Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	2134
Gene name	Exostosin like glycosyltransferase 1
Gene symbol	EXTL1
Synonyms (NCBI Gene)	EXTL
Chromosome	1
Chromosome location	1p36.11
Summary	This gene is a member of the multiple exostoses (EXT) family of glycosyltransferases, which function in the chain polymerization of heparan sulfate and heparin. The encoded protein harbors alpha 1,4- N-acetylglucosaminyltransferase activity, and is involv

Show/Hide all (46)

miRTarBase ID	miRNA	Experiments
MIRT973532	hsa-miR-10a	CLIP-seq
MIRT973533	hsa-miR-10b	CLIP-seq
MIRT973534	hsa-miR-1228	CLIP-seq
MIRT973535	hsa-miR-1229	CLIP-seq
MIRT973536	hsa-miR-136	CLIP-seq
MIRT973537	hsa-miR-3135	CLIP-seq
MIRT973538	hsa-miR-3189-3p	CLIP-seq
MIRT973539	hsa-miR-339-5p	CLIP-seq
MIRT973540	hsa-miR-3620	CLIP-seq
MIRT973541	hsa-miR-4258	CLIP-seq
MIRT973542	hsa-miR-4268	CLIP-seq
MIRT973543	hsa-miR-4448	CLIP-seq
MIRT973544	hsa-miR-4449	CLIP-seq
MIRT973545	hsa-miR-4632	CLIP-seq
MIRT973546	hsa-miR-4676-5p	CLIP-seq
MIRT973547	hsa-miR-575	CLIP-seq
MIRT973548	hsa-miR-767-3p	CLIP-seq
MIRT1988422	hsa-miR-2116	CLIP-seq
MIRT1988423	hsa-miR-2467-5p	CLIP-seq
MIRT973539	hsa-miR-339-5p	CLIP-seq
MIRT1988424	hsa-miR-3942-3p	CLIP-seq
MIRT973541	hsa-miR-4258	CLIP-seq
MIRT973544	hsa-miR-4449	CLIP-seq
MIRT973545	hsa-miR-4632	CLIP-seq
MIRT1988425	hsa-miR-4677-5p	CLIP-seq
MIRT973532	hsa-miR-10a	CLIP-seq
MIRT973533	hsa-miR-10b	CLIP-seq
MIRT973534	hsa-miR-1228	CLIP-seq
MIRT973537	hsa-miR-3135	CLIP-seq
MIRT973539	hsa-miR-339-5p	CLIP-seq
MIRT973540	hsa-miR-3620	CLIP-seq
MIRT973541	hsa-miR-4258	CLIP-seq
MIRT973544	hsa-miR-4449	CLIP-seq
MIRT973545	hsa-miR-4632	CLIP-seq
MIRT973546	hsa-miR-4676-5p	CLIP-seq
MIRT973547	hsa-miR-575	CLIP-seq
MIRT2680404	hsa-miR-2114	CLIP-seq
MIRT2680405	hsa-miR-3150b-3p	CLIP-seq
MIRT2680406	hsa-miR-4254	CLIP-seq
MIRT2680407	hsa-miR-4292	CLIP-seq
MIRT2680408	hsa-miR-4308	CLIP-seq
MIRT2680409	hsa-miR-4645-5p	CLIP-seq
MIRT2680410	hsa-miR-4673	CLIP-seq
MIRT2680411	hsa-miR-4742-5p	CLIP-seq
MIRT2680412	hsa-miR-4784	CLIP-seq
MIRT2680413	hsa-miR-765	CLIP-seq

Show/Hide all (17)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001501	Process	Skeletal system development	TAS	9037597
GO:0005515	Function	Protein binding	IPI	32296183
GO:0005783	Component	Endoplasmic reticulum	IEA
GO:0005789	Component	Endoplasmic reticulum membrane	IEA
GO:0005789	Component	Endoplasmic reticulum membrane	TAS
GO:0005794	Component	Golgi apparatus	IBA
GO:0006486	Process	Protein glycosylation	IEA
GO:0008375	Function	Acetylglucosaminyltransferase activity	IBA
GO:0008375	Function	Acetylglucosaminyltransferase activity	IEA
GO:0015012	Process	Heparan sulfate proteoglycan biosynthetic process	IDA	11390981
GO:0015012	Process	Heparan sulfate proteoglycan biosynthetic process	IEA
GO:0015020	Function	Glucuronosyltransferase activity	IBA
GO:0016020	Component	Membrane	IEA
GO:0016740	Function	Transferase activity	IEA
GO:0016757	Function	Glycosyltransferase activity	IEA
GO:0050508	Function	Glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity	IDA	11390981
GO:0050508	Function	Glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity	IEA

MIM	HGNC	e!Ensembl
601738	3515	ENSG00000158008

Q92935

Protein name

Exostosin-like 1 (EC 2.4.1.224) (Exostosin-L) (Glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase) (Multiple exostosis-like protein)

Protein function

Glycosyltransferase required for the biosynthesis of heparan-sulfate (HS) (PubMed:11390981). Transfers N-acetyl-alpha-D-glucosamine to the nascent HS chain (GlcNAcT-II activity) (PubMed:11390981). Appears to lack GlcNAcT I and GlcAT-II activitie

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF03016	Exostosin	88 → 335	Exostosin family	Family
PF09258	Glyco_transf_64	419 → 659	Glycosyl transferase family 64 domain	Domain

Sequence

MQSWRRRKSLWLALSASWLLLVLLGGFSLLRLALPPRPRPGASQGWPRWLDAELLQSFSQ
PGELPEDAVSPPQAPHGGSCNWESCFDTSKCRGDGLKVFVYPAVGTISETHRRILASIEG
SRFYTFSPAGACLLLLLSLDAQTGECSSMPLQWNRGRNHLVLRLHPAPCPRTFQLGQAMV
AEASPTVDSFRPGFDVALPFLPEAHPLRGGAPGQLRQHSPQPGVALLALEEERGGWRTAD
TGSSACPWDGRCEQDPGPGQTQRQETLPNATFCLISGHRPEAASRFLQALQAGCIPVLLS
PRWELPFSEVIDWTKAAIVADERLPLQVLAALQEMSPARVLALRQQTQFLWDAYFSSVEK
VIHTTLEVIQDRIFGTSAHPSLLWNSPPGALLALSTFSTSPQDFPFYYLQQGSRPEGRFS
ALIWVGPPGQPPLKLIQAVAGSQHCAQILVLWSNERPLPSRWPETAVPLTVIDGHRKVSD
RFYPYSTIRTDAILSLDARSSLSTSEVDFAFLVWQSFPERMVGFLTSSHFWDEAHGGWGY
TAERTNEFSMVLTTAAFYHRYYHTLFTHSLPKALRTLADEAPTCVDVLMNFIVAAVTKLP
PIKVPYGKQRQEAAPLAPGGPGPRPKPPAPAPDCINQIAAAFGHMPLLSSRLRLDPVLFK
DPVSVQRKKYRSLEKP

Sequence length

676

Interactions

View interactions

	KEGG		Reactome
	Glycosaminoglycan biosynthesis - heparan sulfate / heparin Metabolic pathways		XBP1(S) activates chaperone genes

Evidence Score: ★☆☆☆☆ Gene-disease association found in Text Mining only ★★☆☆☆ Found in Text Mining and Unknown/Other Associations ★★★☆☆ Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆ ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★ ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Show/Hide Unknown Diseases (1)

Phenotype Name	Clinical Significance	Source	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
LIVER CIRRHOSIS, EXPERIMENTAL	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (5)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Autoimmune Diseases	Autoimmune disease	Pubtator	36656709	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	35395711	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	29566670		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	15110891		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	BEFREE	10575224, 15110891		★★★★★ ★☆☆☆☆ Found in Text Mining only

EXTL1 (exostosin like glycosyltransferase 1)