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Q5NDL2

- EOGT_HUMAN

UniProt

Q5NDL2 - EOGT_HUMAN

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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

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
Complete GO annotation...

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 Source: UniProtKB-KW
Complete GO annotation...

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

BgeeiQ5NDL2.
CleanExiHS_C3orf64.
ExpressionAtlasiQ5NDL2. baseline and differential.
GenevestigatoriQ5NDL2.

Organism-specific databases

HPAiHPA019460.

Interactioni

Protein-protein interaction databases

BioGridi130045. 7 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.
GeneTreeiENSGT00770000120599.
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

        10         20         30         40         50
MLMLFVFGVL LHEVSLSGQN EAPPNTHSIP GEPLYNYASI RLPEEHIPFF
60 70 80 90 100
LHNNRHIATV CRKDSLCPYK KHLEKLKYCW GYEKSCKPEF RFGYPVCSYV
110 120 130 140 150
DMGWTDTLES AEDIFWKQAD FGYARERLEE MHVLCQPKET SDSSLVCSRY
160 170 180 190 200
LQYCRATNLY LDLRNIKRNH DRFKEDFFQS GEIGGHCKLD IRTLTSEGQR
210 220 230 240 250
KSPLQSWFAE LQSYTQLNFR PIEDAKCDIV IEKPTYFMKL DAGVNMYHHF
260 270 280 290 300
CDFINLYITQ HVNNSFSTDV YIVMWDTSSY GYGDLFSDTW NAFTDYDVIH
310 320 330 340 350
LKTYDSKRVC FKEAVFSLLP RMRYGLFYNT PLISGCQNTG LFRAFAQHVL
360 370 380 390 400
HRLNITQEGP KDGKIRVTIL ARSTEYRKIL NQNELVNALK TVSTFEVQIV
410 420 430 440 450
DYKYRELGFL DQLRITHNTD IFIGMHGAGL THLLFLPDWA AVFELYNCED
460 470 480 490 500
ERCYLDLARL RGVHYITWRR QNKVFPQDKG HHPTLGEHPK FTNYSFDVEE
510 520
FMYLVLQAAD HVLQHPKWPF KKKHDEL
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.Curated
The sequence BAG57436.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.Curated

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:
EMBLi
GenBanki
DDBJi
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. [Q5NDL2-1]
ENST00000540955; ENSP00000444264; ENSG00000163378. [Q5NDL2-3]
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:
EMBLi
GenBanki
DDBJi
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. 7 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 . [Q5NDL2-1 ]
ENST00000540955 ; ENSP00000444264 ; ENSG00000163378 . [Q5NDL2-3 ]
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.
GeneTreei ENSGT00770000120599.
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

Bgeei Q5NDL2.
CleanExi HS_C3orf64.
ExpressionAtlasi Q5NDL2. baseline and differential.
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

« Hide 'large scale' publications
  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: November 26, 2014
This is version 78 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