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Protein

Exostosin-like 2

Gene

EXTL2

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-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-D-glucosamine + beta-D-glucuronosyl-(1->3)-beta-D-galactosyl-(1->3)-beta-D-galactosyl-(1->4)-beta-D-xylosyl-proteoglycan = UDP + alpha-N-acetyl-D-glucosaminyl-(1->4)-beta-D-glucuronosyl-(1->3)-beta-D-galactosyl-(1->3)-beta-D-galactosyl-(1->4)-beta-D-xylosyl-proteoglycan.

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

Complete GO annotation...

Keywords - Molecular functioni

Glycosyltransferase, Transferase

Keywords - Ligandi

Manganese, Metal-binding

Enzyme and pathway databases

BioCyciMetaCyc:HS08719-MONOMER.
ZFISH:HS08719-MONOMER.
UniPathwayiUPA00756.

Protein family/group databases

CAZyiGT64. Glycosyltransferase Family 64.

Names & Taxonomyi

Protein namesi
Recommended name:
Exostosin-like 2 (EC:2.4.1.223)
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

HGNCiHGNC:3516. EXTL2.

Subcellular locationi

Processed exostosin-like 2 :
  • Secreted

  • Note: A soluble form is found in the serum.

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

GO - Cellular componenti

  • endoplasmic reticulum Source: BHF-UCL
  • endoplasmic reticulum membrane Source: UniProtKB-SubCell
  • extracellular exosome Source: UniProtKB
  • integral component of membrane Source: UniProtKB-KW
Complete GO annotation...

Keywords - Cellular componenti

Endoplasmic reticulum, Membrane, Secreted

Pathology & Biotechi

Organism-specific databases

DisGeNETi2135.
OpenTargetsiENSG00000162694.
PharmGKBiPA27928.

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...)1
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.

PTM databases

iPTMnetiQ9UBQ6.
PhosphoSitePlusiQ9UBQ6.
SwissPalmiQ9UBQ6.

Expressioni

Tissue specificityi

Ubiquitous.

Gene expression databases

BgeeiENSG00000162694.
CleanExiHS_EXTL2.
ExpressionAtlasiQ9UBQ6. baseline and differential.
GenevisibleiQ9UBQ6. HS.

Organism-specific databases

HPAiCAB020716.
HPA068921.

Interactioni

Protein-protein interaction databases

BioGridi108436. 16 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.
OMAiWHRAEHA.
OrthoDBiEOG091G0A1H.
PhylomeDBiQ9UBQ6.
TreeFamiTF314231.

Family and domain databases

Gene3Di3.90.550.10. 1 hit.
InterProiIPR015338. EXT_C.
IPR029044. Nucleotide-diphossugar_trans.
[Graphical view]
PfamiPF09258. Glyco_transf_64. 1 hit.
[Graphical view]
SUPFAMiSSF53448. SSF53448. 1 hit.

Sequencei

Sequence statusi: Complete.

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

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

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.

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. 16 interactors.
STRINGi9606.ENSP00000359131.

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.

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.
GeneCardsiEXTL2.
HGNCiHGNC:3516. EXTL2.
HPAiCAB020716.
HPA068921.
MIMi602411. gene.
neXtProtiNX_Q9UBQ6.
OpenTargetsiENSG00000162694.
PharmGKBiPA27928.
GenAtlasiSearch...

Phylogenomic databases

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

Enzyme and pathway databases

UniPathwayiUPA00756.
BioCyciMetaCyc:HS08719-MONOMER.
ZFISH:HS08719-MONOMER.

Miscellaneous databases

ChiTaRSiEXTL2. human.
GeneWikiiEXTL2.
GenomeRNAii2135.
PROiQ9UBQ6.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000162694.
CleanExiHS_EXTL2.
ExpressionAtlasiQ9UBQ6. baseline and differential.
GenevisibleiQ9UBQ6. HS.

Family and domain databases

Gene3Di3.90.550.10. 1 hit.
InterProiIPR015338. EXT_C.
IPR029044. Nucleotide-diphossugar_trans.
[Graphical view]
PfamiPF09258. Glyco_transf_64. 1 hit.
[Graphical view]
SUPFAMiSSF53448. SSF53448. 1 hit.
ProtoNetiSearch...

Entry informationi

Entry nameiEXTL2_HUMAN
AccessioniPrimary (citable) accession number: Q9UBQ6
Secondary accession number(s): B2R795, D3DT60
Entry historyi
Integrated into UniProtKB/Swiss-Prot: December 1, 2000
Last sequence update: May 1, 2000
Last modified: November 2, 2016
This is version 146 of the entry and version 1 of the sequence. [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. Human chromosome 1
    Human chromosome 1: entries, gene names and cross-references to MIM
  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

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.