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Protein

Exostosin-like 2

Gene

EXTL2

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -Experimental evidence at protein leveli

Functioni

Glycosyltransferase required for the biosynthesis of heparan-sulfate and responsible for the alternating addition of beta-1-4-linked glucuronic acid (GlcA) and alpha-1-4-linked N-acetylglucosamine (GlcNAc) units to nascent heparan sulfate chains.1 Publication

Catalytic activityi

UDP-N-acetyl-alpha-D-glucosamine + [protein]-3-O-(beta-D-GlcA-(1->3)-beta-D-Gal-(1->3)-beta-D-Gal-(1->4)-beta-D-Xyl)-L-serine = UDP + [protein]-3-O-(alpha-D-GlcNAc-(1->4)-beta-D-GlcA-(1->3)-beta-D-Gal-(1->3)-beta-D-Gal-(1->4)-beta-D-Xyl)-L-serine.By similarity

Cofactori

Mn2+By similarity

Pathwayi: heparan sulfate biosynthesis

This protein is involved in the pathway heparan sulfate biosynthesis, which is part of Glycan metabolism.
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
Binding sitei100SubstrateBy similarity1
Metal bindingi152Manganese; catalyticBy similarity1
Binding sitei180SubstrateBy similarity1
Active sitei245By similarity1

GO - Molecular functioni

GO - Biological processi

Keywordsi

Molecular functionGlycosyltransferase, Transferase
LigandManganese, Metal-binding

Enzyme and pathway databases

BioCyciMetaCyc:HS08719-MONOMER
ReactomeiR-HSA-381038 XBP1(S) activates chaperone genes
UniPathwayi
UPA00756

Protein family/group databases

CAZyiGT64 Glycosyltransferase Family 64

Names & Taxonomyi

Protein namesi
Recommended name:
Exostosin-like 2 (EC:2.4.1.223By similarity)
Alternative name(s):
Alpha-1,4-N-acetylhexosaminyltransferase EXTL2
Alpha-GalNAcT EXTL2
EXT-related protein 2
Glucuronyl-galactosyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase
Cleaved into the following chain:
Gene namesi
Name:EXTL2
Synonyms:EXTR2
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 1

Organism-specific databases

EuPathDBiHostDB:ENSG00000162694.13
HGNCiHGNC:3516 EXTL2
MIMi602411 gene
neXtProtiNX_Q9UBQ6

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
Topological domaini1 – 22CytoplasmicSequence analysisAdd BLAST22
Transmembranei23 – 43Helical; Signal-anchor for type II membrane proteinSequence analysisAdd BLAST21
Topological domaini44 – 330LumenalSequence analysisAdd BLAST287

Keywords - Cellular componenti

Endoplasmic reticulum, Membrane, Secreted

Pathology & Biotechi

Organism-specific databases

DisGeNETi2135
OpenTargetsiENSG00000162694
PharmGKBiPA27928

Chemistry databases

DrugBankiDB03435 Uridine-5'-Diphosphate
DB02196 Uridine-Diphosphate-N-Acetylgalactosamine
DB03397 Uridine-Diphosphate-N-Acetylglucosamine

Polymorphism and mutation databases

BioMutaiEXTL2
DMDMi9296986

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_0000296227? – 330Processed exostosin-like 2
ChainiPRO_00001496551 – 330Exostosin-like 2Add BLAST330

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Glycosylationi74N-linked (GlcNAc...) asparagine1
Disulfide bondi243 ↔ 296By similarity

Post-translational modificationi

The soluble form derives from the membrane form by proteolytic processing.

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sitei53 – 54Cleavage2

Keywords - PTMi

Disulfide bond, Glycoprotein

Proteomic databases

EPDiQ9UBQ6
MaxQBiQ9UBQ6
PaxDbiQ9UBQ6
PeptideAtlasiQ9UBQ6
PRIDEiQ9UBQ6
ProteomicsDBi84033

PTM databases

iPTMnetiQ9UBQ6
PhosphoSitePlusiQ9UBQ6
SwissPalmiQ9UBQ6

Expressioni

Tissue specificityi

Ubiquitous.

Gene expression databases

BgeeiENSG00000162694 Expressed in 217 organ(s), highest expression level in adrenal tissue
CleanExiHS_EXTL2
ExpressionAtlasiQ9UBQ6 baseline and differential
GenevisibleiQ9UBQ6 HS

Organism-specific databases

HPAiCAB020716
HPA068921

Interactioni

Protein-protein interaction databases

BioGridi108436, 21 interactors
STRINGi9606.ENSP00000359131

Structurei

3D structure databases

ProteinModelPortaliQ9UBQ6
SMRiQ9UBQ6
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Regioni129 – 134Substrate bindingBy similarity6
Regioni150 – 152Substrate bindingBy similarity3
Regioni241 – 245Substrate bindingBy similarity5
Regioni280 – 293Substrate bindingBy similarityAdd BLAST14

Sequence similaritiesi

Belongs to the glycosyltransferase 47 family.Curated

Keywords - Domaini

Signal-anchor, Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiKOG1022 Eukaryota
ENOG410XQYV LUCA
GeneTreeiENSGT00550000074496
HOGENOMiHOG000054215
HOVERGENiHBG051525
InParanoidiQ9UBQ6
KOiK02369
OMAiQTTNRMR
OrthoDBiEOG091G0A1H
PhylomeDBiQ9UBQ6
TreeFamiTF314231

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
PF09258 Glyco_transf_64, 1 hit
SUPFAMiSSF53448 SSF53448, 1 hit

Sequence (1+)i

Sequence statusi: Complete.

Sequence processingi: The displayed sequence is further processed into a mature form.

This entry has 1 described isoform and 3 potential isoforms that are computationally mapped.Show allAlign All

Q9UBQ6-1 [UniParc]FASTAAdd to basket
« Hide
        10         20         30         40         50
MRCCHICKLP GRVMGIRVLR LSLVVILVLL LVAGALTALL PSVKEDKMLM
60 70 80 90 100
LRREIKSQGK STMDSFTLIM QTYNRTDLLL KLLNHYQAVP NLHKVIVVWN
110 120 130 140 150
NIGEKAPDEL WNSLGPHPIP VIFKQQTANR MRNRLQVFPE LETNAVLMVD
160 170 180 190 200
DDTLISTPDL VFAFSVWQQF PDQIVGFVPR KHVSTSSGIY SYGSFEMQAP
210 220 230 240 250
GSGNGDQYSM VLIGASFFNS KYLELFQRQP AAVHALIDDT QNCDDIAMNF
260 270 280 290 300
IIAKHIGKTS GIFVKPVNMD NLEKETNSGY SGMWHRAEHA LQRSYCINKL
310 320 330
VNIYDSMPLR YSNIMISQFG FPYANYKRKI
Length:330
Mass (Da):37,466
Last modified:May 1, 2000 - v1
Checksum:i6976BE7EC6F588C8
GO

Computationally mapped potential isoform sequencesi

There are 3 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
C9IYF5C9IYF5_HUMAN
Exostosin-like 2
EXTL2
117Annotation score:
F5GZK1F5GZK1_HUMAN
Exostosin-like 2
EXTL2
147Annotation score:
C9JEG3C9JEG3_HUMAN
Exostosin-like 2
EXTL2
266Annotation score:

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF000416 mRNA Translation: AAC02898.1
AB009284 mRNA Translation: BAA24081.1
AK312895 mRNA Translation: BAG35742.1
CH471097 Genomic DNA Translation: EAW72946.1
CH471097 Genomic DNA Translation: EAW72948.1
CCDSiCCDS775.1
PIRiJC5935
RefSeqiNP_001028197.1, NM_001033025.2
NP_001430.1, NM_001439.3
XP_005270678.1, XM_005270621.1
UniGeneiHs.357637

Genome annotation databases

EnsembliENST00000370113; ENSP00000359131; ENSG00000162694
ENST00000370114; ENSP00000359132; ENSG00000162694
GeneIDi2135
KEGGihsa:2135
UCSCiuc001dtk.3 human

Similar proteinsi

Cross-referencesi

Web resourcesi

Functional Glycomics Gateway - GTase

Exostosin-like 2

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF000416 mRNA Translation: AAC02898.1
AB009284 mRNA Translation: BAA24081.1
AK312895 mRNA Translation: BAG35742.1
CH471097 Genomic DNA Translation: EAW72946.1
CH471097 Genomic DNA Translation: EAW72948.1
CCDSiCCDS775.1
PIRiJC5935
RefSeqiNP_001028197.1, NM_001033025.2
NP_001430.1, NM_001439.3
XP_005270678.1, XM_005270621.1
UniGeneiHs.357637

3D structure databases

ProteinModelPortaliQ9UBQ6
SMRiQ9UBQ6
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi108436, 21 interactors
STRINGi9606.ENSP00000359131

Chemistry databases

DrugBankiDB03435 Uridine-5'-Diphosphate
DB02196 Uridine-Diphosphate-N-Acetylgalactosamine
DB03397 Uridine-Diphosphate-N-Acetylglucosamine

Protein family/group databases

CAZyiGT64 Glycosyltransferase Family 64

PTM databases

iPTMnetiQ9UBQ6
PhosphoSitePlusiQ9UBQ6
SwissPalmiQ9UBQ6

Polymorphism and mutation databases

BioMutaiEXTL2
DMDMi9296986

Proteomic databases

EPDiQ9UBQ6
MaxQBiQ9UBQ6
PaxDbiQ9UBQ6
PeptideAtlasiQ9UBQ6
PRIDEiQ9UBQ6
ProteomicsDBi84033

Protocols and materials databases

DNASUi2135
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000370113; ENSP00000359131; ENSG00000162694
ENST00000370114; ENSP00000359132; ENSG00000162694
GeneIDi2135
KEGGihsa:2135
UCSCiuc001dtk.3 human

Organism-specific databases

CTDi2135
DisGeNETi2135
EuPathDBiHostDB:ENSG00000162694.13
GeneCardsiEXTL2
HGNCiHGNC:3516 EXTL2
HPAiCAB020716
HPA068921
MIMi602411 gene
neXtProtiNX_Q9UBQ6
OpenTargetsiENSG00000162694
PharmGKBiPA27928
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG1022 Eukaryota
ENOG410XQYV LUCA
GeneTreeiENSGT00550000074496
HOGENOMiHOG000054215
HOVERGENiHBG051525
InParanoidiQ9UBQ6
KOiK02369
OMAiQTTNRMR
OrthoDBiEOG091G0A1H
PhylomeDBiQ9UBQ6
TreeFamiTF314231

Enzyme and pathway databases

UniPathwayi
UPA00756

BioCyciMetaCyc:HS08719-MONOMER
ReactomeiR-HSA-381038 XBP1(S) activates chaperone genes

Miscellaneous databases

ChiTaRSiEXTL2 human
GeneWikiiEXTL2
GenomeRNAii2135
PROiPR:Q9UBQ6
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000162694 Expressed in 217 organ(s), highest expression level in adrenal tissue
CleanExiHS_EXTL2
ExpressionAtlasiQ9UBQ6 baseline and differential
GenevisibleiQ9UBQ6 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
PF09258 Glyco_transf_64, 1 hit
SUPFAMiSSF53448 SSF53448, 1 hit
ProtoNetiSearch...

Entry informationi

Entry nameiEXTL2_HUMAN
AccessioniPrimary (citable) accession number: Q9UBQ6
Secondary accession number(s): B2R795, D3DT60
Entry historyiIntegrated into UniProtKB/Swiss-Prot: December 1, 2000
Last sequence update: May 1, 2000
Last modified: November 7, 2018
This is version 159 of the entry and version 1 of the sequence. See complete history.
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.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Direct protein sequencing, Reference proteome

Documents

  1. SIMILARITY comments
    Index of protein domains and families
  2. Human chromosome 1
    Human chromosome 1: entries, gene names and cross-references to MIM
  3. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  4. PATHWAY comments
    Index of metabolic and biosynthesis pathways
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Main funding by: National Institutes of Health

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