GGDB:

EXTL1はexostosin-like glycosyltransferase 1をコードする。この遺伝子はmultiple exostoses (EXT) familyに属し、ヘパラン硫酸およびヘパリン生合成に関与する。ヘパラン硫酸の主要構造は（GlcNAcα1,4GlcAβ1,4）からなる2糖繰り返し構造であるが、EXTL1は主に鎖長の伸張過程において非還元末端のGlcAにGlcNAcをα1,4結合で転移する。

Keyword: へパラン硫酸 , プロテオグリカン , ヘパリン

N-Acetylglucosaminyltransferase

GGDB Symbol

EXTL1 Alias

Designation

heparan sulfate GlcA/GlcNAc transferase like 1

Organism

Homo sapiens

GeneID

2134

HGNC

EXTL1 (3515)

mRNA

NM_004455

map

1p36.1

Protein

NP_004446

EC#

2.4.1.224

CAZy

GT47

GlyCosmos Glycogenes

EXTL1

OMIM

601738

Disease name

GDGDB

Human Protein Atlas

ENSG00000158008

Mus musculus

mRNA	NM_019578
Protein	NP_062524
MGI	47537

Rattus norvegicus

mRNA	XM_233547
Protein	XP_233547

Proc. Natl. Acad. Sci. U.S.A. 2001-06-01 ;98(13):7176-81.

Human tumor suppressor EXT gene family members EXTL1 and EXTL3 encode alpha 1,4- N-acetylglucosaminyltransferases that likely are involved in heparan sulfate/ heparin biosynthesis.

Kim BT. et al. PMID:11390981 Refer to: Table 1.

DONOR : UDP-GalNAc

Glc	Man	Gal	GlcNAc	GalNAc	Fuc	Xyl	Neu5Ac	Neu5Gc	GlcA	IdoA	GlcN

Substrate Transferred

	GAG_Nheparo	UDP-GalNAc	GAG_Nheparo_C1

Substrate Not Transferred

	JCGG-STR003511 GlyTouCan: G99041PQ GlyCosmos Glycans: G99041PQ

	JCGG-STR027487 GlyTouCan: G14371GV GlyCosmos Glycans: G14371GV

	JCGG-STR032618 GlyTouCan: G43702JT GlyCosmos Glycans: G43702JT

	EXT1_3

	JCGG-STR032618 GlyTouCan: G43702JT GlyCosmos Glycans: G43702JT

	JCGG-STR028206 GlyTouCan: G87877ES GlyCosmos Glycans: G87877ES

	EXT1_4

RNA Expression from Human Protein Atlas

This RNA expression data uses "HPA data" from the Human Protein Atlas. Tissue RNA Expression

data available from v22.proteinatlas.org

Genomics 1998-01-01 ;47(2):230-7.

Identification of a third EXT-like gene (EXTL3) belonging to the EXT gene family.

Van Hul W. et al. PMID:9479495

brainheartliverlungpancreasplacentaskeletal muscle

Provided by GOA

Function
glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity

Process
glycosaminoglycan biosynthetic process
heparan sulfate proteoglycan biosynthetic process
protein glycosylation
skeletal system development

Component
endoplasmic reticulum membrane
integral component of membrane

EXTL1

N-Acetylglucosaminyltransferase

Orthologous Gene

Mus musculus

Rattus norvegicus

Acceptor Substrates (Reference)

Human tumor suppressor EXT gene family members EXTL1 and EXTL3 encode alpha 1,4- N-acetylglucosaminyltransferases that likely are involved in heparan sulfate/ heparin biosynthesis.

DONOR : UDP-GalNAc

Substrate Transferred

Substrate Not Transferred

Acceptor Substrates (KEM-C)

Expression

Expression (Reference)

Identification of a third EXT-like gene (EXTL3) belonging to the EXT gene family.

Gene Ontology