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Q2PZI1

- D19L1_HUMAN

UniProt

Q2PZI1 - D19L1_HUMAN

Protein

Probable C-mannosyltransferase DPY19L1

Gene

DPY19L1

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 3 out of 5- Experimental evidence at transcript leveli
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    • History
      Entry version 64 (01 Oct 2014)
      Sequence version 1 (24 Jan 2006)
      Previous versions | rss
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    Functioni

    Probable C-mannosyltransferase that mediates C-mannosylation of tryptophan residues on target proteins.By similarity

    GO - Molecular functioni

    1. transferase activity, transferring glycosyl groups Source: UniProtKB-KW

    Keywords - Molecular functioni

    Glycosyltransferase, Transferase

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Probable C-mannosyltransferase DPY19L1 (EC:2.4.1.-)
    Alternative name(s):
    Dpy-19-like protein 1
    Protein dpy-19 homolog 1
    Gene namesi
    Name:DPY19L1
    Synonyms:GA0500, KIAA0877
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 7

    Organism-specific databases

    HGNCiHGNC:22205. DPY19L1.

    Subcellular locationi

    GO - Cellular componenti

    1. integral component of membrane Source: UniProtKB-KW
    2. membrane Source: UniProtKB

    Keywords - Cellular componenti

    Membrane

    Pathology & Biotechi

    Organism-specific databases

    PharmGKBiPA142671946.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 675675Probable C-mannosyltransferase DPY19L1PRO_0000311877Add
    BLAST

    Proteomic databases

    MaxQBiQ2PZI1.
    PaxDbiQ2PZI1.
    PRIDEiQ2PZI1.

    PTM databases

    PhosphoSiteiQ2PZI1.

    Expressioni

    Tissue specificityi

    Widely expressed.1 Publication

    Gene expression databases

    ArrayExpressiQ2PZI1.
    BgeeiQ2PZI1.
    CleanExiHS_DPY19L1.
    GenevestigatoriQ2PZI1.

    Organism-specific databases

    HPAiHPA059139.

    Interactioni

    Protein-protein interaction databases

    BioGridi116920. 3 interactions.
    IntActiQ2PZI1. 1 interaction.

    Structurei

    3D structure databases

    ProteinModelPortaliQ2PZI1.
    ModBaseiSearch...
    MobiDBiSearch...

    Transmembrane

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Transmembranei66 – 8823HelicalSequence AnalysisAdd
    BLAST
    Transmembranei156 – 17621HelicalSequence AnalysisAdd
    BLAST
    Transmembranei186 – 20823HelicalSequence AnalysisAdd
    BLAST
    Transmembranei236 – 25419HelicalSequence AnalysisAdd
    BLAST
    Transmembranei260 – 27920HelicalSequence AnalysisAdd
    BLAST
    Transmembranei286 – 30318HelicalSequence AnalysisAdd
    BLAST
    Transmembranei309 – 32517HelicalSequence AnalysisAdd
    BLAST
    Transmembranei334 – 35421HelicalSequence AnalysisAdd
    BLAST
    Transmembranei414 – 43421HelicalSequence AnalysisAdd
    BLAST
    Transmembranei449 – 46921HelicalSequence AnalysisAdd
    BLAST
    Transmembranei491 – 51121HelicalSequence AnalysisAdd
    BLAST

    Family & Domainsi

    Sequence similaritiesi

    Belongs to the dpy-19 family.Curated

    Keywords - Domaini

    Transmembrane, Transmembrane helix

    Phylogenomic databases

    eggNOGiNOG236656.
    HOGENOMiHOG000007991.
    HOVERGENiHBG061402.
    InParanoidiQ2PZI1.
    OMAiCTRRTRP.
    OrthoDBiEOG7N37BZ.
    PhylomeDBiQ2PZI1.
    TreeFamiTF313376.

    Family and domain databases

    InterProiIPR018732. Dpy-19.
    [Graphical view]
    PfamiPF10034. Dpy19. 1 hit.
    [Graphical view]

    Sequences (2)i

    Sequence statusi: Complete.

    This entry describes 2 isoformsi produced by alternative splicing. Align

    Isoform 1 (identifier: Q2PZI1-1) [UniParc]FASTAAdd to Basket

    This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

    « Hide

    MEGRPPPEGR PPPRPRTGRA PRGRRRAVFA AVLHWSHITH LFENDRHFSH    50
    LSTLEREMAF RTEMGLYYSY FKTIVEAPSF LNGVWMIMND KLTEYPLVIN 100
    TLKRFNLYPE VILASWYRIY TKIMDLIGIQ TKICWTVTRG EGLSPIESCE 150
    GLGDPACFYV AVIFILNGLM MALFFIYGTY LSGSRLGGLV TVLCFFFNHG 200
    ECTRVMWTPP LRESFSYPFL VLQMLLVTHI LRATKLYRGS LIALCISNVF 250
    FMLPWQFAQF VLLTQIASLF AVYVVGYIDI CKLRKIIYIH MISLALCFVL 300
    MFGNSMLLTS YYASSLVIIW GILAMKPHFL KINVSELSLW VIQGCFWLFG 350
    TVILKYLTSK IFGIADDAHI GNLLTSKFFS YKDFDTLLYT CAAEFDFMEK 400
    ETPLRYTKTL LLPVVLVVFV AIVRKIISDM WGVLAKQQTH VRKHQFDHGE 450
    LVYHALQLLA YTALGILIMR LKLFLTPHMC VMASLICSRQ LFGWLFCKVH 500
    PGAIVFAILA AMSIQGSANL QTQWNIVGEF SNLPQEELIE WIKYSTKPDA 550
    VFAGAMPTMA SVKLSALRPI VNHPHYEDAG LRARTKIVYS MYSRKAAEEV 600
    KRELIKLKVN YYILEESWCV RRSKPGCSMP EIWDVEDPAN AGKTPLCNLL 650
    VKDSKPHFTT VFQNSVYKVL EVVKE 675
    Length:675
    Mass (Da):77,319
    Last modified:January 24, 2006 - v1
    Checksum:i89B82078AC235F3E
    GO
    Isoform 2 (identifier: Q2PZI1-2) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         1-590: Missing.

    Show »
    Length:85
    Mass (Da):9,877
    Checksum:i64046E7BE90747A3
    GO

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti502 – 5021G → V.
    Corresponds to variant rs1637696 [ dbSNP | Ensembl ].
    VAR_037332

    Alternative sequence

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Alternative sequencei1 – 590590Missing in isoform 2. 1 PublicationVSP_029628Add
    BLAST

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    DQ287932 mRNA. Translation: ABB89208.1.
    BC029591 mRNA. Translation: AAH29591.1.
    AB020684 mRNA. Translation: BAA74900.1.
    CCDSiCCDS43567.1. [Q2PZI1-1]
    RefSeqiNP_056098.1. NM_015283.1. [Q2PZI1-1]
    UniGeneiHs.408623.

    Genome annotation databases

    EnsembliENST00000310974; ENSP00000308695; ENSG00000173852. [Q2PZI1-1]
    GeneIDi23333.
    KEGGihsa:23333.
    UCSCiuc003tem.4. human. [Q2PZI1-1]

    Polymorphism databases

    DMDMi121941680.

    Keywords - Coding sequence diversityi

    Alternative splicing, Polymorphism

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    DQ287932 mRNA. Translation: ABB89208.1 .
    BC029591 mRNA. Translation: AAH29591.1 .
    AB020684 mRNA. Translation: BAA74900.1 .
    CCDSi CCDS43567.1. [Q2PZI1-1 ]
    RefSeqi NP_056098.1. NM_015283.1. [Q2PZI1-1 ]
    UniGenei Hs.408623.

    3D structure databases

    ProteinModelPortali Q2PZI1.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 116920. 3 interactions.
    IntActi Q2PZI1. 1 interaction.

    PTM databases

    PhosphoSitei Q2PZI1.

    Polymorphism databases

    DMDMi 121941680.

    Proteomic databases

    MaxQBi Q2PZI1.
    PaxDbi Q2PZI1.
    PRIDEi Q2PZI1.

    Protocols and materials databases

    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000310974 ; ENSP00000308695 ; ENSG00000173852 . [Q2PZI1-1 ]
    GeneIDi 23333.
    KEGGi hsa:23333.
    UCSCi uc003tem.4. human. [Q2PZI1-1 ]

    Organism-specific databases

    CTDi 23333.
    GeneCardsi GC07M034935.
    H-InvDB HIX0006593.
    HIX0058364.
    HGNCi HGNC:22205. DPY19L1.
    HPAi HPA059139.
    MIMi 613892. gene.
    neXtProti NX_Q2PZI1.
    PharmGKBi PA142671946.
    HUGEi Search...
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG236656.
    HOGENOMi HOG000007991.
    HOVERGENi HBG061402.
    InParanoidi Q2PZI1.
    OMAi CTRRTRP.
    OrthoDBi EOG7N37BZ.
    PhylomeDBi Q2PZI1.
    TreeFami TF313376.

    Miscellaneous databases

    GenomeRNAii 23333.
    NextBioi 45263.
    PROi Q2PZI1.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi Q2PZI1.
    Bgeei Q2PZI1.
    CleanExi HS_DPY19L1.
    Genevestigatori Q2PZI1.

    Family and domain databases

    InterProi IPR018732. Dpy-19.
    [Graphical view ]
    Pfami PF10034. Dpy19. 1 hit.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    1. "The Centre for Applied Genomics chromosome 7 annotation project."
      Carson A.R., Cheung J., Scherer S.W.
      Submitted (NOV-2005) to the EMBL/GenBank/DDBJ databases
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
    2. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
      The MGC Project Team
      Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2).
      Tissue: Testis.
    3. "Prediction of the coding sequences of unidentified human genes. XII. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro."
      Nagase T., Ishikawa K., Suyama M., Kikuno R., Hirosawa M., Miyajima N., Tanaka A., Kotani H., Nomura N., Ohara O.
      DNA Res. 5:355-364(1998) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 96-675 (ISOFORM 1).
      Tissue: Brain.
    4. "Duplication and relocation of the functional DPY19L2 gene within low copy repeats."
      Carson A.R., Cheung J., Scherer S.W.
      BMC Genomics 7:45-45(2006) [PubMed] [Europe PMC] [Abstract]
      Cited for: GENE DUPLICATION, TISSUE SPECIFICITY.

    Entry informationi

    Entry nameiD19L1_HUMAN
    AccessioniPrimary (citable) accession number: Q2PZI1
    Secondary accession number(s): O94954, Q4G151
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: December 4, 2007
    Last sequence update: January 24, 2006
    Last modified: October 1, 2014
    This is version 64 of the entry and version 1 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

    Miscellaneous

    It has been suggested that DPY19L1 has a related pseudogene DPY19L1P1.

    Keywords - Technical termi

    Complete proteome, Reference proteome

    Documents

    1. Human chromosome 7
      Human chromosome 7: 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