Dpagt1 MGI Mouse Gene Detail - MGI:1196396 - dolichyl-phosphate N-acetylglucosaminephosphotransferase 1

Symbol

Dpagt1
Name

dolichyl-phosphate N-acetylglucosaminephosphotransferase 1
Synonyms

Dpagt2, Gnpta, GPT

Feature Type

protein coding gene
IDs

MGI:1196396
NCBI Gene: 13478
Alliance

gene page
Transcription Start Sites

10 TSS

Sequence Map

Chr9:44237316-44245197 bp, + strand
From Ensembl annotation of GRCm39
View this region in JBrowse
Genome Browsers

Ensembl | UCSC | NCBI

Genetic Map

Chromosome 9, 24.84 cM
Mapping Data

5 experiments

SNPs within 2kb

289 from dbSNP Build 142
Strain Annotations

18

For selected strains:

Strain	Gene Model ID	Feature Type	Coordinates
C57BL/6J	MGI_C57BL6J_1196396	protein coding gene	Chr9:44237314-44247374 (+)
129S1/SvImJ	MGP_129S1SvImJ_G0034701	protein coding gene	Chr9:42808631-42816566 (+)
A/J	MGP_AJ_G0034682	protein coding gene	Chr9:41620242-41628050 (+)
AKR/J	MGP_AKRJ_G0034608	protein coding gene	Chr9:42479579-42487005 (+)
BALB/cJ	MGP_BALBcJ_G0034673	protein coding gene	Chr9:41368155-41375657 (+)
C3H/HeJ	MGP_C3HHeJ_G0034384	protein coding gene	Chr9:42935033-42944342 (+)
C57BL/6NJ	MGP_C57BL6NJ_G0035194	protein coding gene	Chr9:44078176-44090306 (+)
CAROLI/EiJ	MGP_CAROLIEiJ_G0032109	protein coding gene	Chr9:41199595-41206387 (+)
CAST/EiJ	MGP_CASTEiJ_G0033706	protein coding gene	Chr9:42777468-42785668 (+)
CBA/J	MGP_CBAJ_G0034356	protein coding gene	Chr9:45682921-45692869 (+)
DBA/2J	MGP_DBA2J_G0034515	protein coding gene	Chr9:41522084-41529036 (+)
FVB/NJ	MGP_FVBNJ_G0034456	protein coding gene	Chr9:40773155-40783528 (+)
LP/J	MGP_LPJ_G0034596	protein coding gene	Chr9:43107542-43115583 (+)
NOD/ShiLtJ	MGP_NODShiLtJ_G0034500	protein coding gene	Chr9:47531379-47538165 (+)
NZO/HlLtJ	MGP_NZOHlLtJ_G0035215	protein coding gene	Chr9:42378138-42385840 (+)
PWK/PhJ	MGP_PWKPhJ_G0033412	protein coding gene	Chr9:41394021-41400807 (+)
SPRET/EiJ	MGP_SPRETEiJ_G0033246	protein coding gene	Chr9:42699386-42706092 (+)
WSB/EiJ	MGP_WSBEiJ_G0033819	protein coding gene	Chr9:42419478-42426183 (+)

Human Ortholog

DPAGT1, dolichyl-phosphate N-acetylglucosaminephosphotransferase 1

Vertebrate Orthologs

3

Vertebrate Orthology Source

Alliance of Genome Resources

Human Ortholog

DPAGT1, dolichyl-phosphate N-acetylglucosaminephosphotransferase 1
Synonyms

ALG7, CDG1J, CDG-Ij, CMS13, CMSTA2, D11S366, DGPT, DPAGT, DPAGT2, G1PT, GPT, UAGT, UGAT
Links

HGNC:2995

NCBI Gene ID: 1798

neXtProt AC: NX_Q9H3H5

UniProt: Q9H3H5
Chr Location

11q23.3; chr11:119093874-119108331 (-) GRCh38

MGI Vertebrate Homology

Dpagt1 stringent orthology
1 human;1 mouse;1 rat;1 zebrafish
HCOP

vertebrate homology predictions: DPAGT1
Gene Tree

Dpagt1

Diseases

2 with human DPAGT1 associations

				Human Disease	Mouse Models
				congenital disorder of glycosylation Ij IDs congenital disorder of glycosylation Ij DOID:0080562 OMIM:608093 ORDO:86309
				congenital myasthenic syndrome 13 IDs congenital myasthenic syndrome 13 DOID:0110676 OMIM:614750

Click on a disease name to see all genes associated with that disease.

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Phenotype Summary

4 phenotypes from 3 alleles in 2 genetic backgrounds
11 phenotype references

Phenotype Overview

Blue squares indicate phenotypes directly attributed to mutations/alleles of this gene.

adipose tissue	behavior/neurological	cardiovascular system	cellular	craniofacial	digestive/alimentary system	embryo	endocrine/exocrine glands	growth/size/body	hearing/vestibular/ear	hematopoietic system	homeostasis/metabolism	integument	immune system	limbs/digits/tail	liver/biliary system	mortality/aging	muscle	nervous system	pigmentation	renal/urinary system	reproductive system	respiratory system	skeleton	taste/olfaction	neoplasm	vision/eye

Click cells to view annotations.

All Mutations and Alleles

21
Chemically induced (ENU)

1
Endonuclease-mediated

3
Gene trapped

14
Targeted

3
Incidental Mutations

APF
Find Mice (IMSR)

22 strains or lines available

Mice homozygous for a disruption in this gene display an embryonic lethal phenotype due to widespread cell death.

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All GO Annotations

21
GO References

9

Molecular Function

carbohydrate derivative binding	cytoskeletal protein binding	DNA binding	enzyme regulator	hydrolase	ligase	lipid binding	oxidoreductase	RNA binding	signaling receptor activity	signaling receptor binding	transcription	transferase	transporter

Biological Process

carbohydrate derivative metabolism	cell differentiation	cell population proliferation	cellular component organization	DNA-templated transcription	establishment of localization	homeostatic process	immune system process	lipid metabolic process	programmed cell death	protein metabolic process	response to stimulus	signaling	system development

Cellular Component

cell projection	cytoplasmic vesicle	cytoskeleton	cytosol	endoplasmic reticulum	endosome	extracellular region	Golgi apparatus	mitochondrion	membraneless organelle	nucleus	organelle envelope	organelle lumen	plasma membrane	protein-containing complex	synapse	vacuole

Click cells to view annotations.

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Expression Overview

GXD's primary emphasis is on endogenous gene expression during development. Click on grid cells to view annotations.

Blue cells = expressed in wild-type.
Gray triangles = other expression annotations only
(e.g. absence of expression or data from mutants).

early conceptus	embryo ectoderm	embryo endoderm	embryo mesoderm	embryo mesenchyme	extraembryonic component	alimentary system	auditory system	branchial arches	cardiovascular system	connective tissue	endocrine system	exocrine system	hemolymphoid system	integumental system	limbs	liver and biliary system	musculoskeletal system	nervous system	olfactory system	reproductive system	respiratory system	urinary system	visual system

Click cells to view annotations.

Assay Results

800
Tissues

94
cDNA Data

95
Literature Summary

1

Tissue x Stage Matrix

Other Mouse Links

Allen Institute

GEO

Expression Atlas
Other Vertebrate Links

Xenbase dpagt1

ZFIN dpagt1

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All Sequences

62
RefSeq

10
UniProt

4
CCDS

CCDS23104.1

Ensembl

ENSMUSG00000032123 (Evidence)
NCBI Gene

13478

			Length	Strain/Species	Flank
genomic	ENSMUSG00000032123	Ensembl Gene Model \| MGI Sequence Detail	7882	C57BL/6J	± kb
transcript	ENSMUST00000054708	Ensembl \| MGI Sequence Detail	2205	Not Applicable
polypeptide	ENSMUSP00000056282	Ensembl \| MGI Sequence Detail	410	Not Applicable

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UniProt

4 Sequences
Protein Ontology

PR:000006643 UDP-N-acetylglucosamine--dolichyl-phosphate N-acetylglucosaminephosphotransferase

(term hierarchy)
PDB

6JQ2
EC

2.7.8.15
InterPro Domains

IPR048439 DPAGT1, insertion domain

IPR000715 Glycosyl transferase, family 4

IPR033895 UDP-GlcNAc-dolichyl-phosphate GlcNAc phosphotransferase
GlyGen

P42867 1 site

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All nucleic 105

Genomic 10

cDNA 95

Microarray probesets 3

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MGD-MRK-10207, MGI:2143209, MGI:95788

Summaries

All 46

Developmental Gene Expression 1

Gene Ontology 9

Phenotypes 11
Earliest

J:47505 Varki A, et al., Demonstration of the heterozygous state for I-cell disease and pseudo-Hurler polydystrophy by assay of N-acetylglucosaminylphosphotransferase in white blood cells and fibroblasts. Am J Hum Genet. 1982 Sep;34(5):717-29
Latest

J:330157 Hyde LF, et al., A Dpagt1 Missense Variant Causes Degenerative Retinopathy without Myasthenic Syndrome in Mice. Int J Mol Sci. 2022 Oct 9;23(19)

TSS for Dpagt1:

(View these features in JBrowse)

Transcription Start Site	Location	Distance from Gene 5'-end
Tssr84632	Chr9:44237829-44237873 (+)	535 bp
Tssr84633	Chr9:44238101-44238193 (+)	831 bp
Tssr84634	Chr9:44238285-44238296 (+)	975 bp
Tssr84635	Chr9:44238324-44238335 (+)	1,014 bp
Tssr84636	Chr9:44238338-44238355 (+)	1,031 bp
Tssr84637	Chr9:44238821-44238837 (+)	1,513 bp
Tssr84638	Chr9:44238841-44238857 (+)	1,533 bp
Tssr84639	Chr9:44238873-44238900 (+)	1,571 bp
Tssr84640	Chr9:44238903-44238918 (+)	1,595 bp
Tssr84641	Chr9:44240352-44240365 (+)	3,043 bp

Contributing Projects: Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
Citing These Resources Funding Information Warranty Disclaimer, Privacy Notice, Licensing, & Copyright Send questions and comments to User Support.	last database update 11/19/2024 MGI 6.24