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UniProtKB - Q5NDL2 (EOGT_HUMAN)

Entry version 114 (11 Dec 2019)
Sequence version 1 (01 Feb 2005)
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Protein

EGF domain-specific O-linked N-acetylglucosamine transferase

Gene

EOGT

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score:

Annotation score:5 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>-Experimental evidence at protein leveli <p>This indicates the type of evidence that supports the existence of the protein. Note that the ‘protein existence’ evidence does not give information on the accuracy or correctness of the sequence(s) displayed.<p><a href='/help/protein_existence' target='_top'>More...</a></p>

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>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

<p>This subsection of the <a href="http://www.uniprot.org/help/function_section">Function</a> section describes the catalytic activity of an enzyme, i.e. a chemical reaction that the enzyme catalyzes.<p><a href='/help/catalytic_activity' target='_top'>More...</a></p>Catalytic activityi

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Molecular functioni

Complete GO annotation on QuickGO ...

GO - Biological processi

Complete GO annotation on QuickGO ...

<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywordsi

Molecular functionGlycosyltransferase, Transferase

Protein family/group databases

Carbohydrate-Active enZymes

More...CAZyi		GT61 Glycosyltransferase Family 61

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>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
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: ‘Name’, ‘Synonyms’, ‘Ordered locus names’ and ‘ORF names’.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi
Name:EOGT
Synonyms:AER61, C3orf64, EOGT1
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the ‘taxonomic identifier’ or ‘taxid’.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes_manual">proteome</a> can consist of several components. <br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome 3

Organism-specific databases

Eukaryotic Pathogen Database Resources

More...EuPathDBi		HostDB:ENSG00000163378.13

Human Gene Nomenclature Database

More...HGNCi		HGNC:28526 EOGT

Online Mendelian Inheritance in Man (OMIM)

More...MIMi		614789 gene

neXtProt; the human protein knowledge platform

More...neXtProti		NX_Q5NDL2

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte & Seán O’Donoghue; Source: COMPARTMENTS

Keywords - Cellular componenti

Endoplasmic reticulum

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

<p>This subsection of the ‘Pathology and Biotech’ section provides information on the disease(s) associated with genetic variations in a given protein. The information is extracted from the scientific literature and diseases that are also described in the <a href="http://www.ncbi.nlm.nih.gov/sites/entrez?db=omim">OMIM</a> database are represented with a <a href="http://www.uniprot.org/diseases">controlled vocabulary</a> in the following way:<p><a href='/help/involvement_in_disease' target='_top'>More...</a></p>Involvement in diseasei

Adams-Oliver syndrome 4 (AOS4)1 Publication
The disease is caused by mutations 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 OMIM
Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_070090207W → S in AOS4. 1 PublicationCorresponds to variant dbSNP:rs587776993EnsemblClinVar.1
Natural variantiVAR_070091377R → Q in AOS4. 1 PublicationCorresponds to variant dbSNP:rs587776995EnsemblClinVar.1

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/manual/pathology_and_biotech_section">'Pathology and Biotech'</a> section describes the effect of the experimental mutation of one or more amino acid(s) on the biological properties of the protein.<p><a href='/help/mutagen' target='_top'>More...</a></p>Mutagenesisi295 – 297DYD → AYA: Partial loss of activity. 1 Publication3

Keywords - Diseasei

Disease mutation

Organism-specific databases

DisGeNET

More...DisGeNETi		285203

GeneReviews a resource of expert-authored, peer-reviewed disease descriptions.

More...GeneReviewsi		EOGT

MalaCards human disease database

More...MalaCardsi		EOGT
MIMi615297 phenotype

Open Targets

More...OpenTargetsi		ENSG00000163378

Orphanet; a database dedicated to information on rare diseases and orphan drugs

More...Orphaneti		974 Adams-Oliver syndrome

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...PharmGKBi		PA143485338

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...Pharosi		Q5NDL2 Tbio

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...BioMutai		EOGT

Domain mapping of disease mutations (DMDM)

More...DMDMi		74708096

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘PTM / Processing’ section denotes the presence of an N-terminal signal peptide.<p><a href='/help/signal' target='_top'>More...</a></p>Signal peptidei1 – 17Sequence analysisAdd BLAST17
<p>This subsection of the ‘PTM / Processing’ section describes the extent of a polypeptide chain in the mature protein following processing.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_000030197018 – 527EGF domain-specific O-linked N-acetylglucosamine transferaseAdd BLAST510

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/ptm_processing_section">PTM / Processing</a> section specifies the position and type of each covalently attached glycan group (mono-, di-, or polysaccharide).<p><a href='/help/carbohyd' target='_top'>More...</a></p>Glycosylationi354N-linked (GlcNAc...) asparagineSequence analysis1

Keywords - PTMi

Glycoprotein

Proteomic databases

Encyclopedia of Proteome Dynamics

More...EPDi		Q5NDL2

jPOST - Japan Proteome Standard Repository/Database

More...jPOSTi		Q5NDL2

MassIVE - Mass Spectrometry Interactive Virtual Environment

More...MassIVEi		Q5NDL2

MaxQB - The MaxQuant DataBase

More...MaxQBi		Q5NDL2

PaxDb, a database of protein abundance averages across all three domains of life

More...PaxDbi		Q5NDL2

PeptideAtlas

More...PeptideAtlasi		Q5NDL2

PRoteomics IDEntifications database

More...PRIDEi		Q5NDL2

ProteomicsDB: a multi-organism proteome resource

More...ProteomicsDBi		1853
63594 [Q5NDL2-1]
63595 [Q5NDL2-2]
63596 [Q5NDL2-3]

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...iPTMneti		Q5NDL2

Comprehensive resource for the study of protein post-translational modifications (PTMs) in human, mouse and rat.

More...PhosphoSitePlusi		Q5NDL2

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...Bgeei		ENSG00000163378 Expressed in 209 organ(s), highest expression level in left coronary artery

ExpressionAtlas, Differential and Baseline Expression

More...ExpressionAtlasi		Q5NDL2 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...Genevisiblei		Q5NDL2 HS

Organism-specific databases

Human Protein Atlas

More...HPAi		HPA019460

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

More...BioGridi		130045, 28 interactors

Protein interaction database and analysis system

More...IntActi		Q5NDL2, 23 interactors

STRING: functional protein association networks

More...STRINGi		9606.ENSP00000373206

Miscellaneous databases

RNAct, Protein-RNA interaction predictions for model organisms.

More...RNActi		Q5NDL2 protein

<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei

3D structure databases

SWISS-MODEL Repository - a database of annotated 3D protein structure models

More...SMRi		Q5NDL2

Database of comparative protein structure models

More...ModBasei		Search...

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

Motif

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Family and Domains’ section describes a short (usually not more than 20 amino acids) conserved sequence motif of biological significance.<p><a href='/help/motif' target='_top'>More...</a></p>Motifi295 – 297Required for optimal activity3
Motifi524 – 527Prevents secretion from ERPROSITE-ProRule annotation4

<p>This subsection of the ‘Family and domains’ section provides information about the sequence similarity with other proteins.<p><a href='/help/sequence_similarities' target='_top'>More...</a></p>Sequence similaritiesi

Belongs to the glycosyltransferase 61 family.Curated

Keywords - Domaini

Signal

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...eggNOGi		KOG4698 Eukaryota
ENOG410ZHQA LUCA

Ensembl GeneTree

More...GeneTreei		ENSGT00940000156493

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...HOGENOMi		HOG000033829

InParanoid: Eukaryotic Ortholog Groups

More...InParanoidi		Q5NDL2

KEGG Orthology (KO)

More...KOi		K18134

Identification of Orthologs from Complete Genome Data

More...OMAi		RFQTPQC

Database of Orthologous Groups

More...OrthoDBi		1234092at2759

Database for complete collections of gene phylogenies

More...PhylomeDBi		Q5NDL2

TreeFam database of animal gene trees

More...TreeFami		TF313716

Family and domain databases

Integrated resource of protein families, domains and functional sites

More...InterProi		View protein in InterPro
IPR007657 Glycosyltransferase_61

The PANTHER Classification System

More...PANTHERi		PTHR20961 PTHR20961, 1 hit

Pfam protein domain database

More...Pfami		View protein in Pfam
PF04577 DUF563, 1 hit

PROSITE; a protein domain and family database

More...PROSITEi		View protein in PROSITE
PS00014 ER_TARGET, 1 hit

<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence_length">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>. The information is filed in different subsections. The current subsections and their content are listed below:<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequences (3+)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>Sequence statusi: Complete.

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> displayed by default in the entry is in its mature form or if it represents the precursor.<p><a href='/help/sequence_processing' target='_top'>More...</a></p>Sequence processingi: The displayed sequence is further processed into a mature form.

This entry describes 3 <p>This subsection of the ‘Sequence’ section lists the alternative protein sequences (isoforms) that can be generated from the same gene by a single or by the combination of up to four biological events (alternative promoter usage, alternative splicing, alternative initiation and ribosomal frameshifting). Additionally, this section gives relevant information on each alternative protein isoform.<p><a href='/help/alternative_products' target='_top'>More...</a></p> isoformsi produced by alternative splicing. AlignAdd to basket

This 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 <div> <p><b>What is the canonical sequence?</b><p><a href='/help/canonical_and_isoforms' target='_top'>More...</a></p>canonicali 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
<p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> 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.

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

<p>In eukaryotic reference proteomes, unreviewed entries that are likely to belong to the same gene are computationally mapped, based on gene identifiers from Ensembl, EnsemblGenomes and model organism databases.<p><a href='/help/gene_centric_isoform_mapping' target='_top'>More...</a></p>Computationally mapped potential isoform sequencesi

There are 4 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
Q8N329Q8N329_HUMAN
C3orf64 protein
EOGT C3orf64
135Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
C9JQM7C9JQM7_HUMAN
EGF domain-specific O-linked N-acet...
EOGT
132Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
F5H225F5H225_HUMAN
EGF domain-specific O-linked N-acet...
EOGT
206Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
C9J4G5C9J4G5_HUMAN
EGF domain-specific O-linked N-acet...
EOGT
123Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>

<p>This subsection of the ‘Sequence’ section reports difference(s) between the protein sequence shown in the UniProtKB entry and other available protein sequences derived from the same gene.<p><a href='/help/sequence_caution' target='_top'>More...</a></p>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 keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section reports difference(s) between the canonical sequence (displayed by default in the entry) and the different sequence submissions merged in the entry. These various submissions may originate from different sequencing projects, different types of experiments, or different biological samples. Sequence conflicts are usually of unknown origin.<p><a href='/help/conflict' target='_top'>More...</a></p>Sequence conflicti199Q → R in BAC86479 (PubMed:14702039).Curated1
Sequence conflicti247Y → C in CAE45897 (PubMed:17974005).Curated1
Sequence conflicti287S → F in BAG57436 (PubMed:14702039).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_070090207W → S in AOS4. 1 PublicationCorresponds to variant dbSNP:rs587776993EnsemblClinVar.1
Natural variantiVAR_070091377R → Q in AOS4. 1 PublicationCorresponds to variant dbSNP:rs587776995EnsemblClinVar.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section describes the sequence of naturally occurring alternative protein isoform(s). The changes in the amino acid sequence may be due to alternative splicing, alternative promoter usage, alternative initiation, or ribosomal frameshifting.<p><a href='/help/var_seq' target='_top'>More...</a></p>Alternative sequenceiVSP_027897208F → C in isoform 2. 1 Publication1
Alternative sequenceiVSP_027898209 – 527Missing in isoform 2. 1 PublicationAdd BLAST319
Alternative sequenceiVSP_027899278 – 361Missing in isoform 3. 1 PublicationAdd BLAST84

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

More...EMBLi

GenBank nucleotide sequence database

More...GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...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

The Consensus CDS (CCDS) project

More...CCDSi		CCDS2908.1 [Q5NDL2-3]
CCDS63684.1 [Q5NDL2-1]

NCBI Reference Sequences

More...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

Ensembl eukaryotic genome annotation project

More...Ensembli		ENST00000295571; ENSP00000295571; ENSG00000163378 [Q5NDL2-3]
ENST00000383701; ENSP00000373206; ENSG00000163378 [Q5NDL2-1]
ENST00000540764; ENSP00000443780; ENSG00000163378 [Q5NDL2-1]
ENST00000540955; ENSP00000444264; ENSG00000163378 [Q5NDL2-3]

Database of genes from NCBI RefSeq genomes

More...GeneIDi		285203

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...KEGGi		hsa:285203

UCSC genome browser

More...UCSCi		uc003dnk.5 human [Q5NDL2-1]

Keywords - Coding sequence diversityi

Alternative splicing

<p>This section provides links to proteins that are similar to the protein sequence(s) described in this entry at different levels of sequence identity thresholds (100%, 90% and 50%) based on their membership in UniProt Reference Clusters (<a href="http://www.uniprot.org/help/uniref">UniRef</a>).<p><a href='/help/similar_proteins_section' target='_top'>More...</a></p>Similar proteinsi

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>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
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_005264743.2 [Q5NDL2-1]
XP_016861694.1, XM_017006205.1 [Q5NDL2-1]
XP_016861695.1, XM_017006206.1 [Q5NDL2-1]

3D structure databases

SMRiQ5NDL2
ModBaseiSearch...

Protein-protein interaction databases

BioGridi130045, 28 interactors
IntActiQ5NDL2, 23 interactors
STRINGi9606.ENSP00000373206

Protein family/group databases

CAZyiGT61 Glycosyltransferase Family 61

PTM databases

iPTMnetiQ5NDL2
PhosphoSitePlusiQ5NDL2

Polymorphism and mutation databases

BioMutaiEOGT
DMDMi74708096

Proteomic databases

EPDiQ5NDL2
jPOSTiQ5NDL2
MassIVEiQ5NDL2
MaxQBiQ5NDL2
PaxDbiQ5NDL2
PeptideAtlasiQ5NDL2
PRIDEiQ5NDL2
ProteomicsDBi1853
63594 [Q5NDL2-1]
63595 [Q5NDL2-2]
63596 [Q5NDL2-3]

Protocols and materials databases

The DNASU plasmid repository

More...DNASUi		285203

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.5 human [Q5NDL2-1]

Organism-specific databases

Comparative Toxicogenomics Database

More...CTDi		285203
DisGeNETi285203
EuPathDBiHostDB:ENSG00000163378.13

GeneCards: human genes, protein and diseases

More...GeneCardsi		EOGT
GeneReviewsiEOGT
HGNCiHGNC:28526 EOGT
HPAiHPA019460
MalaCardsiEOGT
MIMi614789 gene
615297 phenotype
neXtProtiNX_Q5NDL2
OpenTargetsiENSG00000163378
Orphaneti974 Adams-Oliver syndrome
PharmGKBiPA143485338

GenAtlas: human gene database

More...GenAtlasi		Search...

Phylogenomic databases

eggNOGiKOG4698 Eukaryota
ENOG410ZHQA LUCA
GeneTreeiENSGT00940000156493
HOGENOMiHOG000033829
InParanoidiQ5NDL2
KOiK18134
OMAiRFQTPQC
OrthoDBi1234092at2759
PhylomeDBiQ5NDL2
TreeFamiTF313716

Miscellaneous databases

ChiTaRS: a database of human, mouse and fruit fly chimeric transcripts and RNA-sequencing data

More...ChiTaRSi		EOGT human

Database of phenotypes from RNA interference screens in Drosophila and Homo sapiens

More...GenomeRNAii		285203
PharosiQ5NDL2 Tbio

Protein Ontology

More...PROi		PR:Q5NDL2
RNActiQ5NDL2 protein

The Stanford Online Universal Resource for Clones and ESTs

More...SOURCEi		Search...

Gene expression databases

BgeeiENSG00000163378 Expressed in 209 organ(s), highest expression level in left coronary artery
ExpressionAtlasiQ5NDL2 baseline and differential
GenevisibleiQ5NDL2 HS

Family and domain databases

InterProiView protein in InterPro
IPR007657 Glycosyltransferase_61
PANTHERiPTHR20961 PTHR20961, 1 hit
PfamiView protein in Pfam
PF04577 DUF563, 1 hit
PROSITEiView protein in PROSITE
PS00014 ER_TARGET, 1 hit

ProtoNet; Automatic hierarchical classification of proteins

More...ProtoNeti		Search...

MobiDB: a database of protein disorder and mobility annotations

More...MobiDBi		Search...

<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

<p>This subsection of the ‘Entry information’ section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.<p><a href='/help/entry_name' target='_top'>More...</a></p>Entry nameiEOGT_HUMAN
<p>This subsection of the ‘Entry information’ section provides one or more accession number(s). These are stable identifiers and should be used to cite UniProtKB entries. Upon integration into UniProtKB, each entry is assigned a unique accession number, which is called ‘Primary (citable) accession number’.<p><a href='/help/accession_numbers' target='_top'>More...</a></p>AccessioniPrimary (citable) accession number: Q5NDL2
Secondary accession number(s): A8K2U1
, B4DFH5, L7X1M5, Q6MZY0, Q6P985, Q6ZTV0
<p>This subsection of the ‘Entry information’ section shows the date of integration of the entry into UniProtKB, the date of the last sequence update and the date of the last annotation modification (‘Last modified’). The version number for both the entry and the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: September 11, 2007
Last sequence update: February 1, 2005
Last modified: December 11, 2019
This is version 114 of the entry and version 1 of the sequence. See complete history.
<p>This subsection of the ‘Entry information’ section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>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.

<p>This section contains any relevant information that doesn’t fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>Miscellaneousi

Keywords - Technical termi

Reference proteome

Documents

  1. SIMILARITY comments
    Index of protein domains and families
  2. Human chromosome 3
    Human chromosome 3: entries, gene names and cross-references to MIM
  3. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  4. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  5. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
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