DDX49_HUMAN
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 03-AUG-2022, entry version 172.
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; Mammalia;
OC Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae;
OC 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., Lamerdin J.E.,
RA Hellsten U., Goodstein D., Couronne O., Tran-Gyamfi M., Aerts A.,
RA Altherr M., Ashworth L., Bajorek E., Black S., Branscomb E., Caenepeel S.,
RA Carrano A.V., Caoile C., Chan Y.M., Christensen M., Cleland C.A.,
RA Copeland A., Dalin E., Dehal P., Denys M., Detter J.C., Escobar J.,
RA Flowers D., Fotopulos D., Garcia C., Georgescu A.M., Glavina T., Gomez M.,
RA Gonzales E., Groza M., Hammon N., Hawkins T., Haydu L., Ho I., Huang W.,
RA Israni S., Jett J., Kadner K., Kimball H., Kobayashi A., Larionov V.,
RA Leem S.-H., Lopez F., Lou Y., Lowry S., Malfatti S., Martinez D.,
RA McCready P.M., Medina C., Morgan J., Nelson K., Nolan M., Ovcharenko I.,
RA Pitluck S., Pollard M., Popkie A.P., Predki P., Quan G., Ramirez L.,
RA Rash S., Retterer J., Rodriguez A., Rogers S., Salamov A., Salazar A.,
RA She X., Smith D., Slezak T., Solovyev V., Thayer N., Tice H., Tsai M.,
RA Ustaszewska A., Vo N., Wagner M., Wheeler J., Wu K., Xie G., Yang J.,
RA Dubchak I., 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., Mobarry C.M.,
RA Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J.,
RA Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S.,
RA Turner R., Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H.,
RA Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K.,
RA Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D.,
RA Hunkapiller M.W., Myers E.W., 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 project:
RT 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., Buerckstuemmer T.,
RA 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 -!- INTERACTION:
CC Q9Y6V7; O75459: PAGE1; NbExp=3; IntAct=EBI-719274, EBI-2559100;
CC Q9Y6V7; Q16623: STX1A; NbExp=3; IntAct=EBI-719274, EBI-712466;
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 -!- SIMILARITY: Belongs to the DEAD box helicase family. DDX49/DBP8
CC subfamily. {ECO:0000305}.
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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 AlphaFoldDB; Q9Y6V7; -.
DR SMR; Q9Y6V7; -.
DR BioGRID; 120040; 61.
DR IntAct; Q9Y6V7; 15.
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 MaxQB; Q9Y6V7; -.
DR PaxDb; Q9Y6V7; -.
DR PeptideAtlas; Q9Y6V7; -.
DR PRIDE; Q9Y6V7; -.
DR ProteomicsDB; 79228; -.
DR ProteomicsDB; 86799; -. [Q9Y6V7-1]
DR Antibodypedia; 15208; 138 antibodies from 23 providers.
DR DNASU; 54555; -.
DR Ensembl; ENST00000247003.9; ENSP00000247003.3; ENSG00000105671.12. [Q9Y6V7-1]
DR GeneID; 54555; -.
DR KEGG; hsa:54555; -.
DR MANE-Select; ENST00000247003.9; ENSP00000247003.3; NM_019070.5; NP_061943.2.
DR UCSC; uc002nkq.3; human. [Q9Y6V7-1]
DR CTD; 54555; -.
DR DisGeNET; 54555; -.
DR GeneCards; DDX49; -.
DR HGNC; HGNC:18684; DDX49.
DR HPA; ENSG00000105671; Low tissue specificity.
DR neXtProt; NX_Q9Y6V7; -.
DR OpenTargets; ENSG00000105671; -.
DR PharmGKB; PA134956171; -.
DR VEuPathDB; HostDB:ENSG00000105671; -.
DR eggNOG; KOG0333; Eukaryota.
DR eggNOG; KOG0340; Eukaryota.
DR GeneTree; ENSGT00730000111231; -.
DR HOGENOM; CLU_003041_1_1_1; -.
DR InParanoid; Q9Y6V7; -.
DR OMA; EIKQESM; -.
DR OrthoDB; 744428at2759; -.
DR PhylomeDB; Q9Y6V7; -.
DR TreeFam; TF320511; -.
DR PathwayCommons; Q9Y6V7; -.
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 SignaLink; Q9Y6V7; -.
DR BioGRID-ORCS; 54555; 733 hits in 1080 CRISPR screens.
DR ChiTaRS; DDX49; human.
DR GenomeRNAi; 54555; -.
DR Pharos; Q9Y6V7; Tbio.
DR PRO; PR:Q9Y6V7; -.
DR Proteomes; UP000005640; Chromosome 19.
DR RNAct; Q9Y6V7; protein.
DR Bgee; ENSG00000105671; Expressed in cortical plate and 192 other tissues.
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:0016887; F:ATP hydrolysis activity; IEA:RHEA.
DR GO; GO:0003723; F:RNA binding; HDA:UniProtKB.
DR GO; GO:0003724; F:RNA helicase activity; IEA:UniProtKB-EC.
DR GO; GO:0030307; P:positive regulation of cell growth; IMP:CACAO.
DR GO; GO:0044357; P:regulation of rRNA stability; IMP:CACAO.
DR GO; GO:0006364; P:rRNA processing; IBA:GO_Central.
DR Gene3D; 3.40.50.300; -; 2.
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; Helicase; Hydrolase; Nucleotide-binding;
KW Reference proteome; RNA-binding.
FT CHAIN 1..483
FT /note="Probable ATP-dependent RNA helicase DDX49"
FT /id="PRO_0000055052"
FT DOMAIN 33..207
FT /note="Helicase ATP-binding"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00541"
FT DOMAIN 218..382
FT /note="Helicase C-terminal"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00542"
FT REGION 444..483
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT MOTIF 2..30
FT /note="Q motif"
FT MOTIF 152..155
FT /note="DEAD box"
FT BINDING 46..53
FT /ligand="ATP"
FT /ligand_id="ChEBI:CHEBI:30616"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00541"
FT VAR_SEQ 1..107
FT /note="Missing (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:15489334"
FT /id="VSP_056367"
FT VAR_SEQ 312..361
FT /note="LDIPTVQVVINHNTPGLPKIYIHRVGRTARAGRQGQAITLVTQYDIHLVH
FT -> ADQPPLPPGAWTSLRYRWSSTTTPPGSPRSTSTESAGRPVQGGRVRPSRW (in
FT isoform 2)"
FT /evidence="ECO:0000303|PubMed:15489334"
FT /id="VSP_056368"
FT VAR_SEQ 362..483
FT /note="Missing (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:15489334"
FT /id="VSP_056369"
FT VARIANT 222
FT /note="R -> H (in dbSNP:rs35802425)"
FT /id="VAR_033858"
FT VARIANT 296
FT /note="S -> A (in dbSNP:rs35614860)"
FT /id="VAR_033859"
FT VARIANT 413
FT /note="R -> W (in dbSNP:rs16995781)"
FT /id="VAR_052167"
FT CONFLICT 35
FT /note="A -> V (in Ref. 1; BAD97014)"
FT /evidence="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
