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UniProtKB - O43909 (EXTL3_HUMAN)

Protein

Exostosin-like 3

Gene

EXTL3

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

Glycosyltransferase which regulates the biosynthesis of heparan sulfate (HS). Important for both skeletal development and hematopoiesis, through the formation of HS proteoglycans (HSPGs) (PubMed:28132690, PubMed:28148688). Required for the function of REG3A in regulating keratinocyte proliferation and differentiation (PubMed:22727489).3 Publications

Caution

It is uncertain whether Met-1, Met-6 or Met-20 is the initiator.Curated

<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+By similarity

<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: heparan sulfate biosynthesis

This protein is involved in the pathway heparan sulfate biosynthesis, which is part of Glycan metabolism.2 Publications
View all proteins of this organism that are known to be involved in the pathway heparan sulfate biosynthesis and in Glycan metabolism.

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Function’ 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 sitei697SubstrateBy similarity1
<p>This subsection of the ‘Function’ 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 bindingi746Manganese; catalyticBy similarity1
Binding sitei774SubstrateBy similarity1
<p>This subsection of the ‘Function’ section is used for enzymes and indicates the residues directly involved in catalysis.<p><a href='/help/act_site' target='_top'>More...</a></p>Active sitei833By 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

View the complete GO annotation on QuickGO ...

GO - Biological processi

View the 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
LigandManganese, Metal-binding

Enzyme and pathway databases

BioCyc Collection of Pathway/Genome Databases

More...BioCyci		MetaCyc:HS00333-MONOMER

Reactome - a knowledgebase of biological pathways and processes

More...Reactomei		R-HSA-381038 XBP1(S) activates chaperone genes

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

More...UniPathwayi
UPA00756

Protein family/group databases

Carbohydrate-Active enZymes

More...CAZyi		GT47 Glycosyltransferase Family 47
GT64 Glycosyltransferase Family 64

<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:
Exostosin-like 31 Publication (EC:2.4.1.2232 Publications)
Alternative name(s):
EXT-related protein 11 Publication
Glucuronyl-galactosyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase
Hereditary multiple exostoses gene isolog1 Publication
Multiple exostosis-like protein 31 Publication
Putative tumor suppressor protein EXTL31 Publication
<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:EXTL31 PublicationImported
Synonyms:EXTL1L, EXTR1, KIAA0519
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the ‘taxonomic identifier’ or ‘taxid’.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes_manual">proteome</a> can consist of several components. <br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome 8

Organism-specific databases

Eukaryotic Pathogen Database Resources

More...EuPathDBi		HostDB:ENSG00000012232.8

Human Gene Nomenclature Database

More...HGNCi		HGNC:3518 EXTL3

Online Mendelian Inheritance in Man (OMIM)

More...MIMi		605744 gene

neXtProt; the human protein knowledge platform

More...neXtProti		NX_O43909

<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; Source: COMPARTMENTS

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 – 30CytoplasmicSequence analysisAdd BLAST30
<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>Transmembranei31 – 51Helical; Signal-anchor for type II membrane proteinSequence analysisAdd BLAST21
Topological domaini52 – 919LumenalSequence analysisAdd BLAST868

Keywords - Cellular componenti

Endoplasmic reticulum, 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

Immunoskeletal dysplasia with neurodevelopmental abnormalities (ISDNA)2 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionAn autosomal recessive disorder characterized by variable skeletal abnormalities and neurodevelopmental defects. Neurologic manifestations include intellectual disability and motor delay. Some patients manifest hypotonia and seizures. Skeletal features include disproportionate short stature, cervical malformations, epiphyseal and metaphyseal dysplasia, and rarely premature craniosynostosis with progressive microcephaly. Severe combined immunodeficiency with a complete absence of T cells is observed in some patients.
See also OMIM:617425
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_079089339R → W in ISDNA; changed glycosaminoglycan synthesis. 1 PublicationCorresponds to variant dbSNP:rs747676107EnsemblClinVar.1
Natural variantiVAR_079091461P → L in ISDNA; changed glycosaminoglycan synthesis. 2 PublicationsCorresponds to variant dbSNP:rs554294508EnsemblClinVar.1
Natural variantiVAR_079092513R → C in ISDNA; changed glycosaminoglycan synthesis; no localization to Golgi apparatus in patient fibroblasts. 1 PublicationCorresponds to variant dbSNP:rs1332006145Ensembl.1
Natural variantiVAR_079093657N → S in ISDNA; changed glycosaminoglycan synthesis. 1 PublicationCorresponds to variant dbSNP:rs770842408EnsemblClinVar.1
Natural variantiVAR_079094670Y → D in ISDNA; changed glycosaminoglycan synthesis. 1 Publication1

Keywords - Diseasei

Disease mutation, Dwarfism, Mental retardation

Organism-specific databases

DisGeNET

More...DisGeNETi		2137

MalaCards human disease database

More...MalaCardsi		EXTL3
MIMi617425 phenotype

Open Targets

More...OpenTargetsi		ENSG00000012232

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

More...Orphaneti		508533 Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...PharmGKBi		PA27930

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...BioMutai		EXTL3

<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.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00001496571 – 919Exostosin-like 3Add BLAST919

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/ptm_processing_section">PTM / Processing</a> section specifies the position and type of each covalently attached glycan group (mono-, di-, or polysaccharide).<p><a href='/help/carbohyd' target='_top'>More...</a></p>Glycosylationi277N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi290N-linked (GlcNAc...) asparagineSequence analysis1
<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 residuei362PhosphoserineBy similarity1
Glycosylationi592N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi790N-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 bondi831 ↔ 879By similarity

Keywords - PTMi

Disulfide bond, Glycoprotein, Phosphoprotein

Proteomic databases

Encyclopedia of Proteome Dynamics

More...EPDi		O43909

jPOST - Japan Proteome Standard Repository/Database

More...jPOSTi		O43909

MaxQB - The MaxQuant DataBase

More...MaxQBi		O43909

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

More...PaxDbi		O43909

PeptideAtlas

More...PeptideAtlasi		O43909

PRoteomics IDEntifications database

More...PRIDEi		O43909

ProteomicsDB human proteome resource

More...ProteomicsDBi		49226

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...iPTMneti		O43909

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

More...PhosphoSitePlusi		O43909

<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

Ubiquitous. Expressed in keratinocytes.1 Publication

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...Bgeei		ENSG00000012232 Expressed in 170 organ(s), highest expression level in heart left ventricle

CleanEx database of gene expression profiles

More...CleanExi		HS_EXTL3

ExpressionAtlas, Differential and Baseline Expression

More...ExpressionAtlasi		O43909 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...Genevisiblei		O43909 HS

Organism-specific databases

Human Protein Atlas

More...HPAi		CAB025387

<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 REG3A.1 Publication

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

More...BioGridi		108438, 47 interactors

Protein interaction database and analysis system

More...IntActi		O43909, 8 interactors

STRING: functional protein association networks

More...STRINGi		9606.ENSP00000220562

<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

Protein Model Portal of the PSI-Nature Structural Biology Knowledgebase

More...ProteinModelPortali		O43909

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

More...SMRi		O43909

Database of comparative protein structure models

More...ModBasei		Search...

MobiDB: a database of protein disorder and mobility annotations

More...MobiDBi		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>Regioni723 – 728Substrate bindingBy similarity6
Regioni744 – 746Substrate bindingBy similarity3
Regioni829 – 833Substrate bindingBy similarity5

<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 47 family.Curated

Keywords - Domaini

Signal-anchor, Transmembrane, Transmembrane helix

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...eggNOGi		KOG2264 Eukaryota
ENOG410XNPM LUCA

Ensembl GeneTree

More...GeneTreei		ENSGT00940000156692

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...HOGENOMi		HOG000007975

The HOVERGEN Database of Homologous Vertebrate Genes

More...HOVERGENi		HBG051526

InParanoid: Eukaryotic Ortholog Groups

More...InParanoidi		O43909

KEGG Orthology (KO)

More...KOi		K02370

Identification of Orthologs from Complete Genome Data

More...OMAi		RKSDTQN

Database for complete collections of gene phylogenies

More...PhylomeDBi		O43909

TreeFam database of animal gene trees

More...TreeFami		TF314231

Family and domain databases

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
IPR004263 Exostosin
IPR015338 EXT_C
IPR029044 Nucleotide-diphossugar_trans

The PANTHER Classification System

More...PANTHERi		PTHR11062 PTHR11062, 1 hit

Pfam protein domain database

More...Pfami		View protein in Pfam
PF03016 Exostosin, 1 hit
PF09258 Glyco_transf_64, 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>.<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequence (1+)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 has 1 described isoform and 5 potential isoforms that are computationally mapped.Show allAlign All

O43909-1 [UniParc]FASTAAdd to basket
« Hide
        10         20         30         40         50
MTGYTMLRNG GAGNGGQTCM LRWSNRIRLT WLSFTLFVIL VFFPLIAHYY 
        60         70         80         90        100
LTTLDEADEA GKRIFGPRVG NELCEVKHVL DLCRIRESVS EELLQLEAKR 
       110        120        130        140        150
QELNSEIAKL NLKIEACKKS IENAKQDLLQ LKNVISQTEH SYKELMAQNQ 
       160        170        180        190        200
PKLSLPIRLL PEKDDAGLPP PKATRGCRLH NCFDYSRCPL TSGFPVYVYD 
       210        220        230        240        250
SDQFVFGSYL DPLVKQAFQA TARANVYVTE NADIACLYVI LVGEMQEPVV 
       260        270        280        290        300
LRPAELEKQL YSLPHWRTDG HNHVIINLSR KSDTQNLLYN VSTGRAMVAQ 
       310        320        330        340        350
STFYTVQYRP GFDLVVSPLV HAMSEPNFME IPPQVPVKRK YLFTFQGEKI 
       360        370        380        390        400
ESLRSSLQEA RSFEEEMEGD PPADYDDRII ATLKAVQDSK LDQVLVEFTC 
       410        420        430        440        450
KNQPKPSLPT EWALCGERED RLELLKLSTF ALIITPGDPR LVISSGCATR 
       460        470        480        490        500
LFEALEVGAV PVVLGEQVQL PYQDMLQWNE AALVVPKPRV TEVHFLLRSL 
       510        520        530        540        550
SDSDLLAMRR QGRFLWETYF STADSIFNTV LAMIRTRIQI PAAPIREEAA 
       560        570        580        590        600
AEIPHRSGKA AGTDPNMADN GDLDLGPVET EPPYASPRYL RNFTLTVTDF 
       610        620        630        640        650
YRSWNCAPGP FHLFPHTPFD PVLPSEAKFL GSGTGFRPIG GGAGGSGKEF 
       660        670        680        690        700
QAALGGNVPR EQFTVVMLTY EREEVLMNSL ERLNGLPYLN KVVVVWNSPK 
       710        720        730        740        750
LPSEDLLWPD IGVPIMVVRT EKNSLNNRFL PWNEIETEAI LSIDDDAHLR 
       760        770        780        790        800
HDEIMFGFRV WREARDRIVG FPGRYHAWDI PHQSWLYNSN YSCELSMVLT 
       810        820        830        840        850
GAAFFHKYYA YLYSYVMPQA IRDMVDEYIN CEDIAMNFLV SHITRKPPIK 
       860        870        880        890        900
VTSRWTFRCP GCPQALSHDD SHFHERHKCI NFFVKVYGYM PLLYTQFRVD 
       910 
SVLFKTRLPH DKTKCFKFI
Length:919
Mass (Da):104,749
Last modified:June 1, 1998 - v1
<p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> Checksum:i200ADD4DAB4A39FD
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 5 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
E7ET85E7ET85_HUMAN
Exostosin-like 3
EXTL3
535Annotation 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>
H0YBJ7H0YBJ7_HUMAN
Exostosin-like 3
EXTL3
201Annotation 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>
E5RK02E5RK02_HUMAN
Exostosin-like 3
EXTL3
137Annotation 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>
H0YB01H0YB01_HUMAN
Exostosin-like 3
EXTL3
75Annotation 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>
E5RIV6E5RIV6_HUMAN
Exostosin-like 3
EXTL3
118Annotation 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 BAA25445 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened.Curated

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_079089339R → W in ISDNA; changed glycosaminoglycan synthesis. 1 PublicationCorresponds to variant dbSNP:rs747676107EnsemblClinVar.1
Natural variantiVAR_079090442V → L1 PublicationCorresponds to variant dbSNP:rs116659770EnsemblClinVar.1
Natural variantiVAR_079091461P → L in ISDNA; changed glycosaminoglycan synthesis. 2 PublicationsCorresponds to variant dbSNP:rs554294508EnsemblClinVar.1
Natural variantiVAR_079092513R → C in ISDNA; changed glycosaminoglycan synthesis; no localization to Golgi apparatus in patient fibroblasts. 1 PublicationCorresponds to variant dbSNP:rs1332006145Ensembl.1
Natural variantiVAR_061194550A → V. Corresponds to variant dbSNP:rs35781576Ensembl.1
Natural variantiVAR_080762646S → C Found in a small consanguineous family with intellectual disability; unknown pathological significance. 1 Publication1
Natural variantiVAR_079093657N → S in ISDNA; changed glycosaminoglycan synthesis. 1 PublicationCorresponds to variant dbSNP:rs770842408EnsemblClinVar.1
Natural variantiVAR_079094670Y → D in ISDNA; changed glycosaminoglycan synthesis. 1 Publication1
Natural variantiVAR_049229706L → P. Corresponds to variant dbSNP:rs2269452Ensembl.1

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
AF001690 mRNA Translation: AAC39598.1
U76188 mRNA Translation: AAB93670.1
AB007042 mRNA Translation: BAA24080.1
AB011091 mRNA Translation: BAA25445.2 Different initiation.
AF029231 mRNA Translation: AAD01877.1
AF083551 mRNA Translation: AAD42041.1
BT007353 mRNA Translation: AAP36017.1
CH471080 Genomic DNA Translation: EAW63507.1
CH471080 Genomic DNA Translation: EAW63508.1
CH471080 Genomic DNA Translation: EAW63509.1
BC006363 mRNA Translation: AAH06363.1
U96629 Genomic DNA Translation: AAB67602.1 Sequence problems.

The Consensus CDS (CCDS) project

More...CCDSi		CCDS6070.1

Protein sequence database of the Protein Information Resource

More...PIRi		JC5934

NCBI Reference Sequences

More...RefSeqi		NP_001431.1, NM_001440.3
XP_011542742.1, XM_011544440.2

UniGene gene-oriented nucleotide sequence clusters

More...UniGenei		Hs.491354
Hs.744019

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...Ensembli		ENST00000220562; ENSP00000220562; ENSG00000012232

Database of genes from NCBI RefSeq genomes

More...GeneIDi		2137

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...KEGGi		hsa:2137

UCSC genome browser

More...UCSCi		uc003xgz.3 human

Keywords - Coding sequence diversityi

Polymorphism

<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

Exostosin-like 3

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF001690 mRNA Translation: AAC39598.1
U76188 mRNA Translation: AAB93670.1
AB007042 mRNA Translation: BAA24080.1
AB011091 mRNA Translation: BAA25445.2 Different initiation.
AF029231 mRNA Translation: AAD01877.1
AF083551 mRNA Translation: AAD42041.1
BT007353 mRNA Translation: AAP36017.1
CH471080 Genomic DNA Translation: EAW63507.1
CH471080 Genomic DNA Translation: EAW63508.1
CH471080 Genomic DNA Translation: EAW63509.1
BC006363 mRNA Translation: AAH06363.1
U96629 Genomic DNA Translation: AAB67602.1 Sequence problems.
CCDSiCCDS6070.1
PIRiJC5934
RefSeqiNP_001431.1, NM_001440.3
XP_011542742.1, XM_011544440.2
UniGeneiHs.491354
Hs.744019

3D structure databases

ProteinModelPortaliO43909
SMRiO43909
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi108438, 47 interactors
IntActiO43909, 8 interactors
STRINGi9606.ENSP00000220562

Protein family/group databases

CAZyiGT47 Glycosyltransferase Family 47
GT64 Glycosyltransferase Family 64

PTM databases

iPTMnetiO43909
PhosphoSitePlusiO43909

Polymorphism and mutation databases

BioMutaiEXTL3

Proteomic databases

EPDiO43909
jPOSTiO43909
MaxQBiO43909
PaxDbiO43909
PeptideAtlasiO43909
PRIDEiO43909
ProteomicsDBi49226

Protocols and materials databases

The DNASU plasmid repository

More...DNASUi		2137
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000220562; ENSP00000220562; ENSG00000012232
GeneIDi2137
KEGGihsa:2137
UCSCiuc003xgz.3 human

Organism-specific databases

Comparative Toxicogenomics Database

More...CTDi		2137
DisGeNETi2137
EuPathDBiHostDB:ENSG00000012232.8

GeneCards: human genes, protein and diseases

More...GeneCardsi		EXTL3
HGNCiHGNC:3518 EXTL3
HPAiCAB025387
MalaCardsiEXTL3
MIMi605744 gene
617425 phenotype
neXtProtiNX_O43909
OpenTargetsiENSG00000012232
Orphaneti508533 Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome
PharmGKBiPA27930

Human Unidentified Gene-Encoded large proteins database

More...HUGEi		Search...

GenAtlas: human gene database

More...GenAtlasi		Search...

Phylogenomic databases

eggNOGiKOG2264 Eukaryota
ENOG410XNPM LUCA
GeneTreeiENSGT00940000156692
HOGENOMiHOG000007975
HOVERGENiHBG051526
InParanoidiO43909
KOiK02370
OMAiRKSDTQN
PhylomeDBiO43909
TreeFamiTF314231

Enzyme and pathway databases

UniPathwayi
UPA00756

BioCyciMetaCyc:HS00333-MONOMER
ReactomeiR-HSA-381038 XBP1(S) activates chaperone genes

Miscellaneous databases

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

More...ChiTaRSi		EXTL3 human

The Gene Wiki collection of pages on human genes and proteins

More...GeneWikii		EXTL3

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

More...GenomeRNAii		2137

Protein Ontology

More...PROi		PR:O43909

The Stanford Online Universal Resource for Clones and ESTs

More...SOURCEi		Search...

Gene expression databases

BgeeiENSG00000012232 Expressed in 170 organ(s), highest expression level in heart left ventricle
CleanExiHS_EXTL3
ExpressionAtlasiO43909 baseline and differential
GenevisibleiO43909 HS

Family and domain databases

Gene3Di3.90.550.10, 1 hit
InterProiView protein in InterPro
IPR004263 Exostosin
IPR015338 EXT_C
IPR029044 Nucleotide-diphossugar_trans
PANTHERiPTHR11062 PTHR11062, 1 hit
PfamiView protein in Pfam
PF03016 Exostosin, 1 hit
PF09258 Glyco_transf_64, 1 hit
SUPFAMiSSF53448 SSF53448, 1 hit

ProtoNet; Automatic hierarchical classification of proteins

More...ProtoNeti		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 nameiEXTL3_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: O43909
Secondary accession number(s): D3DST8, O00225, Q53XT3
<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: July 15, 1999
Last sequence update: June 1, 1998
Last modified: January 16, 2019
This is version 175 of the entry and version 1 of the sequence. See complete history.
<p>This subsection of the ‘Entry information’ section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

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

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. SIMILARITY comments
    Index of protein domains and families
  2. Human chromosome 8
    Human chromosome 8: entries, gene names and cross-references to MIM
  3. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  4. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  5. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  6. PATHWAY comments
    Index of metabolic and biosynthesis pathways
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