Exostosin-like 3 - Homo sapiens (Human)

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Reviewed, UniProtKB/Swiss-Prot O43909 (EXTL3_HUMAN)

Last modified December 16, 2008. Version 79. History...

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Names and origin · Protein attributes · General annotation (Comments) · Ontologies · Binary interactions · Sequence annotation (Features) · Sequences · References · Web resources · Cross-references · Entry information · Relevant documents

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Names and origin

Protein names

Recommended name:
    Exostosin-like 3
    EC=2.4.1.223
Alternative name(s):
    Glucuronyl-galactosyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase
    Putative tumor suppressor protein EXTL3
    Multiple exostosis-like protein 3
    Hereditary multiple exostoses gene isolog
    EXT-related protein 1

Gene names

Name:	EXTL3
Synonyms:	EXTL1L, EXTR1, KIAA0519

Organism

Homo sapiens (Human)

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo

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Protein attributes

Sequence length	919 AA.
Sequence status	Complete.
Sequence processing	The displayed sequence is not processed.
Protein existence	Evidence at protein level.

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General annotation (Comments)

Function	Probable glycosyltransferase By similarity.
Catalytic activity	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.
Pathway	Glycan metabolism; heparan sulfate biosynthesis.
Subcellular location	Endoplasmic reticulum membrane; Single-pass type II membrane protein. Ref.8
Tissue specificity	Ubiquitous.
Involvement in disease	Candidate gene for the breast cancer locus on chromosome 8p12-p22.
Sequence similarities	Belongs to the glycosyltransferase 47 family.
Caution	It is uncertain whether Met-1, Met-6 or Met-20 is the initiator.

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Ontologies

Keywords
Cellular component	Endoplasmic reticulum Membrane
Coding sequence diversity	Polymorphism
Domain	Signal-anchor Transmembrane
Ligand	Manganese Metal-binding
Molecular function	Glycosyltransferase Transferase
PTM	Glycoprotein
Gene Ontology (GO)
Cellular component	endoplasmic reticulum membrane Inferred from electronic annotation. Source: UniProtKB-SubCell integral to membrane Inferred from electronic annotation. Source: UniProtKB-KW
Molecular function	glucuronyl-galactosyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity Inferred from electronic annotation. Source: EC manganese ion binding Inferred from electronic annotation. Source: UniProtKB-KW protein binding Inferred from physical interaction. Source: IntAct
Complete GO annotation...

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Binary interactions

With	Entry	#Exp.	IntAct
CRK	P46108	1	EBI-1754679,EBI-886
FYN	P06241	1	EBI-1754679,EBI-515315
GRB2	P62993	1	EBI-1754679,EBI-401755
PIK3R1	P27986	1	EBI-1754679,EBI-79464
PLCG1	P19174	1	EBI-1754679,EBI-79387
SRC	P12931	1	EBI-1754679,EBI-621482

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Sequence annotation (Features)

Feature key

Position(s)

Length

Description

Graphical view

Feature identifier

Molecule processing

Chain

1 – 919

919

Exostosin-like 3

PRO_0000149657

Regions

Topological domain

1 – 30

Cytoplasmic Potential

Transmembrane

31 – 51

Signal-anchor for type II membrane protein Potential

Topological domain

52 – 919

868

Lumenal Potential

Sites

Metal binding

746

Manganese; catalytic By similarity

Amino acid modifications

Glycosylation

277

N-linked (GlcNAc...) Potential

Glycosylation

290

N-linked (GlcNAc...) Potential

Glycosylation

592

N-linked (GlcNAc...) Potential

Glycosylation

790

N-linked (GlcNAc...) Potential

Disulfide bond

831 ↔ 879

By similarity

Natural variations

Natural variant

706

L → P: dbSNP rs2269452.

VAR_049229

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Sequences

Sequence

Length

Mass (Da)

Tools

O43909-1 [UniParc].

Last modified June 1, 1998. Version 1.
Checksum: 200ADD4DAB4A39FD
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FASTA

919

104,749

        10         20         30         40         50         60 
MTGYTMLRNG GAGNGGQTCM LRWSNRIRLT WLSFTLFVIL VFFPLIAHYY LTTLDEADEA 

        70         80         90        100        110        120 
GKRIFGPRVG NELCEVKHVL DLCRIRESVS EELLQLEAKR QELNSEIAKL NLKIEACKKS 

       130        140        150        160        170        180 
IENAKQDLLQ LKNVISQTEH SYKELMAQNQ PKLSLPIRLL PEKDDAGLPP PKATRGCRLH 

       190        200        210        220        230        240 
NCFDYSRCPL TSGFPVYVYD SDQFVFGSYL DPLVKQAFQA TARANVYVTE NADIACLYVI 

       250        260        270        280        290        300 
LVGEMQEPVV LRPAELEKQL YSLPHWRTDG HNHVIINLSR KSDTQNLLYN VSTGRAMVAQ 

       310        320        330        340        350        360 
STFYTVQYRP GFDLVVSPLV HAMSEPNFME IPPQVPVKRK YLFTFQGEKI ESLRSSLQEA 

       370        380        390        400        410        420 
RSFEEEMEGD PPADYDDRII ATLKAVQDSK LDQVLVEFTC KNQPKPSLPT EWALCGERED 

       430        440        450        460        470        480 
RLELLKLSTF ALIITPGDPR LVISSGCATR LFEALEVGAV PVVLGEQVQL PYQDMLQWNE 

       490        500        510        520        530        540 
AALVVPKPRV TEVHFLLRSL SDSDLLAMRR QGRFLWETYF STADSIFNTV LAMIRTRIQI 

       550        560        570        580        590        600 
PAAPIREEAA AEIPHRSGKA AGTDPNMADN GDLDLGPVET EPPYASPRYL RNFTLTVTDF 

       610        620        630        640        650        660 
YRSWNCAPGP FHLFPHTPFD PVLPSEAKFL GSGTGFRPIG GGAGGSGKEF QAALGGNVPR 

       670        680        690        700        710        720 
EQFTVVMLTY EREEVLMNSL ERLNGLPYLN KVVVVWNSPK LPSEDLLWPD IGVPIMVVRT 

       730        740        750        760        770        780 
EKNSLNNRFL PWNEIETEAI LSIDDDAHLR HDEIMFGFRV WREARDRIVG FPGRYHAWDI 

       790        800        810        820        830        840 
PHQSWLYNSN YSCELSMVLT GAAFFHKYYA YLYSYVMPQA IRDMVDEYIN CEDIAMNFLV 

       850        860        870        880        890        900 
SHITRKPPIK VTSRWTFRCP GCPQALSHDD SHFHERHKCI NFFVKVYGYM PLLYTQFRVD 

       910 
SVLFKTRLPH DKTKCFKFI

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References

	« Hide 'large scale' referencesShow 'large scale' references »
[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: 9479495] [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: 9473480] [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: 9628581] [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.
[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.
[6]	"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: 15489334] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA]. Tissue: Brain.
[7]	"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.
[8]	"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: 10639137] [Abstract] Cited for: SUBCELLULAR LOCATION.

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Web resources

GGDB

GlycoGene database

Functional Glycomics Gateway - GTase

Exostosin-like 3

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Cross-references

Sequence databases
	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. BC006363 mRNA. Translation: AAH06363.1. U96629 Genomic DNA. Translation: AAB67602.1. Sequence problems.
PIR	JC5934.
RefSeq	NP_001431.1.
UniGene	Hs.491354
3D structure databases
HSSP	HSSP built from PDB template 1OMZ based on UniProtKB Q9ES89.
ModBase	Search...
Protein-protein interaction databases
IntAct	O43909. 6 interactions.
PTM databases
PhosphoSite	O43909.
Proteomic databases
PRIDE	O43909.
Genome annotation databases
Ensembl	ENSG00000012232. Homo sapiens. [Contig view]
GeneID	2137.
KEGG	hsa:2137.
Organism-specific databases
GeneCards	GC08P028615.
HGNC	HGNC:3518. EXTL3.
MIM	605744. gene.
PharmGKB	PA27930.
HUGE	Search...
GenAtlas	Search...
Phylogenomic databases
HOGENOM	O43909.
HOVERGEN	O43909.
Gene expression databases
ArrayExpress	O43909.
CleanEx	HS_EXTL3.
GermOnline	ENSG00000012232. Homo sapiens.
Family and domain databases
InterPro	IPR004263. Exostosin. IPR015338. HexNAc_Trfase_a. [Graphical view]
Pfam	PF03016. Exostosin. 1 hit. PF09258. EXTL2. 1 hit. [Graphical view]
ProtoNet	Search...
Other Resources
NextBio	8635.
SOURCE	Search...

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Entry information

Entry name

EXTL3_HUMAN

Accession

Primary (citable) accession number: O43909
Secondary accession number(s): O00225

Entry history

Integrated into UniProtKB/Swiss-Prot:	July 15, 1999
Last sequence update:	June 1, 1998
Last modified:	December 16, 2008
This is version 79 of the entry and version 1 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation project

HPI (Human Proteome Initiative)

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Relevant documents

Human chromosome 8

Human chromosome 8: entries, gene names and cross-references to MIM

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

PATHWAY comments

Index of metabolic and biosynthesis pathways

SIMILARITY comments

Index of protein domains and families

Names and origin

Protein attributes

General annotation (Comments)

Ontologies

Keywords

Gene Ontology (GO)

Binary interactions

With

Entry

#Exp.

IntAct

Notes

Sequence annotation (Features)

Molecule processing

Regions

Sites

Amino acid modifications

Natural variations

Sequences

References

Web resources

Cross-references

Sequence databases

3D structure databases

Protein-protein interaction databases

PTM databases

Proteomic databases

Genome annotation databases

Organism-specific databases

Phylogenomic databases

Gene expression databases

Family and domain databases

Other Resources

Entry information

Relevant documents