOM; HOG000268802; -.
DR   InParanoid; Q9Y6V7; -.
DR   KO; K14778; -.
DR   OMA; TEHPIDQ; -.
DR   OrthoDB; 744428at2759; -.
DR   PhylomeDB; Q9Y6V7; -.
DR   TreeFam; TF320511; -.
DR   Reactome; R-HSA-6790901; rRNA modification in the nucleus and cytosol.
DR   Reactome; R-HSA-6791226; Major pathway of rRNA processing in the nucleolus and cytosol.
DR   ChiTaRS; DDX49; human.
DR   GenomeRNAi; 54555; -.
DR   Pharos; Q9Y6V7; -.
DR   PRO; PR:Q9Y6V7; -.
DR   Proteomes; UP000005640; Chromosome 19.
DR   Bgee; ENSG00000105671; Expressed in 221 organ(s), highest expression level in placenta.
DR   ExpressionAtlas; Q9Y6V7; baseline and differential.
DR   Genevisible; Q9Y6V7; HS.
DR   GO; GO:0005654; C:nucleoplasm; TAS:Reactome.
DR   GO; GO:0005634; C:nucleus; IBA:GO_Central.
DR   GO; GO:0005524; F:ATP binding; IEA:UniProtKB-KW.
DR   GO; GO:0003723; F:RNA binding; HDA:UniProtKB.
DR   GO; GO:0003724; F:RNA helicase activity; IEA:UniProtKB-EC.
DR   GO; GO:0006364; P:rRNA processing; IBA:GO_Central.
DR   InterPro; IPR011545; DEAD/DEAH_box_helicase_dom.
DR   InterPro; IPR014001; Helicase_ATP-bd.
DR   InterPro; IPR001650; Helicase_C.
DR   InterPro; IPR027417; P-loop_NTPase.
DR   InterPro; IPR000629; RNA-helicase_DEAD-box_CS.
DR   InterPro; IPR014014; RNA_helicase_DEAD_Q_motif.
DR   Pfam; PF00270; DEAD; 1.
DR   Pfam; PF00271; Helicase_C; 1.
DR   SMART; SM00487; DEXDc; 1.
DR   SMART; SM00490; HELICc; 1.
DR   SUPFAM; SSF52540; SSF52540; 1.
DR   PROSITE; PS00039; DEAD_ATP_HELICASE; 1.
DR   PROSITE; PS51192; HELICASE_ATP_BIND_1; 1.
DR   PROSITE; PS51194; HELICASE_CTER; 1.
DR   PROSITE; PS51195; Q_MOTIF; 1.
PE   1: Evidence at protein level;
KW   Alternative splicing; ATP-binding; Complete proteome; Helicase;
KW   Hydrolase; Nucleotide-binding; Polymorphism; Reference proteome;
KW   RNA-binding.
FT   CHAIN         1    483       Probable ATP-dependent RNA helicase
FT                                DDX49.
FT                                /FTId=PRO_0000055052.
FT   DOMAIN       33    207       Helicase ATP-binding.
FT                                {ECO:0000255|PROSITE-ProRule:PRU00541}.
FT   DOMAIN      218    382       Helicase C-terminal.
FT                                {ECO:0000255|PROSITE-ProRule:PRU00542}.
FT   NP_BIND      46     53       ATP. {ECO:0000255|PROSITE-
FT                                ProRule:PRU00541}.
FT   MOTIF         2     30       Q motif.
FT   MOTIF       152    155       DEAD box.
FT   VAR_SEQ       1    107       Missing (in isoform 2).
FT                                {ECO:0000303|PubMed:15489334}.
FT                                /FTId=VSP_056367.
FT   VAR_SEQ     312    361       LDIPTVQVVINHNTPGLPKIYIHRVGRTARAGRQGQAITLV
FT                                TQYDIHLVH -> ADQPPLPPGAWTSLRYRWSSTTTPPGSP
FT                                RSTSTESAGRPVQGGRVRPSRW (in isoform 2).
FT                                {ECO:0000303|PubMed:15489334}.
FT                                /FTId=VSP_056368.
FT   VAR_SEQ     362    483       Missing (in isoform 2).
FT                                {ECO:0000303|PubMed:15489334}.
FT                                /FTId=VSP_056369.
FT   VARIANT     222    222       R -> H (in dbSNP:rs35802425).
FT                                /FTId=VAR_033858.
FT   VARIANT     296    296       S -> A (in dbSNP:rs35614860).
FT                                /FTId=VAR_033859.
FT   VARIANT     413    413       R -> W (in dbSNP:rs16995781).
FT                                /FTId=VAR_052167.
FT   CONFLICT     35     35       A -> V (in Ref. 1; BAD97014).
FT                                {ECO:0000305}.
SQ   SEQUENCE   483 AA;  54226 MW;  2B46DD6A992B2532 CRC64;
     MAGFAELGLS SWLVEQCRQL GLKQPTPVQL GCIPAILEGR DCLGCAKTGS GKTAAFVLPI
     LQKLSEDPYG IFCLVLTPTR ELAYQIAEQF RVLGKPLGLK DCIIVGGMDM VAQALELSRK
     PHVVIATPGR LADHLRSSNT FSIKKIRFLV MDEADRLLEQ GCTDFTVDLE AILAAVPARR
     QTLLFSATLT DTLRELQGLA TNQPFFWEAQ APVSTVEQLD QRYLLVPEKV KDAYLVHLIQ
     RFQDEHEDWS IIIFTNTCKT CQILCMMLRK FSFPTVALHS MMKQKERFAA LAKFKSSIYR
     ILIATDVASR GLDIPTVQVV INHNTPGLPK IYIHRVGRTA RAGRQGQAIT LVTQYDIHLV
     HAIEEQIKKK LEEFSVEEAE VLQILTQVNV VRRECEIKLE AAHFDEKKEI NKRKQLILEG
     KDPDLEAKRK AELAKIKQKN RRFKEKVEET LKRQKAGRAG HKGRPPRTPS GSHSGPVPSQ
     GLV
//
DBGET integrated database retrieval system