UniProtKB - Q5NDL2 (EOGT_HUMAN)
Protein
EGF domain-specific O-linked N-acetylglucosamine transferase
Gene
EOGT
Organism
Homo sapiens (Human)
Status
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
- L-seryl-[protein] + UDP-N-acetyl-α-D-glucosamine = 3-O-(N-acetyl-β-D-glucosaminyl)-L-seryl-[protein] + H+ + UDPBy similarityEC:2.4.1.255By similarity
- L-threonyl-[protein] + UDP-N-acetyl-α-D-glucosamine = 3-O-(N-acetyl-β-D-glucosaminyl)-L-threonyl-[protein] + H+ + UDPBy similarityEC:2.4.1.255By similarity
GO - Molecular functioni
- protein N-acetylglucosaminyltransferase activity Source: UniProtKB
- protein O-GlcNAc transferase activity Source: UniProtKB-EC
- transferase activity, transferring glycosyl groups Source: GO_Central
GO - Biological processi
- protein O-GlcNAcylation via threonine Source: GO_Central
- protein O-linked glycosylation Source: UniProtKB
Keywordsi
Molecular function | Glycosyltransferase, Transferase |
Enzyme and pathway databases
PathwayCommonsi | Q5NDL2 |
Protein family/group databases
CAZyi | GT61, Glycosyltransferase Family 61 |
Names & Taxonomyi
Protein namesi | Recommended name: EGF domain-specific O-linked N-acetylglucosamine transferase (EC:2.4.1.255By similarity)Alternative name(s): Extracellular O-linked N-acetylglucosamine transferase |
Gene namesi | Name:EOGT Synonyms:AER61, C3orf64, EOGT1 |
Organismi | Homo sapiens (Human) |
Taxonomic identifieri | 9606 [NCBI] |
Taxonomic lineagei | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Proteomesi |
|
Organism-specific databases
HGNCi | HGNC:28526, EOGT |
MIMi | 614789, gene |
neXtProti | NX_Q5NDL2 |
VEuPathDBi | HostDB:ENSG00000163378.13 |
Subcellular locationi
Endoplasmic reticulum
- Endoplasmic reticulum lumen PROSITE-ProRule annotation
Endoplasmic reticulum
- endoplasmic reticulum lumen Source: GO_Central
Keywords - Cellular componenti
Endoplasmic reticulumPathology & Biotechi
Involvement in diseasei
Adams-Oliver syndrome 4 (AOS4)1 Publication
The disease is caused by variants affecting the gene represented in this entry.
Disease descriptionA 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.
Related information in OMIMFeature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_070090 | 207 | W → S in AOS4. 1 PublicationCorresponds to variant dbSNP:rs587776993EnsemblClinVar. | 1 | |
Natural variantiVAR_070091 | 377 | R → Q in AOS4. 1 PublicationCorresponds to variant dbSNP:rs587776995EnsemblClinVar. | 1 |
Mutagenesis
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Mutagenesisi | 295 – 297 | DYD → AYA: Partial loss of activity. 1 Publication | 3 |
Keywords - Diseasei
Disease variantOrganism-specific databases
DisGeNETi | 285203 |
GeneReviewsi | EOGT |
MalaCardsi | EOGT |
MIMi | 615297, phenotype |
OpenTargetsi | ENSG00000163378 |
Orphaneti | 974, Adams-Oliver syndrome |
PharmGKBi | PA143485338 |
Miscellaneous databases
Pharosi | Q5NDL2, Tbio |
Genetic variation databases
BioMutai | EOGT |
DMDMi | 74708096 |
PTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Signal peptidei | 1 – 17 | Sequence analysisAdd BLAST | 17 | |
ChainiPRO_0000301970 | 18 – 527 | EGF domain-specific O-linked N-acetylglucosamine transferaseAdd BLAST | 510 |
Amino acid modifications
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Glycosylationi | 354 | N-linked (GlcNAc...) asparagineSequence analysis | 1 |
Keywords - PTMi
GlycoproteinProteomic databases
EPDi | Q5NDL2 |
jPOSTi | Q5NDL2 |
MassIVEi | Q5NDL2 |
MaxQBi | Q5NDL2 |
PaxDbi | Q5NDL2 |
PeptideAtlasi | Q5NDL2 |
PRIDEi | Q5NDL2 |
ProteomicsDBi | 1853 63594 [Q5NDL2-1] 63595 [Q5NDL2-2] 63596 [Q5NDL2-3] |
PTM databases
GlyGeni | Q5NDL2, 1 site |
iPTMneti | Q5NDL2 |
PhosphoSitePlusi | Q5NDL2 |
Expressioni
Gene expression databases
Bgeei | ENSG00000163378, Expressed in left coronary artery and 220 other tissues |
ExpressionAtlasi | Q5NDL2, baseline and differential |
Genevisiblei | Q5NDL2, HS |
Organism-specific databases
HPAi | ENSG00000163378, Low tissue specificity |
Interactioni
Binary interactionsi
Hide detailsIsoform 3 [Q5NDL2-3]
With | #Exp. | IntAct |
---|---|---|
FAM209A [Q5JX71] | 3 | EBI-13052900,EBI-18304435 |
SLC13A4 [Q9UKG4] | 3 | EBI-13052900,EBI-12808018 |
SLC7A14 [Q8TBB6] | 3 | EBI-13052900,EBI-5235586 |
Protein-protein interaction databases
BioGRIDi | 130045, 33 interactors |
IntActi | Q5NDL2, 23 interactors |
STRINGi | 9606.ENSP00000373206 |
Miscellaneous databases
RNActi | Q5NDL2, protein |
Family & Domainsi
Motif
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Motifi | 295 – 297 | Required for optimal activity | 3 | |
Motifi | 524 – 527 | Prevents secretion from ERPROSITE-ProRule annotation | 4 |
Sequence similaritiesi
Belongs to the glycosyltransferase 61 family.Curated
Keywords - Domaini
SignalPhylogenomic databases
eggNOGi | KOG4698, Eukaryota |
GeneTreei | ENSGT00940000156493 |
HOGENOMi | CLU_039300_0_0_1 |
InParanoidi | Q5NDL2 |
OMAi | DFGYIQE |
OrthoDBi | 567582at2759 |
PhylomeDBi | Q5NDL2 |
TreeFami | TF313716 |
Family and domain databases
InterProi | View protein in InterPro IPR007657, Glycosyltransferase_61 |
PANTHERi | PTHR20961, PTHR20961, 1 hit |
Pfami | View protein in Pfam PF04577, DUF563, 1 hit |
PROSITEi | View protein in PROSITE PS00014, ER_TARGET, 1 hit |
s (3+)i Sequence
Sequence statusi: Complete.
: The displayed sequence is further processed into a mature form. Sequence processingi
This entry describes 3 produced by isoformsialternative splicing. AlignAdd to basketThis entry has 3 described isoforms and 4 potential isoforms that are computationally mapped.Show allAlign All
Isoform 1 (identifier: Q5NDL2-1) [UniParc]FASTAAdd to basket
This isoform has been chosen as the sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry. canonicali
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
Computationally mapped potential isoform sequencesi
There are 4 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basketF5H225 | F5H225_HUMAN | EGF domain-specific O-linked N-acet... | EOGT | 206 | Annotation score: | ||
Q8N329 | Q8N329_HUMAN | C3orf64 protein | EOGT C3orf64 | 135 | Annotation score: | ||
C9J4G5 | C9J4G5_HUMAN | EGF domain-specific O-linked N-acet... | EOGT | 123 | Annotation score: | ||
C9JQM7 | C9JQM7_HUMAN | EGF domain-specific O-linked N-acet... | EOGT | 132 | Annotation score: |
Sequence cautioni
The sequence BAF83045 differs from that shown. Reason: Erroneous initiation. Truncated N-terminus.Curated
The sequence BAG57436 differs from that shown. Reason: Erroneous initiation. Truncated N-terminus.Curated
Experimental Info
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Sequence conflicti | 199 | Q → R in BAC86479 (PubMed:14702039).Curated | 1 | |
Sequence conflicti | 247 | Y → C in CAE45897 (PubMed:17974005).Curated | 1 | |
Sequence conflicti | 287 | S → F in BAG57436 (PubMed:14702039).Curated | 1 |
Natural variant
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_070090 | 207 | W → S in AOS4. 1 PublicationCorresponds to variant dbSNP:rs587776993EnsemblClinVar. | 1 | |
Natural variantiVAR_070091 | 377 | R → Q in AOS4. 1 PublicationCorresponds to variant dbSNP:rs587776995EnsemblClinVar. | 1 |
Alternative sequence
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Alternative sequenceiVSP_027897 | 208 | F → C in isoform 2. 1 Publication | 1 | |
Alternative sequenceiVSP_027898 | 209 – 527 | Missing in isoform 2. 1 PublicationAdd BLAST | 319 | |
Alternative sequenceiVSP_027899 | 278 – 361 | Missing in isoform 3. 1 PublicationAdd BLAST | 84 |
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_005264743.2 [Q5NDL2-1] XP_016861694.1, XM_017006205.1 [Q5NDL2-1] XP_016861695.1, XM_017006206.1 [Q5NDL2-1] |
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.5, human [Q5NDL2-1] |
Keywords - Coding sequence diversityi
Alternative splicingSimilar proteinsi
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_005264743.2 [Q5NDL2-1] XP_016861694.1, XM_017006205.1 [Q5NDL2-1] XP_016861695.1, XM_017006206.1 [Q5NDL2-1] |
3D structure databases
SMRi | Q5NDL2 |
ModBasei | Search... |
Protein-protein interaction databases
BioGRIDi | 130045, 33 interactors |
IntActi | Q5NDL2, 23 interactors |
STRINGi | 9606.ENSP00000373206 |
Protein family/group databases
CAZyi | GT61, Glycosyltransferase Family 61 |
PTM databases
GlyGeni | Q5NDL2, 1 site |
iPTMneti | Q5NDL2 |
PhosphoSitePlusi | Q5NDL2 |
Genetic variation databases
BioMutai | EOGT |
DMDMi | 74708096 |
Proteomic databases
EPDi | Q5NDL2 |
jPOSTi | Q5NDL2 |
MassIVEi | Q5NDL2 |
MaxQBi | Q5NDL2 |
PaxDbi | Q5NDL2 |
PeptideAtlasi | Q5NDL2 |
PRIDEi | Q5NDL2 |
ProteomicsDBi | 1853 63594 [Q5NDL2-1] 63595 [Q5NDL2-2] 63596 [Q5NDL2-3] |
Protocols and materials databases
Antibodypediai | 15479, 47 antibodies |
DNASUi | 285203 |
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.5, human [Q5NDL2-1] |
Organism-specific databases
CTDi | 285203 |
DisGeNETi | 285203 |
GeneCardsi | EOGT |
GeneReviewsi | EOGT |
HGNCi | HGNC:28526, EOGT |
HPAi | ENSG00000163378, Low tissue specificity |
MalaCardsi | EOGT |
MIMi | 614789, gene 615297, phenotype |
neXtProti | NX_Q5NDL2 |
OpenTargetsi | ENSG00000163378 |
Orphaneti | 974, Adams-Oliver syndrome |
PharmGKBi | PA143485338 |
VEuPathDBi | HostDB:ENSG00000163378.13 |
GenAtlasi | Search... |
Phylogenomic databases
eggNOGi | KOG4698, Eukaryota |
GeneTreei | ENSGT00940000156493 |
HOGENOMi | CLU_039300_0_0_1 |
InParanoidi | Q5NDL2 |
OMAi | DFGYIQE |
OrthoDBi | 567582at2759 |
PhylomeDBi | Q5NDL2 |
TreeFami | TF313716 |
Enzyme and pathway databases
PathwayCommonsi | Q5NDL2 |
Miscellaneous databases
BioGRID-ORCSi | 285203, 5 hits in 874 CRISPR screens |
ChiTaRSi | EOGT, human |
GenomeRNAii | 285203 |
Pharosi | Q5NDL2, Tbio |
PROi | PR:Q5NDL2 |
RNActi | Q5NDL2, protein |
SOURCEi | Search... |
Gene expression databases
Bgeei | ENSG00000163378, Expressed in left coronary artery and 220 other tissues |
ExpressionAtlasi | Q5NDL2, baseline and differential |
Genevisiblei | Q5NDL2, HS |
Family and domain databases
InterProi | View protein in InterPro IPR007657, Glycosyltransferase_61 |
PANTHERi | PTHR20961, PTHR20961, 1 hit |
Pfami | View protein in Pfam PF04577, DUF563, 1 hit |
PROSITEi | View protein in PROSITE PS00014, ER_TARGET, 1 hit |
ProtoNeti | Search... |
MobiDBi | Search... |
Entry informationi
Entry namei | EOGT_HUMAN | |
Accessioni | Q5NDL2Primary (citable) accession number: Q5NDL2 Secondary accession number(s): A8K2U1 Q6ZTV0 | |
Entry historyi | Integrated into UniProtKB/Swiss-Prot: | September 11, 2007 |
Last sequence update: | February 1, 2005 | |
Last modified: | February 10, 2021 | |
This is version 121 of the entry and version 1 of the sequence. See complete history. | ||
Entry statusi | Reviewed (UniProtKB/Swiss-Prot) | |
Annotation program | Chordata Protein Annotation Program | |
Disclaimer | Any 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
Reference proteomeDocuments
- Human entries with genetic variants
List of human entries with genetic variants - Human variants curated from literature reports
Index of human variants curated from literature reports - MIM cross-references
Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot - SIMILARITY comments
Index of protein domains and families - Human chromosome 3
Human chromosome 3: entries, gene names and cross-references to MIM