DMXL1_HUMAN
ID DMXL1_HUMAN Reviewed; 3027 AA.
AC Q9Y485;
DT 07-MAR-2006, integrated into UniProtKB/Swiss-Prot.
DT 18-MAY-2010, sequence version 3.
DT 03-AUG-2022, entry version 163.
DE RecName: Full=DmX-like protein 1;
DE Short=X-like 1 protein;
GN Name=DMXL1; Synonyms=XL1;
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 [MRNA], TISSUE SPECIFICITY, AND DEVELOPMENTAL STAGE.
RC TISSUE=Placenta;
RX PubMed=10708522; DOI=10.1006/geno.1999.6050;
RA Kraemer C., Enklaar T., Zabel B., Schmidt E.R.;
RT "Mapping and structure of DMXL1, a human homologue of the DmX gene from
RT Drosophila melanogaster coding for a WD repeat protein.";
RL Genomics 64:97-101(2000).
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=15372022; DOI=10.1038/nature02919;
RA Schmutz J., Martin J., Terry A., Couronne O., Grimwood J., Lowry S.,
RA Gordon L.A., Scott D., Xie G., Huang W., Hellsten U., Tran-Gyamfi M.,
RA She X., Prabhakar S., Aerts A., Altherr M., Bajorek E., Black S.,
RA Branscomb E., Caoile C., Challacombe J.F., Chan Y.M., Denys M.,
RA Detter J.C., Escobar J., Flowers D., Fotopulos D., Glavina T., Gomez M.,
RA Gonzales E., Goodstein D., Grigoriev I., Groza M., Hammon N., Hawkins T.,
RA Haydu L., Israni S., Jett J., Kadner K., Kimball H., Kobayashi A.,
RA Lopez F., Lou Y., Martinez D., Medina C., Morgan J., Nandkeshwar R.,
RA Noonan J.P., Pitluck S., Pollard M., Predki P., Priest J., Ramirez L.,
RA Retterer J., Rodriguez A., Rogers S., Salamov A., Salazar A., Thayer N.,
RA Tice H., Tsai M., Ustaszewska A., Vo N., Wheeler J., Wu K., Yang J.,
RA Dickson M., Cheng J.-F., Eichler E.E., Olsen A., Pennacchio L.A.,
RA Rokhsar D.S., Richardson P., Lucas S.M., Myers R.M., Rubin E.M.;
RT "The DNA sequence and comparative analysis of human chromosome 5.";
RL Nature 431:268-274(2004).
RN [3]
RP PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-924, AND IDENTIFICATION BY
RP MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
RC TISSUE=Cervix carcinoma;
RX PubMed=18669648; DOI=10.1073/pnas.0805139105;
RA Dephoure N., Zhou C., Villen J., Beausoleil S.A., Bakalarski C.E.,
RA Elledge S.J., Gygi S.P.;
RT "A quantitative atlas of mitotic phosphorylation.";
RL Proc. Natl. Acad. Sci. U.S.A. 105:10762-10767(2008).
RN [4]
RP IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
RX PubMed=19413330; DOI=10.1021/ac9004309;
RA Gauci S., Helbig A.O., Slijper M., Krijgsveld J., Heck A.J., Mohammed S.;
RT "Lys-N and trypsin cover complementary parts of the phosphoproteome in a
RT refined SCX-based approach.";
RL Anal. Chem. 81:4493-4501(2009).
RN [5]
RP PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-1970, AND IDENTIFICATION BY
RP MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
RC TISSUE=Leukemic T-cell;
RX PubMed=19690332; DOI=10.1126/scisignal.2000007;
RA Mayya V., Lundgren D.H., Hwang S.-I., Rezaul K., Wu L., Eng J.K.,
RA Rodionov V., Han D.K.;
RT "Quantitative phosphoproteomic analysis of T cell receptor signaling
RT reveals system-wide modulation of protein-protein interactions.";
RL Sci. Signal. 2:RA46-RA46(2009).
RN [6]
RP PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-436 AND SER-1970, AND
RP IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
RC TISSUE=Cervix carcinoma;
RX PubMed=20068231; DOI=10.1126/scisignal.2000475;
RA Olsen J.V., Vermeulen M., Santamaria A., Kumar C., Miller M.L.,
RA Jensen L.J., Gnad F., Cox J., Jensen T.S., Nigg E.A., Brunak S., Mann M.;
RT "Quantitative phosphoproteomics reveals widespread full phosphorylation
RT site occupancy during mitosis.";
RL Sci. Signal. 3:RA3-RA3(2010).
RN [7]
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).
RN [8]
RP PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-324; SER-436 AND SER-1970,
RP AND IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
RX PubMed=21406692; DOI=10.1126/scisignal.2001570;
RA Rigbolt K.T., Prokhorova T.A., Akimov V., Henningsen J., Johansen P.T.,
RA Kratchmarova I., Kassem M., Mann M., Olsen J.V., Blagoev B.;
RT "System-wide temporal characterization of the proteome and phosphoproteome
RT of human embryonic stem cell differentiation.";
RL Sci. Signal. 4:RS3-RS3(2011).
RN [9]
RP PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-436; SER-918; SER-924;
RP SER-1830; SER-1896 AND SER-1908, AND IDENTIFICATION BY MASS SPECTROMETRY
RP [LARGE SCALE ANALYSIS].
RC TISSUE=Cervix carcinoma, and Erythroleukemia;
RX PubMed=23186163; DOI=10.1021/pr300630k;
RA Zhou H., Di Palma S., Preisinger C., Peng M., Polat A.N., Heck A.J.,
RA Mohammed S.;
RT "Toward a comprehensive characterization of a human cancer cell
RT phosphoproteome.";
RL J. Proteome Res. 12:260-271(2013).
RN [10]
RP PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-1970, AND IDENTIFICATION BY
RP MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
RC TISSUE=Liver;
RX PubMed=24275569; DOI=10.1016/j.jprot.2013.11.014;
RA Bian Y., Song C., Cheng K., Dong M., Wang F., Huang J., Sun D., Wang L.,
RA Ye M., Zou H.;
RT "An enzyme assisted RP-RPLC approach for in-depth analysis of human liver
RT phosphoproteome.";
RL J. Proteomics 96:253-262(2014).
CC -!- TISSUE SPECIFICITY: Expressed in bone, breast, eye, foreskin, heart,
CC parathyroid, small intestine, testis, tonsils, placenta and uterus.
CC {ECO:0000269|PubMed:10708522}.
CC -!- DEVELOPMENTAL STAGE: Expressed in whole embryo.
CC {ECO:0000269|PubMed:10708522}.
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DR EMBL; AJ005821; CAA06718.2; -; mRNA.
DR EMBL; AC027320; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; AC118465; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR CCDS; CCDS4125.1; -.
DR RefSeq; NP_001277250.1; NM_001290321.2.
DR RefSeq; NP_001277251.1; NM_001290322.2.
DR RefSeq; NP_005500.4; NM_005509.5.
DR RefSeq; XP_016864631.1; XM_017009142.1.
DR SMR; Q9Y485; -.
DR BioGRID; 108023; 42.
DR IntAct; Q9Y485; 10.
DR STRING; 9606.ENSP00000439479; -.
DR CarbonylDB; Q9Y485; -.
DR GlyGen; Q9Y485; 1 site, 2 O-linked glycans (1 site).
DR iPTMnet; Q9Y485; -.
DR PhosphoSitePlus; Q9Y485; -.
DR BioMuta; DMXL1; -.
DR DMDM; 296439372; -.
DR EPD; Q9Y485; -.
DR jPOST; Q9Y485; -.
DR MassIVE; Q9Y485; -.
DR MaxQB; Q9Y485; -.
DR PaxDb; Q9Y485; -.
DR PeptideAtlas; Q9Y485; -.
DR PRIDE; Q9Y485; -.
DR ProteomicsDB; 86129; -.
DR Antibodypedia; 49471; 26 antibodies from 13 providers.
DR DNASU; 1657; -.
DR Ensembl; ENST00000311085.8; ENSP00000309690.8; ENSG00000172869.15.
DR GeneID; 1657; -.
DR KEGG; hsa:1657; -.
DR UCSC; uc003ksd.3; human.
DR CTD; 1657; -.
DR DisGeNET; 1657; -.
DR GeneCards; DMXL1; -.
DR HGNC; HGNC:2937; DMXL1.
DR HPA; ENSG00000172869; Low tissue specificity.
DR MIM; 605671; gene.
DR neXtProt; NX_Q9Y485; -.
DR OpenTargets; ENSG00000172869; -.
DR PharmGKB; PA27391; -.
DR VEuPathDB; HostDB:ENSG00000172869; -.
DR eggNOG; KOG1064; Eukaryota.
DR GeneTree; ENSGT00390000000096; -.
DR HOGENOM; CLU_000267_0_0_1; -.
DR InParanoid; Q9Y485; -.
DR OrthoDB; 127808at2759; -.
DR PhylomeDB; Q9Y485; -.
DR TreeFam; TF312896; -.
DR PathwayCommons; Q9Y485; -.
DR SignaLink; Q9Y485; -.
DR BioGRID-ORCS; 1657; 29 hits in 1076 CRISPR screens.
DR ChiTaRS; DMXL1; human.
DR GenomeRNAi; 1657; -.
DR Pharos; Q9Y485; Tdark.
DR PRO; PR:Q9Y485; -.
DR Proteomes; UP000005640; Chromosome 5.
DR RNAct; Q9Y485; protein.
DR Bgee; ENSG00000172869; Expressed in choroid plexus epithelium and 203 other tissues.
DR ExpressionAtlas; Q9Y485; baseline and differential.
DR Genevisible; Q9Y485; HS.
DR GO; GO:0043291; C:RAVE complex; IBA:GO_Central.
DR GO; GO:0007035; P:vacuolar acidification; IBA:GO_Central.
DR Gene3D; 2.130.10.10; -; 3.
DR InterPro; IPR022033; Rav1p_C.
DR InterPro; IPR015943; WD40/YVTN_repeat-like_dom_sf.
DR InterPro; IPR001680; WD40_repeat.
DR InterPro; IPR036322; WD40_repeat_dom_sf.
DR Pfam; PF12234; Rav1p_C; 2.
DR Pfam; PF00400; WD40; 2.
DR SMART; SM00320; WD40; 10.
DR SUPFAM; SSF50978; SSF50978; 2.
DR PROSITE; PS00678; WD_REPEATS_1; 1.
DR PROSITE; PS50082; WD_REPEATS_2; 1.
DR PROSITE; PS50294; WD_REPEATS_REGION; 1.
PE 1: Evidence at protein level;
KW Phosphoprotein; Reference proteome; Repeat; WD repeat.
FT CHAIN 1..3027
FT /note="DmX-like protein 1"
FT /id="PRO_0000223322"
FT REPEAT 108..145
FT /note="WD 1"
FT REPEAT 166..206
FT /note="WD 2"
FT REPEAT 229..277
FT /note="WD 3"
FT REPEAT 476..516
FT /note="WD 4"
FT REPEAT 580..621
FT /note="WD 5"
FT REPEAT 628..665
FT /note="WD 6"
FT REPEAT 848..895
FT /note="WD 7"
FT REPEAT 968..1010
FT /note="WD 8"
FT REPEAT 1134..1175
FT /note="WD 9"
FT REPEAT 1211..1251
FT /note="WD 10"
FT REPEAT 2742..2783
FT /note="WD 11"
FT REPEAT 2785..2824
FT /note="WD 12"
FT REPEAT 2836..2878
FT /note="WD 12"
FT REPEAT 2884..2923
FT /note="WD 14"
FT REPEAT 2926..2965
FT /note="WD 15"
FT REPEAT 2978..3016
FT /note="WD 16"
FT REGION 420..450
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 563..584
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 2367..2412
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 2446..2468
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 2454..2468
FT /note="Acidic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT MOD_RES 324
FT /note="Phosphoserine"
FT /evidence="ECO:0007744|PubMed:21406692"
FT MOD_RES 422
FT /note="Phosphoserine"
FT /evidence="ECO:0000250|UniProtKB:Q6PNC0"
FT MOD_RES 425
FT /note="Phosphoserine"
FT /evidence="ECO:0000250|UniProtKB:Q6PNC0"
FT MOD_RES 436
FT /note="Phosphoserine"
FT /evidence="ECO:0007744|PubMed:20068231,
FT ECO:0007744|PubMed:21406692, ECO:0007744|PubMed:23186163"
FT MOD_RES 574
FT /note="Phosphoserine"
FT /evidence="ECO:0000250|UniProtKB:Q6PNC0"
FT MOD_RES 918
FT /note="Phosphoserine"
FT /evidence="ECO:0007744|PubMed:23186163"
FT MOD_RES 924
FT /note="Phosphoserine"
FT /evidence="ECO:0007744|PubMed:18669648,
FT ECO:0007744|PubMed:23186163"
FT MOD_RES 1830
FT /note="Phosphoserine"
FT /evidence="ECO:0007744|PubMed:23186163"
FT MOD_RES 1896
FT /note="Phosphoserine"
FT /evidence="ECO:0007744|PubMed:23186163"
FT MOD_RES 1908
FT /note="Phosphoserine"
FT /evidence="ECO:0007744|PubMed:23186163"
FT MOD_RES 1970
FT /note="Phosphoserine"
FT /evidence="ECO:0007744|PubMed:19690332,
FT ECO:0007744|PubMed:20068231, ECO:0007744|PubMed:21406692,
FT ECO:0007744|PubMed:24275569"
FT VARIANT 221
FT /note="I -> M (in dbSNP:rs7700801)"
FT /id="VAR_057589"
FT VARIANT 851
FT /note="S -> N (in dbSNP:rs4895362)"
FT /id="VAR_057590"
FT VARIANT 2067
FT /note="V -> M (in dbSNP:rs9790916)"
FT /id="VAR_057591"
FT VARIANT 2107
FT /note="T -> S (in dbSNP:rs9791092)"
FT /id="VAR_057592"
FT CONFLICT 2173
FT /note="P -> L (in Ref. 1; CAA06718)"
FT /evidence="ECO:0000305"
FT CONFLICT 2453
FT /note="E -> Z (in Ref. 1; CAA06718)"
FT /evidence="ECO:0000305"
FT CONFLICT 2876
FT /note="N -> D (in Ref. 1; CAA06718)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 3027 AA; 337839 MW; 62E38BEC4AA71D29 CRC64;
MNLHQVLTGA VNPGDHCFSV GSIGDQRFTA YASGCDIVIL GSDFERLQII PGAKHGNIQV
GCVDCSMQQG KIAASYGNVI SIFEPVNLPK QKKNLELYSQ WQKSGQFFLE SIAHNITWDP
TGSRLLTGSS YLQLWSNTNL EKPTEDENLN KTDLNFGDWK CIWHCKTASQ VHLMKFSPDG
EFFATAGKDD CLLKVWYNVE NWRTAVTSPD GSSEKQSQGE IDFSFVYLAH PRAVNGFSWR
KTSKYMPRAS VCNVLLTCCK DNVCRLWVET FLPNDCLLYG GDCSHWTESI NLTNNFKRNA
SSKERVQNAL EVNLRHFRRG RRRSLALVAH TGYLPHQQDP HHVHRNTPLH ANALCHFHIA
ASINPATDIP LLPSITSLSL NENEEKTGPF VVHWLNNKEL HFTLSMEVFL QQLRKSFEQP
SSEASVEDSN QADVKSDEET DDGVDDLKIN PEKKELGCDK MVPNSSFTSL SSAAIDHQIE
VLLSEWSKNA DMLFSIHPMD GSLLVWHVDW LDEYQPGMFR QVQVSFVSRI PVAFPTGDAN
SLCKSIMMYA CTKNVDLAIQ QGKQKPSGLT RSTSMLISSG HNKSSNSLKL SIFTPNVMMI
SKHADGSLNQ WLVSFAEESA FSTVLSISHK SRYCGHRFHL NDLACHSVLP LLLTTSHHNA
LRTPDVDNPE QPFDALNIEE CSLTQQNKST VDVAFQDPSA VYSELILWRV DPVGPLSFSG
GVSELARINS LHVSAFSNVA WLPTLIPSYC LGAYCNSPSA CFVASDGQYL RLYEAVIDAK
KLLSELSNPE ISKYVGEVFN IVSQQSTARP GCIIALDPIT KLHGRKTQLL HVFEEDFILN
NLEKKSLGKD SILSNAGSSP NGFSEKFYLI VIECTQDNRS LLHMWNLHLK SIPVSLDEKV
DTKLSEAVWQ PEEHYSSSPE KILSPFSQKY QACRANLQST SRLTLFSEMV YSQELHLPEG
VEIISIKPSA GHLSSSSIYP ACSAPYLLAT SCSDEKVRFW RCRVTDGESA TSKNGKIDLA
YIWEEWPLLI EDGLQSNSSI TVPGRPVEVS CAHTNRLAVA YKQPASNSRS SQDFVMHVSI
FECESTGGSC WVLEQTIHLD ELSTVLDSGI SVDSNLVAYN KQDMYLSSKE NITSNTKHLV
HLDWMSREDG SHILTVGIGS KLFMYGPLAG KVQDQTGKET LAFPLWESTK VVPLSKFVLL
RSVDLVSSVD GSPPFPVSLS WVRDGILVVG MDCEMHVYCQ WQPSSKQEPV ITDSYSGSTP
SITSLIKQSN SSSGLHPPKK TLTRSMTSLA QKICGKKTAF DPSVDMEDSG LFEAAHVLSP
TLPQYHPLQL LELMDLGKVR RAKAILSHLV KCIAGEVVAL NEAESNHERR LRSLTISASG
STTRDPQAFN KAENTDYTEI DSVPPLPLYA LLAADDDSCY SSLEKSSNES TLSKSNQLSK
ESYDELFQTQ LLMTDTHMLE TDEENTKPRV IDLSQYSPTY FGPEHAQVLS GHLLHSSLPG
LSRMEQMSLM ALADTIATTS TDIGESRDRS QGGETLDECG LKFLLAVRLH TFLTTSLPAY
RAQLLHQGLS TSHFAWAFHS VAEEELLNML PAMQKDDPTW SELRAMGVGW WVRNTRILRK
CIEKVAKAAF YRKNDPLDAA IFYLAMKKKA VIWGLYRAEK NTRMTQFFGH NFEDERWRKA
ALKNAFSLLG KQRFEHSAAF FLLAGCLRDA IEVCLEKLND IQLALVIARL YESEFDTSAA
YKSILRKKVL GIDSPVSELC SLNINMHHDP FLRSMAYWIL EDYSGALETL IKQPIRENDD
QVLSASNPTV FNFYNYLRTH PLLLRRHFGS SDTFSTHMSL TGKSGLAGTI NLSERRLFFT
TASAHLKAGC PMLALEVLSK MPKVIKKTRP FYRASSFLDT SKDCSPSSPL KLDAREDKSS
AVDWSQSLIN GFGSSSEGSS EKQSNSTLSF DWSQPSVVFQ DDSLELKWDS DNDEENEDVP
ISMKELKPLQ RKTDKKLDDI SSNYTESFST LDENDLLNPS EDIIAVQLKF RACLKILTVE
LRTLSTGYEI DGGKLRYQLY HWLEKEVIAL QRTCDFCSDA EELQSAFGRN EDEFGLNEDA
EDLPHQTKVK QLRENFQEKR QWLLKYQSLL RMFLSYCILH GSHGGGLASV RMELILLLQE
SQQETSEPLF SSPLSEQTSV PLLFACTANA KTVVANPLLH LSNLTHDILH AIINFDSPPH
PDIQSNKVYV MHTLAASLSA CIYQCLCGSH NYSSFQTNQF TGMVYQTVLL PHRPSLKTGS
LDEALTPNTS PAQWPGITCL IRLLNSSGEE AQSGLTVLLC EILTAVYLSL FIHGLATHSS
NELFRIVAHP LNEKMWSAVF GGGAHVPSKE QTHSKTLPVS SLVEEGEKQN KRFRPSKMSC
RESAPLTPSS APVSQESLAV KEKFIPPELS IWDYFIAKPF LPSSQSRAEY DSEESLGSDD
DDNDDDDDVL ASDFHLQEHS NSNSYSWSLM RLAMVQLVLN NLKTFYPFAG HDLAELPVSS
PLCHAVLKTL QCWEQVLLRR LEIHGGPPQN YIASHTAEES LSAGPAILRH KALLEPTNTP
FKSKHHLALS VKRLWQYLVK QEEIQETFIK NIFTKKRCLN EIEADLGYPG GKARIIHKES
DIITAFAVNK ANRNCIAIAS SHDVQELDVS GILATQVYTW VDDDIEVETK GSEDFLVIHA
RDDLTAVQGT TPYTHSNPGT PINMPWLGST QTGRGASVMI KKAINNVRRM TSHPTLPYYL
TGAQDGSVRM FEWGHSQQIT CFRSGGNSRV TRMRFNYQGN KFGIVDADGY LSLYQTNWKC
CPVTGSMPKP YLTWQCHNKT ANDFVFVSSS SLIATAGLST DNRNVCLWDT LVAPANSLVH
AFTCHDSGAT VLAYAPKHQL LISGGRKGFT YVFDLCQRQQ RQLFQSHDSP VKAVAVDPTE
EYFVTGSAEG NIKIWSLSTF GLLHTFVSEH ARQSIFRNIG TGVMQIETGP ANHIFSCGAD
GTMKMRILPD QFSPLNEVLK NDVKFML
