O43909 (EXTL3_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

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 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

Protein attributes

Sequence length	919 AA.
Sequence status	Complete.
Protein existence	Evidence at transcript level

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.10.
Tissue specificity	Ubiquitous.
Sequence similarities	Belongs to the glycosyltransferase 47 family.
Caution	It is uncertain whether Met-1, Met-6 or Met-20 is the initiator.
Sequence caution	The sequence BAA25445.2 differs from that shown. Reason: Erroneous initiation.

Ontologies

Keywords
Cellular component	Endoplasmic reticulum Membrane
Coding sequence diversity	Polymorphism
Domain	Signal-anchor Transmembrane Transmembrane helix
Ligand	Manganese Metal-binding
Molecular function	Glycosyltransferase Transferase
PTM	Disulfide bond Glycoprotein
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Biological process	activation of signaling protein activity involved in unfolded protein response Traceable author statement. Source: Reactome
Cellular component	integral to membrane Inferred from electronic annotation. Source: UniProtKB-KW intrinsic to endoplasmic reticulum membrane Inferred from electronic annotation. Source: InterPro
Molecular function	glucuronyl-galactosyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity Inferred from electronic annotation. Source: EC metal ion binding Inferred from electronic annotation. Source: UniProtKB-KW
Complete GO annotation...

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	30	Cytoplasmic Potential
	Transmembrane	31 – 51	21	Helical; Signal-anchor for type II membrane protein; Potential
	Topological domain	52 – 919	868	Lumenal Potential
Sites
	Metal binding	746	1	Manganese; catalytic By similarity
Amino acid modifications
	Glycosylation	277	1	N-linked (GlcNAc...) Potential
	Glycosylation	290	1	N-linked (GlcNAc...) Potential
	Glycosylation	592	1	N-linked (GlcNAc...) Potential
	Glycosylation	790	1	N-linked (GlcNAc...) Potential
	Disulfide bond	831 ↔ 879		By similarity
Natural variations
	Natural variant	550	1	A → V. Corresponds to variant rs35781576 [ dbSNP | Ensembl ].		VAR_061194
	Natural variant	706	1	L → P. Corresponds to variant rs2269452 [ dbSNP | Ensembl ].		VAR_049229

Sequences

	Sequence		Length	Mass (Da)
	O43909 [UniParc]. Last modified June 1, 1998. Version 1. Checksum: 200ADD4DAB4A39FD	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

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 [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]	Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S., Turner R. , Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H., Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K., Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D., Hunkapiller M.W., Myers E.W., Venter J.C. Submitted (SEP-2005) to the EMBL/GenBank/DDBJ databases 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: 15489334] [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: 10639137] [Abstract] Cited for: SUBCELLULAR LOCATION.

Web resources

GGDB

GlycoGene database

Functional Glycomics Gateway - GTase

Exostosin-like 3

Cross-references

Sequence databases
EMBL GenBank DDBJ	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.
IPI	IPI00015135.
PIR	JC5934.
RefSeq	NP_001431.1. NM_001440.2.
UniGene	Hs.491354.
3D structure databases
ProteinModelPortal	O43909.
SMR	O43909. Positions 661-905.
ModBase	Search...
Protein-protein interaction databases
IntAct	O43909. 7 interactions.
STRING	O43909.
Protein family/group databases
CAZy	GT47. Glycosyltransferase Family 47. GT64. Glycosyltransferase Family 64.
PTM databases
PhosphoSite	O43909.
Proteomic databases
PRIDE	O43909.
Protocols and materials databases
DNASU	2137.
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000220562; ENSP00000220562; ENSG00000012232.
GeneID	2137.
KEGG	hsa:2137.
UCSC	uc003xgz.1. human.
Organism-specific databases
CTD	2137.
GeneCards	GC08P028457.
H-InvDB	HIX0007418.
HGNC	HGNC:3518. EXTL3.
HPA	HPA040467.
MIM	605744. gene.
neXtProt	NX_O43909.
PharmGKB	PA27930.
HUGE	Search...
GenAtlas	Search...
Phylogenomic databases
eggNOG	NOG243446.
GeneTree	ENSGT00550000074496.
HOGENOM	HOG000007975.
HOVERGEN	HBG051526.
InParanoid	O43909.
KO	K02370.
OMA	HDKQKCF.
OrthoDB	EOG415GCN.
PhylomeDB	O43909.
Enzyme and pathway databases
BioCyc	MetaCyc:HS00333-MONOMER.
Reactome	REACT_116125. Disease.
Gene expression databases
ArrayExpress	O43909.
Bgee	O43909.
CleanEx	HS_EXTL3.
Genevestigator	O43909.
GermOnline	ENSG00000012232. Homo sapiens.
Family and domain databases
InterPro	IPR004263. Exostosin. IPR015338. HexNAc_Trfase_a. [Graphical view]
Pfam	PF03016. Exostosin. 1 hit. PF09258. Glyco_transf_64. 1 hit. [Graphical view]
ProtoNet	Search...
Other
NextBio	8635.
SOURCE	Search...

Entry information

Entry name

EXTL3_HUMAN

Accession

Primary (citable) accession number: O43909
Secondary accession number(s): D3DST8, O00225, Q53XT3

Entry history

Integrated into UniProtKB/Swiss-Prot:	July 15, 1999
Last sequence update:	June 1, 1998
Last modified:	May 16, 2012
This is version 114 of the entry and version 1 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation program

Chordata Protein Annotation Program

Disclaimer

Any 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.