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

Gene Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.	1798
Gene name Gene Name - the full gene name approved by the HGNC.	Dolichyl-phosphate N-acetylglucosaminephosphotransferase 1
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	DPAGT1
Synonyms (NCBI Gene) Gene synonyms aliases	ALG7, CDG-Ij, CDG1J, CMS13, CMSTA2, D11S366, DGPT, DPAGT, DPAGT2, G1PT, GPT, UAGT, UGAT
Chromosome Chromosome number	11
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	11q23.3
Summary Summary of gene provided in NCBI Entrez Gene.	The protein encoded by this gene is an enzyme that catalyzes the first step in the dolichol-linked oligosaccharide pathway for glycoprotein biosynthesis. This enzyme belongs to the glycosyltransferase family 4. This protein is an integral membrane protein

Show/Hide all(5)

SNP ID	Visualize variation	Clinical significance	Consequence
rs138544311	A>C	Likely-benign, conflicting-interpretations-of-pathogenicity, not-provided	Coding sequence variant, intron variant, missense variant, 3 prime UTR variant, non coding transcript variant
rs387907245	A>C	Pathogenic	Missense variant, coding sequence variant, intron variant
rs397515321	->G	Pathogenic	Coding sequence variant, frameshift variant, non coding transcript variant
rs772988029	G>A	Likely-pathogenic	Coding sequence variant, intron variant, missense variant
rs1450090350	A>G	Likely-pathogenic	Non coding transcript variant, coding sequence variant, missense variant

Show/Hide all(223)

miRTarBase ID	miRNA	Experiments	Reference
MIRT027764	hsa-miR-98-5p	Microarray	19088304
MIRT943610	hsa-let-7a	CLIP-seq
MIRT943611	hsa-let-7b	CLIP-seq
MIRT943612	hsa-let-7c	CLIP-seq
MIRT943613	hsa-let-7d	CLIP-seq
MIRT943614	hsa-let-7e	CLIP-seq
MIRT943615	hsa-let-7f	CLIP-seq
MIRT943616	hsa-let-7g	CLIP-seq
MIRT943617	hsa-let-7i	CLIP-seq
MIRT943618	hsa-miR-105	CLIP-seq
MIRT943619	hsa-miR-1224-3p	CLIP-seq
MIRT943620	hsa-miR-1260	CLIP-seq
MIRT943621	hsa-miR-1260b	CLIP-seq
MIRT943622	hsa-miR-1261	CLIP-seq
MIRT943623	hsa-miR-1280	CLIP-seq
MIRT943624	hsa-miR-1285	CLIP-seq
MIRT943625	hsa-miR-1294	CLIP-seq
MIRT943626	hsa-miR-1827	CLIP-seq
MIRT943627	hsa-miR-202	CLIP-seq
MIRT943628	hsa-miR-203	CLIP-seq
MIRT943629	hsa-miR-2116	CLIP-seq
MIRT943630	hsa-miR-2682	CLIP-seq
MIRT943631	hsa-miR-3168	CLIP-seq
MIRT943632	hsa-miR-3173-3p	CLIP-seq
MIRT943633	hsa-miR-3187-5p	CLIP-seq
MIRT943634	hsa-miR-3192	CLIP-seq
MIRT943635	hsa-miR-320a	CLIP-seq
MIRT943636	hsa-miR-320b	CLIP-seq
MIRT943637	hsa-miR-320c	CLIP-seq
MIRT943638	hsa-miR-320d	CLIP-seq
MIRT943639	hsa-miR-3612	CLIP-seq
MIRT943640	hsa-miR-3613-3p	CLIP-seq
MIRT943641	hsa-miR-3649	CLIP-seq
MIRT943642	hsa-miR-3659	CLIP-seq
MIRT943643	hsa-miR-3691-5p	CLIP-seq
MIRT943644	hsa-miR-3713	CLIP-seq
MIRT943645	hsa-miR-3911	CLIP-seq
MIRT943646	hsa-miR-4293	CLIP-seq
MIRT943647	hsa-miR-4313	CLIP-seq
MIRT943648	hsa-miR-4314	CLIP-seq
MIRT943649	hsa-miR-4316	CLIP-seq
MIRT943650	hsa-miR-4429	CLIP-seq
MIRT943651	hsa-miR-4458	CLIP-seq
MIRT943652	hsa-miR-449c	CLIP-seq
MIRT943653	hsa-miR-4500	CLIP-seq
MIRT943654	hsa-miR-4646-5p	CLIP-seq
MIRT943655	hsa-miR-4658	CLIP-seq
MIRT943656	hsa-miR-4677-3p	CLIP-seq
MIRT943657	hsa-miR-4695-5p	CLIP-seq
MIRT943658	hsa-miR-4709-3p	CLIP-seq
MIRT943659	hsa-miR-4718	CLIP-seq
MIRT943660	hsa-miR-4733-5p	CLIP-seq
MIRT943661	hsa-miR-4752	CLIP-seq
MIRT943662	hsa-miR-4766-5p	CLIP-seq
MIRT943663	hsa-miR-4775	CLIP-seq
MIRT943664	hsa-miR-516b	CLIP-seq
MIRT943665	hsa-miR-550b	CLIP-seq
MIRT943666	hsa-miR-574-5p	CLIP-seq
MIRT943667	hsa-miR-612	CLIP-seq
MIRT943668	hsa-miR-622	CLIP-seq
MIRT943669	hsa-miR-650	CLIP-seq
MIRT943670	hsa-miR-661	CLIP-seq
MIRT943671	hsa-miR-663b	CLIP-seq
MIRT943672	hsa-miR-765	CLIP-seq
MIRT943673	hsa-miR-873	CLIP-seq
MIRT943674	hsa-miR-98	CLIP-seq
MIRT1548010	hsa-miR-199a-3p	CLIP-seq
MIRT1548011	hsa-miR-199b-3p	CLIP-seq
MIRT1548012	hsa-miR-3129-5p	CLIP-seq
MIRT1548013	hsa-miR-4668-3p	CLIP-seq
MIRT1548014	hsa-miR-936	CLIP-seq
MIRT943610	hsa-let-7a	CLIP-seq
MIRT943611	hsa-let-7b	CLIP-seq
MIRT943612	hsa-let-7c	CLIP-seq
MIRT943613	hsa-let-7d	CLIP-seq
MIRT943614	hsa-let-7e	CLIP-seq
MIRT943615	hsa-let-7f	CLIP-seq
MIRT943616	hsa-let-7g	CLIP-seq
MIRT943617	hsa-let-7i	CLIP-seq
MIRT1979441	hsa-miR-129-3p	CLIP-seq
MIRT943625	hsa-miR-1294	CLIP-seq
MIRT943626	hsa-miR-1827	CLIP-seq
MIRT1548010	hsa-miR-199a-3p	CLIP-seq
MIRT1548011	hsa-miR-199b-3p	CLIP-seq
MIRT943627	hsa-miR-202	CLIP-seq
MIRT1979442	hsa-miR-214	CLIP-seq
MIRT1979443	hsa-miR-2467-3p	CLIP-seq
MIRT943630	hsa-miR-2682	CLIP-seq
MIRT1979444	hsa-miR-31	CLIP-seq
MIRT1548012	hsa-miR-3129-5p	CLIP-seq
MIRT1979445	hsa-miR-3136-3p	CLIP-seq
MIRT943631	hsa-miR-3168	CLIP-seq
MIRT943632	hsa-miR-3173-3p	CLIP-seq
MIRT943634	hsa-miR-3192	CLIP-seq
MIRT943639	hsa-miR-3612	CLIP-seq
MIRT1979446	hsa-miR-3616-3p	CLIP-seq
MIRT1979447	hsa-miR-3619-5p	CLIP-seq
MIRT943641	hsa-miR-3649	CLIP-seq
MIRT1979448	hsa-miR-384	CLIP-seq
MIRT1979449	hsa-miR-3919	CLIP-seq
MIRT1979450	hsa-miR-4291	CLIP-seq
MIRT943646	hsa-miR-4293	CLIP-seq
MIRT943648	hsa-miR-4314	CLIP-seq
MIRT943649	hsa-miR-4316	CLIP-seq
MIRT1979451	hsa-miR-4326	CLIP-seq
MIRT943651	hsa-miR-4458	CLIP-seq
MIRT943652	hsa-miR-449c	CLIP-seq
MIRT943653	hsa-miR-4500	CLIP-seq
MIRT943654	hsa-miR-4646-5p	CLIP-seq
MIRT1548013	hsa-miR-4668-3p	CLIP-seq
MIRT943656	hsa-miR-4677-3p	CLIP-seq
MIRT1979452	hsa-miR-4687-5p	CLIP-seq
MIRT943657	hsa-miR-4695-5p	CLIP-seq
MIRT943660	hsa-miR-4733-5p	CLIP-seq
MIRT943668	hsa-miR-622	CLIP-seq
MIRT943669	hsa-miR-650	CLIP-seq
MIRT1979453	hsa-miR-761	CLIP-seq
MIRT943673	hsa-miR-873	CLIP-seq
MIRT1979454	hsa-miR-922	CLIP-seq
MIRT1548014	hsa-miR-936	CLIP-seq
MIRT943674	hsa-miR-98	CLIP-seq
MIRT943610	hsa-let-7a	CLIP-seq
MIRT943611	hsa-let-7b	CLIP-seq
MIRT943612	hsa-let-7c	CLIP-seq
MIRT943613	hsa-let-7d	CLIP-seq
MIRT943614	hsa-let-7e	CLIP-seq
MIRT943615	hsa-let-7f	CLIP-seq
MIRT943616	hsa-let-7g	CLIP-seq
MIRT943617	hsa-let-7i	CLIP-seq
MIRT943625	hsa-miR-1294	CLIP-seq
MIRT1548010	hsa-miR-199a-3p	CLIP-seq
MIRT1548011	hsa-miR-199b-3p	CLIP-seq
MIRT943627	hsa-miR-202	CLIP-seq
MIRT943628	hsa-miR-203	CLIP-seq
MIRT1979442	hsa-miR-214	CLIP-seq
MIRT1979443	hsa-miR-2467-3p	CLIP-seq
MIRT2214548	hsa-miR-298	CLIP-seq
MIRT1979444	hsa-miR-31	CLIP-seq
MIRT1548012	hsa-miR-3129-5p	CLIP-seq
MIRT1979446	hsa-miR-3616-3p	CLIP-seq
MIRT1979447	hsa-miR-3619-5p	CLIP-seq
MIRT2214549	hsa-miR-3678-3p	CLIP-seq
MIRT1979450	hsa-miR-4291	CLIP-seq
MIRT943646	hsa-miR-4293	CLIP-seq
MIRT943649	hsa-miR-4316	CLIP-seq
MIRT2214550	hsa-miR-4436a	CLIP-seq
MIRT943651	hsa-miR-4458	CLIP-seq
MIRT943653	hsa-miR-4500	CLIP-seq
MIRT2214551	hsa-miR-451b	CLIP-seq
MIRT2214552	hsa-miR-4522	CLIP-seq
MIRT943656	hsa-miR-4677-3p	CLIP-seq
MIRT2214553	hsa-miR-4714-5p	CLIP-seq
MIRT943662	hsa-miR-4766-5p	CLIP-seq
MIRT1979453	hsa-miR-761	CLIP-seq
MIRT943673	hsa-miR-873	CLIP-seq
MIRT1979454	hsa-miR-922	CLIP-seq
MIRT1548014	hsa-miR-936	CLIP-seq
MIRT943674	hsa-miR-98	CLIP-seq
MIRT943622	hsa-miR-1261	CLIP-seq
MIRT1979441	hsa-miR-129-3p	CLIP-seq
MIRT2518825	hsa-miR-140-5p	CLIP-seq
MIRT2518826	hsa-miR-185	CLIP-seq
MIRT943628	hsa-miR-203	CLIP-seq
MIRT1979445	hsa-miR-3136-3p	CLIP-seq
MIRT943631	hsa-miR-3168	CLIP-seq
MIRT943640	hsa-miR-3613-3p	CLIP-seq
MIRT943642	hsa-miR-3659	CLIP-seq
MIRT943643	hsa-miR-3691-5p	CLIP-seq
MIRT1979448	hsa-miR-384	CLIP-seq
MIRT943645	hsa-miR-3911	CLIP-seq
MIRT2518827	hsa-miR-4306	CLIP-seq
MIRT1979451	hsa-miR-4326	CLIP-seq
MIRT2518828	hsa-miR-4419a	CLIP-seq
MIRT2214550	hsa-miR-4436a	CLIP-seq
MIRT2518829	hsa-miR-4510	CLIP-seq
MIRT2214552	hsa-miR-4522	CLIP-seq
MIRT2518830	hsa-miR-4534	CLIP-seq
MIRT2518831	hsa-miR-4644	CLIP-seq
MIRT943655	hsa-miR-4658	CLIP-seq
MIRT1979452	hsa-miR-4687-5p	CLIP-seq
MIRT2518832	hsa-miR-4693-3p	CLIP-seq
MIRT2214553	hsa-miR-4714-5p	CLIP-seq
MIRT943660	hsa-miR-4733-5p	CLIP-seq
MIRT943661	hsa-miR-4752	CLIP-seq
MIRT943662	hsa-miR-4766-5p	CLIP-seq
MIRT2518833	hsa-miR-502-5p	CLIP-seq
MIRT2518834	hsa-miR-548aa	CLIP-seq
MIRT2518835	hsa-miR-548ac	CLIP-seq
MIRT2518836	hsa-miR-548d-3p	CLIP-seq
MIRT2518837	hsa-miR-548z	CLIP-seq
MIRT943666	hsa-miR-574-5p	CLIP-seq
MIRT943622	hsa-miR-1261	CLIP-seq
MIRT1979441	hsa-miR-129-3p	CLIP-seq
MIRT2518825	hsa-miR-140-5p	CLIP-seq
MIRT943628	hsa-miR-203	CLIP-seq
MIRT1979445	hsa-miR-3136-3p	CLIP-seq
MIRT943631	hsa-miR-3168	CLIP-seq
MIRT943635	hsa-miR-320a	CLIP-seq
MIRT943636	hsa-miR-320b	CLIP-seq
MIRT943637	hsa-miR-320c	CLIP-seq
MIRT943638	hsa-miR-320d	CLIP-seq
MIRT943640	hsa-miR-3613-3p	CLIP-seq
MIRT943642	hsa-miR-3659	CLIP-seq
MIRT943643	hsa-miR-3691-5p	CLIP-seq
MIRT1979448	hsa-miR-384	CLIP-seq
MIRT943645	hsa-miR-3911	CLIP-seq
MIRT1979451	hsa-miR-4326	CLIP-seq
MIRT943650	hsa-miR-4429	CLIP-seq
MIRT2214550	hsa-miR-4436a	CLIP-seq
MIRT2214552	hsa-miR-4522	CLIP-seq
MIRT943655	hsa-miR-4658	CLIP-seq
MIRT1979452	hsa-miR-4687-5p	CLIP-seq
MIRT2518832	hsa-miR-4693-3p	CLIP-seq
MIRT2214553	hsa-miR-4714-5p	CLIP-seq
MIRT943660	hsa-miR-4733-5p	CLIP-seq
MIRT943661	hsa-miR-4752	CLIP-seq
MIRT943662	hsa-miR-4766-5p	CLIP-seq
MIRT2518833	hsa-miR-502-5p	CLIP-seq
MIRT2518834	hsa-miR-548aa	CLIP-seq
MIRT2518835	hsa-miR-548ac	CLIP-seq
MIRT2518836	hsa-miR-548d-3p	CLIP-seq
MIRT2518837	hsa-miR-548z	CLIP-seq
MIRT943666	hsa-miR-574-5p	CLIP-seq

Show/Hide all(27)

GO ID	Ontology	Definition	Evidence	Reference
GO:0003975	Function	UDP-N-acetylglucosamine-dolichyl-phosphate N-acetylglucosaminephosphotransferase activity	IBA
GO:0003975	Function	UDP-N-acetylglucosamine-dolichyl-phosphate N-acetylglucosaminephosphotransferase activity	IDA	8179616, 29459785
GO:0003975	Function	UDP-N-acetylglucosamine-dolichyl-phosphate N-acetylglucosaminephosphotransferase activity	IEA
GO:0003975	Function	UDP-N-acetylglucosamine-dolichyl-phosphate N-acetylglucosaminephosphotransferase activity	IMP	12872255
GO:0003975	Function	UDP-N-acetylglucosamine-dolichyl-phosphate N-acetylglucosaminephosphotransferase activity	TAS
GO:0003976	Function	UDP-N-acetylglucosamine-lysosomal-enzyme N-acetylglucosaminephosphotransferase activity	IDA	6289658
GO:0005515	Function	Protein binding	IPI	32814053
GO:0005783	Component	Endoplasmic reticulum	IEA
GO:0005789	Component	Endoplasmic reticulum membrane	IEA
GO:0005789	Component	Endoplasmic reticulum membrane	ISS
GO:0005789	Component	Endoplasmic reticulum membrane	TAS
GO:0005794	Component	Golgi apparatus	IEA
GO:0006486	Process	Protein glycosylation	IEA
GO:0006487	Process	Protein N-linked glycosylation	IMP	19549906
GO:0006488	Process	Dolichol-linked oligosaccharide biosynthetic process	IDA	29459785
GO:0006488	Process	Dolichol-linked oligosaccharide biosynthetic process	IEA
GO:0006488	Process	Dolichol-linked oligosaccharide biosynthetic process	TAS
GO:0016020	Component	Membrane	IBA
GO:0016020	Component	Membrane	IDA	8179616
GO:0016020	Component	Membrane	IEA
GO:0016020	Component	Membrane	ISS
GO:0016740	Function	Transferase activity	IEA
GO:0016757	Function	Glycosyltransferase activity	IEA
GO:0016780	Function	Phosphotransferase activity, for other substituted phosphate groups	IEA
GO:0042802	Function	Identical protein binding	ISS
GO:0043231	Component	Intracellular membrane-bounded organelle	IDA	12872255
GO:0046872	Function	Metal ion binding	IEA

MIM	HGNC	e!Ensembl
191350	2995	ENSG00000172269

Protein

UniProt ID

Q9H3H5

Protein name

UDP-N-acetylglucosamine--dolichyl-phosphate N-acetylglucosaminephosphotransferase (EC 2.7.8.15) (GlcNAc-1-P transferase) (G1PT) (GPT) (N-acetylglucosamine-1-phosphate transferase)

Protein function

UDP-N-acetylglucosamine--dolichyl-phosphate N-acetylglucosaminephosphotransferase that operates in the biosynthetic pathway of dolichol-linked oligosaccharides, the glycan precursors employed in protein asparagine (N)-glycosylation. The assembly

PDB

5LEV , 5O5E , 6BW5 , 6BW6 , 6FM9 , 6FWZ , 6JQ3

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00953	Glycos_transf_4	98 → 270	Glycosyl transferase family 4	Family

Sequence

MWAFSELPMPLLINLIVSLLGFVATVTLIPAFRGHFIAARLCGQDLNKTSRQQIPESQGV
ISGAVFLIILFCFIPFPFLNCFVKEQCKAFPHHEFVALIGALLAICCMIFLGFADDVLNL
RWRHKLLLPTAASLPLLMVYFTNFGNTTIVVPKPFRPILGLHLDLGILYYVYMGLLAVFC
TNAINILAGINGLEAGQSLVISASIIVFNLVELEGDCRDDHVFSLYFMIPFFFTTLGLLY
HNWYPSRVFVGDTFCYFAGMTFAVVGILGHFSKTMLLFFMPQVFNFLYSLPQLLHIIPCP
RHRIPRLNIKTGKLEMSYSKFKTKSLSFLGTFILKVAESLQLVTVHQSETEDGEFTECNN
MTLINLLLKVLGPIHERNLTLLLLLLQILGSAITFSIRYQLVRLFYDV

Sequence length

408

Interactions

View interactions

	KEGG		Reactome
	N-Glycan biosynthesis Metabolic pathways		Biosynthesis of the N-glycan precursor (dolichol lipid-linked oligosaccharide, LLO) and transfer to a nascent protein Defective DPAGT1 causes DPAGT1-CDG (CDG-1j) and CMSTA2

Show/Hide Causal Diseases (2)

Disease merge term	Disease name	dbSNP ID	References
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
congenital disorder of glycosylation	Congenital disorder of glycosylation	rs768656482, rs397515327, rs1185483085	N/A
Myasthenic Syndrome	Congenital myasthenic syndrome 13	rs387907243, rs376039938, rs397515321, rs387907244, rs387907245	N/A

Show/Hide Text Mining Associations (30)

Disease Name	Relationship Type	References
Associations from Text Mining Disease associations identified through Pubtator
Alcohol Related Disorders	Associate	23249953
Brain Diseases	Associate	23249953
Breast Neoplasms	Associate	37463446
Carcinoma Squamous Cell	Stimulate	19549906
Congenital disorder of glycosylation type 1J	Associate	23591138
Congenital Disorders of Glycosylation	Associate	23249953, 26805780, 33407696
Epilepsy	Associate	23249953
Facial Dysmorphism with Multiple Malformations	Associate	23249953
Intellectual Disability	Associate	23249953, 24759841
Lymphoma B Cell	Associate	24069324
Lymphoma Mantle Cell	Associate	24069324
Lymphoma Non Hodgkin	Associate	24069324
Microcephaly	Associate	23249953
Mouth Neoplasms	Associate	19549906, 22341307
Multiple System Atrophy	Associate	23404334, 23591138
Muscle Hypotonia	Associate	23249953
Muscle Weakness	Associate	23591138
Muscular Diseases	Associate	24759841
Muscular Dystrophies Limb Girdle	Associate	22742743, 23591138
Myasthenic Syndromes Congenital	Associate	22742743, 23404334, 23447650, 23591138, 24759841, 26789134, 37721175
Myopathies Structural Congenital	Associate	24759841
Neoplasm Metastasis	Associate	23703614
Neoplasms	Associate	23703614, 32886511
Neuromuscular Diseases	Associate	23447650
Neuromuscular Junction Diseases	Associate	23591138, 37721175
Pancreatic Neoplasms	Associate	32886511
Signs and Symptoms	Associate	23591138
Squamous Cell Carcinoma of Head and Neck	Associate	19549906, 22341307, 23703614, 32901097
Stuttering	Associate	20147709
Uterine Cervical Neoplasms	Associate	32306508

DPAGT1 (dolichyl-phosphate N-acetylglucosaminephosphotransferase 1)