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Protein

Exostosin-like 3

Gene

EXTL3

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-Experimental evidence at protein leveli

Functioni

Probable glycosyltransferase (By similarity). Required for the function of REG3A in regulating keratinocyte proliferation and differentiation.By similarity1 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)LengthDescriptionGraphical viewFeature identifierActions
Binding sitei697 – 6971SubstrateBy similarity
Metal bindingi746 – 7461Manganese; catalyticBy similarity
Binding sitei774 – 7741SubstrateBy similarity
Active sitei833 – 8331By similarity

GO - Molecular functioni

GO - Biological processi

Complete GO annotation...

Keywords - Molecular functioni

Glycosyltransferase, Transferase

Keywords - Ligandi

Manganese, Metal-binding

Enzyme and pathway databases

BioCyciMetaCyc:HS00333-MONOMER.
ReactomeiR-HSA-381038. XBP1(S) activates chaperone genes.
UniPathwayiUPA00756.

Protein family/group databases

CAZyiGT47. Glycosyltransferase Family 47.
GT64. Glycosyltransferase Family 64.

Names & Taxonomyi

Protein namesi
Recommended name:
Exostosin-like 3 (EC:2.4.1.223)
Alternative name(s):
EXT-related protein 1
Glucuronyl-galactosyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase
Hereditary multiple exostoses gene isolog
Multiple exostosis-like protein 3
Putative tumor suppressor protein EXTL3
Gene namesi
Name:EXTL3
Synonyms:EXTL1L, EXTR1, KIAA0519
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 8

Organism-specific databases

HGNCiHGNC:3518. EXTL3.

Subcellular locationi

Topology

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Topological domaini1 – 3030CytoplasmicSequence analysisAdd
BLAST
Transmembranei31 – 5121Helical; Signal-anchor for type II membrane proteinSequence analysisAdd
BLAST
Topological domaini52 – 919868LumenalSequence analysisAdd
BLAST

GO - Cellular componenti

Complete GO annotation...

Keywords - Cellular componenti

Endoplasmic reticulum, Membrane

Pathology & Biotechi

Organism-specific databases

PharmGKBiPA27930.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 919919Exostosin-like 3PRO_0000149657Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Glycosylationi277 – 2771N-linked (GlcNAc...)Sequence analysis
Glycosylationi290 – 2901N-linked (GlcNAc...)Sequence analysis
Modified residuei362 – 3621PhosphoserineBy similarity
Glycosylationi592 – 5921N-linked (GlcNAc...)Sequence analysis
Glycosylationi790 – 7901N-linked (GlcNAc...)Sequence analysis
Disulfide bondi831 ↔ 879By similarity

Keywords - PTMi

Disulfide bond, Glycoprotein, Phosphoprotein

Proteomic databases

EPDiO43909.
MaxQBiO43909.
PaxDbiO43909.
PeptideAtlasiO43909.
PRIDEiO43909.

PTM databases

iPTMnetiO43909.
PhosphoSiteiO43909.

Expressioni

Tissue specificityi

Ubiquitous. Expressed in keratinocytes.1 Publication

Gene expression databases

BgeeiO43909.
CleanExiHS_EXTL3.
ExpressionAtlasiO43909. baseline and differential.
GenevisibleiO43909. HS.

Organism-specific databases

HPAiCAB025387.
HPA040467.

Interactioni

Subunit structurei

Interacts with REG3A.1 Publication

Protein-protein interaction databases

BioGridi108438. 23 interactions.
IntActiO43909. 7 interactions.
STRINGi9606.ENSP00000220562.

Structurei

3D structure databases

ProteinModelPortaliO43909.
SMRiO43909. Positions 661-904.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Region

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Regioni723 – 7286Substrate bindingBy similarity
Regioni744 – 7463Substrate bindingBy similarity
Regioni829 – 8335Substrate bindingBy similarity

Sequence similaritiesi

Belongs to the glycosyltransferase 47 family.Curated

Keywords - Domaini

Signal-anchor, Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiKOG2264. Eukaryota.
ENOG410XNPM. LUCA.
GeneTreeiENSGT00550000074496.
HOGENOMiHOG000007975.
HOVERGENiHBG051526.
InParanoidiO43909.
KOiK02370.
OMAiRKSDTQN.
OrthoDBiEOG7PZRWK.
PhylomeDBiO43909.
TreeFamiTF314231.

Family and domain databases

Gene3Di3.90.550.10. 1 hit.
InterProiIPR027674. EXO3/EXOL3.
IPR004263. Exostosin.
IPR015338. EXT_C.
IPR029044. Nucleotide-diphossugar_trans.
[Graphical view]
PANTHERiPTHR11062:SF73. PTHR11062:SF73. 3 hits.
PfamiPF03016. Exostosin. 1 hit.
PF09258. Glyco_transf_64. 1 hit.
[Graphical view]
SUPFAMiSSF53448. SSF53448. 1 hit.

Sequencei

Sequence statusi: Complete.

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
Checksum:i200ADD4DAB4A39FD
GO

Sequence cautioni

The sequence BAA25445.2 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened.Curated

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti550 – 5501A → V.
Corresponds to variant rs35781576 [ dbSNP | Ensembl ].
VAR_061194
Natural varianti706 – 7061L → P.
Corresponds to variant rs2269452 [ dbSNP | Ensembl ].
VAR_049229

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_011544440.1.
UniGeneiHs.491354.
Hs.744019.

Genome annotation databases

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

Keywords - Coding sequence diversityi

Polymorphism

Cross-referencesi

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_011544440.1.
UniGeneiHs.491354.
Hs.744019.

3D structure databases

ProteinModelPortaliO43909.
SMRiO43909. Positions 661-904.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi108438. 23 interactions.
IntActiO43909. 7 interactions.
STRINGi9606.ENSP00000220562.

Protein family/group databases

CAZyiGT47. Glycosyltransferase Family 47.
GT64. Glycosyltransferase Family 64.

PTM databases

iPTMnetiO43909.
PhosphoSiteiO43909.

Proteomic databases

EPDiO43909.
MaxQBiO43909.
PaxDbiO43909.
PeptideAtlasiO43909.
PRIDEiO43909.

Protocols and materials databases

DNASUi2137.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

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

Organism-specific databases

CTDi2137.
GeneCardsiEXTL3.
HGNCiHGNC:3518. EXTL3.
HPAiCAB025387.
HPA040467.
MIMi605744. gene.
neXtProtiNX_O43909.
PharmGKBiPA27930.
HUGEiSearch...
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG2264. Eukaryota.
ENOG410XNPM. LUCA.
GeneTreeiENSGT00550000074496.
HOGENOMiHOG000007975.
HOVERGENiHBG051526.
InParanoidiO43909.
KOiK02370.
OMAiRKSDTQN.
OrthoDBiEOG7PZRWK.
PhylomeDBiO43909.
TreeFamiTF314231.

Enzyme and pathway databases

UniPathwayiUPA00756.
BioCyciMetaCyc:HS00333-MONOMER.
ReactomeiR-HSA-381038. XBP1(S) activates chaperone genes.

Miscellaneous databases

GeneWikiiEXTL3.
GenomeRNAii2137.
PROiO43909.
SOURCEiSearch...

Gene expression databases

BgeeiO43909.
CleanExiHS_EXTL3.
ExpressionAtlasiO43909. baseline and differential.
GenevisibleiO43909. HS.

Family and domain databases

Gene3Di3.90.550.10. 1 hit.
InterProiIPR027674. EXO3/EXOL3.
IPR004263. Exostosin.
IPR015338. EXT_C.
IPR029044. Nucleotide-diphossugar_trans.
[Graphical view]
PANTHERiPTHR11062:SF73. PTHR11062:SF73. 3 hits.
PfamiPF03016. Exostosin. 1 hit.
PF09258. Glyco_transf_64. 1 hit.
[Graphical view]
SUPFAMiSSF53448. SSF53448. 1 hit.
ProtoNetiSearch...

Publicationsi

« Hide 'large scale' publications
  1. "Identification of a third EXT-like gene (EXTL3) belonging to the EXT gene family."
    van Hul W., Wuyts W., Hendrickx J., Speleman F., Wauters J., de Boulle K., van Roy N., Bossuyt P., Willems P.J.
    Genomics 47:230-237(1998) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA].
  2. "Structure, chromosomal location, and expression profile of EXTR1 and EXTR2, new members of the multiple exostoses gene family."
    Saito T., Seki N., Yamauchi M., Tsuji S., Hayashi A., Kozuma S., Hori T.-A.
    Biochem. Biophys. Res. Commun. 243:61-66(1998) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA].
    Tissue: Fetus and Testis.
  3. "Prediction of the coding sequences of unidentified human genes. IX. The complete sequences of 100 new cDNA clones from brain which can code for large proteins in vitro."
    Nagase T., Ishikawa K., Miyajima N., Tanaka A., Kotani H., Nomura N., Ohara O.
    DNA Res. 5:31-39(1998) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
    Tissue: Brain.
  4. "Molecular cloning of a candidate gene for multiple exostoses."
    Deng H.-X., Xu L., Xia J.-H., Fan C., Pan Q., Liu C.-Y., Ruan Q.-G.
    Submitted (OCT-1997) to the EMBL/GenBank/DDBJ databases
    Cited for: NUCLEOTIDE SEQUENCE [MRNA].
  5. "The human EXTL1L/EXTR1/EXTL3 gene at 8p11-p12, the third breast cancer susceptibility gene locus, is not mutated in breast and various cancers."
    Sato T.
    Submitted (AUG-1998) to the EMBL/GenBank/DDBJ databases
    Cited for: NUCLEOTIDE SEQUENCE [MRNA].
  6. "Cloning of human full-length CDSs in BD Creator(TM) system donor vector."
    Kalnine N., Chen X., Rolfs A., Halleck A., Hines L., Eisenstein S., Koundinya M., Raphael J., Moreira D., Kelley T., LaBaer J., Lin Y., Phelan M., Farmer A.
    Submitted (MAY-2003) to the EMBL/GenBank/DDBJ databases
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
  7. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  8. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
    The MGC Project Team
    Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
    Tissue: Brain.
  9. "Human chromosome 8 BAC clone CIT987SK-2A8 complete sequence."
    Adams M.D.
    Submitted (APR-1997) to the EMBL/GenBank/DDBJ databases
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA] OF 470-919.
  10. "The putative tumor suppressors EXT1 and EXT2 form a stable complex that accumulates in the Golgi apparatus and catalyzes the synthesis of heparan sulfate."
    McCormick C., Duncan G., Goutsos K.T., Tufaro F.
    Proc. Natl. Acad. Sci. U.S.A. 97:668-673(2000) [PubMed] [Europe PMC] [Abstract]
    Cited for: SUBCELLULAR LOCATION.
  11. "The antimicrobial protein REG3A regulates keratinocyte proliferation and differentiation after skin injury."
    Lai Y., Li D., Li C., Muehleisen B., Radek K.A., Park H.J., Jiang Z., Li Z., Lei H., Quan Y., Zhang T., Wu Y., Kotol P., Morizane S., Hata T.R., Iwatsuki K., Tang C., Gallo R.L.
    Immunity 37:74-84(2012) [PubMed] [Europe PMC] [Abstract]
    Cited for: FUNCTION, INTERACTION WITH REG3A, TISSUE SPECIFICITY.

Entry informationi

Entry nameiEXTL3_HUMAN
AccessioniPrimary (citable) accession number: O43909
Secondary accession number(s): D3DST8, O00225, Q53XT3
Entry historyi
Integrated into UniProtKB/Swiss-Prot: July 15, 1999
Last sequence update: June 1, 1998
Last modified: July 6, 2016
This is version 154 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

Caution

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

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

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