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Q5NDL2

- EOGT_HUMAN

UniProt

Q5NDL2 - EOGT_HUMAN

Protein

EGF domain-specific O-linked N-acetylglucosamine transferase

Gene

EOGT

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 76 (01 Oct 2014)
      Sequence version 1 (01 Feb 2005)
      Previous versions | rss
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    Functioni

    Catalyzes the transfer of a single N-acetylglucosamine from UDP-GlcNAc to a serine or threonine residue in extracellular proteins resulting in their modification with a beta-linked N-acetylglucosamine (O-GlcNAc). Specifically glycosylates the Thr residue located between the fifth and sixth conserved cysteines of folded EGF-like domains.1 Publication

    Catalytic activityi

    UDP-N-acetyl-D-glucosamine + [protein]-L-serine = UDP + [protein]-3-O-(N-acetyl-D-glucosaminyl)-L-serine.
    UDP-N-acetyl-D-glucosamine + [protein]-L-threonine = UDP + [protein]-3-O-(N-acetyl-D-glucosaminyl)-L-threonine.

    GO - Molecular functioni

    1. protein N-acetylglucosaminyltransferase activity Source: UniProtKB

    GO - Biological processi

    1. protein O-linked glycosylation Source: UniProtKB

    Keywords - Molecular functioni

    Glycosyltransferase, Transferase

    Protein family/group databases

    CAZyiGT61. Glycosyltransferase Family 61.

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    EGF domain-specific O-linked N-acetylglucosamine transferase (EC:2.4.1.255)
    Alternative name(s):
    Extracellular O-linked N-acetylglucosamine transferase
    Gene namesi
    Name:EOGT
    Synonyms:AER61, C3orf64, EOGT1
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 3

    Organism-specific databases

    HGNCiHGNC:28526. EOGT.

    Subcellular locationi

    Endoplasmic reticulum lumen PROSITE-ProRule annotation

    GO - Cellular componenti

    1. endoplasmic reticulum lumen Source: UniProtKB-SubCell

    Keywords - Cellular componenti

    Endoplasmic reticulum

    Pathology & Biotechi

    Involvement in diseasei

    Adams-Oliver syndrome 4 (AOS4) [MIM:615297]: A form of Adams-Oliver syndrome, a disorder characterized by the congenital absence of skin (aplasia cutis congenita) in combination with transverse limb defects. Aplasia cutis congenita can be located anywhere on the body, but in the vast majority of the cases, it is present on the posterior parietal region where it is often associated with an underlying defect of the parietal bones. Limb abnormalities are typically limb truncation defects affecting the distal phalanges or entire digits (true ectrodactyly). Only rarely, metatarsals/metacarpals or more proximal limb structures are also affected. Apart from transverse limb defects, syndactyly, most commonly of second and third toes, can also be observed. The clinical features are highly variable and can also include cardiovascular malformations, brain abnormalities and vascular defects such as cutis marmorata and dilated scalp veins.1 Publication
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti207 – 2071W → S in AOS4. 1 Publication
    VAR_070090
    Natural varianti377 – 3771R → Q in AOS4. 1 Publication
    VAR_070091

    Mutagenesis

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Mutagenesisi295 – 2973DYD → AYA: Partial loss of activity. 1 Publication

    Keywords - Diseasei

    Disease mutation

    Organism-specific databases

    MIMi615297. phenotype.
    Orphaneti974. Adams-Oliver syndrome.
    PharmGKBiPA143485338.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Signal peptidei1 – 1717Sequence AnalysisAdd
    BLAST
    Chaini18 – 527510EGF domain-specific O-linked N-acetylglucosamine transferasePRO_0000301970Add
    BLAST

    Amino acid modifications

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Glycosylationi354 – 3541N-linked (GlcNAc...)Sequence Analysis

    Keywords - PTMi

    Glycoprotein

    Proteomic databases

    MaxQBiQ5NDL2.
    PaxDbiQ5NDL2.
    PRIDEiQ5NDL2.

    PTM databases

    PhosphoSiteiQ5NDL2.

    Expressioni

    Gene expression databases

    ArrayExpressiQ5NDL2.
    BgeeiQ5NDL2.
    CleanExiHS_C3orf64.
    GenevestigatoriQ5NDL2.

    Organism-specific databases

    HPAiHPA019460.

    Interactioni

    Protein-protein interaction databases

    BioGridi130045. 3 interactions.
    IntActiQ5NDL2. 1 interaction.
    STRINGi9606.ENSP00000295571.

    Structurei

    3D structure databases

    ProteinModelPortaliQ5NDL2.
    ModBaseiSearch...
    MobiDBiSearch...

    Family & Domainsi

    Motif

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Motifi295 – 2973Required for optimal activity
    Motifi524 – 5274Prevents secretion from ERPROSITE-ProRule annotation

    Sequence similaritiesi

    Belongs to the glycosyltransferase 61 family.Curated

    Keywords - Domaini

    Signal

    Phylogenomic databases

    eggNOGiNOG320328.
    HOGENOMiHOG000033829.
    HOVERGENiHBG056678.
    InParanoidiQ5NDL2.
    KOiK18134.
    OMAiDSKRVCF.
    OrthoDBiEOG7D2FDQ.
    PhylomeDBiQ5NDL2.
    TreeFamiTF313716.

    Family and domain databases

    InterProiIPR007657. Glycosyltransferase_AER61.
    [Graphical view]
    PfamiPF04577. DUF563. 1 hit.
    [Graphical view]
    PROSITEiPS00014. ER_TARGET. 1 hit.
    [Graphical view]

    Sequences (3)i

    Sequence statusi: Complete.

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

    This entry describes 3 isoformsi produced by alternative splicing. Align

    Isoform 1 (identifier: Q5NDL2-1) [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

    MLMLFVFGVL LHEVSLSGQN EAPPNTHSIP GEPLYNYASI RLPEEHIPFF    50
    LHNNRHIATV CRKDSLCPYK KHLEKLKYCW GYEKSCKPEF RFGYPVCSYV 100
    DMGWTDTLES AEDIFWKQAD FGYARERLEE MHVLCQPKET SDSSLVCSRY 150
    LQYCRATNLY LDLRNIKRNH DRFKEDFFQS GEIGGHCKLD IRTLTSEGQR 200
    KSPLQSWFAE LQSYTQLNFR PIEDAKCDIV IEKPTYFMKL DAGVNMYHHF 250
    CDFINLYITQ HVNNSFSTDV YIVMWDTSSY GYGDLFSDTW NAFTDYDVIH 300
    LKTYDSKRVC FKEAVFSLLP RMRYGLFYNT PLISGCQNTG LFRAFAQHVL 350
    HRLNITQEGP KDGKIRVTIL ARSTEYRKIL NQNELVNALK TVSTFEVQIV 400
    DYKYRELGFL DQLRITHNTD IFIGMHGAGL THLLFLPDWA AVFELYNCED 450
    ERCYLDLARL RGVHYITWRR QNKVFPQDKG HHPTLGEHPK FTNYSFDVEE 500
    FMYLVLQAAD HVLQHPKWPF KKKHDEL 527
    Length:527
    Mass (Da):62,011
    Last modified:February 1, 2005 - v1
    Checksum:iC34D267187BFDDA9
    GO
    Isoform 2 (identifier: Q5NDL2-2) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         208-208: F → C
         209-527: Missing.

    Show »
    Length:208
    Mass (Da):24,403
    Checksum:i387DDF61D5A96C3A
    GO
    Isoform 3 (identifier: Q5NDL2-3) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         278-361: Missing.

    Note: No experimental confirmation available.

    Show »
    Length:443
    Mass (Da):52,297
    Checksum:iEB338AE6E854889F
    GO

    Sequence cautioni

    The sequence BAF83045.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.
    The sequence BAG57436.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti199 – 1991Q → R in BAC86479. (PubMed:14702039)Curated
    Sequence conflicti247 – 2471Y → C in CAE45897. (PubMed:17974005)Curated
    Sequence conflicti287 – 2871S → F in BAG57436. (PubMed:14702039)Curated

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti207 – 2071W → S in AOS4. 1 Publication
    VAR_070090
    Natural varianti377 – 3771R → Q in AOS4. 1 Publication
    VAR_070091

    Alternative sequence

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Alternative sequencei208 – 2081F → C in isoform 2. 1 PublicationVSP_027897
    Alternative sequencei209 – 527319Missing in isoform 2. 1 PublicationVSP_027898Add
    BLAST
    Alternative sequencei278 – 36184Missing in isoform 3. 1 PublicationVSP_027899Add
    BLAST

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    KC347596 mRNA. Translation: AGC92970.1.
    AJ868234 mRNA. Translation: CAI30569.1.
    AK126187 mRNA. Translation: BAC86479.1.
    AK290356 mRNA. Translation: BAF83045.1. Different initiation.
    AK294101 mRNA. Translation: BAG57436.1. Different initiation.
    AC109587 Genomic DNA. No translation available.
    BC060887 mRNA. Translation: AAH60887.1.
    BX640821 mRNA. Translation: CAE45897.2.
    CCDSiCCDS2908.1. [Q5NDL2-3]
    CCDS63684.1. [Q5NDL2-1]
    RefSeqiNP_001265618.1. NM_001278689.1. [Q5NDL2-1]
    NP_775925.1. NM_173654.2. [Q5NDL2-3]
    XP_005264800.1. XM_005264743.1. [Q5NDL2-1]
    XP_005264801.1. XM_005264744.1. [Q5NDL2-1]
    XP_006713174.1. XM_006713111.1. [Q5NDL2-1]
    UniGeneiHs.518059.

    Genome annotation databases

    EnsembliENST00000295571; ENSP00000295571; ENSG00000163378. [Q5NDL2-3]
    ENST00000383701; ENSP00000373206; ENSG00000163378. [Q5NDL2-1]
    ENST00000540764; ENSP00000443780; ENSG00000163378.
    GeneIDi285203.
    KEGGihsa:285203.
    UCSCiuc003dnk.3. human. [Q5NDL2-3]
    uc003dnl.3. human. [Q5NDL2-1]

    Polymorphism databases

    DMDMi74708096.

    Keywords - Coding sequence diversityi

    Alternative splicing

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    KC347596 mRNA. Translation: AGC92970.1 .
    AJ868234 mRNA. Translation: CAI30569.1 .
    AK126187 mRNA. Translation: BAC86479.1 .
    AK290356 mRNA. Translation: BAF83045.1 . Different initiation.
    AK294101 mRNA. Translation: BAG57436.1 . Different initiation.
    AC109587 Genomic DNA. No translation available.
    BC060887 mRNA. Translation: AAH60887.1 .
    BX640821 mRNA. Translation: CAE45897.2 .
    CCDSi CCDS2908.1. [Q5NDL2-3 ]
    CCDS63684.1. [Q5NDL2-1 ]
    RefSeqi NP_001265618.1. NM_001278689.1. [Q5NDL2-1 ]
    NP_775925.1. NM_173654.2. [Q5NDL2-3 ]
    XP_005264800.1. XM_005264743.1. [Q5NDL2-1 ]
    XP_005264801.1. XM_005264744.1. [Q5NDL2-1 ]
    XP_006713174.1. XM_006713111.1. [Q5NDL2-1 ]
    UniGenei Hs.518059.

    3D structure databases

    ProteinModelPortali Q5NDL2.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 130045. 3 interactions.
    IntActi Q5NDL2. 1 interaction.
    STRINGi 9606.ENSP00000295571.

    Protein family/group databases

    CAZyi GT61. Glycosyltransferase Family 61.

    PTM databases

    PhosphoSitei Q5NDL2.

    Polymorphism databases

    DMDMi 74708096.

    Proteomic databases

    MaxQBi Q5NDL2.
    PaxDbi Q5NDL2.
    PRIDEi Q5NDL2.

    Protocols and materials databases

    DNASUi 285203.
    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000295571 ; ENSP00000295571 ; ENSG00000163378 . [Q5NDL2-3 ]
    ENST00000383701 ; ENSP00000373206 ; ENSG00000163378 . [Q5NDL2-1 ]
    ENST00000540764 ; ENSP00000443780 ; ENSG00000163378 .
    GeneIDi 285203.
    KEGGi hsa:285203.
    UCSCi uc003dnk.3. human. [Q5NDL2-3 ]
    uc003dnl.3. human. [Q5NDL2-1 ]

    Organism-specific databases

    CTDi 285203.
    GeneCardsi GC03M069025.
    HGNCi HGNC:28526. EOGT.
    HPAi HPA019460.
    MIMi 614789. gene.
    615297. phenotype.
    neXtProti NX_Q5NDL2.
    Orphaneti 974. Adams-Oliver syndrome.
    PharmGKBi PA143485338.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG320328.
    HOGENOMi HOG000033829.
    HOVERGENi HBG056678.
    InParanoidi Q5NDL2.
    KOi K18134.
    OMAi DSKRVCF.
    OrthoDBi EOG7D2FDQ.
    PhylomeDBi Q5NDL2.
    TreeFami TF313716.

    Miscellaneous databases

    GenomeRNAii 285203.
    NextBioi 35463951.
    PROi Q5NDL2.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi Q5NDL2.
    Bgeei Q5NDL2.
    CleanExi HS_C3orf64.
    Genevestigatori Q5NDL2.

    Family and domain databases

    InterProi IPR007657. Glycosyltransferase_AER61.
    [Graphical view ]
    Pfami PF04577. DUF563. 1 hit.
    [Graphical view ]
    PROSITEi PS00014. ER_TARGET. 1 hit.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    1. "The EGF repeat-specific O-GlcNAc-transferase Eogt interacts with Notch signaling and pyrimidine metabolism pathways in Drosophila."
      Muller R., Jenny A., Stanley P.
      PLoS ONE 8:E62835-E62835(2013) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), FUNCTION, MUTAGENESIS OF 295-ASP--ASP-297.
      Tissue: Embryonic kidney.
    2. "Phylogeny of xylosyltransferases."
      Kiefer-Meyer M.C., Pagny S., Durambure G., Faye L., Gomord V., Mollicone R., Oriol R.
      Submitted (DEC-2004) to the EMBL/GenBank/DDBJ databases
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
    3. "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] (ISOFORM 2).
      Tissue: Brain cortex, Thymus and Tongue.
    4. "The DNA sequence, annotation and analysis of human chromosome 3."
      Muzny D.M., Scherer S.E., Kaul R., Wang J., Yu J., Sudbrak R., Buhay C.J., Chen R., Cree A., Ding Y., Dugan-Rocha S., Gill R., Gunaratne P., Harris R.A., Hawes A.C., Hernandez J., Hodgson A.V., Hume J.
      , Jackson A., Khan Z.M., Kovar-Smith C., Lewis L.R., Lozado R.J., Metzker M.L., Milosavljevic A., Miner G.R., Morgan M.B., Nazareth L.V., Scott G., Sodergren E., Song X.-Z., Steffen D., Wei S., Wheeler D.A., Wright M.W., Worley K.C., Yuan Y., Zhang Z., Adams C.Q., Ansari-Lari M.A., Ayele M., Brown M.J., Chen G., Chen Z., Clendenning J., Clerc-Blankenburg K.P., Chen R., Chen Z., Davis C., Delgado O., Dinh H.H., Dong W., Draper H., Ernst S., Fu G., Gonzalez-Garay M.L., Garcia D.K., Gillett W., Gu J., Hao B., Haugen E., Havlak P., He X., Hennig S., Hu S., Huang W., Jackson L.R., Jacob L.S., Kelly S.H., Kube M., Levy R., Li Z., Liu B., Liu J., Liu W., Lu J., Maheshwari M., Nguyen B.-V., Okwuonu G.O., Palmeiri A., Pasternak S., Perez L.M., Phelps K.A., Plopper F.J., Qiang B., Raymond C., Rodriguez R., Saenphimmachak C., Santibanez J., Shen H., Shen Y., Subramanian S., Tabor P.E., Verduzco D., Waldron L., Wang J., Wang J., Wang Q., Williams G.A., Wong G.K.-S., Yao Z., Zhang J., Zhang X., Zhao G., Zhou J., Zhou Y., Nelson D., Lehrach H., Reinhardt R., Naylor S.L., Yang H., Olson M., Weinstock G., Gibbs R.A.
      Nature 440:1194-1198(2006) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA] OF 102-527.
    5. "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 3).
      Tissue: Placenta.
    6. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 69-527 (ISOFORM 1).
      Tissue: Esophageal carcinoma.
    7. Cited for: VARIANTS AOS4 SER-207 AND GLN-377.

    Entry informationi

    Entry nameiEOGT_HUMAN
    AccessioniPrimary (citable) accession number: Q5NDL2
    Secondary accession number(s): A8K2U1
    , B4DFH5, L7X1M5, Q6MZY0, Q6P985, Q6ZTV0
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: September 11, 2007
    Last sequence update: February 1, 2005
    Last modified: October 1, 2014
    This is version 76 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, Reference proteome

    Documents

    1. Human chromosome 3
      Human chromosome 3: 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