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UniProtKB - Q14435 (GALT3_HUMAN)

Entry version 179 (12 Aug 2020)
Sequence version 2 (14 Oct 2008)
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Protein

Polypeptide N-acetylgalactosaminyltransferase 3

Gene

GALNT3

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 initial reaction in O-linked oligosaccharide biosynthesis, the transfer of an N-acetyl-D-galactosamine residue to a serine or threonine residue on the protein receptor. Has activity toward HIV envelope glycoprotein gp120, EA2, Muc2 and Muc5. Probably glycosylates fibronectin in vivo. Glycosylates FGF23. Plays a central role in phosphate homeostasis.2 Publications

Miscellaneous

Overexpressed in many differentiated carcinomas, suggesting that it may serve as a marker of tumor differentiation.

<p>This subsection of the <a href="http://www.uniprot.org/help/function%5Fsection">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+By similarity

<p>This subsection of the <a href="http://www.uniprot.org/help/function%5Fsection">'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.
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%5Fsection">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 sitei225SubstrateBy similarity1
Binding sitei254SubstrateBy similarity1
<p>This subsection of the <a href="http://www.uniprot.org/help/function%5Fsection">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 bindingi277ManganeseBy similarity1
Metal bindingi279ManganeseBy similarity1
Binding sitei387SubstrateBy similarity1
Metal bindingi415ManganeseBy similarity1
Binding sitei418SubstrateBy similarity1

<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
LigandLectin, Manganese, Metal-binding

Enzyme and pathway databases

BRENDA Comprehensive Enzyme Information System

More...BRENDAi		2.4.1.41, 2681

Pathway Commons web resource for biological pathway data

More...PathwayCommonsi		Q14435

Reactome - a knowledgebase of biological pathways and processes

More...Reactomei		R-HSA-190372, FGFR3c ligand binding and activation
R-HSA-5083625, Defective GALNT3 causes familial hyperphosphatemic tumoral calcinosis (HFTC)
R-HSA-913709, O-linked glycosylation of mucins

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

More...UniPathwayi		UPA00378

Protein family/group databases

Carbohydrate-Active enZymes

More...CAZyi		CBM13, Carbohydrate-Binding Module Family 13
GT27, Glycosyltransferase Family 27

<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%5Fand%5Ftaxonomy%5Fsection">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:
Polypeptide N-acetylgalactosaminyltransferase 3 (EC:2.4.1.41)
Alternative name(s):
Polypeptide GalNAc transferase 3
Short name:
GalNAc-T3
Short name:
pp-GaNTase 3
Protein-UDP acetylgalactosaminyltransferase 3
UDP-GalNAc:polypeptide N-acetylgalactosaminyltransferase 3
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">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:GALNT3
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">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%5Fand%5Ftaxonomy%5Fsection">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%5Fand%5Ftaxonomy%5Fsection">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%5Fand%5Ftaxonomy%5Fsection">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%5Fmanual">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 2

Organism-specific databases

Eukaryotic Pathogen Database Resources

More...EuPathDBi		HostDB:ENSG00000115339.13

Human Gene Nomenclature Database

More...HGNCi		HGNC:4125, GALNT3

Online Mendelian Inheritance in Man (OMIM)

More...MIMi		601756, gene

neXtProt; the human protein knowledge platform

More...neXtProti		NX_Q14435

<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

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/subcellular%5Flocation%5Fsection">'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 – 19CytoplasmicSequence analysisAdd BLAST19
<p>This subsection of the <a href="http://www.uniprot.org/help/subcellular%5Flocation%5Fsection">'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>Transmembranei20 – 37Helical; Signal-anchor for type II membrane proteinSequence analysisAdd BLAST18
Topological domaini38 – 633LumenalSequence analysisAdd BLAST596

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

Tumoral calcinosis, hyperphosphatemic, familial, 1 (HFTC1)2 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA form of hyperphosphatemic tumoral calcinosis, a rare autosomal recessive metabolic disorder that manifests with hyperphosphatemia and massive calcium deposits in the skin and subcutaneous tissues. Some patients have recurrent, transient, painful swellings of the long bones associated with the radiographic findings of periosteal reaction and cortical hyperostosis and absence of skin involvement.
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_080832162 – 633Missing in HFTC1. 1 PublicationAdd BLAST472

Keywords - Diseasei

Disease mutation

Organism-specific databases

DisGeNET

More...DisGeNETi		2591

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

More...GeneReviewsi		GALNT3

MalaCards human disease database

More...MalaCardsi		GALNT3
MIMi211900, phenotype

Open Targets

More...OpenTargetsi		ENSG00000115339

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

More...Orphaneti		306661, Familial hyperphosphatemic tumoral calcinosis/Hyperphosphatemic hyperostosis syndrome

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...PharmGKBi		PA28538

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...Pharosi		Q14435, Tbio

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...BioMutai		GALNT3

Domain mapping of disease mutations (DMDM)

More...DMDMi		209572629

<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_00000591061 – 633Polypeptide N-acetylgalactosaminyltransferase 3Add BLAST633

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/ptm%5Fprocessing%5Fsection">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>Glycosylationi132N-linked (GlcNAc...) asparagineSequence analysis1
<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 bondi173 ↔ 410PROSITE-ProRule annotation
Glycosylationi297N-linked (GlcNAc...) asparagineSequence analysis1
Disulfide bondi401 ↔ 482PROSITE-ProRule annotation
Glycosylationi484N-linked (GlcNAc...) asparagineSequence analysis1
Disulfide bondi517 ↔ 535PROSITE-ProRule annotation
Disulfide bondi561 ↔ 574PROSITE-ProRule annotation
Disulfide bondi605 ↔ 618PROSITE-ProRule annotation

Keywords - PTMi

Disulfide bond, Glycoprotein

Proteomic databases

Encyclopedia of Proteome Dynamics

More...EPDi		Q14435

jPOST - Japan Proteome Standard Repository/Database

More...jPOSTi		Q14435

MassIVE - Mass Spectrometry Interactive Virtual Environment

More...MassIVEi		Q14435

MaxQB - The MaxQuant DataBase

More...MaxQBi		Q14435

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

More...PaxDbi		Q14435

PeptideAtlas

More...PeptideAtlasi		Q14435

PRoteomics IDEntifications database

More...PRIDEi		Q14435

ProteomicsDB: a multi-organism proteome resource

More...ProteomicsDBi		59988 [Q14435-1]
59989 [Q14435-2]

PTM databases

GlyConnect protein glycosylation platform

More...GlyConnecti		1620, 3 N-Linked glycans (1 site)

GlyGen: Computational and Informatics Resources for Glycoscience

More...GlyGeni		Q14435, 3 sites

iPTMnet integrated resource for PTMs in systems biology context

More...iPTMneti		Q14435

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

More...PhosphoSitePlusi		Q14435

<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

Expressed in organs that contain secretory epithelial glands. Highly expressed in pancreas, skin, kidney and testis. Weakly expressed in prostate, ovary, intestine and colon. Also expressed in placenta and lung and fetal lung and fetal kidney.2 Publications

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...Bgeei		ENSG00000115339, Expressed in colonic mucosa and 188 other tissues

ExpressionAtlas, Differential and Baseline Expression

More...ExpressionAtlasi		Q14435, baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...Genevisiblei		Q14435, HS

Organism-specific databases

Human Protein Atlas

More...HPAi		ENSG00000115339, 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%5Fsection">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

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGRID)

More...BioGRIDi		108863, 6 interactors

Protein interaction database and analysis system

More...IntActi		Q14435, 6 interactors

STRING: functional protein association networks

More...STRINGi		9606.ENSP00000376465

Miscellaneous databases

RNAct, Protein-RNA interaction predictions for model organisms.

More...RNActi		Q14435, 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		Q14435

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

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/family%5Fand%5Fdomains%5Fsection">Family and Domains</a> section describes the position and type of a domain, which is defined as a specific combination of secondary structures organized into a characteristic three-dimensional structure or fold.<p><a href='/help/domain' target='_top'>More...</a></p>Domaini504 – 630Ricin B-type lectinPROSITE-ProRule annotationAdd BLAST127

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>Regioni184 – 293Catalytic subdomain AAdd BLAST110
Regioni356 – 418Catalytic subdomain BAdd BLAST63

<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

There are two conserved domains in the glycosyltransferase region: the N-terminal domain (domain A, also called GT1 motif), which is probably involved in manganese coordination and substrate binding and the C-terminal domain (domain B, also called Gal/GalNAc-T motif), which is probably involved in catalytic reaction and UDP-Gal binding.By similarity
The ricin B-type lectin domain binds to GalNAc and contributes to the glycopeptide specificity.By similarity

<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 2 family. GalNAc-T subfamily.Curated

Keywords - Domaini

Signal-anchor, Transmembrane, Transmembrane helix

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...eggNOGi		KOG3736, Eukaryota

Ensembl GeneTree

More...GeneTreei		ENSGT00940000156609

InParanoid: Eukaryotic Ortholog Groups

More...InParanoidi		Q14435

KEGG Orthology (KO)

More...KOi		K00710

Identification of Orthologs from Complete Genome Data

More...OMAi		EYSAHHE

Database of Orthologous Groups

More...OrthoDBi		606683at2759

Database for complete collections of gene phylogenies

More...PhylomeDBi		Q14435

TreeFam database of animal gene trees

More...TreeFami		TF313267

Family and domain databases

Conserved Domains Database

More...CDDi		cd00161, RICIN, 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
IPR001173, Glyco_trans_2-like
IPR029044, Nucleotide-diphossugar_trans
IPR035992, Ricin_B-like_lectins
IPR000772, Ricin_B_lectin

Pfam protein domain database

More...Pfami		View protein in Pfam
PF00535, Glycos_transf_2, 1 hit
PF00652, Ricin_B_lectin, 1 hit

Simple Modular Architecture Research Tool; a protein domain database

More...SMARTi		View protein in SMART
SM00458, RICIN, 1 hit

Superfamily database of structural and functional annotation

More...SUPFAMi		SSF50370, SSF50370, 1 hit
SSF53448, SSF53448, 1 hit

PROSITE; a protein domain and family database

More...PROSITEi		View protein in PROSITE
PS50231, RICIN_B_LECTIN, 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%5Flength">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%5Fsection">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">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. This section is only present in reviewed entries, i.e. in UniProtKB/Swiss-Prot.<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 7 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: Q14435-1) [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
MAHLKRLVKL HIKRHYHKKF WKLGAVIFFF IIVLVLMQRE VSVQYSKEES 
        60         70         80         90        100
RMERNMKNKN KMLDLMLEAV NNIKDAMPKM QIGAPVRQNI DAGERPCLQG 
       110        120        130        140        150
YYTAAELKPV LDRPPQDSNA PGASGKAFKT TNLSVEEQKE KERGEAKHCF 
       160        170        180        190        200
NAFASDRISL HRDLGPDTRP PECIEQKFKR CPPLPTTSVI IVFHNEAWST 
       210        220        230        240        250
LLRTVHSVLY SSPAILLKEI ILVDDASVDE YLHDKLDEYV KQFSIVKIVR 
       260        270        280        290        300
QRERKGLITA RLLGATVATA ETLTFLDAHC ECFYGWLEPL LARIAENYTA 
       310        320        330        340        350
VVSPDIASID LNTFEFNKPS PYGSNHNRGN FDWSLSFGWE SLPDHEKQRR 
       360        370        380        390        400
KDETYPIKTP TFAGGLFSIS KEYFEYIGSY DEEMEIWGGE NIEMSFRVWQ 
       410        420        430        440        450
CGGQLEIMPC SVVGHVFRSK SPHSFPKGTQ VIARNQVRLA EVWMDEYKEI 
       460        470        480        490        500
FYRRNTDAAK IVKQKAFGDL SKRFEIKHRL QCKNFTWYLN NIYPEVYVPD 
       510        520        530        540        550
LNPVISGYIK SVGQPLCLDV GENNQGGKPL IMYTCHGLGG NQYFEYSAQH 
       560        570        580        590        600
EIRHNIQKEL CLHAAQGLVQ LKACTYKGHK TVVTGEQIWE IQKDQLLYNP 
       610        620        630 
FLKMCLSANG EHPSLVSCNP SDPLQKWILS QND
Length:633
Mass (Da):72,610
Last modified:October 14, 2008 - 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:i3019B2DCCC19A584
GO
Isoform 2 (identifier: Q14435-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     173-192: CIEQKFKRCPPLPTTSVIIV → YVEEYLLFILYHQALQGREG
     193-633: Missing.

Show »
Length:192
Mass (Da):22,212
Checksum:i2EEE40B4D6537601
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 7 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
C9J2C3C9J2C3_HUMAN
Polypeptide N-acetylgalactosaminylt...
GALNT3
464Annotation 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>
C9J388C9J388_HUMAN
Polypeptide N-acetylgalactosaminylt...
GALNT3
90Annotation 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>
C9JXX2C9JXX2_HUMAN
Polypeptide N-acetylgalactosaminylt...
GALNT3
57Annotation 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>
E7EUL0E7EUL0_HUMAN
Polypeptide N-acetylgalactosaminylt...
GALNT3
371Annotation 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>
H7BZS4H7BZS4_HUMAN
Polypeptide N-acetylgalactosaminylt...
GALNT3
89Annotation 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>
C9JW45C9JW45_HUMAN
Polypeptide N-acetylgalactosaminylt...
GALNT3
25Annotation 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>
C9JY57C9JY57_HUMAN
Polypeptide N-acetylgalactosaminylt...
GALNT3
11Annotation 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 AAH56246 differs from that shown. Reason: Erroneous initiation.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 conflicti481Q → R in CAA63371 (PubMed:8663203).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_080832162 – 633Missing in HFTC1. 1 PublicationAdd BLAST472

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_011202173 – 192CIEQK…SVIIV → YVEEYLLFILYHQALQGREG in isoform 2. 1 PublicationAdd BLAST20
Alternative sequenceiVSP_011203193 – 633Missing in isoform 2. 1 PublicationAdd BLAST441

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
X92689 mRNA Translation: CAA63371.1
AC009495 Genomic DNA Translation: AAY14678.1
CH471058 Genomic DNA Translation: EAX11324.1
BC056246 mRNA Translation: AAH56246.1 Different initiation.
BC113565 mRNA Translation: AAI13566.1
BC113567 mRNA Translation: AAI13568.1

The Consensus CDS (CCDS) project

More...CCDSi		CCDS2226.1 [Q14435-1]

NCBI Reference Sequences

More...RefSeqi		NP_004473.2, NM_004482.3 [Q14435-1]
XP_005246506.1, XM_005246449.1 [Q14435-1]
XP_011509231.1, XM_011510929.1 [Q14435-1]
XP_016859259.1, XM_017003770.1 [Q14435-1]

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...Ensembli		ENST00000392701; ENSP00000376465; ENSG00000115339 [Q14435-1]

Database of genes from NCBI RefSeq genomes

More...GeneIDi		2591

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...KEGGi		hsa:2591

UCSC genome browser

More...UCSCi		uc010fph.2, human [Q14435-1]

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%5Freferences%5Fsection">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

Polypeptide N-acetylgalactosaminyltransferase 3

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
X92689 mRNA Translation: CAA63371.1
AC009495 Genomic DNA Translation: AAY14678.1
CH471058 Genomic DNA Translation: EAX11324.1
BC056246 mRNA Translation: AAH56246.1 Different initiation.
BC113565 mRNA Translation: AAI13566.1
BC113567 mRNA Translation: AAI13568.1
CCDSiCCDS2226.1 [Q14435-1]
RefSeqiNP_004473.2, NM_004482.3 [Q14435-1]
XP_005246506.1, XM_005246449.1 [Q14435-1]
XP_011509231.1, XM_011510929.1 [Q14435-1]
XP_016859259.1, XM_017003770.1 [Q14435-1]

3D structure databases

SMRiQ14435
ModBaseiSearch...

Protein-protein interaction databases

BioGRIDi108863, 6 interactors
IntActiQ14435, 6 interactors
STRINGi9606.ENSP00000376465

Protein family/group databases

CAZyiCBM13, Carbohydrate-Binding Module Family 13
GT27, Glycosyltransferase Family 27

PTM databases

GlyConnecti1620, 3 N-Linked glycans (1 site)
GlyGeniQ14435, 3 sites
iPTMnetiQ14435
PhosphoSitePlusiQ14435

Polymorphism and mutation databases

BioMutaiGALNT3
DMDMi209572629

Proteomic databases

EPDiQ14435
jPOSTiQ14435
MassIVEiQ14435
MaxQBiQ14435
PaxDbiQ14435
PeptideAtlasiQ14435
PRIDEiQ14435
ProteomicsDBi59988 [Q14435-1]
59989 [Q14435-2]

Protocols and materials databases

Antibodypedia a portal for validated antibodies

More...Antibodypediai		2358, 165 antibodies

The DNASU plasmid repository

More...DNASUi		2591

Genome annotation databases

EnsembliENST00000392701; ENSP00000376465; ENSG00000115339 [Q14435-1]
GeneIDi2591
KEGGihsa:2591
UCSCiuc010fph.2, human [Q14435-1]

Organism-specific databases

Comparative Toxicogenomics Database

More...CTDi		2591
DisGeNETi2591
EuPathDBiHostDB:ENSG00000115339.13

GeneCards: human genes, protein and diseases

More...GeneCardsi		GALNT3
GeneReviewsiGALNT3
HGNCiHGNC:4125, GALNT3
HPAiENSG00000115339, Low tissue specificity
MalaCardsiGALNT3
MIMi211900, phenotype
601756, gene
neXtProtiNX_Q14435
OpenTargetsiENSG00000115339
Orphaneti306661, Familial hyperphosphatemic tumoral calcinosis/Hyperphosphatemic hyperostosis syndrome
PharmGKBiPA28538

GenAtlas: human gene database

More...GenAtlasi		Search...

Phylogenomic databases

eggNOGiKOG3736, Eukaryota
GeneTreeiENSGT00940000156609
InParanoidiQ14435
KOiK00710
OMAiEYSAHHE
OrthoDBi606683at2759
PhylomeDBiQ14435
TreeFamiTF313267

Enzyme and pathway databases

UniPathwayiUPA00378
BRENDAi2.4.1.41, 2681
PathwayCommonsiQ14435
ReactomeiR-HSA-190372, FGFR3c ligand binding and activation
R-HSA-5083625, Defective GALNT3 causes familial hyperphosphatemic tumoral calcinosis (HFTC)
R-HSA-913709, O-linked glycosylation of mucins

Miscellaneous databases

BioGRID ORCS database of CRISPR phenotype screens

More...BioGRID-ORCSi		2591, 2 hits in 869 CRISPR screens

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

More...ChiTaRSi		GALNT3, human

The Gene Wiki collection of pages on human genes and proteins

More...GeneWikii		GALNT3

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

More...GenomeRNAii		2591
PharosiQ14435, Tbio

Protein Ontology

More...PROi		PR:Q14435
RNActiQ14435, protein

The Stanford Online Universal Resource for Clones and ESTs

More...SOURCEi		Search...

Gene expression databases

BgeeiENSG00000115339, Expressed in colonic mucosa and 188 other tissues
ExpressionAtlasiQ14435, baseline and differential
GenevisibleiQ14435, HS

Family and domain databases

CDDicd00161, RICIN, 1 hit
Gene3Di3.90.550.10, 1 hit
InterProiView protein in InterPro
IPR001173, Glyco_trans_2-like
IPR029044, Nucleotide-diphossugar_trans
IPR035992, Ricin_B-like_lectins
IPR000772, Ricin_B_lectin
PfamiView protein in Pfam
PF00535, Glycos_transf_2, 1 hit
PF00652, Ricin_B_lectin, 1 hit
SMARTiView protein in SMART
SM00458, RICIN, 1 hit
SUPFAMiSSF50370, SSF50370, 1 hit
SSF53448, SSF53448, 1 hit
PROSITEiView protein in PROSITE
PS50231, RICIN_B_LECTIN, 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 nameiGALT3_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: Q14435
Secondary accession number(s): Q53TG9, Q7Z476
<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%5Fand%5Fisoforms">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, 2004
Last sequence update: October 14, 2008
Last modified: August 12, 2020
This is version 179 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

Reference proteome

Documents

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