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Entry version 170 (29 Sep 2021)
Sequence version 2 (02 Nov 2010)
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Protein

Protein O-linked-mannose beta-1,2-N-acetylglucosaminyltransferase 1

Gene

POMGNT1

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

Participates in O-mannosyl glycosylation by catalyzing the addition of N-acetylglucosamine to O-linked mannose on glycoproteins (PubMed:11709191, PubMed:27493216, PubMed:28512129).

Catalyzes the synthesis of the GlcNAc(beta1-2)Man(alpha1-)O-Ser/Thr moiety on alpha-dystroglycan and other O-mannosylated proteins, providing the necessary basis for the addition of further carbohydrate moieties (PubMed:11709191, PubMed:27493216).

Is specific for alpha linked terminal mannose and does not have MGAT3, MGAT4, MGAT5, MGAT7 or MGAT8 activity.

6 Publications

<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>This subsection of the 'Function' section provides information relevant to cofactors. A cofactor is any non-protein substance required for a protein to be catalytically active. Some cofactors are inorganic, such as the metal atoms zinc, iron, and copper in various oxidation states. Others, such as most vitamins, are organic.<p><a href='/help/cofactor' target='_top'>More...</a></p>Cofactori

Mn2+1 Publication1 PublicationNote: The manganese ion interacts primarily with the substrate UDP-N-acetylglucosamine.1 Publication

<p>This subsection of the 'Function' section describes biophysical and chemical properties, such as maximal absorption, kinetic parameters, pH dependence, redox potentials and temperature dependence.<p><a href='/help/biophysicochemical_properties' target='_top'>More...</a></p>Kineticsi

  1. KM=1.85 mM for mannosylpeptide2 Publications
  2. KM=0.73 mM for UDP-GlcNAc2 Publications
  3. KM=30 mM for Man(alpha1-)O-benzyl2 Publications
  4. KM=12 mM for CYA[Man(alpha1-)O-T]AV2 Publications

pH dependencei

Optimum pH is 6.0.2 Publications

<p>This subsection of the <a href="http://www.uniprot.org/help/function_section">'Function'</a> section describes the metabolic pathway(s) associated with a protein.<p><a href='/help/pathway' target='_top'>More...</a></p>Pathwayi: protein glycosylation

This protein is involved in the pathway protein glycosylation, which is part of Protein modification.5 Publications
View all proteins of this organism that are known to be involved in the pathway protein glycosylation and in Protein modification.

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/function_section">Function</a> section describes the interaction between a single amino acid and another chemical entity. Priority is given to the annotation of physiological ligands.<p><a href='/help/binding' target='_top'>More...</a></p>Binding sitei129Carbohydrate1 Publication1
Binding sitei179Carbohydrate1 Publication1
Binding sitei207Carbohydrate1 Publication1
Binding sitei338UDP-GlcNAcCombined sources1 Publication1
Binding sitei371UDP-GlcNAcCombined sources1 Publication1
<p>This subsection of the <a href="http://www.uniprot.org/help/function_section">Function</a> section indicates at which position the protein binds a given metal ion. The nature of the metal is indicated in the 'Description' field.<p><a href='/help/metal' target='_top'>More...</a></p>Metal bindingi395ManganeseCombined sources1 Publication1
Metal bindingi500ManganeseCombined sources1 Publication1

Regions

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/function_section">Function</a> section describes a region in the protein which binds nucleotide phosphates. It always involves more than one amino acid and includes all residues involved in nucleotide-binding.<p><a href='/help/np_bind' target='_top'>More...</a></p>Nucleotide bindingi307 – 311UDP-GlcNAcCombined sources1 Publication5
Nucleotide bindingi394 – 395UDP-GlcNAcCombined sources1 Publication2
Nucleotide bindingi506 – 507UDP-GlcNAcCombined sources1 Publication2

<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

GO - Biological processi

<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
LigandManganese, Metal-binding

Enzyme and pathway databases

BioCyc Collection of Pathway/Genome Databases

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BioCyci
MetaCyc:ENSG00000085998-MONOMER

Pathway Commons web resource for biological pathway data

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PathwayCommonsi
Q8WZA1

Reactome - a knowledgebase of biological pathways and processes

More...
Reactomei
R-HSA-5083628, Defective POMGNT1 causes MDDGA3, MDDGB3 and MDDGC3
R-HSA-5173105, O-linked glycosylation

SIGNOR Signaling Network Open Resource

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SIGNORi
Q8WZA1

UniPathway: a resource for the exploration and annotation of metabolic pathways

More...
UniPathwayi
UPA00378

Protein family/group databases

Carbohydrate-Active enZymes

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CAZyi
GT13, Glycosyltransferase Family 13

<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:
Protein O-linked-mannose beta-1,2-N-acetylglucosaminyltransferase 1 (EC:2.4.1.-6 Publications)
Short name:
POMGnT1
Alternative name(s):
UDP-GlcNAc:alpha-D-mannoside beta-1,2-N-acetylglucosaminyltransferase I.2
Short name:
GnT I.2
<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:POMGNT1
Synonyms:MGAT1.2
ORF Names:UNQ746/PRO1475
<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 lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
<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 1

Organism-specific databases

Human Gene Nomenclature Database

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HGNCi
HGNC:19139, POMGNT1

Online Mendelian Inheritance in Man (OMIM)

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MIMi
606822, gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_Q8WZA1

Eukaryotic Pathogen, Vector and Host Database Resources

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VEuPathDBi
HostDB:ENSG00000085998

<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

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/subcellular_location_section">'Subcellular location'</a> section describes the subcellular compartment where each non-membrane region of a membrane-spanning protein is found.<p><a href='/help/topo_dom' target='_top'>More...</a></p>Topological domaini1 – 37CytoplasmicSequence analysisAdd BLAST37
<p>This subsection of the <a href="http://www.uniprot.org/help/subcellular_location_section">'Subcellular location'</a> section describes the extent of a membrane-spanning region of the protein. It denotes the presence of both alpha-helical transmembrane regions and the membrane spanning regions of beta-barrel transmembrane proteins.<p><a href='/help/transmem' target='_top'>More...</a></p>Transmembranei38 – 58Helical; Signal-anchor for type II membrane proteinSequence analysisAdd BLAST21
Topological domaini59 – 660Lumenal1 PublicationAdd BLAST602

Keywords - Cellular componenti

Golgi apparatus, Membrane

<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

Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A3 (MDDGA3)8 Publications
The disease is caused by variants affecting the gene represented in this entry.
Disease descriptionAn autosomal recessive disorder characterized by congenital muscular dystrophy, ocular abnormalities, cobblestone lissencephaly, and cerebellar and pontine hypoplasia. Patients present severe congenital myopia, congenital glaucoma, pallor of the optic disks, retinal hypoplasia, mental retardation, hydrocephalus, abnormal electroencephalograms, generalized muscle weakness and myoclonic jerks. Included diseases are the more severe Walker-Warburg syndrome and the slightly less severe muscle-eye-brain disease.
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_065021176T → P in MDDGA3. 1 PublicationCorresponds to variant dbSNP:rs386834030EnsemblClinVar.1
Natural variantiVAR_065022198S → R in MDDGA3. 1 PublicationCorresponds to variant dbSNP:rs386834032EnsemblClinVar.1
Natural variantiVAR_023101223E → K in MDDGA3; specific activity abolished in the membrane bound form but not the soluble form. 3 PublicationsCorresponds to variant dbSNP:rs386834036EnsemblClinVar.1
Natural variantiVAR_023102265R → H in MDDGA3; found on the same allele as Q-311; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs386834010EnsemblClinVar.1
Natural variantiVAR_023103269C → Y in MDDGA3; specific activity abolished of the membrane bound form but not the soluble form. 3 PublicationsCorresponds to variant dbSNP:rs386834037EnsemblClinVar.1
Natural variantiVAR_023104311R → Q in MDDGA3 and MDDGB3. 2 PublicationsCorresponds to variant dbSNP:rs193919336EnsemblClinVar.1
Natural variantiVAR_065023367R → H in MDDGA3. 1 PublicationCorresponds to variant dbSNP:rs762972459Ensembl.1
Natural variantiVAR_023105425W → S in MDDGA3. 1 PublicationCorresponds to variant dbSNP:rs386834011EnsemblClinVar.1
Natural variantiVAR_065024427D → H in MDDGA3. 1 Publication1
Natural variantiVAR_023106442R → C in MDDGA3. 1 PublicationCorresponds to variant dbSNP:rs28940869EnsemblClinVar.1
Natural variantiVAR_023107490C → Y in MDDGA3 and MDDGB3. 3 PublicationsCorresponds to variant dbSNP:rs267606960EnsemblClinVar.1
Natural variantiVAR_023108493P → R in MDDGA3; specific activity abolished. 2 PublicationsCorresponds to variant dbSNP:rs28942068EnsemblClinVar.1
Natural variantiVAR_023109550S → N in MDDGA3. 1 PublicationCorresponds to variant dbSNP:rs193919335EnsemblClinVar.1
Muscular dystrophy-dystroglycanopathy congenital with mental retardation B3 (MDDGB3)3 Publications
The disease is caused by variants affecting the gene represented in this entry.
Disease descriptionAn autosomal recessive disorder characterized by congenital muscular dystrophy associated with mental retardation and mild structural brain abnormalities. Clinical features include mental retardation, white matter changes, cerebellar cysts, pontine hypoplasia, myopia, optic atrophy, decreased alpha-dystroglycan on muscle biopsy and increased serum creatine kinase.
Related information in OMIM
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_023104311R → Q in MDDGA3 and MDDGB3. 2 PublicationsCorresponds to variant dbSNP:rs193919336EnsemblClinVar.1
Natural variantiVAR_023107490C → Y in MDDGA3 and MDDGB3. 3 PublicationsCorresponds to variant dbSNP:rs267606960EnsemblClinVar.1
Natural variantiVAR_065026605R → P in MDDGB3. 1 PublicationCorresponds to variant dbSNP:rs267606962EnsemblClinVar.1
Muscular dystrophy-dystroglycanopathy limb-girdle C3 (MDDGC3)1 Publication
The disease is caused by variants affecting the gene represented in this entry.
Disease descriptionA rare form of limb-girdle muscular dystrophy with normal cognition. Muscle biopsy shows dystrophic changes with variable staining for glycosylated alpha-dystroglycan.
Related information in OMIM
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_065025556D → N in MDDGC3; normal enzyme activity but altered kinetic properties. 1 PublicationCorresponds to variant dbSNP:rs74374973EnsemblClinVar.1
Retinitis pigmentosa 76 (RP76)2 Publications
The disease is caused by variants affecting the gene represented in this entry.
Disease descriptionA form of retinitis pigmentosa, a retinal dystrophy belonging to the group of pigmentary retinopathies. Retinitis pigmentosa is characterized by retinal pigment deposits visible on fundus examination and primary loss of rod photoreceptor cells followed by secondary loss of cone photoreceptors. Patients typically have night vision blindness and loss of midperipheral visual field. As their condition progresses, they lose their far peripheral visual field and eventually central vision as well. RP76 inheritance is autosomal recessive.
Related information in OMIM
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_077054120L → R in RP76; no effect on protein abundance; reduced acetylglucosaminyltransferase activity. 1 PublicationCorresponds to variant dbSNP:rs886037949Ensembl.1
Natural variantiVAR_076524156E → K in RP76; reduced acetylglucosaminyltransferase activity. 1 PublicationCorresponds to variant dbSNP:rs886037947EnsemblClinVar.1
Natural variantiVAR_076525287I → S in RP76; reduced acetylglucosaminyltransferase activity. 1 PublicationCorresponds to variant dbSNP:rs200863680EnsemblClinVar.1
Natural variantiVAR_076526502G → A in RP76. 1 PublicationCorresponds to variant dbSNP:rs886037948EnsemblClinVar.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>Mutagenesisi1 – 65Missing : Gives rise to a soluble form. 1 PublicationAdd BLAST65
Mutagenesisi129R → A: Decreased protein stability. Decreased enzyme activity. 1 Publication1
Mutagenesisi179D → A: Moderately increased enzyme activity. Decreased affinity for N-acetylglucosamine. 1 Publication1
Mutagenesisi207R → A: Decreased enzyme activity. Impairs protein stability. 1 Publication1
Mutagenesisi473W → A: Abolishes in vitro enzyme activity; when associated with A-477. 1 Publication1
Mutagenesisi474D → A: Nearly abolishes enzyme activity. 1 Publication1
Mutagenesisi477M → A: Abolishes in vitro enzyme activity; when associated with A-473. 1 Publication1
Mutagenesisi481M → A: Decreased enzyme activity. 1 Publication1
Mutagenesisi507N → A: Abolishes enzyme activity. 1 Publication1
Mutagenesisi600W → A: Abolishes enzyme activity. 1 Publication1

Keywords - Diseasei

Congenital muscular dystrophy, Disease variant, Dystroglycanopathy, Limb-girdle muscular dystrophy, Lissencephaly, Retinitis pigmentosa

Organism-specific databases

DisGeNET

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DisGeNETi
55624

MalaCards human disease database

More...
MalaCardsi
POMGNT1
MIMi253280, phenotype
613151, phenotype
613157, phenotype
617123, phenotype

Open Targets

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OpenTargetsi
ENSG00000085998

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

More...
Orphaneti
370959, Congenital muscular dystrophy with cerebellar involvement
588, Muscle-eye-brain disease
206564, POMGNT1-related limb-girdle muscular dystrophy R15
791, Retinitis pigmentosa
899, Walker-Warburg syndrome

The Pharmacogenetics and Pharmacogenomics Knowledge Base

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PharmGKBi
PA142671161

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

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Pharosi
Q8WZA1, Tbio

Chemistry databases

ChEMBL database of bioactive drug-like small molecules

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ChEMBLi
CHEMBL2321629

Genetic variation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
POMGNT1

Domain mapping of disease mutations (DMDM)

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DMDMi
311033411

<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 describes the extent of a polypeptide chain in the mature protein following processing or proteolytic cleavage.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00001913901 – 660Protein O-linked-mannose beta-1,2-N-acetylglucosaminyltransferase 1Add BLAST660

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'PTM / Processing' section specifies the position and type of each modified residue excluding <a href="http://www.uniprot.org/manual/lipid">lipids</a>, <a href="http://www.uniprot.org/manual/carbohyd">glycans</a> and <a href="http://www.uniprot.org/manual/crosslnk">protein cross-links</a>.<p><a href='/help/mod_res' target='_top'>More...</a></p>Modified residuei7PhosphoserineCombined sources1
<p>This subsection of the PTM / Processing":/help/ptm_processing_section section describes the positions of cysteine residues participating in disulfide bonds.<p><a href='/help/disulfid' target='_top'>More...</a></p>Disulfide bondi254 ↔ 281Combined sources1 Publication
Disulfide bondi269 ↔ 279Combined sources1 Publication
Disulfide bondi421 ↔ 490Combined sources1 Publication
Disulfide bondi562 ↔ 596Combined sources1 Publication

Keywords - PTMi

Disulfide bond, Phosphoprotein

Proteomic databases

Encyclopedia of Proteome Dynamics

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EPDi
Q8WZA1

jPOST - Japan Proteome Standard Repository/Database

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jPOSTi
Q8WZA1

MassIVE - Mass Spectrometry Interactive Virtual Environment

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MassIVEi
Q8WZA1

MaxQB - The MaxQuant DataBase

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MaxQBi
Q8WZA1

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

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PaxDbi
Q8WZA1

PeptideAtlas

More...
PeptideAtlasi
Q8WZA1

PRoteomics IDEntifications database

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PRIDEi
Q8WZA1

ProteomicsDB: a multi-organism proteome resource

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ProteomicsDBi
65277
75242 [Q8WZA1-1]

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

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iPTMneti
Q8WZA1

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

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PhosphoSitePlusi
Q8WZA1

SwissPalm database of S-palmitoylation events

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SwissPalmi
Q8WZA1

<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

<p>This subsection of the 'Expression' section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms. By default, the information is derived from experiments at the mRNA level, unless specified 'at protein level'.<br></br>Examples: <a href="http://www.uniprot.org/uniprot/P92958#expression">P92958</a>, <a href="http://www.uniprot.org/uniprot/Q8TDN4#expression">Q8TDN4</a>, <a href="http://www.uniprot.org/uniprot/O14734#expression">O14734</a><p><a href='/help/tissue_specificity' target='_top'>More...</a></p>Tissue specificityi

Constitutively expressed. An additional weaker band is also detected in spinal cord, lymph node, and trachea. Expressed especially in astrocytes. Also expressed in immature and mature neurons.2 Publications

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...
Bgeei
ENSG00000085998, Expressed in C1 segment of cervical spinal cord and 224 other tissues

ExpressionAtlas, Differential and Baseline Expression

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ExpressionAtlasi
Q8WZA1, baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

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Genevisiblei
Q8WZA1, HS

Organism-specific databases

Human Protein Atlas

More...
HPAi
ENSG00000085998, Low tissue specificity

<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

<p>This subsection of the <a href="http://www.uniprot.org/help/interaction_section">'Interaction'</a> section provides information about the protein quaternary structure and interaction(s) with other proteins or protein complexes (with the exception of physiological receptor-ligand interactions which are annotated in the <a href="http://www.uniprot.org/help/function_section">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>Subunit structurei

Interacts with DAG1 (via O-linked mannose moiety) (PubMed:27493216).

Interacts (via transmembrane domain) with FKTN; the interaction is direct and is required for normal location in Golgi membranes (PubMed:17034757).

2 Publications

<p>This subsection of the '<a href="http://www.uniprot.org/help/interaction_section">Interaction</a>' section provides information about binary protein-protein interactions. The data presented in this section are a quality-filtered subset of binary interactions automatically derived from the <a href="https://www.ebi.ac.uk/intact/">IntAct database</a>. It is updated at every <a href="http://www.uniprot.org/help/synchronization">UniProt release</a>.<p><a href='/help/binary_interactions' target='_top'>More...</a></p>Binary interactionsi

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Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGRID)

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BioGRIDi
120763, 39 interactors

Protein interaction database and analysis system

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IntActi
Q8WZA1, 26 interactors

Molecular INTeraction database

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MINTi
Q8WZA1

STRING: functional protein association networks

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STRINGi
9606.ENSP00000361060

Miscellaneous databases

RNAct, Protein-RNA interaction predictions for model organisms.

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RNActi
Q8WZA1, 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

Secondary structure

1660
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details

3D structure databases

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

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SMRi
Q8WZA1

Database of comparative protein structure models

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ModBasei
Search...

Protein Data Bank in Europe - Knowledge Base

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PDBe-KBi
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

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Family and Domains' section describes a region of interest that cannot be described in other subsections.<p><a href='/help/region' target='_top'>More...</a></p>Regioni68 – 96DisorderedSequence analysisAdd BLAST29
Regioni92 – 288Carbohydrate-binding stem domain1 PublicationAdd BLAST197
Regioni300 – 646Catalytic2 PublicationsAdd BLAST347
Regioni473 – 481Interaction with O-glycosylated substrate glycoprotein1 Publication9
Regioni506 – 512Interaction with O-glycosylated substrate glycoprotein1 Publication7
Regioni600 – 605Interaction with O-glycosylated substrate glycoprotein1 Publication6
Regioni637 – 660DisorderedSequence analysisAdd BLAST24

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Family and Domains' section describes the position of regions of compositional bias within the protein and the particular type of amino acids that are over-represented within those regions.<p><a href='/help/compbias' target='_top'>More...</a></p>Compositional biasi78 – 96Basic and acidic residuesSequence analysisAdd BLAST19

<p>This subsection of the 'Family and domains' section provides general information on the biological role of a domain. The term 'domain' is intended here in its wide acceptation, it may be a structural domain, a transmembrane region or a functional domain. Several domains are described in this subsection.<p><a href='/help/domain_cc' target='_top'>More...</a></p>Domaini

Amino acid residues between 299-311 are important for both protein expression and enzymatic activity. The minimal catalytic domain is located between positions 299-651. Single amino acid substitutions in the stem domain from MEB patients abolished the activity of the membrane-bound form but not the soluble form. This suggests that the stem domain of the soluble form is unnecessary for activity, but that some amino acids play a crucial role in the membrane-bound form.1 Publication
The stem domain mediates specific interaction with beta-linked N-acetylglucosamine moieties of O-glycosylated proteins. It also interacts with its product, N-acetyl-beta-D-glucosaminyl-(1->2)-O-alpha-D-mannosylprotein.1 Publication

<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 13 family.Curated

Keywords - Domaini

Signal-anchor, Transmembrane, Transmembrane helix

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...
eggNOGi
ENOG502QSG3, Eukaryota

Ensembl GeneTree

More...
GeneTreei
ENSGT00530000063632

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...
HOGENOMi
CLU_024847_0_0_1

InParanoid: Eukaryotic Ortholog Groups

More...
InParanoidi
Q8WZA1

Identification of Orthologs from Complete Genome Data

More...
OMAi
YMEPPAK

Database of Orthologous Groups

More...
OrthoDBi
1324622at2759

Database for complete collections of gene phylogenies

More...
PhylomeDBi
Q8WZA1

TreeFam database of animal gene trees

More...
TreeFami
TF320555

Family and domain databases

Conserved Domains Database

More...
CDDi
cd13937, PANDER_GnT-1_2_like, 1 hit

Gene3D Structural and Functional Annotation of Protein Families

More...
Gene3Di
3.90.550.10, 1 hit

Integrated resource of protein families, domains and functional sites

More...
InterProi
View protein in InterPro
IPR004139, Glyco_trans_13
IPR039477, ILEI/PANDER_dom
IPR029044, Nucleotide-diphossugar_trans
IPR039474, POMGNT1_PANDER-like

Pfam protein domain database

More...
Pfami
View protein in Pfam
PF03071, GNT-I, 1 hit
PF15711, ILEI, 1 hit

Superfamily database of structural and functional annotation

More...
SUPFAMi
SSF53448, SSF53448, 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 (2+)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.

This entry describes 2 <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 2 described isoforms and 1 potential isoform that is computationally mapped.Show allAlign All

Isoform 1 (identifier: Q8WZA1-1) [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
MDDWKPSPLI KPFGARKKRS WYLTWKYKLT NQRALRRFCQ TGAVLFLLVT
60 70 80 90 100
VIVNIKLILD TRRAISEANE DPEPEQDYDE ALGRLEPPRR RGSGPRRVLD
110 120 130 140 150
VEVYSSRSKV YVAVDGTTVL EDEAREQGRG IHVIVLNQAT GHVMAKRVFD
160 170 180 190 200
TYSPHEDEAM VLFLNMVAPG RVLICTVKDE GSFHLKDTAK ALLRSLGSQA
210 220 230 240 250
GPALGWRDTW AFVGRKGGPV FGEKHSKSPA LSSWGDPVLL KTDVPLSSAE
260 270 280 290 300
EAECHWADTE LNRRRRRFCS KVEGYGSVCS CKDPTPIEFS PDPLPDNKVL
310 320 330 340 350
NVPVAVIAGN RPNYLYRMLR SLLSAQGVSP QMITVFIDGY YEEPMDVVAL
360 370 380 390 400
FGLRGIQHTP ISIKNARVSQ HYKASLTATF NLFPEAKFAV VLEEDLDIAV
410 420 430 440 450
DFFSFLSQSI HLLEEDDSLY CISAWNDQGY EHTAEDPALL YRVETMPGLG
460 470 480 490 500
WVLRRSLYKE ELEPKWPTPE KLWDWDMWMR MPEQRRGREC IIPDVSRSYH
510 520 530 540 550
FGIVGLNMNG YFHEAYFKKH KFNTVPGVQL RNVDSLKKEA YEVEVHRLLS
560 570 580 590 600
EAEVLDHSKN PCEDSFLPDT EGHTYVAFIR MEKDDDFTTW TQLAKCLHIW
610 620 630 640 650
DLDVRGNHRG LWRLFRKKNH FLMVGVPASP YSVKKPPSVT PIFLEPPPKE
660
EGAPGAPEQT
Length:660
Mass (Da):75,252
Last modified:November 2, 2010 - v2
<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:iC58D0E543E033F17
GO
Isoform 2 (identifier: Q8WZA1-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     624-660: VGVPASPYSV...EGAPGAPEQT → SEEATLSHPN...LLFVQISKAG

Show »
Length:748
Mass (Da):84,700
Checksum:iB88BFD957237FEFD
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 is 1 potential isoform mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
Q68CV6Q68CV6_HUMAN
Protein O-linked-mannose beta-1,2-N...
POMGNT1 DKFZp761B182
200Annotation 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 BAB14207 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 conflicti636P → L in BAA91053 (PubMed:12975309).Curated1
Isoform 2 (identifier: Q8WZA1-2)
Sequence conflicti636G → K in AK056186 (PubMed:14702039).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_077054120L → R in RP76; no effect on protein abundance; reduced acetylglucosaminyltransferase activity. 1 PublicationCorresponds to variant dbSNP:rs886037949Ensembl.1
Natural variantiVAR_076524156E → K in RP76; reduced acetylglucosaminyltransferase activity. 1 PublicationCorresponds to variant dbSNP:rs886037947EnsemblClinVar.1
Natural variantiVAR_065021176T → P in MDDGA3. 1 PublicationCorresponds to variant dbSNP:rs386834030EnsemblClinVar.1
Natural variantiVAR_065022198S → R in MDDGA3. 1 PublicationCorresponds to variant dbSNP:rs386834032EnsemblClinVar.1
Natural variantiVAR_023101223E → K in MDDGA3; specific activity abolished in the membrane bound form but not the soluble form. 3 PublicationsCorresponds to variant dbSNP:rs386834036EnsemblClinVar.1
Natural variantiVAR_030645250E → V1 PublicationCorresponds to variant dbSNP:rs17855359Ensembl.1
Natural variantiVAR_023102265R → H in MDDGA3; found on the same allele as Q-311; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs386834010EnsemblClinVar.1
Natural variantiVAR_023103269C → Y in MDDGA3; specific activity abolished of the membrane bound form but not the soluble form. 3 PublicationsCorresponds to variant dbSNP:rs386834037EnsemblClinVar.1
Natural variantiVAR_076525287I → S in RP76; reduced acetylglucosaminyltransferase activity. 1 PublicationCorresponds to variant dbSNP:rs200863680EnsemblClinVar.1
Natural variantiVAR_023104311R → Q in MDDGA3 and MDDGB3. 2 PublicationsCorresponds to variant dbSNP:rs193919336EnsemblClinVar.1
Natural variantiVAR_065023367R → H in MDDGA3. 1 PublicationCorresponds to variant dbSNP:rs762972459Ensembl.1
Natural variantiVAR_023105425W → S in MDDGA3. 1 PublicationCorresponds to variant dbSNP:rs386834011EnsemblClinVar.1
Natural variantiVAR_065024427D → H in MDDGA3. 1 Publication1
Natural variantiVAR_023106442R → C in MDDGA3. 1 PublicationCorresponds to variant dbSNP:rs28940869EnsemblClinVar.1
Natural variantiVAR_023107490C → Y in MDDGA3 and MDDGB3. 3 PublicationsCorresponds to variant dbSNP:rs267606960EnsemblClinVar.1
Natural variantiVAR_023108493P → R in MDDGA3; specific activity abolished. 2 PublicationsCorresponds to variant dbSNP:rs28942068EnsemblClinVar.1
Natural variantiVAR_076526502G → A in RP76. 1 PublicationCorresponds to variant dbSNP:rs886037948EnsemblClinVar.1
Natural variantiVAR_030646504V → I. Corresponds to variant dbSNP:rs17102066EnsemblClinVar.1
Natural variantiVAR_023109550S → N in MDDGA3. 1 PublicationCorresponds to variant dbSNP:rs193919335EnsemblClinVar.1
Natural variantiVAR_065025556D → N in MDDGC3; normal enzyme activity but altered kinetic properties. 1 PublicationCorresponds to variant dbSNP:rs74374973EnsemblClinVar.1
Natural variantiVAR_065026605R → P in MDDGB3. 1 PublicationCorresponds to variant dbSNP:rs267606962EnsemblClinVar.1
Natural variantiVAR_023110623M → V7 PublicationsCorresponds to variant dbSNP:rs6659553Ensembl.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_054029624 – 660VGVPA…APEQT → SEEATLSHPNFPGATPKGGG SPRSPRTDMRPPPGPCGAGP GSESNLFIDCPEGLENRPNL EGLDFFLGWNAALRVGLALT QETAVPNPWTGPAGAHMLTQ THSETLRHWTRPPLSLLFVQ ISKAG in isoform 2. 1 PublicationAdd BLAST37

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
AB057356 mRNA Translation: BAB71960.1
AY358592 mRNA Translation: AAQ88955.1
AK000284 mRNA Translation: BAA91053.1
AK022727 mRNA Translation: BAB14207.1 Different initiation.
AK056186 mRNA No translation available.
AL672043 Genomic DNA No translation available.
CH471059 Genomic DNA Translation: EAX06932.1
CH471059 Genomic DNA Translation: EAX06933.1
CH471059 Genomic DNA Translation: EAX06935.1
BC001471 mRNA Translation: AAH01471.1
AF250859 mRNA Translation: AAF71270.2

The Consensus CDS (CCDS) project

More...
CCDSi
CCDS531.1 [Q8WZA1-1]
CCDS57995.1 [Q8WZA1-2]

NCBI Reference Sequences

More...
RefSeqi
NP_060209.3, NM_017739.3 [Q8WZA1-1]
XP_006710819.1, XM_006710756.1 [Q8WZA1-2]
XP_016857179.1, XM_017001690.1 [Q8WZA1-1]

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...
Ensembli
ENST00000371984; ENSP00000361052; ENSG00000085998 [Q8WZA1-1]
ENST00000371992; ENSP00000361060; ENSG00000085998 [Q8WZA1-2]

Database of genes from NCBI RefSeq genomes

More...
GeneIDi
55624

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...
KEGGi
hsa:55624

UCSC genome browser

More...
UCSCi
uc001cpe.4, human [Q8WZA1-1]

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

<p>This subsection of the <a href="http://www.uniprot.org/manual/cross_references_section">Cross-references</a> section provides links to various web resources that are relevant for a specific protein.<p><a href='/help/web_resource' target='_top'>More...</a></p>Web resourcesi

Functional Glycomics Gateway - GTase

Protein O-linked-mannose beta-1,2-N-acetylglucosaminyltransferase 1

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AB057356 mRNA Translation: BAB71960.1
AY358592 mRNA Translation: AAQ88955.1
AK000284 mRNA Translation: BAA91053.1
AK022727 mRNA Translation: BAB14207.1 Different initiation.
AK056186 mRNA No translation available.
AL672043 Genomic DNA No translation available.
CH471059 Genomic DNA Translation: EAX06932.1
CH471059 Genomic DNA Translation: EAX06933.1
CH471059 Genomic DNA Translation: EAX06935.1
BC001471 mRNA Translation: AAH01471.1
AF250859 mRNA Translation: AAF71270.2
CCDSiCCDS531.1 [Q8WZA1-1]
CCDS57995.1 [Q8WZA1-2]
RefSeqiNP_060209.3, NM_017739.3 [Q8WZA1-1]
XP_006710819.1, XM_006710756.1 [Q8WZA1-2]
XP_016857179.1, XM_017001690.1 [Q8WZA1-1]

3D structure databases

Select the link destinations:

Protein Data Bank Europe

More...
PDBei

Protein Data Bank RCSB

More...
RCSB PDBi

Protein Data Bank Japan

More...
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
5GGFX-ray2.49A/B/C92-660[»]
5GGGX-ray3.00A92-660[»]
5GGIX-ray2.60A/B92-660[»]
5GGJX-ray1.42A/B92-250[»]
5GGKX-ray1.30A/B92-250[»]
5GGLX-ray1.27A/B92-250[»]
5GGNX-ray1.21A/B92-250[»]
5GGOX-ray1.50A/B92-250[»]
5GGPX-ray1.60A/B92-250[»]
5XFCX-ray1.40A/B92-250[»]
SMRiQ8WZA1
ModBaseiSearch...
PDBe-KBiSearch...

Protein-protein interaction databases

BioGRIDi120763, 39 interactors
IntActiQ8WZA1, 26 interactors
MINTiQ8WZA1
STRINGi9606.ENSP00000361060

Chemistry databases

ChEMBLiCHEMBL2321629

Protein family/group databases

CAZyiGT13, Glycosyltransferase Family 13

PTM databases

iPTMnetiQ8WZA1
PhosphoSitePlusiQ8WZA1
SwissPalmiQ8WZA1

Genetic variation databases

BioMutaiPOMGNT1
DMDMi311033411

Proteomic databases

EPDiQ8WZA1
jPOSTiQ8WZA1
MassIVEiQ8WZA1
MaxQBiQ8WZA1
PaxDbiQ8WZA1
PeptideAtlasiQ8WZA1
PRIDEiQ8WZA1
ProteomicsDBi65277
75242 [Q8WZA1-1]

Protocols and materials databases

Antibodypedia a portal for validated antibodies

More...
Antibodypediai
32757, 107 antibodies

The DNASU plasmid repository

More...
DNASUi
55624

Genome annotation databases

EnsembliENST00000371984; ENSP00000361052; ENSG00000085998 [Q8WZA1-1]
ENST00000371992; ENSP00000361060; ENSG00000085998 [Q8WZA1-2]
GeneIDi55624
KEGGihsa:55624
UCSCiuc001cpe.4, human [Q8WZA1-1]

Organism-specific databases

Comparative Toxicogenomics Database

More...
CTDi
55624
DisGeNETi55624

GeneCards: human genes, protein and diseases

More...
GeneCardsi
POMGNT1
HGNCiHGNC:19139, POMGNT1
HPAiENSG00000085998, Low tissue specificity
MalaCardsiPOMGNT1
MIMi253280, phenotype
606822, gene
613151, phenotype
613157, phenotype
617123, phenotype
neXtProtiNX_Q8WZA1
OpenTargetsiENSG00000085998
Orphaneti370959, Congenital muscular dystrophy with cerebellar involvement
588, Muscle-eye-brain disease
206564, POMGNT1-related limb-girdle muscular dystrophy R15
791, Retinitis pigmentosa
899, Walker-Warburg syndrome
PharmGKBiPA142671161
VEuPathDBiHostDB:ENSG00000085998

GenAtlas: human gene database

More...
GenAtlasi
Search...

Phylogenomic databases

eggNOGiENOG502QSG3, Eukaryota
GeneTreeiENSGT00530000063632
HOGENOMiCLU_024847_0_0_1
InParanoidiQ8WZA1
OMAiYMEPPAK
OrthoDBi1324622at2759
PhylomeDBiQ8WZA1
TreeFamiTF320555

Enzyme and pathway databases

UniPathwayiUPA00378
BioCyciMetaCyc:ENSG00000085998-MONOMER
PathwayCommonsiQ8WZA1
ReactomeiR-HSA-5083628, Defective POMGNT1 causes MDDGA3, MDDGB3 and MDDGC3
R-HSA-5173105, O-linked glycosylation
SIGNORiQ8WZA1

Miscellaneous databases

BioGRID ORCS database of CRISPR phenotype screens

More...
BioGRID-ORCSi
55624, 5 hits in 1017 CRISPR screens

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

More...
ChiTaRSi
POMGNT1, human

The Gene Wiki collection of pages on human genes and proteins

More...
GeneWikii
POMGNT1

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

More...
GenomeRNAii
55624
PharosiQ8WZA1, Tbio

Protein Ontology

More...
PROi
PR:Q8WZA1
RNActiQ8WZA1, protein

The Stanford Online Universal Resource for Clones and ESTs

More...
SOURCEi
Search...

Gene expression databases

BgeeiENSG00000085998, Expressed in C1 segment of cervical spinal cord and 224 other tissues
ExpressionAtlasiQ8WZA1, baseline and differential
GenevisibleiQ8WZA1, HS

Family and domain databases

CDDicd13937, PANDER_GnT-1_2_like, 1 hit
Gene3Di3.90.550.10, 1 hit
InterProiView protein in InterPro
IPR004139, Glyco_trans_13
IPR039477, ILEI/PANDER_dom
IPR029044, Nucleotide-diphossugar_trans
IPR039474, POMGNT1_PANDER-like
PfamiView protein in Pfam
PF03071, GNT-I, 1 hit
PF15711, ILEI, 1 hit
SUPFAMiSSF53448, SSF53448, 1 hit

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 nameiPMGT1_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: Q8WZA1
Secondary accession number(s): D3DQ16
, Q5VST2, Q5VST3, Q9BV55, Q9H9L8, Q9NXF9, Q9NYF7
<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: August 16, 2005
Last sequence update: November 2, 2010
Last modified: September 29, 2021
This is version 170 of the entry and version 2 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

3D-structure, Reference proteome

Documents

  1. Human chromosome 1
    Human chromosome 1: entries, gene names and cross-references to MIM
  2. Human entries with genetic variants
    List of human entries with genetic variants
  3. Human variants curated from literature reports
    Index of human variants curated from literature reports
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. PATHWAY comments
    Index of metabolic and biosynthesis pathways
  6. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  7. SIMILARITY comments
    Index of protein domains and families
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