UniProtKB - O43909 (EXTL3_HUMAN)

>sp|O43909|EXTL3_HUMAN Exostosin-like 3 OS=Homo sapiens OX=9606 GN=EXTL3 PE=1 SV=1
MTGYTMLRNGGAGNGGQTCMLRWSNRIRLTWLSFTLFVILVFFPLIAHYYLTTLDEADEA
GKRIFGPRVGNELCEVKHVLDLCRIRESVSEELLQLEAKRQELNSEIAKLNLKIEACKKS
IENAKQDLLQLKNVISQTEHSYKELMAQNQPKLSLPIRLLPEKDDAGLPPPKATRGCRLH
NCFDYSRCPLTSGFPVYVYDSDQFVFGSYLDPLVKQAFQATARANVYVTENADIACLYVI
LVGEMQEPVVLRPAELEKQLYSLPHWRTDGHNHVIINLSRKSDTQNLLYNVSTGRAMVAQ
STFYTVQYRPGFDLVVSPLVHAMSEPNFMEIPPQVPVKRKYLFTFQGEKIESLRSSLQEA
RSFEEEMEGDPPADYDDRIIATLKAVQDSKLDQVLVEFTCKNQPKPSLPTEWALCGERED
RLELLKLSTFALIITPGDPRLVISSGCATRLFEALEVGAVPVVLGEQVQLPYQDMLQWNE
AALVVPKPRVTEVHFLLRSLSDSDLLAMRRQGRFLWETYFSTADSIFNTVLAMIRTRIQI
PAAPIREEAAAEIPHRSGKAAGTDPNMADNGDLDLGPVETEPPYASPRYLRNFTLTVTDF
YRSWNCAPGPFHLFPHTPFDPVLPSEAKFLGSGTGFRPIGGGAGGSGKEFQAALGGNVPR
EQFTVVMLTYEREEVLMNSLERLNGLPYLNKVVVVWNSPKLPSEDLLWPDIGVPIMVVRT
EKNSLNNRFLPWNEIETEAILSIDDDAHLRHDEIMFGFRVWREARDRIVGFPGRYHAWDI
PHQSWLYNSNYSCELSMVLTGAAFFHKYYAYLYSYVMPQAIRDMVDEYINCEDIAMNFLV
SHITRKPPIKVTSRWTFRCPGCPQALSHDDSHFHERHKCINFFVKVYGYMPLLYTQFRVD
SVLFKTRLPHDKTKCFKFI

Entry version 183 (22 Apr 2020)
Sequence version 1 (01 Jun 1998)
Previous versions | rss

Help video Add a publication Feedback

Protein

Exostosin-like 3

Gene

EXTL3

Organism

Homo sapiens (Human)

Status

Reviewed-Annotation score: -Experimental evidence at protein levelⁱ

Functionⁱ

Glycosyltransferase which regulates the biosynthesis of heparan sulfate (HS). Important for both skeletal development and hematopoiesis, through the formation of HS proteoglycans (HSPGs) (PubMed:28132690, PubMed:28148688). Required for the function of REG3A in regulating keratinocyte proliferation and differentiation (PubMed:22727489).3 Publications

Caution

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

Catalytic activityⁱ

3-O-(β-D-GlcA-(1→3)-β-D-Gal-(1→3)-β-D-Gal-(1→4)-β-D-Xyl)-L-seryl-[protein]
Search proteins in UniProtKB for this molecule.
Search chemical reactions in Rhea for this molecule.
+
UDP-N-acetyl-α-D-glucosamine
Search proteins in UniProtKB for this molecule.
Search chemical reactions in Rhea for this molecule.
See the description of this molecule in ChEBI.
=
3-O-(α-D-GlcNAc-(1→4)-β-D-GlcA-(1→3)-β-D-Gal-(1→3)-β-D-Gal-(1→4)-β-D-Xyl)-L-seryl-[protein]
Search proteins in UniProtKB for this molecule.
Search chemical reactions in Rhea for this molecule.
+
H⁺
Search proteins in UniProtKB for this molecule.
Search chemical reactions in Rhea for this molecule.
See the description of this molecule in ChEBI.
+
UDP
Search proteins in UniProtKB for this molecule.
Search chemical reactions in Rhea for this molecule.
See the description of this molecule in ChEBI.
2 Publications
Manual assertion inferred by curator fromⁱ
- Ref.12
  "Mutations in EXTL3 cause neuro-immuno-skeletal dysplasia syndrome."
  Oud M.M., Tuijnenburg P., Hempel M., van Vlies N., Ren Z., Ferdinandusse S., Jansen M.H., Santer R., Johannsen J., Bacchelli C., Alders M., Li R., Davies R., Dupuis L., Cale C.M., Wanders R.J., Pals S.T., Ocaka L.
  Kuijpers T.W.
  Am. J. Hum. Genet. 100:281-296(2017) [PubMed] [Europe PMC] [Abstract]
  Cited for: FUNCTION, CATALYTIC ACTIVITY, PATHWAY, SUBCELLULAR LOCATION, INVOLVEMENT IN ISDNA, VARIANTS ISDNA LEU-461; CYS-513; SER-657 AND ASP-670, CHARACTERIZATION OF VARIANTS ISDNA LEU-461; CYS-513; SER-657 AND ASP-670, VARIANT LEU-442.
- Ref.13
  "EXTL3 mutations cause skeletal dysplasia, immune deficiency, and developmental delay."
  Volpi S., Yamazaki Y., Brauer P.M., van Rooijen E., Hayashida A., Slavotinek A., Sun Kuehn H., Di Rocco M., Rivolta C., Bortolomai I., Du L., Felgentreff K., Ott de Bruin L., Hayashida K., Freedman G., Marcovecchio G.E., Capuder K., Rath P.
  Notarangelo L.D.
  J. Exp. Med. 214:623-637(2017) [PubMed] [Europe PMC] [Abstract]
  Cited for: FUNCTION, CATALYTIC ACTIVITY, PATHWAY, VARIANTS ISDNA TRP-339 AND LEU-461, CHARACTERIZATION OF VARIANTS ISDNA TRP-339 AND LEU-461.
EC:
2.4.1.223
- Search proteins in UniProtKB for this EC number.
- See the description of this EC number in ENZYME.
2 Publications
Manual assertion inferred by curator fromⁱ
- Ref.12
  "Mutations in EXTL3 cause neuro-immuno-skeletal dysplasia syndrome."
  Oud M.M., Tuijnenburg P., Hempel M., van Vlies N., Ren Z., Ferdinandusse S., Jansen M.H., Santer R., Johannsen J., Bacchelli C., Alders M., Li R., Davies R., Dupuis L., Cale C.M., Wanders R.J., Pals S.T., Ocaka L.
  Kuijpers T.W.
  Am. J. Hum. Genet. 100:281-296(2017) [PubMed] [Europe PMC] [Abstract]
  Cited for: FUNCTION, CATALYTIC ACTIVITY, PATHWAY, SUBCELLULAR LOCATION, INVOLVEMENT IN ISDNA, VARIANTS ISDNA LEU-461; CYS-513; SER-657 AND ASP-670, CHARACTERIZATION OF VARIANTS ISDNA LEU-461; CYS-513; SER-657 AND ASP-670, VARIANT LEU-442.
- Ref.13
  "EXTL3 mutations cause skeletal dysplasia, immune deficiency, and developmental delay."
  Volpi S., Yamazaki Y., Brauer P.M., van Rooijen E., Hayashida A., Slavotinek A., Sun Kuehn H., Di Rocco M., Rivolta C., Bortolomai I., Du L., Felgentreff K., Ott de Bruin L., Hayashida K., Freedman G., Marcovecchio G.E., Capuder K., Rath P.
  Notarangelo L.D.
  J. Exp. Med. 214:623-637(2017) [PubMed] [Europe PMC] [Abstract]
  Cited for: FUNCTION, CATALYTIC ACTIVITY, PATHWAY, VARIANTS ISDNA TRP-339 AND LEU-461, CHARACTERIZATION OF VARIANTS ISDNA TRP-339 AND LEU-461.
Source:
Rhea
Search for this reaction in UniProtKB.
See the description of this reaction in Rhea.
. Show »« Hide
3-O-(β-D-GlcA-(1→3)-β-D-Gal-(1→3)-β-D-Gal-(1→4)-β-D-Xyl)-L-seryl-[protein]
3-O-(β-D-glucuronosyl-(1→3)-β-D-galactosyl-(1→3)-β-D-galactosyl-(1→4)-β-D-xylosyl)-L-serine residue
zoom
+
UDP-N-acetyl-α-D-glucosamine
zoom
=
3-O-(α-D-GlcNAc-(1→4)-β-D-GlcA-(1→3)-β-D-Gal-(1→3)-β-D-Gal-(1→4)-β-D-Xyl)-L-seryl-[protein]
3-O-(N-acetyl-α-D-glucosaminyl-(1→4)-β-D-glucuronosyl-(1→3)-β-D-galactosyl-(1→3)-β-D-galactosyl-(1→4)-β-D-xylosyl)-L-serine residue
zoom
+
H⁺
+
UDP

Cofactorⁱ

Mn²⁺By similarity

Pathwayⁱ: heparan sulfate biosynthesis

This protein is involved in the pathway heparan sulfate biosynthesis, which is part of Glycan metabolism.2 Publications
View all proteins of this organism that are known to be involved in the pathway heparan sulfate biosynthesis and in Glycan metabolism.

Sites

Feature key	Position(s)	DescriptionActions	Length
Binding siteⁱ	697	SubstrateBy similarity	1
Metal bindingⁱ	746	Manganese; catalyticBy similarity	1
Binding siteⁱ	774	SubstrateBy similarity	1
Active siteⁱ	833	By similarity	1

GO - Molecular functionⁱ

Complete GO annotation on QuickGO ...

GO - Biological processⁱ

Complete GO annotation on QuickGO ...

Keywordsⁱ

Molecular function	Glycosyltransferase, Transferase
Ligand	Manganese, Metal-binding

Enzyme and pathway databases

BioCycⁱ	MetaCyc:HS00333-MONOMER
Reactomeⁱ	R-HSA-381038 XBP1(S) activates chaperone genes
UniPathwayⁱ	UPA00756

Protein family/group databases

Carbohydrate-Active enZymes More...CAZyⁱ	GT47 Glycosyltransferase Family 47 GT64 Glycosyltransferase Family 64

CAZyⁱ

GT47 Glycosyltransferase Family 47
GT64 Glycosyltransferase Family 64

Names & Taxonomyⁱ

Protein namesⁱ	Recommended name: Exostosin-like 31 Publication (EC:2.4.1.2232 Publications) Alternative name(s): EXT-related protein 11 Publication Glucuronyl-galactosyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase Hereditary multiple exostoses gene isolog1 Publication Multiple exostosis-like protein 31 Publication Putative tumor suppressor protein EXTL31 Publication
Gene namesⁱ	Name:EXTL31 PublicationImported Synonyms:EXTL1L, EXTR1, KIAA0519
Organismⁱ	Homo sapiens (Human)
Taxonomic identifierⁱ	9606 [NCBI]
Taxonomic lineageⁱ	cellular organisms › Eukaryota › Opisthokonta › Metazoa › Eumetazoa › Bilateria › Deuterostomia › Chordata › Craniata › Vertebrata › Gnathostomata › Teleostomi › Euteleostomi › Sarcopterygii › Dipnotetrapodomorpha › Tetrapoda › Amniota › Mammalia › Theria › Eutheria › Boreoeutheria › Euarchontoglires › Primates › Haplorrhini › Simiiformes › Catarrhini › Hominoidea › Hominidae › Homininae › Homo
Proteomesⁱ	UP000005640 Componentⁱ: Chromosome 8

Organism-specific databases

Human Gene Nomenclature Database More...HGNCⁱ	HGNC:3518 EXTL3
MIMⁱ	605744 gene
neXtProtⁱ	NX_O43909

Topology

Feature key	Position(s)	DescriptionActions	Length
Topological domainⁱ	1 – 30	CytoplasmicSequence analysisAdd BLAST	30
Transmembraneⁱ	31 – 51	Helical; Signal-anchor for type II membrane proteinSequence analysisAdd BLAST	21
Topological domainⁱ	52 – 919	LumenalSequence analysisAdd BLAST	868

Keywords - Cellular componentⁱ

Endoplasmic reticulum, Golgi apparatus, Membrane

Pathology & Biotechⁱ

Involvement in diseaseⁱ

Immunoskeletal dysplasia with neurodevelopmental abnormalities (ISDNA)2 Publications

The disease is caused by mutations affecting the gene represented in this entry.

Disease descriptionAn autosomal recessive disorder characterized by variable skeletal abnormalities and neurodevelopmental defects. Neurologic manifestations include intellectual disability and motor delay. Some patients manifest hypotonia and seizures. Skeletal features include disproportionate short stature, cervical malformations, epiphyseal and metaphyseal dysplasia, and rarely premature craniosynostosis with progressive microcephaly. Severe combined immunodeficiency with a complete absence of T cells is observed in some patients.

Related information in OMIM

Feature key	Position(s)	DescriptionActions	Length
Natural variantⁱVAR_079089	339	R → W in ISDNA; changed glycosaminoglycan synthesis. 1 PublicationCorresponds to variant dbSNP:rs747676107EnsemblClinVar.	1
Natural variantⁱVAR_079091	461	P → L in ISDNA; changed glycosaminoglycan synthesis. 2 PublicationsCorresponds to variant dbSNP:rs554294508EnsemblClinVar.	1
Natural variantⁱVAR_079092	513	R → C in ISDNA; changed glycosaminoglycan synthesis; no localization to Golgi apparatus in patient fibroblasts. 1 PublicationCorresponds to variant dbSNP:rs1332006145Ensembl.	1
Natural variantⁱVAR_079093	657	N → S in ISDNA; changed glycosaminoglycan synthesis. 1 PublicationCorresponds to variant dbSNP:rs770842408EnsemblClinVar.	1
Natural variantⁱVAR_079094	670	Y → D in ISDNA; changed glycosaminoglycan synthesis. 1 Publication	1

Keywords - Diseaseⁱ

Disease mutation, Dwarfism, Mental retardation

Organism-specific databases

DisGeNET More...DisGeNETⁱ	2137
MalaCards human disease database More...MalaCardsⁱ	EXTL3
MIMⁱ	617425 phenotype
Open Targets More...OpenTargetsⁱ	ENSG00000012232
Orphanetⁱ	508533 Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome
PharmGKBⁱ	PA27930

Miscellaneous databases

Pharosⁱ	O43909 Tbio

Pharosⁱ

O43909 Tbio

Polymorphism and mutation databases

BioMutaⁱ	EXTL3

BioMutaⁱ

EXTL3

PTM / Processingⁱ

Molecule processing

Feature key	Position(s)	DescriptionActions	Graphical view	Length
ChainⁱPRO_0000149657	1 – 919	Exostosin-like 3Add BLAST		919

Amino acid modifications

Feature key	Position(s)	DescriptionActions	Length
Glycosylationⁱ	277	N-linked (GlcNAc...) asparagineSequence analysis	1
Glycosylationⁱ	290	N-linked (GlcNAc...) asparagineSequence analysis	1
Modified residueⁱ	362	PhosphoserineBy similarity	1
Glycosylationⁱ	592	N-linked (GlcNAc...) asparagineSequence analysis	1
Glycosylationⁱ	790	N-linked (GlcNAc...) asparagineSequence analysis	1
Disulfide bondⁱ	831 ↔ 879	By similarity

Keywords - PTMⁱ

Disulfide bond, Glycoprotein, Phosphoprotein

Proteomic databases

EPDⁱ	O43909
jPOSTⁱ	O43909
MassIVEⁱ	O43909
MaxQB - The MaxQuant DataBase More...MaxQBⁱ	O43909
PaxDbⁱ	O43909
PeptideAtlas More...PeptideAtlasⁱ	O43909
PRIDEⁱ	O43909
ProteomicsDBⁱ	49226

PTM databases

iPTMnetⁱ	O43909
PhosphoSitePlusⁱ	O43909

Expressionⁱ

Tissue specificityⁱ

Gene expression databases

Bgeeⁱ	ENSG00000012232 Expressed in heart left ventricle and 169 other tissues
ExpressionAtlasⁱ	O43909 baseline and differential
Genevisibleⁱ	O43909 HS

Organism-specific databases

Human Protein Atlas More...HPAⁱ	ENSG00000012232 Low tissue specificity

HPAⁱ

ENSG00000012232 Low tissue specificity

Interactionⁱ

Subunit structureⁱ

Binary interactionsⁱ

O43909

With	#Exp.	IntAct
ATXN1 [P54253]	3	EBI-1754679,EBI-930964

Protein-protein interaction databases

BioGridⁱ	108438, 48 interactors
IntActⁱ	O43909, 24 interactors
STRINGⁱ	9606.ENSP00000220562

Miscellaneous databases

RNActⁱ	O43909 protein

RNActⁱ

O43909 protein

Structureⁱ

3D structure databases

SMRⁱ	O43909
ModBaseⁱ	Search...

Family & Domainsⁱ

Region

Feature key	Position(s)	DescriptionActions	Length
Regionⁱ	723 – 728	Substrate bindingBy similarity	6
Regionⁱ	744 – 746	Substrate bindingBy similarity	3
Regionⁱ	829 – 833	Substrate bindingBy similarity	5

Sequence similaritiesⁱ

Belongs to the glycosyltransferase 47 family.Curated

Keywords - Domainⁱ

Signal-anchor, Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGⁱ	KOG2264 Eukaryota ENOG410XNPM LUCA
Ensembl GeneTree More...GeneTreeⁱ	ENSGT00940000156692
HOGENOMⁱ	CLU_013906_3_0_1
InParanoidⁱ	O43909
KEGG Orthology (KO) More...KOⁱ	K02370
OMAⁱ	AKEAWND
Database of Orthologous Groups More...OrthoDBⁱ	789556at2759
PhylomeDBⁱ	O43909
TreeFamⁱ	TF314231

Family and domain databases

Gene3Dⁱ	3.90.550.10, 1 hit
InterProⁱ	View protein in InterPro IPR004263 Exostosin IPR040911 Exostosin_GT47 IPR015338 GT64 IPR029044 Nucleotide-diphossugar_trans
PANTHERⁱ	PTHR11062 PTHR11062, 2 hits
Pfam protein domain database More...Pfamⁱ	View protein in Pfam PF03016 Exostosin, 1 hit PF09258 Glyco_transf_64, 1 hit
SUPFAMⁱ	SSF53448 SSF53448, 1 hit

Sequence (1+)ⁱ

Sequence statusⁱ: Complete.

This entry has 1 described isoform and 5 potential isoforms that are computationally mapped.Show all Align All

O43909-1 [UniParc]FASTA Add 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

Computationally mapped potential isoform sequencesⁱ

There are 5 potential isoforms mapped to this entry.BLAST Align Show all Add to basket

Entry	Entry name	Protein names	Gene names	Length	Annotation

E7ET85	E7ET85_HUMAN	Exostosin-like 3 Exostosin-like 3	EXTL3	535	Annotation score:
E5RIV6	E5RIV6_HUMAN	Exostosin-like 3 Exostosin-like 3	EXTL3	118	Annotation score:
E5RK02	E5RK02_HUMAN	Exostosin-like 3 Exostosin-like 3	EXTL3	137	Annotation score:
H0YBJ7	H0YBJ7_HUMAN	Exostosin-like 3 Exostosin-like 3	EXTL3	201	Annotation score:
H0YB01	H0YB01_HUMAN	Exostosin-like 3 Exostosin-like 3	EXTL3	75	Annotation score:

Sequence cautionⁱ

The sequence BAA25445 differs from that shown. Reason: Erroneous initiation. Extended N-terminus.Curated

Natural variant

Feature key	Position(s)	DescriptionActions	Length
Natural variantⁱVAR_079089	339	R → W in ISDNA; changed glycosaminoglycan synthesis. 1 PublicationCorresponds to variant dbSNP:rs747676107EnsemblClinVar.	1
Natural variantⁱVAR_079090	442	V → L1 PublicationCorresponds to variant dbSNP:rs116659770EnsemblClinVar.	1
Natural variantⁱVAR_079091	461	P → L in ISDNA; changed glycosaminoglycan synthesis. 2 PublicationsCorresponds to variant dbSNP:rs554294508EnsemblClinVar.	1
Natural variantⁱVAR_079092	513	R → C in ISDNA; changed glycosaminoglycan synthesis; no localization to Golgi apparatus in patient fibroblasts. 1 PublicationCorresponds to variant dbSNP:rs1332006145Ensembl.	1
Natural variantⁱVAR_061194	550	A → V. Corresponds to variant dbSNP:rs35781576Ensembl.	1
Natural variantⁱVAR_080762	646	S → C Found in a small consanguineous family with intellectual disability; unknown pathological significance. 1 Publication	1
Natural variantⁱVAR_079093	657	N → S in ISDNA; changed glycosaminoglycan synthesis. 1 PublicationCorresponds to variant dbSNP:rs770842408EnsemblClinVar.	1
Natural variantⁱVAR_079094	670	Y → D in ISDNA; changed glycosaminoglycan synthesis. 1 Publication	1
Natural variantⁱVAR_049229	706	L → P. Corresponds to variant dbSNP:rs2269452Ensembl.	1

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.
The Consensus CDS (CCDS) project More...CCDSⁱ	CCDS6070.1
PIRⁱ	JC5934
NCBI Reference Sequences More...RefSeqⁱ	NP_001431.1, NM_001440.3 XP_011542742.1, XM_011544440.2

Genome annotation databases

Ensemblⁱ	ENST00000220562; ENSP00000220562; ENSG00000012232
GeneIDⁱ	2137
KEGGⁱ	hsa:2137
UCSC genome browser More...UCSCⁱ	uc003xgz.3 human

Keywords - Coding sequence diversityⁱ

Polymorphism

Similar proteinsⁱ

100% Identity
90% Identity
50% Identity

Protein	Similar proteins		Species	Score	Length	Source
O43909	Epididymis secretory sperm binding protein		HUMAN		919	UniRef100_O43909

Protein	Similar proteins		Species	Score	Length	Source
O43909	Epididymis secretory sperm binding protein		HUMAN		919	UniRef90_O43909
Exostosin-like 3 (Fragment)		yellow-throated sandgrouse		921
Exostosin-like 3 (Fragment)		golden-collared manakin		921
Exostosin-like 3 (Fragment)		common cuckoo		921
Exostosin like glycosyltransferase 3		AILME		921
+189

Protein	Similar proteins		Species	Score	Length	Source
O43909	Exostosin-like 3		MOUSE		918	UniRef50_O43909
Epididymis secretory sperm binding protein		HUMAN		919
Exostosin-like 3 (Fragment)		NIPNI		921
Exostosin-like 3 (Fragment)		EGRGA		921
Exostosin like glycosyltransferase 3		MELGA		921
+476

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.
CCDSⁱ	CCDS6070.1
PIRⁱ	JC5934
RefSeqⁱ	NP_001431.1, NM_001440.3 XP_011542742.1, XM_011544440.2

3D structure databases

SMRⁱ	O43909
ModBaseⁱ	Search...

Protein-protein interaction databases

BioGridⁱ	108438, 48 interactors
IntActⁱ	O43909, 24 interactors
STRINGⁱ	9606.ENSP00000220562

Protein family/group databases

CAZyⁱ	GT47 Glycosyltransferase Family 47 GT64 Glycosyltransferase Family 64

CAZyⁱ

GT47 Glycosyltransferase Family 47
GT64 Glycosyltransferase Family 64

PTM databases

iPTMnetⁱ	O43909
PhosphoSitePlusⁱ	O43909

Polymorphism and mutation databases

BioMutaⁱ	EXTL3

BioMutaⁱ

EXTL3

Proteomic databases

EPDⁱ	O43909
jPOSTⁱ	O43909
MassIVEⁱ	O43909
MaxQBⁱ	O43909
PaxDbⁱ	O43909
PeptideAtlasⁱ	O43909
PRIDEⁱ	O43909
ProteomicsDBⁱ	49226

Protocols and materials databases

Antibodypediaⁱ	23127 262 antibodies
The DNASU plasmid repository More...DNASUⁱ	2137

Genome annotation databases

Ensemblⁱ	ENST00000220562; ENSP00000220562; ENSG00000012232
GeneIDⁱ	2137
KEGGⁱ	hsa:2137
UCSCⁱ	uc003xgz.3 human

Organism-specific databases

CTDⁱ	2137
DisGeNETⁱ	2137
GeneCardsⁱ	EXTL3
HGNCⁱ	HGNC:3518 EXTL3
HPAⁱ	ENSG00000012232 Low tissue specificity
MalaCardsⁱ	EXTL3
MIMⁱ	605744 gene 617425 phenotype
neXtProtⁱ	NX_O43909
OpenTargetsⁱ	ENSG00000012232
Orphanetⁱ	508533 Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome
PharmGKBⁱ	PA27930
HUGEⁱ	Search...
GenAtlas: human gene database More...GenAtlasⁱ	Search...

Phylogenomic databases

eggNOGⁱ	KOG2264 Eukaryota ENOG410XNPM LUCA
GeneTreeⁱ	ENSGT00940000156692
HOGENOMⁱ	CLU_013906_3_0_1
InParanoidⁱ	O43909
KOⁱ	K02370
OMAⁱ	AKEAWND
OrthoDBⁱ	789556at2759
PhylomeDBⁱ	O43909
TreeFamⁱ	TF314231

Enzyme and pathway databases

UniPathwayⁱ	UPA00756
BioCycⁱ	MetaCyc:HS00333-MONOMER
Reactomeⁱ	R-HSA-381038 XBP1(S) activates chaperone genes

Miscellaneous databases

ChiTaRSⁱ	EXTL3 human
GeneWikiⁱ	EXTL3
GenomeRNAiⁱ	2137
Pharosⁱ	O43909 Tbio
Protein Ontology More...PROⁱ	PR:O43909
RNActⁱ	O43909 protein
SOURCEⁱ	Search...

Gene expression databases

Bgeeⁱ	ENSG00000012232 Expressed in heart left ventricle and 169 other tissues
ExpressionAtlasⁱ	O43909 baseline and differential
Genevisibleⁱ	O43909 HS

Family and domain databases

Gene3Dⁱ	3.90.550.10, 1 hit
InterProⁱ	View protein in InterPro IPR004263 Exostosin IPR040911 Exostosin_GT47 IPR015338 GT64 IPR029044 Nucleotide-diphossugar_trans
PANTHERⁱ	PTHR11062 PTHR11062, 2 hits
Pfamⁱ	View protein in Pfam PF03016 Exostosin, 1 hit PF09258 Glyco_transf_64, 1 hit
SUPFAMⁱ	SSF53448 SSF53448, 1 hit
ProtoNetⁱ	Search...
MobiDBⁱ	Search...

Entry informationⁱ

Entry nameⁱ	EXTL3_HUMAN
Accessionⁱ	O43909Primary (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:	April 22, 2020
	This is version 183 of the entry and version 1 of the sequence. See complete history.
Entry statusⁱ	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.

Miscellaneousⁱ

Keywords - Technical termⁱ

Reference proteome

Documents

SIMILARITY comments
Index of protein domains and families
PATHWAY comments
Index of metabolic and biosynthesis pathways
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
Human chromosome 8
Human chromosome 8: entries, gene names and cross-references to MIM

UniProtKB

UniParc

Help

UniRef

Proteomes

Annotation systems

Supporting data

UniProtKB - O43909 (EXTL3_HUMAN)

Your basket is currently empty. i <p>When browsing through different UniProt proteins, you can use the 'basket' to save them, so that you can back to find or analyse them later.<p><a href='/help/basket' target='_top'>More...</a></p>

Exostosin-like 3

EXTL3

Select a section on the left to see content.

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>Functioni

Caution

<p>This subsection of the <a href="http://www.uniprot.org/help/function%5Fsection">Function</a> section describes the catalytic activity of an enzyme, i.e. a chemical reaction that the enzyme catalyzes.<p><a href='/help/catalytic_activity' target='_top'>More...</a></p>Catalytic activityi

<p>This subsection of the <a href="http://www.uniprot.org/help/function%5Fsection">'Function'</a> section describes the metabolic pathway(s) associated with a protein.<p><a href='/help/pathway' target='_top'>More...</a></p>Pathwayi: heparan sulfate biosynthesis

Sites

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Molecular functioni

GO - Biological processi

Enzyme and pathway databases

Protein family/group databases

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

Organism-specific databases

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>Subcellular locationi

Endoplasmic reticulum

Golgi apparatus

Endoplasmic reticulum

Golgi apparatus

Other locations

Topology

Keywords - Cellular componenti

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

Keywords - Diseasei

Organism-specific databases

Miscellaneous databases

Polymorphism and mutation databases

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Amino acid modifications

Keywords - PTMi

Proteomic databases

PTM databases

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

Gene expression databases

Organism-specific databases

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

O43909

Protein-protein interaction databases

Miscellaneous databases

<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei

3D structure databases

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

Region

<p>This subsection of the 'Family and domains' section provides information about the sequence similarity with other proteins.<p><a href='/help/sequence_similarities' target='_top'>More...</a></p>Sequence similaritiesi

Keywords - Domaini

Phylogenomic databases

Family and domain databases

<p>This subsection of the 'Sequence' section reports difference(s) between the protein sequence shown in the UniProtKB entry and other available protein sequences derived from the same gene.<p><a href='/help/sequence_caution' target='_top'>More...</a></p>Sequence cautioni

Natural variant

Sequence databases

Genome annotation databases

Keywords - Coding sequence diversityi

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>Cross-referencesi

<p>This subsection of the <a href="http://www.uniprot.org/manual/cross%5Freferences%5Fsection">Cross-references</a> section provides links to various web resources that are relevant for a specific protein.<p><a href='/help/web_resource' target='_top'>More...</a></p>Web resourcesi

Sequence databases

3D structure databases

Protein-protein interaction databases

Protein family/group databases

PTM databases

Polymorphism and mutation databases

Proteomic databases

Protocols and materials databases

Genome annotation databases

Organism-specific databases

Phylogenomic databases

Enzyme and pathway databases

Miscellaneous databases

Gene expression databases

Family and domain databases

<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

Your basket is currently empty. ⁱ

Functionⁱ

Catalytic activityⁱ

Pathwayⁱ: heparan sulfate biosynthesis

GO - Molecular functionⁱ

GO - Biological processⁱ

Names & Taxonomyⁱ

Subcellular locationⁱ

Keywords - Cellular componentⁱ

Pathology & Biotechⁱ

Keywords - Diseaseⁱ

PTM / Processingⁱ

Keywords - PTMⁱ

Expressionⁱ

Interactionⁱ

Structureⁱ

Family & Domainsⁱ

Sequence similaritiesⁱ

Keywords - Domainⁱ

Sequence cautionⁱ

Keywords - Coding sequence diversityⁱ

Cross-referencesⁱ

Web resourcesⁱ

Entry informationⁱ

Miscellaneousⁱ

Keywords - Technical termⁱ