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Q8IZU8

- DSEL_HUMAN

UniProt

Q8IZU8 - DSEL_HUMAN

Protein

Dermatan-sulfate epimerase-like protein

Gene

DSEL

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 4 out of 5- Experimental evidence at transcript leveli
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    • History
      Entry version 79 (01 Oct 2014)
      Sequence version 2 (20 Feb 2007)
      Previous versions | rss
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    Functioni

    GO - Molecular functioni

    1. isomerase activity Source: UniProtKB-KW
    2. sulfotransferase activity Source: InterPro

    GO - Biological processi

    1. carbohydrate metabolic process Source: Reactome
    2. chondroitin sulfate metabolic process Source: Reactome
    3. dermatan sulfate biosynthetic process Source: Reactome
    4. glycosaminoglycan metabolic process Source: Reactome
    5. small molecule metabolic process Source: Reactome

    Keywords - Molecular functioni

    Isomerase

    Enzyme and pathway databases

    ReactomeiREACT_120800. Dermatan sulfate biosynthesis.

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Dermatan-sulfate epimerase-like protein (EC:5.1.-.-)
    Gene namesi
    Name:DSEL
    Synonyms:C18orf4, NCAG1
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 18

    Organism-specific databases

    HGNCiHGNC:18144. DSEL.

    Subcellular locationi

    GO - Cellular componenti

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

    Keywords - Cellular componenti

    Membrane

    Pathology & Biotechi

    Organism-specific databases

    PharmGKBiPA162384097.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Signal peptidei1 – 2020Sequence AnalysisAdd
    BLAST
    Chaini21 – 12121192Dermatan-sulfate epimerase-like proteinPRO_0000278288Add
    BLAST

    Amino acid modifications

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Glycosylationi28 – 281N-linked (GlcNAc...)Sequence Analysis
    Glycosylationi666 – 6661N-linked (GlcNAc...)Sequence Analysis
    Glycosylationi688 – 6881N-linked (GlcNAc...)Sequence Analysis
    Glycosylationi709 – 7091N-linked (GlcNAc...)Sequence Analysis
    Glycosylationi874 – 8741N-linked (GlcNAc...)Sequence Analysis

    Keywords - PTMi

    Glycoprotein

    Proteomic databases

    MaxQBiQ8IZU8.
    PaxDbiQ8IZU8.
    PRIDEiQ8IZU8.

    PTM databases

    PhosphoSiteiQ8IZU8.

    Expressioni

    Tissue specificityi

    Expressed in different brain areas as well as in multiple other peripheral tissues.1 Publication

    Gene expression databases

    BgeeiQ8IZU8.
    CleanExiHS_DSEL.
    GenevestigatoriQ8IZU8.

    Interactioni

    Protein-protein interaction databases

    BioGridi124911. 1 interaction.
    STRINGi9606.ENSP00000310565.

    Structurei

    3D structure databases

    ProteinModelPortaliQ8IZU8.
    SMRiQ8IZU8. Positions 1119-1210.
    ModBaseiSearch...
    MobiDBiSearch...

    Transmembrane

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Transmembranei764 – 78421HelicalSequence AnalysisAdd
    BLAST
    Transmembranei803 – 82321HelicalSequence AnalysisAdd
    BLAST

    Family & Domainsi

    Sequence similaritiesi

    Belongs to the dermatan-sulfate isomerase family.Curated

    Keywords - Domaini

    Signal, Transmembrane, Transmembrane helix

    Phylogenomic databases

    eggNOGiNOG19607.
    HOGENOMiHOG000060116.
    HOVERGENiHBG081464.
    InParanoidiQ8IZU8.
    OrthoDBiEOG7RZ5P7.
    PhylomeDBiQ8IZU8.
    TreeFamiTF334118.

    Family and domain databases

    Gene3Di3.40.50.300. 2 hits.
    InterProiIPR027417. P-loop_NTPase.
    IPR000863. Sulfotransferase_dom.
    [Graphical view]
    PfamiPF00685. Sulfotransfer_1. 1 hit.
    [Graphical view]
    SUPFAMiSSF52540. SSF52540. 3 hits.

    Sequencei

    Sequence statusi: Complete.

    Sequence processingi: The displayed sequence is further processed into a mature form.

    Q8IZU8-1 [UniParc]FASTAAdd to Basket

    « Hide

    MALMFTGHLL FLALLMFAFS TFEESVSNYS EWAVFTDDID QFKTQKVQDF     50
    RPNQKLKKSM LHPSLYFDAG EIQAMRQKSR ASHLHLFRAI RSAVTVMLSN 100
    PTYYLPPPKH ADFAAKWNEI YGNNLPPLAL YCLLCPEDKV AFEFVLEYMD 150
    RMVGYKDWLV ENAPGDEVPI GHSLTGFATA FDFLYNLLDN HRRQKYLEKI 200
    WVITEEMYEY SKVRSWGKQL LHNHQATNMI ALLTGALVTG VDKGSKANIW 250
    KQAVVDVMEK TMFLLNHIVD GSLDEGVAYG SYTAKSVTQY VFLAQRHFNI 300
    NNLDNNWLKM HFWFYYATLL PGFQRTVGIA DSNYNWFYGP ESQLVFLDKF 350
    ILKNGAGNWL AQQIRKHRPK DGPMVPSTAQ RWSTLHTEYI WYDPQLTPQP 400
    PADYGTAKIH TFPNWGVVTY GAGLPNTQTN TFVSFKSGKL GGRAVYDIVH 450
    FQPYSWIDGW RSFNPGHEHP DQNSFTFAPN GQVFVSEALY GPKLSHLNNV 500
    LVFAPSPSSQ CNKPWEGQLG ECAQWLKWTG EEVGDAAGEI ITASQHGEMV 550
    FVSGEAVSAY SSAMRLKSVY RALLLLNSQT LLVVDHIERQ EDSPINSVSA 600
    FFHNLDIDFK YIPYKFMNRY NGAMMDVWDA HYKMFWFDHH GNSPMASIQE 650
    AEQAAEFKKR WTQFVNVTFQ MEPTITRIAY VFYGPYINVS SCRFIDSSNP 700
    GLQISLNVNN TEHVVSIVTD YHNLKTRFNY LGFGGFASVA DQGQITRFGL 750
    GTQAIVKPVR HDRIIFPFGF KFNIAVGLIL CISLVILTFQ WRFYLSFRKL 800
    MRWILILVIA LWFIELLDVW STCSQPICAK WTRTEAEGSK KSLSSEGHHM 850
    DLPDVVITSL PGSGAEILKQ LFFNSSDFLY IRVPTAYIDI PETELEIDSF 900
    VDACEWKVSD IRSGHFRLLR GWLQSLVQDT KLHLQNIHLH EPNRGKLAQY 950
    FAMNKDKKRK FKRRESLPEQ RSQMKGAFDR DAEYIRALRR HLVYYPSARP 1000
    VLSLSSGSWT LKLHFFQEVL GASMRALYIV RDPRAWIYSM LYNSKPSLYS 1050
    LKNVPEHLAK LFKIEGGKGK CNLNSGYAFE YEPLRKELSK SKSNAVSLLS 1100
    HLWLANTAAA LRINTDLLPT SYQLVKFEDI VHFPQKTTER IFAFLGIPLS 1150
    PASLNQILFA TSTNLFYLPY EGEISPTNTN VWKQNLPRDE IKLIENICWT 1200
    LMDRLGYPKF MD 1212
    Length:1,212
    Mass (Da):139,238
    Last modified:February 20, 2007 - v2
    Checksum:iB3C52221661234BD
    GO

    Sequence cautioni

    The sequence AAI17326.1 differs from that shown. Reason: Erroneous initiation.
    The sequence AAN32895.1 differs from that shown. Reason: Erroneous initiation.

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti188 – 1881Missing in AAI17326. (PubMed:15489334)Curated

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti673 – 6731P → S.
    Corresponds to variant rs2279269 [ dbSNP | Ensembl ].
    VAR_030833
    Natural varianti730 – 7301Y → C.
    Corresponds to variant rs12953840 [ dbSNP | Ensembl ].
    VAR_030834
    Natural varianti832 – 8321T → S.
    Corresponds to variant rs35479856 [ dbSNP | Ensembl ].
    VAR_057759
    Natural varianti1090 – 10901K → E in a colorectal cancer sample; somatic mutation. 1 Publication
    VAR_036528

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AF480435 mRNA. Translation: AAN32895.1. Different initiation.
    AC110597 Genomic DNA. No translation available.
    BC062557 mRNA. Translation: AAH62557.1. Different termination.
    BC117325 mRNA. Translation: AAI17326.1. Different initiation.
    RefSeqiNP_115536.1. NM_032160.2.
    UniGeneiHs.124673.

    Genome annotation databases

    EnsembliENST00000310045; ENSP00000310565; ENSG00000171451.
    ENST00000572659; ENSP00000460321; ENSG00000262102.
    GeneIDi92126.
    KEGGihsa:92126.
    UCSCiuc002lke.1. human.

    Polymorphism databases

    DMDMi126215700.

    Keywords - Coding sequence diversityi

    Polymorphism

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AF480435 mRNA. Translation: AAN32895.1 . Different initiation.
    AC110597 Genomic DNA. No translation available.
    BC062557 mRNA. Translation: AAH62557.1 . Different termination.
    BC117325 mRNA. Translation: AAI17326.1 . Different initiation.
    RefSeqi NP_115536.1. NM_032160.2.
    UniGenei Hs.124673.

    3D structure databases

    ProteinModelPortali Q8IZU8.
    SMRi Q8IZU8. Positions 1119-1210.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 124911. 1 interaction.
    STRINGi 9606.ENSP00000310565.

    PTM databases

    PhosphoSitei Q8IZU8.

    Polymorphism databases

    DMDMi 126215700.

    Proteomic databases

    MaxQBi Q8IZU8.
    PaxDbi Q8IZU8.
    PRIDEi Q8IZU8.

    Protocols and materials databases

    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000310045 ; ENSP00000310565 ; ENSG00000171451 .
    ENST00000572659 ; ENSP00000460321 ; ENSG00000262102 .
    GeneIDi 92126.
    KEGGi hsa:92126.
    UCSCi uc002lke.1. human.

    Organism-specific databases

    CTDi 92126.
    GeneCardsi GC18M065173.
    HGNCi HGNC:18144. DSEL.
    MIMi 611125. gene.
    neXtProti NX_Q8IZU8.
    PharmGKBi PA162384097.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG19607.
    HOGENOMi HOG000060116.
    HOVERGENi HBG081464.
    InParanoidi Q8IZU8.
    OrthoDBi EOG7RZ5P7.
    PhylomeDBi Q8IZU8.
    TreeFami TF334118.

    Enzyme and pathway databases

    Reactomei REACT_120800. Dermatan sulfate biosynthesis.

    Miscellaneous databases

    GenomeRNAii 92126.
    NextBioi 77597.
    PROi Q8IZU8.
    SOURCEi Search...

    Gene expression databases

    Bgeei Q8IZU8.
    CleanExi HS_DSEL.
    Genevestigatori Q8IZU8.

    Family and domain databases

    Gene3Di 3.40.50.300. 2 hits.
    InterProi IPR027417. P-loop_NTPase.
    IPR000863. Sulfotransferase_dom.
    [Graphical view ]
    Pfami PF00685. Sulfotransfer_1. 1 hit.
    [Graphical view ]
    SUPFAMi SSF52540. SSF52540. 3 hits.
    ProtoNeti Search...

    Publicationsi

    1. "A novel CpG-associated brain-expressed candidate gene for chromosome 18q-linked bipolar disorder."
      Goossens D., Van Gestel S., Claes S., De Rijk P., Souery D., Massat I., Van den Bossche D., Backhovens H., Mendlewicz J., Van Broeckhoven C., Del-Favero J.
      Mol. Psychiatry 8:83-89(2003) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA], TISSUE SPECIFICITY.
    2. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    3. "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].
      Tissue: Brain and Mammary gland.
    4. Cited for: VARIANT [LARGE SCALE ANALYSIS] GLU-1090.

    Entry informationi

    Entry nameiDSEL_HUMAN
    AccessioniPrimary (citable) accession number: Q8IZU8
    Secondary accession number(s): Q17RH1, Q6P5Z3
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: February 20, 2007
    Last sequence update: February 20, 2007
    Last modified: October 1, 2014
    This is version 79 of the entry and version 2 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 18
      Human chromosome 18: 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