DDX6L_HUMAN
ID DDX6L_HUMAN Reviewed; 1706 AA.
AC Q5H9U9; Q96ND6;
DT 05-FEB-2008, integrated into UniProtKB/Swiss-Prot.
DT 05-APR-2011, sequence version 2.
DT 03-AUG-2022, entry version 129.
DE RecName: Full=Probable ATP-dependent RNA helicase DDX60-like;
DE EC=3.6.4.13;
DE AltName: Full=DEAD box protein 60-like;
GN Name=DDX60L;
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 2), AND NUCLEOTIDE SEQUENCE
RP [LARGE SCALE MRNA] OF 887-1706 (ISOFORM 1).
RC TISSUE=Testis carcinoma;
RX PubMed=17974005; DOI=10.1186/1471-2164-8-399;
RA Bechtel S., Rosenfelder H., Duda A., Schmidt C.P., Ernst U.,
RA Wellenreuther R., Mehrle A., Schuster C., Bahr A., Bloecker H., Heubner D.,
RA Hoerlein A., Michel G., Wedler H., Koehrer K., Ottenwaelder B., Poustka A.,
RA Wiemann S., Schupp I.;
RT "The full-ORF clone resource of the German cDNA consortium.";
RL BMC Genomics 8:399-399(2007).
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=15815621; DOI=10.1038/nature03466;
RA Hillier L.W., Graves T.A., Fulton R.S., Fulton L.A., Pepin K.H., Minx P.,
RA Wagner-McPherson C., Layman D., Wylie K., Sekhon M., Becker M.C.,
RA Fewell G.A., Delehaunty K.D., Miner T.L., Nash W.E., Kremitzki C., Oddy L.,
RA Du H., Sun H., Bradshaw-Cordum H., Ali J., Carter J., Cordes M., Harris A.,
RA Isak A., van Brunt A., Nguyen C., Du F., Courtney L., Kalicki J.,
RA Ozersky P., Abbott S., Armstrong J., Belter E.A., Caruso L., Cedroni M.,
RA Cotton M., Davidson T., Desai A., Elliott G., Erb T., Fronick C., Gaige T.,
RA Haakenson W., Haglund K., Holmes A., Harkins R., Kim K., Kruchowski S.S.,
RA Strong C.M., Grewal N., Goyea E., Hou S., Levy A., Martinka S., Mead K.,
RA McLellan M.D., Meyer R., Randall-Maher J., Tomlinson C.,
RA Dauphin-Kohlberg S., Kozlowicz-Reilly A., Shah N., Swearengen-Shahid S.,
RA Snider J., Strong J.T., Thompson J., Yoakum M., Leonard S., Pearman C.,
RA Trani L., Radionenko M., Waligorski J.E., Wang C., Rock S.M.,
RA Tin-Wollam A.-M., Maupin R., Latreille P., Wendl M.C., Yang S.-P., Pohl C.,
RA Wallis J.W., Spieth J., Bieri T.A., Berkowicz N., Nelson J.O., Osborne J.,
RA Ding L., Meyer R., Sabo A., Shotland Y., Sinha P., Wohldmann P.E.,
RA Cook L.L., Hickenbotham M.T., Eldred J., Williams D., Jones T.A., She X.,
RA Ciccarelli F.D., Izaurralde E., Taylor J., Schmutz J., Myers R.M.,
RA Cox D.R., Huang X., McPherson J.D., Mardis E.R., Clifton S.W., Warren W.C.,
RA Chinwalla A.T., Eddy S.R., Marra M.A., Ovcharenko I., Furey T.S.,
RA Miller W., Eichler E.E., Bork P., Suyama M., Torrents D., Waterston R.H.,
RA Wilson R.K.;
RT "Generation and annotation of the DNA sequences of human chromosomes 2 and
RT 4.";
RL Nature 434:724-731(2005).
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 419-1165 (ISOFORM 2).
RX PubMed=14702039; DOI=10.1038/ng1285;
RA Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R.,
RA Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H.,
RA Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.,
RA Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K.,
RA Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H.,
RA Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M.,
RA Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K.,
RA Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T.,
RA Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M.,
RA Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S.,
RA Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H.,
RA Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K.,
RA Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N.,
RA Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S.,
RA Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O.,
RA Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H.,
RA Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B.,
RA Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y.,
RA Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K.,
RA Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T.,
RA Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T.,
RA Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y.,
RA Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H.,
RA Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y.,
RA Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H.,
RA Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O.,
RA Isogai T., Sugano S.;
RT "Complete sequencing and characterization of 21,243 full-length human
RT cDNAs.";
RL Nat. Genet. 36:40-45(2004).
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=Q5H9U9-1; Sequence=Displayed;
CC Name=2;
CC IsoId=Q5H9U9-2; Sequence=VSP_040820, VSP_040821, VSP_040822;
CC -!- SIMILARITY: Belongs to the helicase family. {ECO:0000305}.
CC -!- SEQUENCE CAUTION:
CC Sequence=BAB70966.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305};
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DR EMBL; AL832950; -; NOT_ANNOTATED_CDS; mRNA.
DR EMBL; CR933601; CAI45925.1; -; mRNA.
DR EMBL; AC079926; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; AC093888; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; AK055595; BAB70966.1; ALT_INIT; mRNA.
DR CCDS; CCDS47161.1; -. [Q5H9U9-1]
DR RefSeq; NP_001012985.2; NM_001012967.2.
DR RefSeq; NP_001278439.1; NM_001291510.1.
DR AlphaFoldDB; Q5H9U9; -.
DR BioGRID; 124817; 20.
DR IntAct; Q5H9U9; 5.
DR STRING; 9606.ENSP00000260184; -.
DR CarbonylDB; Q5H9U9; -.
DR iPTMnet; Q5H9U9; -.
DR PhosphoSitePlus; Q5H9U9; -.
DR BioMuta; DDX60L; -.
DR DMDM; 327478505; -.
DR EPD; Q5H9U9; -.
DR jPOST; Q5H9U9; -.
DR MassIVE; Q5H9U9; -.
DR MaxQB; Q5H9U9; -.
DR PaxDb; Q5H9U9; -.
DR PeptideAtlas; Q5H9U9; -.
DR PRIDE; Q5H9U9; -.
DR ProteomicsDB; 62912; -. [Q5H9U9-1]
DR ProteomicsDB; 62913; -. [Q5H9U9-2]
DR Antibodypedia; 49338; 82 antibodies from 14 providers.
DR DNASU; 91351; -.
DR Ensembl; ENST00000505890.5; ENSP00000422202.1; ENSG00000181381.15.
DR Ensembl; ENST00000511577.5; ENSP00000422423.1; ENSG00000181381.15.
DR GeneID; 91351; -.
DR KEGG; hsa:91351; -.
DR UCSC; uc003irq.5; human. [Q5H9U9-1]
DR CTD; 91351; -.
DR DisGeNET; 91351; -.
DR GeneCards; DDX60L; -.
DR HGNC; HGNC:26429; DDX60L.
DR HPA; ENSG00000181381; Tissue enhanced (bone).
DR neXtProt; NX_Q5H9U9; -.
DR PharmGKB; PA162383445; -.
DR VEuPathDB; HostDB:ENSG00000181381; -.
DR eggNOG; KOG0949; Eukaryota.
DR eggNOG; KOG0950; Eukaryota.
DR HOGENOM; CLU_002305_0_0_1; -.
DR InParanoid; Q5H9U9; -.
DR OrthoDB; 546283at2759; -.
DR PhylomeDB; Q5H9U9; -.
DR TreeFam; TF314846; -.
DR PathwayCommons; Q5H9U9; -.
DR SignaLink; Q5H9U9; -.
DR BioGRID-ORCS; 91351; 5 hits in 1081 CRISPR screens.
DR ChiTaRS; DDX60L; human.
DR GenomeRNAi; 91351; -.
DR Pharos; Q5H9U9; Tdark.
DR PRO; PR:Q5H9U9; -.
DR Proteomes; UP000005640; Chromosome 4.
DR RNAct; Q5H9U9; protein.
DR Bgee; ENSG00000181381; Expressed in monocyte and 163 other tissues.
DR ExpressionAtlas; Q5H9U9; baseline and differential.
DR Genevisible; Q5H9U9; HS.
DR GO; GO:0005737; C:cytoplasm; 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:0003725; F:double-stranded RNA binding; IBA:GO_Central.
DR GO; GO:0003724; F:RNA helicase activity; IEA:UniProtKB-EC.
DR GO; GO:0003727; F:single-stranded RNA binding; IBA:GO_Central.
DR GO; GO:0051607; P:defense response to virus; 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 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; PS51192; HELICASE_ATP_BIND_1; 1.
DR PROSITE; PS51194; HELICASE_CTER; 1.
PE 2: Evidence at transcript level;
KW Alternative splicing; ATP-binding; Helicase; Hydrolase; Nucleotide-binding;
KW Reference proteome; RNA-binding.
FT CHAIN 1..1706
FT /note="Probable ATP-dependent RNA helicase DDX60-like"
FT /id="PRO_0000318155"
FT DOMAIN 752..919
FT /note="Helicase ATP-binding"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00541"
FT DOMAIN 1205..1354
FT /note="Helicase C-terminal"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00542"
FT REGION 545..580
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT MOTIF 869..872
FT /note="DEAH box"
FT COMPBIAS 545..564
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT BINDING 765..772
FT /ligand="ATP"
FT /ligand_id="ChEBI:CHEBI:30616"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00541"
FT VAR_SEQ 1164
FT /note="I -> IS (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:14702039,
FT ECO:0000303|PubMed:17974005"
FT /id="VSP_040820"
FT VAR_SEQ 1306..1307
FT /note="MS -> IM (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:14702039,
FT ECO:0000303|PubMed:17974005"
FT /id="VSP_040821"
FT VAR_SEQ 1308..1706
FT /note="Missing (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:14702039,
FT ECO:0000303|PubMed:17974005"
FT /id="VSP_040822"
FT VARIANT 336
FT /note="C -> Y (in dbSNP:rs12507582)"
FT /id="VAR_055897"
FT VARIANT 355
FT /note="N -> K (in dbSNP:rs10029536)"
FT /id="VAR_055898"
FT VARIANT 409
FT /note="V -> L (in dbSNP:rs13151700)"
FT /id="VAR_055899"
FT VARIANT 583
FT /note="A -> T (in dbSNP:rs2319850)"
FT /id="VAR_055900"
FT VARIANT 1080
FT /note="S -> C (in dbSNP:rs17540213)"
FT /id="VAR_055901"
FT CONFLICT 134
FT /note="F -> L (in Ref. 1; CAI45925)"
FT /evidence="ECO:0000305"
FT CONFLICT 822
FT /note="L -> P (in Ref. 3; BAB70966)"
FT /evidence="ECO:0000305"
FT CONFLICT 831
FT /note="C -> R (in Ref. 1; CAI45925 and 3; BAB70966)"
FT /evidence="ECO:0000305"
FT CONFLICT 959
FT /note="Y -> C (in Ref. 1; AL832950/CAI45925 and 3;
FT BAB70966)"
FT /evidence="ECO:0000305"
FT CONFLICT 1222
FT /note="E -> D (in Ref. 1; AL832950)"
FT /evidence="ECO:0000305"
FT CONFLICT 1488
FT /note="N -> D (in Ref. 1; AL832950)"
FT /evidence="ECO:0000305"
FT CONFLICT 1646
FT /note="M -> V (in Ref. 1; AL832950)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 1706 AA; 197674 MW; F753F97440E9B69C CRC64;
MGSKDHAVFF REMTQLILNE MPKAGYSSIL NDFVESNFFV IDGDSLLVTC LGVKSFKWGQ
NLHFFYLVEC YLVDLLSNGG QFTIVFFKDA EYAYFDFPEL LSLRTALILH LQHNTNIDVQ
TEFSGCLSQD WKLFLEQHYP YFLIVSEEGL SDLQTYLFNF LIIHSWGMKV NVVLSSGHES
DTLRFYAYTM ESTDRNQTFS KENETVIQSA YKSLIQHLEE IRVLVLATHF EHLKWNDMME
EAYQTLFLLQ HLWSEGSDIQ RVLCVTSCSL SLRMYHRVLV HSNCLSLQEV EDFCRLRCLC
VAFQLHLPLS QRACSRVITC SWIRNSDSFL KMNKWCEYFI LSNLNVFGCW NLNLNHVSDL
YDEQLLKNIA FYYEFESTQE PHLNLGDSIR RDYEDLWNVV SHLVKEFNVG KSFPLRTTRR
HFLRQEKSVI QEISLEKMPS VGFIPMTSAV IDEFVGDMMK DLPILKSDDP VVPSLFKQKT
SDELLHWHAQ RLLSDDYDRI KCHVDEQSRD PHVLDFLKKI QDYQQFYGKS LESISTKVIV
TQTTRPKEDS SGASGEILQN TKPHQITKKS KKKSFLKEDQ NKAQQNDDLL FSIEEEMKNN
LHSGIRKLED YLTSCASNSV KFGVEMLGLI ACFKAWKKHC RGEGKISKDL SIAVQMMKRI
HSLLERYPEI LEAEHHQYIA KCLKYLGFND LANSLDPTLI GDDKNKKKYS IDIGPARFQL
QYMGHYLIRD ERKDRDPRVQ DFIPNAWQQE LLDVVDKNES AVIVAPTSSG KTYASYYCME
KVLRESDVGV VVYVAPAKSL VGQVAATVEN RFTKTLPAGR TLCGAFTRDY CHNVLNCQVL
ITVPECFEIL LLAPHRQKWV ERIRYVIFDE VHYLGREVGA KFWELLLVII RCPFLVLSAT
INNPNLLTKW LQSVKQYWKQ ADKIMEEKCI SEKQADKCLN FLQDHSYKNQ SYEVRLVLYG
ERYNDLEKHI CSVKHDDVYF DHFHPCAALT TDIIEKYGFP PDLTLTPQES IQLYDTMAQV
WETWPRAQEL CPEEFILFKN KIVIKKLDAR KYEENLKAEL TNWIKNGQVK KVKRVLKNLS
PDSLSSSKDM VKMFPLLVEK LRQMDKLPAI FFLFKNDDVG KRAGSVCTFL EKTETKSHPH
TECHSYVFAI DEVLEKVRKT QKRITKKNPK KAEKLERKKV YRAEYINFLE NLKILEISED
CTYADVKALH TEITRNKDST LERVLPRVRF TRHGKELKAL AQRGIGYHHS SMYFKEKEFV
EILFVKGLIR VVTATETLAL GIHMPCKSVV FAQDSVYLDA LNYRQMSGRA GRRGQDLLGN
VYFFDIPLPK IKRLLASSVP ELRGQFPLSI TLVLRLMLLA SKGDDPEDAK AKVLSVLKHS
LLSFKRRRAM ETLKLYFLFS LQLLIKEDYL NKKGNPKKFA GLASYLHGHE PSNLVFVNFL
KRGLFHNLCK PAWKGSQQFS QDVMEKLVLV LANLFGRKYI PAKFQNANLS FSQSKVILAE
LPEDFKAALY EYNLAVMKDF ASFLLIASKS VNMKKEHQLP LSRIKFTGKE CEDSQLVSHL
MSCKKGRVAI SPFVCLSGNT DNDLLRPETI NQVILRTVGV SGTQAPLLWP WKLDNRGRRM
PLNAYVLNFY KHNCLTRLDQ KNGMRMGQLL KCLKDFAFNI QAISDSLSEL CENKRDNVVL
AFKQLSQTFY EKLQEMQIQM SQNHLE