GenomeNet

Database: UniProt
Entry: Q5H9U9
LinkDB: Q5H9U9
Original site: Q5H9U9 
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   16-OCT-2019, entry version 116.
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;
OC   Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
OC   Catarrhini; Hominidae; Homo.
OX   NCBI_TaxID=9606;
RN   [1]
RP   NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2), AND NUCLEOTIDE
RP   SEQUENCE [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.,
RA   Heubner D., Hoerlein A., Michel G., Wedler H., Koehrer K.,
RA   Ottenwaelder B., Poustka A., 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.,
RA   Minx P., Wagner-McPherson C., Layman D., Wylie K., Sekhon M.,
RA   Becker M.C., Fewell G.A., Delehaunty K.D., Miner T.L., Nash W.E.,
RA   Kremitzki C., Oddy L., Du H., Sun H., Bradshaw-Cordum H., Ali J.,
RA   Carter J., Cordes M., Harris A., Isak A., van Brunt A., Nguyen C.,
RA   Du F., Courtney L., Kalicki J., Ozersky P., Abbott S., Armstrong J.,
RA   Belter E.A., Caruso L., Cedroni M., Cotton M., Davidson T., Desai A.,
RA   Elliott G., Erb T., Fronick C., Gaige T., Haakenson W., Haglund K.,
RA   Holmes A., Harkins R., Kim K., Kruchowski S.S., Strong C.M.,
RA   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.,
RA   Swearengen-Shahid S., Snider J., Strong J.T., Thompson J., Yoakum M.,
RA   Leonard S., Pearman C., Trani L., Radionenko M., Waligorski J.E.,
RA   Wang C., Rock S.M., Tin-Wollam A.-M., Maupin R., Latreille P.,
RA   Wendl M.C., Yang S.-P., Pohl C., Wallis J.W., Spieth J., Bieri T.A.,
RA   Berkowicz N., Nelson J.O., Osborne J., Ding L., Meyer R., Sabo A.,
RA   Shotland Y., Sinha P., Wohldmann P.E., Cook L.L., Hickenbotham M.T.,
RA   Eldred J., Williams D., Jones T.A., She X., Ciccarelli F.D.,
RA   Izaurralde E., Taylor J., Schmutz J., Myers R.M., Cox D.R., Huang X.,
RA   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.,
RA   Waterston R.H., Wilson R.K.;
RT   "Generation and annotation of the DNA sequences of human chromosomes 2
RT   and 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.,
RA   Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M.,
RA   Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y.,
RA   Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M.,
RA   Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K.,
RA   Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S.,
RA   Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J.,
RA   Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y.,
RA   Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N.,
RA   Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S.,
RA   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.,
RA   Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T.,
RA   Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y.,
RA   Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S.,
RA   Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T.,
RA   Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M.,
RA   Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T.,
RA   Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K.,
RA   Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R.,
RA   Nakai K., Yada T., Nakamura Y., Ohara O., 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};
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   SMR; Q5H9U9; -.
DR   BioGrid; 124817; 7.
DR   IntAct; Q5H9U9; 4.
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   Ensembl; ENST00000260184; ENSP00000260184; ENSG00000181381.
DR   Ensembl; ENST00000505890; ENSP00000422202; ENSG00000181381.
DR   Ensembl; ENST00000511577; ENSP00000422423; ENSG00000181381.
DR   GeneID; 91351; -.
DR   KEGG; hsa:91351; -.
DR   UCSC; uc003irq.5; human. [Q5H9U9-1]
DR   CTD; 91351; -.
DR   GeneCards; DDX60L; -.
DR   HGNC; HGNC:26429; DDX60L.
DR   HPA; HPA043211; -.
DR   HPA; HPA055501; -.
DR   neXtProt; NX_Q5H9U9; -.
DR   PharmGKB; PA162383445; -.
DR   eggNOG; KOG0948; Eukaryota.
DR   eggNOG; KOG0949; Eukaryota.
DR   eggNOG; COG4581; LUCA.
DR   HOGENOM; HOG000169263; -.
DR   InParanoid; Q5H9U9; -.
DR   KO; K20103; -.
DR   OrthoDB; 1572593at2759; -.
DR   PhylomeDB; Q5H9U9; -.
DR   TreeFam; TF314846; -.
DR   ChiTaRS; DDX60L; human.
DR   GenomeRNAi; 91351; -.
DR   Pharos; Q5H9U9; -.
DR   PRO; PR:Q5H9U9; -.
DR   Proteomes; UP000005640; Chromosome 4.
DR   Bgee; ENSG00000181381; Expressed in 185 organ(s), highest expression level in blood.
DR   ExpressionAtlas; Q5H9U9; baseline and differential.
DR   Genevisible; Q5H9U9; HS.
DR   GO; GO:0005524; F:ATP binding; IEA:UniProtKB-KW.
DR   GO; GO:0003723; F:RNA binding; IEA:UniProtKB-KW.
DR   GO; GO:0003724; F:RNA helicase activity; IEA:UniProtKB-EC.
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; Complete proteome; Helicase;
KW   Hydrolase; Nucleotide-binding; Polymorphism; Reference proteome;
KW   RNA-binding.
FT   CHAIN         1   1706       Probable ATP-dependent RNA helicase
FT                                DDX60-like.
FT                                /FTId=PRO_0000318155.
FT   DOMAIN      752    919       Helicase ATP-binding.
FT                                {ECO:0000255|PROSITE-ProRule:PRU00541}.
FT   DOMAIN     1205   1354       Helicase C-terminal.
FT                                {ECO:0000255|PROSITE-ProRule:PRU00542}.
FT   NP_BIND     765    772       ATP. {ECO:0000255|PROSITE-
FT                                ProRule:PRU00541}.
FT   MOTIF       869    872       DEAH box.
FT   VAR_SEQ    1164   1164       I -> IS (in isoform 2).
FT                                {ECO:0000303|PubMed:14702039,
FT                                ECO:0000303|PubMed:17974005}.
FT                                /FTId=VSP_040820.
FT   VAR_SEQ    1306   1307       MS -> IM (in isoform 2).
FT                                {ECO:0000303|PubMed:14702039,
FT                                ECO:0000303|PubMed:17974005}.
FT                                /FTId=VSP_040821.
FT   VAR_SEQ    1308   1706       Missing (in isoform 2).
FT                                {ECO:0000303|PubMed:14702039,
FT                                ECO:0000303|PubMed:17974005}.
FT                                /FTId=VSP_040822.
FT   VARIANT     336    336       C -> Y (in dbSNP:rs12507582).
FT                                /FTId=VAR_055897.
FT   VARIANT     355    355       N -> K (in dbSNP:rs10029536).
FT                                /FTId=VAR_055898.
FT   VARIANT     409    409       V -> L (in dbSNP:rs13151700).
FT                                /FTId=VAR_055899.
FT   VARIANT     583    583       A -> T (in dbSNP:rs2319850).
FT                                /FTId=VAR_055900.
FT   VARIANT    1080   1080       S -> C (in dbSNP:rs17540213).
FT                                /FTId=VAR_055901.
FT   CONFLICT    134    134       F -> L (in Ref. 1; CAI45925).
FT                                {ECO:0000305}.
FT   CONFLICT    822    822       L -> P (in Ref. 3; BAB70966).
FT                                {ECO:0000305}.
FT   CONFLICT    831    831       C -> R (in Ref. 1; CAI45925 and 3;
FT                                BAB70966). {ECO:0000305}.
FT   CONFLICT    959    959       Y -> C (in Ref. 1; AL832950/CAI45925 and
FT                                3; BAB70966). {ECO:0000305}.
FT   CONFLICT   1222   1222       E -> D (in Ref. 1; AL832950).
FT                                {ECO:0000305}.
FT   CONFLICT   1488   1488       N -> D (in Ref. 1; AL832950).
FT                                {ECO:0000305}.
FT   CONFLICT   1646   1646       M -> V (in Ref. 1; AL832950).
FT                                {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
//
DBGET integrated database retrieval system