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Q9UBQ6

- EXTL2_HUMAN

UniProt

Q9UBQ6 - EXTL2_HUMAN

Protein

Exostosin-like 2

Gene

EXTL2

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 125 (01 Oct 2014)
      Sequence version 1 (01 May 2000)
      Previous versions | rss
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    Functioni

    Glycosyltransferase required for the biosynthesis of heparan-sulfate and responsible for the alternating addition of beta-1-4-linked glucuronic acid (GlcA) and alpha-1-4-linked N-acetylglucosamine (GlcNAc) units to nascent heparan sulfate chains.1 Publication

    Catalytic activityi

    UDP-N-acetyl-D-glucosamine + beta-D-glucuronosyl-(1->3)-beta-D-galactosyl-(1->3)-beta-D-galactosyl-(1->4)-beta-D-xylosyl-proteoglycan = UDP + alpha-N-acetyl-D-glucosaminyl-(1->4)-beta-D-glucuronosyl-(1->3)-beta-D-galactosyl-(1->3)-beta-D-galactosyl-(1->4)-beta-D-xylosyl-proteoglycan.

    Pathwayi

    Sites

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sitei53 – 542Cleavage
    Metal bindingi152 – 1521Manganese; catalyticBy similarity

    GO - Molecular functioni

    1. alpha-1,4-N-acetylgalactosaminyltransferase activity Source: UniProtKB
    2. glucuronyl-galactosyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity Source: UniProtKB
    3. metal ion binding Source: UniProtKB-KW

    GO - Biological processi

    1. heparan sulfate proteoglycan biosynthetic process Source: UniProtKB-UniPathway
    2. N-acetylglucosamine metabolic process Source: UniProtKB
    3. UDP-N-acetylgalactosamine metabolic process Source: UniProtKB

    Keywords - Molecular functioni

    Glycosyltransferase, Transferase

    Keywords - Ligandi

    Manganese, Metal-binding

    Enzyme and pathway databases

    BioCyciMetaCyc:HS08719-MONOMER.
    UniPathwayiUPA00756.

    Protein family/group databases

    CAZyiGT64. Glycosyltransferase Family 64.

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Exostosin-like 2 (EC:2.4.1.223)
    Alternative name(s):
    Alpha-1,4-N-acetylhexosaminyltransferase EXTL2
    Alpha-GalNAcT EXTL2
    EXT-related protein 2
    Glucuronyl-galactosyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase
    Cleaved into the following chain:
    Gene namesi
    Name:EXTL2
    Synonyms:EXTR2
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 1

    Organism-specific databases

    HGNCiHGNC:3516. EXTL2.

    Subcellular locationi

    Chain Processed exostosin-like 2 : Secreted
    Note: A soluble form is found in the serum.

    GO - Cellular componenti

    1. endoplasmic reticulum Source: BHF-UCL
    2. extracellular vesicular exosome Source: UniProt
    3. integral component of membrane Source: UniProtKB-KW
    4. intrinsic component of endoplasmic reticulum membrane Source: InterPro

    Keywords - Cellular componenti

    Endoplasmic reticulum, Membrane, Secreted

    Pathology & Biotechi

    Organism-specific databases

    PharmGKBiPA27928.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini? – 330Processed exostosin-like 2PRO_0000296227
    Chaini1 – 330330Exostosin-like 2PRO_0000149655Add
    BLAST

    Amino acid modifications

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Glycosylationi74 – 741N-linked (GlcNAc...)
    Disulfide bondi243 ↔ 296By similarity

    Post-translational modificationi

    The soluble form derives from the membrane form by proteolytic processing.

    Keywords - PTMi

    Disulfide bond, Glycoprotein

    Proteomic databases

    MaxQBiQ9UBQ6.
    PaxDbiQ9UBQ6.
    PRIDEiQ9UBQ6.

    PTM databases

    PhosphoSiteiQ9UBQ6.

    Expressioni

    Tissue specificityi

    Ubiquitous.

    Gene expression databases

    ArrayExpressiQ9UBQ6.
    BgeeiQ9UBQ6.
    CleanExiHS_EXTL2.
    GenevestigatoriQ9UBQ6.

    Organism-specific databases

    HPAiCAB020716.

    Interactioni

    Protein-protein interaction databases

    STRINGi9606.ENSP00000359131.

    Structurei

    3D structure databases

    ProteinModelPortaliQ9UBQ6.
    SMRiQ9UBQ6. Positions 63-327.
    ModBaseiSearch...
    MobiDBiSearch...

    Topological domain

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Topological domaini1 – 2222CytoplasmicSequence AnalysisAdd
    BLAST
    Topological domaini44 – 330287LumenalSequence AnalysisAdd
    BLAST

    Transmembrane

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Transmembranei23 – 4321Helical; Signal-anchor for type II membrane proteinSequence AnalysisAdd
    BLAST

    Family & Domainsi

    Sequence similaritiesi

    Belongs to the glycosyltransferase 47 family.Curated

    Keywords - Domaini

    Signal-anchor, Transmembrane, Transmembrane helix

    Phylogenomic databases

    eggNOGiNOG276916.
    HOGENOMiHOG000054215.
    HOVERGENiHBG051525.
    InParanoidiQ9UBQ6.
    KOiK02369.
    OMAiHICKLPG.
    OrthoDBiEOG7SV0VP.
    PhylomeDBiQ9UBQ6.
    TreeFamiTF314231.

    Family and domain databases

    Gene3Di3.90.550.10. 1 hit.
    InterProiIPR004263. Exostosin.
    IPR015338. HexNAc_Trfase_a.
    IPR029044. Nucleotide-diphossugar_trans.
    [Graphical view]
    PANTHERiPTHR11062. PTHR11062. 1 hit.
    PfamiPF09258. Glyco_transf_64. 1 hit.
    [Graphical view]
    SUPFAMiSSF53448. SSF53448. 1 hit.

    Sequencei

    Sequence statusi: Complete.

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

    Q9UBQ6-1 [UniParc]FASTAAdd to Basket

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    MRCCHICKLP GRVMGIRVLR LSLVVILVLL LVAGALTALL PSVKEDKMLM    50
    LRREIKSQGK STMDSFTLIM QTYNRTDLLL KLLNHYQAVP NLHKVIVVWN 100
    NIGEKAPDEL WNSLGPHPIP VIFKQQTANR MRNRLQVFPE LETNAVLMVD 150
    DDTLISTPDL VFAFSVWQQF PDQIVGFVPR KHVSTSSGIY SYGSFEMQAP 200
    GSGNGDQYSM VLIGASFFNS KYLELFQRQP AAVHALIDDT QNCDDIAMNF 250
    IIAKHIGKTS GIFVKPVNMD NLEKETNSGY SGMWHRAEHA LQRSYCINKL 300
    VNIYDSMPLR YSNIMISQFG FPYANYKRKI 330
    Length:330
    Mass (Da):37,466
    Last modified:May 1, 2000 - v1
    Checksum:i6976BE7EC6F588C8
    GO

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AF000416 mRNA. Translation: AAC02898.1.
    AB009284 mRNA. Translation: BAA24081.1.
    AK312895 mRNA. Translation: BAG35742.1.
    CH471097 Genomic DNA. Translation: EAW72946.1.
    CH471097 Genomic DNA. Translation: EAW72948.1.
    CCDSiCCDS775.1.
    PIRiJC5935.
    RefSeqiNP_001028197.1. NM_001033025.2.
    NP_001430.1. NM_001439.3.
    XP_005270678.1. XM_005270621.1.
    UniGeneiHs.357637.

    Genome annotation databases

    EnsembliENST00000370113; ENSP00000359131; ENSG00000162694.
    ENST00000370114; ENSP00000359132; ENSG00000162694.
    GeneIDi2135.
    KEGGihsa:2135.
    UCSCiuc001dtk.2. human.

    Polymorphism databases

    DMDMi9296986.

    Cross-referencesi

    Web resourcesi

    GGDB

    GlycoGene database

    Functional Glycomics Gateway - GTase

    Exostosin-like 2

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AF000416 mRNA. Translation: AAC02898.1 .
    AB009284 mRNA. Translation: BAA24081.1 .
    AK312895 mRNA. Translation: BAG35742.1 .
    CH471097 Genomic DNA. Translation: EAW72946.1 .
    CH471097 Genomic DNA. Translation: EAW72948.1 .
    CCDSi CCDS775.1.
    PIRi JC5935.
    RefSeqi NP_001028197.1. NM_001033025.2.
    NP_001430.1. NM_001439.3.
    XP_005270678.1. XM_005270621.1.
    UniGenei Hs.357637.

    3D structure databases

    ProteinModelPortali Q9UBQ6.
    SMRi Q9UBQ6. Positions 63-327.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    STRINGi 9606.ENSP00000359131.

    Protein family/group databases

    CAZyi GT64. Glycosyltransferase Family 64.

    PTM databases

    PhosphoSitei Q9UBQ6.

    Polymorphism databases

    DMDMi 9296986.

    Proteomic databases

    MaxQBi Q9UBQ6.
    PaxDbi Q9UBQ6.
    PRIDEi Q9UBQ6.

    Protocols and materials databases

    DNASUi 2135.
    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000370113 ; ENSP00000359131 ; ENSG00000162694 .
    ENST00000370114 ; ENSP00000359132 ; ENSG00000162694 .
    GeneIDi 2135.
    KEGGi hsa:2135.
    UCSCi uc001dtk.2. human.

    Organism-specific databases

    CTDi 2135.
    GeneCardsi GC01M101337.
    HGNCi HGNC:3516. EXTL2.
    HPAi CAB020716.
    MIMi 602411. gene.
    neXtProti NX_Q9UBQ6.
    PharmGKBi PA27928.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG276916.
    HOGENOMi HOG000054215.
    HOVERGENi HBG051525.
    InParanoidi Q9UBQ6.
    KOi K02369.
    OMAi HICKLPG.
    OrthoDBi EOG7SV0VP.
    PhylomeDBi Q9UBQ6.
    TreeFami TF314231.

    Enzyme and pathway databases

    UniPathwayi UPA00756 .
    BioCyci MetaCyc:HS08719-MONOMER.

    Miscellaneous databases

    ChiTaRSi EXTL2. human.
    GeneWikii EXTL2.
    GenomeRNAii 2135.
    NextBioi 8627.
    PROi Q9UBQ6.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi Q9UBQ6.
    Bgeei Q9UBQ6.
    CleanExi HS_EXTL2.
    Genevestigatori Q9UBQ6.

    Family and domain databases

    Gene3Di 3.90.550.10. 1 hit.
    InterProi IPR004263. Exostosin.
    IPR015338. HexNAc_Trfase_a.
    IPR029044. Nucleotide-diphossugar_trans.
    [Graphical view ]
    PANTHERi PTHR11062. PTHR11062. 1 hit.
    Pfami PF09258. Glyco_transf_64. 1 hit.
    [Graphical view ]
    SUPFAMi SSF53448. SSF53448. 1 hit.
    ProtoNeti Search...

    Publicationsi

    1. "Identification and characterization of a novel member of the EXT gene family, EXTL2."
      Wuyts W., Van Hul W., Hendrickx J., Speleman F., Wauters J., De Boulle K., Van Roy N., Van Agtmael T., Bossuyt P., Willems P.J.
      Eur. J. Hum. Genet. 5:382-389(1997) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA].
    2. "Structure, chromosomal location, and expression profile of EXTR1 and EXTR2, new members of the multiple exostoses gene family."
      Saito T., Seki N., Yamauchi M., Tsuji S., Hayashi A., Kozuma S., Hori T.-A.
      Biochem. Biophys. Res. Commun. 243:61-66(1998) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA].
    3. "The putative tumor suppressors EXT1 and EXT2 form a stable complex that accumulates in the Golgi apparatus and catalyzes the synthesis of heparan sulfate."
      McCormick C., Duncan G., Goutsos K.T., Tufaro F.
      Proc. Natl. Acad. Sci. U.S.A. 97:668-673(2000) [PubMed] [Europe PMC] [Abstract]
      Cited for: SUBCELLULAR LOCATION.
    4. "The tumor suppressor EXT-like gene EXTL2 encodes an alpha1, 4-N-acetylhexosaminyltransferase that transfers N-acetylgalactosamine and N-acetylglucosamine to the common glycosaminoglycan-protein linkage region. The key enzyme for the chain initiation of heparan sulfate."
      Kitagawa H., Shimakawa H., Sugahara K.
      J. Biol. Chem. 274:13933-13937(1999) [PubMed] [Europe PMC] [Abstract]
      Cited for: FUNCTION, PROTEIN SEQUENCE OF 54-83.
    5. "Complete sequencing and characterization of 21,243 full-length human cDNAs."
      Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.
      , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.
      Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
      Tissue: Amygdala.
    6. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].

    Entry informationi

    Entry nameiEXTL2_HUMAN
    AccessioniPrimary (citable) accession number: Q9UBQ6
    Secondary accession number(s): B2R795, D3DT60
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: December 1, 2000
    Last sequence update: May 1, 2000
    Last modified: October 1, 2014
    This is version 125 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

    Keywords - Technical termi

    Complete proteome, Direct protein sequencing, Reference proteome

    Documents

    1. Human chromosome 1
      Human chromosome 1: entries, gene names and cross-references to MIM
    2. MIM cross-references
      Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
    3. PATHWAY comments
      Index of metabolic and biosynthesis pathways
    4. SIMILARITY comments
      Index of protein domains and families

    External Data

    Dasty 3