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Q9Y485

- DMXL1_HUMAN

UniProt

Q9Y485 - DMXL1_HUMAN

Protein

DmX-like protein 1

Gene

DMXL1

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 3 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 108 (01 Oct 2014)
      Sequence version 3 (18 May 2010)
      Previous versions | rss
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    Functioni

    Enzyme and pathway databases

    SignaLinkiQ9Y485.

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    DmX-like protein 1
    Short name:
    X-like 1 protein
    Gene namesi
    Name:DMXL1
    Synonyms:XL1
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 5

    Organism-specific databases

    HGNCiHGNC:2937. DMXL1.

    Pathology & Biotechi

    Organism-specific databases

    PharmGKBiPA27391.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 30273027DmX-like protein 1PRO_0000223322Add
    BLAST

    Amino acid modifications

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Modified residuei324 – 3241Phosphoserine1 Publication
    Modified residuei436 – 4361Phosphoserine2 Publications
    Modified residuei924 – 9241Phosphoserine1 Publication
    Modified residuei1970 – 19701Phosphoserine3 Publications

    Keywords - PTMi

    Phosphoprotein

    Proteomic databases

    MaxQBiQ9Y485.
    PaxDbiQ9Y485.
    PRIDEiQ9Y485.

    PTM databases

    PhosphoSiteiQ9Y485.

    Expressioni

    Tissue specificityi

    Expressed in bone, breast, eye, foreskin, heart, parathyroid, small intestine, testis, tonsils, placenta and uterus.1 Publication

    Developmental stagei

    Expressed in whole embryo.1 Publication

    Gene expression databases

    ArrayExpressiQ9Y485.
    BgeeiQ9Y485.
    CleanExiHS_DMXL1.
    GenevestigatoriQ9Y485.

    Organism-specific databases

    HPAiHPA036431.

    Interactioni

    Protein-protein interaction databases

    BioGridi108023. 2 interactions.
    STRINGi9606.ENSP00000309690.

    Structurei

    3D structure databases

    ProteinModelPortaliQ9Y485.
    SMRiQ9Y485. Positions 167-194, 1140-1166, 2752-2816, 2877-2959.
    ModBaseiSearch...
    MobiDBiSearch...

    Family & Domainsi

    Domains and Repeats

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Repeati108 – 14538WD 1Add
    BLAST
    Repeati166 – 20641WD 2Add
    BLAST
    Repeati229 – 27749WD 3Add
    BLAST
    Repeati476 – 51641WD 4Add
    BLAST
    Repeati580 – 62142WD 5Add
    BLAST
    Repeati628 – 66538WD 6Add
    BLAST
    Repeati848 – 89548WD 7Add
    BLAST
    Repeati968 – 101043WD 8Add
    BLAST
    Repeati1134 – 117542WD 9Add
    BLAST
    Repeati1211 – 125141WD 10Add
    BLAST
    Repeati2742 – 278342WD 11Add
    BLAST
    Repeati2785 – 282440WD 12Add
    BLAST
    Repeati2836 – 287843WD 12Add
    BLAST
    Repeati2884 – 292340WD 14Add
    BLAST
    Repeati2926 – 296540WD 15Add
    BLAST
    Repeati2978 – 301639WD 16Add
    BLAST

    Compositional bias

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Compositional biasi2459 – 246810Poly-Asp

    Sequence similaritiesi

    Contains 16 WD repeats.PROSITE-ProRule annotation

    Keywords - Domaini

    Repeat, WD repeat

    Phylogenomic databases

    eggNOGiCOG2319.
    HOVERGENiHBG079593.
    InParanoidiQ9Y485.
    PhylomeDBiQ9Y485.
    TreeFamiTF312896.

    Family and domain databases

    Gene3Di2.130.10.10. 2 hits.
    InterProiIPR022033. Rav1p_C.
    IPR015943. WD40/YVTN_repeat-like_dom.
    IPR001680. WD40_repeat.
    IPR017986. WD40_repeat_dom.
    [Graphical view]
    PfamiPF12234. Rav1p_C. 1 hit.
    PF00400. WD40. 3 hits.
    [Graphical view]
    SMARTiSM00320. WD40. 10 hits.
    [Graphical view]
    SUPFAMiSSF50978. SSF50978. 2 hits.
    PROSITEiPS00678. WD_REPEATS_1. 1 hit.
    PS50082. WD_REPEATS_2. 1 hit.
    PS50294. WD_REPEATS_REGION. 1 hit.
    [Graphical view]

    Sequencei

    Sequence statusi: Complete.

    Q9Y485-1 [UniParc]FASTAAdd to Basket

    « Hide

    MNLHQVLTGA VNPGDHCFSV GSIGDQRFTA YASGCDIVIL GSDFERLQII     50
    PGAKHGNIQV GCVDCSMQQG KIAASYGNVI SIFEPVNLPK QKKNLELYSQ 100
    WQKSGQFFLE SIAHNITWDP TGSRLLTGSS YLQLWSNTNL EKPTEDENLN 150
    KTDLNFGDWK CIWHCKTASQ VHLMKFSPDG EFFATAGKDD CLLKVWYNVE 200
    NWRTAVTSPD GSSEKQSQGE IDFSFVYLAH PRAVNGFSWR KTSKYMPRAS 250
    VCNVLLTCCK DNVCRLWVET FLPNDCLLYG GDCSHWTESI NLTNNFKRNA 300
    SSKERVQNAL EVNLRHFRRG RRRSLALVAH TGYLPHQQDP HHVHRNTPLH 350
    ANALCHFHIA ASINPATDIP LLPSITSLSL NENEEKTGPF VVHWLNNKEL 400
    HFTLSMEVFL QQLRKSFEQP SSEASVEDSN QADVKSDEET DDGVDDLKIN 450
    PEKKELGCDK MVPNSSFTSL SSAAIDHQIE VLLSEWSKNA DMLFSIHPMD 500
    GSLLVWHVDW LDEYQPGMFR QVQVSFVSRI PVAFPTGDAN SLCKSIMMYA 550
    CTKNVDLAIQ QGKQKPSGLT RSTSMLISSG HNKSSNSLKL SIFTPNVMMI 600
    SKHADGSLNQ WLVSFAEESA FSTVLSISHK SRYCGHRFHL NDLACHSVLP 650
    LLLTTSHHNA LRTPDVDNPE QPFDALNIEE CSLTQQNKST VDVAFQDPSA 700
    VYSELILWRV DPVGPLSFSG GVSELARINS LHVSAFSNVA WLPTLIPSYC 750
    LGAYCNSPSA CFVASDGQYL RLYEAVIDAK KLLSELSNPE ISKYVGEVFN 800
    IVSQQSTARP GCIIALDPIT KLHGRKTQLL HVFEEDFILN NLEKKSLGKD 850
    SILSNAGSSP NGFSEKFYLI VIECTQDNRS LLHMWNLHLK SIPVSLDEKV 900
    DTKLSEAVWQ PEEHYSSSPE KILSPFSQKY QACRANLQST SRLTLFSEMV 950
    YSQELHLPEG VEIISIKPSA GHLSSSSIYP ACSAPYLLAT SCSDEKVRFW 1000
    RCRVTDGESA TSKNGKIDLA YIWEEWPLLI EDGLQSNSSI TVPGRPVEVS 1050
    CAHTNRLAVA YKQPASNSRS SQDFVMHVSI FECESTGGSC WVLEQTIHLD 1100
    ELSTVLDSGI SVDSNLVAYN KQDMYLSSKE NITSNTKHLV HLDWMSREDG 1150
    SHILTVGIGS KLFMYGPLAG KVQDQTGKET LAFPLWESTK VVPLSKFVLL 1200
    RSVDLVSSVD GSPPFPVSLS WVRDGILVVG MDCEMHVYCQ WQPSSKQEPV 1250
    ITDSYSGSTP SITSLIKQSN SSSGLHPPKK TLTRSMTSLA QKICGKKTAF 1300
    DPSVDMEDSG LFEAAHVLSP TLPQYHPLQL LELMDLGKVR RAKAILSHLV 1350
    KCIAGEVVAL NEAESNHERR LRSLTISASG STTRDPQAFN KAENTDYTEI 1400
    DSVPPLPLYA LLAADDDSCY SSLEKSSNES TLSKSNQLSK ESYDELFQTQ 1450
    LLMTDTHMLE TDEENTKPRV IDLSQYSPTY FGPEHAQVLS GHLLHSSLPG 1500
    LSRMEQMSLM ALADTIATTS TDIGESRDRS QGGETLDECG LKFLLAVRLH 1550
    TFLTTSLPAY RAQLLHQGLS TSHFAWAFHS VAEEELLNML PAMQKDDPTW 1600
    SELRAMGVGW WVRNTRILRK CIEKVAKAAF YRKNDPLDAA IFYLAMKKKA 1650
    VIWGLYRAEK NTRMTQFFGH NFEDERWRKA ALKNAFSLLG KQRFEHSAAF 1700
    FLLAGCLRDA IEVCLEKLND IQLALVIARL YESEFDTSAA YKSILRKKVL 1750
    GIDSPVSELC SLNINMHHDP FLRSMAYWIL EDYSGALETL IKQPIRENDD 1800
    QVLSASNPTV FNFYNYLRTH PLLLRRHFGS SDTFSTHMSL TGKSGLAGTI 1850
    NLSERRLFFT TASAHLKAGC PMLALEVLSK MPKVIKKTRP FYRASSFLDT 1900
    SKDCSPSSPL KLDAREDKSS AVDWSQSLIN GFGSSSEGSS EKQSNSTLSF 1950
    DWSQPSVVFQ DDSLELKWDS DNDEENEDVP ISMKELKPLQ RKTDKKLDDI 2000
    SSNYTESFST LDENDLLNPS EDIIAVQLKF RACLKILTVE LRTLSTGYEI 2050
    DGGKLRYQLY HWLEKEVIAL QRTCDFCSDA EELQSAFGRN EDEFGLNEDA 2100
    EDLPHQTKVK QLRENFQEKR QWLLKYQSLL RMFLSYCILH GSHGGGLASV 2150
    RMELILLLQE SQQETSEPLF SSPLSEQTSV PLLFACTANA KTVVANPLLH 2200
    LSNLTHDILH AIINFDSPPH PDIQSNKVYV MHTLAASLSA CIYQCLCGSH 2250
    NYSSFQTNQF TGMVYQTVLL PHRPSLKTGS LDEALTPNTS PAQWPGITCL 2300
    IRLLNSSGEE AQSGLTVLLC EILTAVYLSL FIHGLATHSS NELFRIVAHP 2350
    LNEKMWSAVF GGGAHVPSKE QTHSKTLPVS SLVEEGEKQN KRFRPSKMSC 2400
    RESAPLTPSS APVSQESLAV KEKFIPPELS IWDYFIAKPF LPSSQSRAEY 2450
    DSEESLGSDD DDNDDDDDVL ASDFHLQEHS NSNSYSWSLM RLAMVQLVLN 2500
    NLKTFYPFAG HDLAELPVSS PLCHAVLKTL QCWEQVLLRR LEIHGGPPQN 2550
    YIASHTAEES LSAGPAILRH KALLEPTNTP FKSKHHLALS VKRLWQYLVK 2600
    QEEIQETFIK NIFTKKRCLN EIEADLGYPG GKARIIHKES DIITAFAVNK 2650
    ANRNCIAIAS SHDVQELDVS GILATQVYTW VDDDIEVETK GSEDFLVIHA 2700
    RDDLTAVQGT TPYTHSNPGT PINMPWLGST QTGRGASVMI KKAINNVRRM 2750
    TSHPTLPYYL TGAQDGSVRM FEWGHSQQIT CFRSGGNSRV TRMRFNYQGN 2800
    KFGIVDADGY LSLYQTNWKC CPVTGSMPKP YLTWQCHNKT ANDFVFVSSS 2850
    SLIATAGLST DNRNVCLWDT LVAPANSLVH AFTCHDSGAT VLAYAPKHQL 2900
    LISGGRKGFT YVFDLCQRQQ RQLFQSHDSP VKAVAVDPTE EYFVTGSAEG 2950
    NIKIWSLSTF GLLHTFVSEH ARQSIFRNIG TGVMQIETGP ANHIFSCGAD 3000
    GTMKMRILPD QFSPLNEVLK NDVKFML 3027
    Length:3,027
    Mass (Da):337,839
    Last modified:May 18, 2010 - v3
    Checksum:i62E38BEC4AA71D29
    GO

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti2173 – 21731P → L in CAA06718. (PubMed:10708522)Curated
    Sequence conflicti2453 – 24531E → Z in CAA06718. (PubMed:10708522)Curated
    Sequence conflicti2876 – 28761N → D in CAA06718. (PubMed:10708522)Curated

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti221 – 2211I → M.
    Corresponds to variant rs7700801 [ dbSNP | Ensembl ].
    VAR_057589
    Natural varianti851 – 8511S → N.
    Corresponds to variant rs4895362 [ dbSNP | Ensembl ].
    VAR_057590
    Natural varianti2067 – 20671V → M.
    Corresponds to variant rs9790916 [ dbSNP | Ensembl ].
    VAR_057591
    Natural varianti2107 – 21071T → S.
    Corresponds to variant rs9791092 [ dbSNP | Ensembl ].
    VAR_057592

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AJ005821 mRNA. Translation: CAA06718.2.
    AC027320 Genomic DNA. No translation available.
    AC118465 Genomic DNA. No translation available.
    CCDSiCCDS4125.1.
    RefSeqiNP_001277250.1. NM_001290321.1.
    NP_001277251.1. NM_001290322.1.
    NP_005500.4. NM_005509.4.
    UniGeneiHs.181042.

    Genome annotation databases

    EnsembliENST00000311085; ENSP00000309690; ENSG00000172869.
    GeneIDi1657.
    KEGGihsa:1657.
    UCSCiuc003ksd.2. human.

    Polymorphism databases

    DMDMi296439372.

    Keywords - Coding sequence diversityi

    Polymorphism

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AJ005821 mRNA. Translation: CAA06718.2 .
    AC027320 Genomic DNA. No translation available.
    AC118465 Genomic DNA. No translation available.
    CCDSi CCDS4125.1.
    RefSeqi NP_001277250.1. NM_001290321.1.
    NP_001277251.1. NM_001290322.1.
    NP_005500.4. NM_005509.4.
    UniGenei Hs.181042.

    3D structure databases

    ProteinModelPortali Q9Y485.
    SMRi Q9Y485. Positions 167-194, 1140-1166, 2752-2816, 2877-2959.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 108023. 2 interactions.
    STRINGi 9606.ENSP00000309690.

    PTM databases

    PhosphoSitei Q9Y485.

    Polymorphism databases

    DMDMi 296439372.

    Proteomic databases

    MaxQBi Q9Y485.
    PaxDbi Q9Y485.
    PRIDEi Q9Y485.

    Protocols and materials databases

    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000311085 ; ENSP00000309690 ; ENSG00000172869 .
    GeneIDi 1657.
    KEGGi hsa:1657.
    UCSCi uc003ksd.2. human.

    Organism-specific databases

    CTDi 1657.
    GeneCardsi GC05P118435.
    H-InvDB HIX0024823.
    HGNCi HGNC:2937. DMXL1.
    HPAi HPA036431.
    MIMi 605671. gene.
    neXtProti NX_Q9Y485.
    PharmGKBi PA27391.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi COG2319.
    HOVERGENi HBG079593.
    InParanoidi Q9Y485.
    PhylomeDBi Q9Y485.
    TreeFami TF312896.

    Enzyme and pathway databases

    SignaLinki Q9Y485.

    Miscellaneous databases

    GenomeRNAii 1657.
    NextBioi 6824.
    PROi Q9Y485.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi Q9Y485.
    Bgeei Q9Y485.
    CleanExi HS_DMXL1.
    Genevestigatori Q9Y485.

    Family and domain databases

    Gene3Di 2.130.10.10. 2 hits.
    InterProi IPR022033. Rav1p_C.
    IPR015943. WD40/YVTN_repeat-like_dom.
    IPR001680. WD40_repeat.
    IPR017986. WD40_repeat_dom.
    [Graphical view ]
    Pfami PF12234. Rav1p_C. 1 hit.
    PF00400. WD40. 3 hits.
    [Graphical view ]
    SMARTi SM00320. WD40. 10 hits.
    [Graphical view ]
    SUPFAMi SSF50978. SSF50978. 2 hits.
    PROSITEi PS00678. WD_REPEATS_1. 1 hit.
    PS50082. WD_REPEATS_2. 1 hit.
    PS50294. WD_REPEATS_REGION. 1 hit.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    1. "Mapping and structure of DMXL1, a human homologue of the DmX gene from Drosophila melanogaster coding for a WD repeat protein."
      Kraemer C., Enklaar T., Zabel B., Schmidt E.R.
      Genomics 64:97-101(2000) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA], TISSUE SPECIFICITY, DEVELOPMENTAL STAGE.
      Tissue: Placenta.
    2. "The DNA sequence and comparative analysis of human chromosome 5."
      Schmutz J., Martin J., Terry A., Couronne O., Grimwood J., Lowry S., Gordon L.A., Scott D., Xie G., Huang W., Hellsten U., Tran-Gyamfi M., She X., Prabhakar S., Aerts A., Altherr M., Bajorek E., Black S.
      , Branscomb E., Caoile C., Challacombe J.F., Chan Y.M., Denys M., Detter J.C., Escobar J., Flowers D., Fotopulos D., Glavina T., Gomez M., Gonzales E., Goodstein D., Grigoriev I., Groza M., Hammon N., Hawkins T., Haydu L., Israni S., Jett J., Kadner K., Kimball H., Kobayashi A., Lopez F., Lou Y., Martinez D., Medina C., Morgan J., Nandkeshwar R., Noonan J.P., Pitluck S., Pollard M., Predki P., Priest J., Ramirez L., Retterer J., Rodriguez A., Rogers S., Salamov A., Salazar A., Thayer N., Tice H., Tsai M., Ustaszewska A., Vo N., Wheeler J., Wu K., Yang J., Dickson M., Cheng J.-F., Eichler E.E., Olsen A., Pennacchio L.A., Rokhsar D.S., Richardson P., Lucas S.M., Myers R.M., Rubin E.M.
      Nature 431:268-274(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    3. Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-924, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
      Tissue: Cervix carcinoma.
    4. "Lys-N and trypsin cover complementary parts of the phosphoproteome in a refined SCX-based approach."
      Gauci S., Helbig A.O., Slijper M., Krijgsveld J., Heck A.J., Mohammed S.
      Anal. Chem. 81:4493-4501(2009) [PubMed] [Europe PMC] [Abstract]
      Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
    5. "Quantitative phosphoproteomic analysis of T cell receptor signaling reveals system-wide modulation of protein-protein interactions."
      Mayya V., Lundgren D.H., Hwang S.-I., Rezaul K., Wu L., Eng J.K., Rodionov V., Han D.K.
      Sci. Signal. 2:RA46-RA46(2009) [PubMed] [Europe PMC] [Abstract]
      Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-1970, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
      Tissue: Leukemic T-cell.
    6. "Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis."
      Olsen J.V., Vermeulen M., Santamaria A., Kumar C., Miller M.L., Jensen L.J., Gnad F., Cox J., Jensen T.S., Nigg E.A., Brunak S., Mann M.
      Sci. Signal. 3:RA3-RA3(2010) [PubMed] [Europe PMC] [Abstract]
      Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-436 AND SER-1970, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
      Tissue: Cervix carcinoma.
    7. Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
    8. "System-wide temporal characterization of the proteome and phosphoproteome of human embryonic stem cell differentiation."
      Rigbolt K.T., Prokhorova T.A., Akimov V., Henningsen J., Johansen P.T., Kratchmarova I., Kassem M., Mann M., Olsen J.V., Blagoev B.
      Sci. Signal. 4:RS3-RS3(2011) [PubMed] [Europe PMC] [Abstract]
      Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-324; SER-436 AND SER-1970, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].

    Entry informationi

    Entry nameiDMXL1_HUMAN
    AccessioniPrimary (citable) accession number: Q9Y485
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: March 7, 2006
    Last sequence update: May 18, 2010
    Last modified: October 1, 2014
    This is version 108 of the entry and version 3 of the sequence. [Complete history]
    Entry statusiReviewed (UniProtKB/Swiss-Prot)
    Annotation programChordata Protein Annotation Program
    DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

    Miscellaneousi

    Keywords - Technical termi

    Complete proteome, Reference proteome

    Documents

    1. Human chromosome 5
      Human chromosome 5: entries, gene names and cross-references to MIM
    2. Human entries with polymorphisms or disease mutations
      List of human entries with polymorphisms or disease mutations
    3. Human polymorphisms and disease mutations
      Index of human polymorphisms and disease mutations
    4. MIM cross-references
      Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
    5. SIMILARITY comments
      Index of protein domains and families

    External Data

    Dasty 3