Gnptg MGI Mouse Gene Detail - MGI:2147006 - N-acetylglucosamine-1-phosphotransferase, gamma subunit

Symbol

Gnptg
Name

N-acetylglucosamine-1-phosphotransferase, gamma subunit

Feature Type

protein coding gene
IDs

MGI:2147006
NCBI Gene: 214505
Alliance

gene page
Transcription Start Sites

1 TSS

Sequence Map

Chr17:25452305-25459098 bp, - strand
From Ensembl annotation of GRCm39
View this region in JBrowse
Genome Browsers

Ensembl | UCSC | NCBI

Genetic Map

Chromosome 17, 12.53 cM
Mapping Data

1 experiment

SNPs within 2kb

188 from dbSNP Build 142
Strain Annotations

18

For selected strains:

Strain	Gene Model ID	Feature Type	Coordinates
C57BL/6J	MGI_C57BL6J_2147006	protein coding gene	Chr17:25451324-25459302 (-)
129S1/SvImJ	MGP_129S1SvImJ_G0023345	protein coding gene	Chr17:24283339-24290964 (-)
A/J	MGP_AJ_G0023304	protein coding gene	Chr17:23604993-23610733 (-)
AKR/J	MGP_AKRJ_G0023270	protein coding gene	Chr17:23694693-23701664 (-)
BALB/cJ	MGP_BALBcJ_G0023309	protein coding gene	Chr17:23801708-23809282 (-)
C3H/HeJ	MGP_C3HHeJ_G0023069	protein coding gene	Chr17:24071289-24077820 (-)
C57BL/6NJ	MGP_C57BL6NJ_G0023751	protein coding gene	Chr17:25344698-25354209 (-)
CAROLI/EiJ	MGP_CAROLIEiJ_G0021227	protein coding gene	Chr17:21066302-21073186 (-)
CAST/EiJ	MGP_CASTEiJ_G0022571	protein coding gene	Chr17:23920142-23926824 (-)
CBA/J	MGP_CBAJ_G0023044	protein coding gene	Chr17:26210240-26216765 (-)
DBA/2J	MGP_DBA2J_G0023174	protein coding gene	Chr17:23190411-23196117 (-)
FVB/NJ	MGP_FVBNJ_G0023144	protein coding gene	Chr17:22918947-22925834 (-)
LP/J	MGP_LPJ_G0023251	protein coding gene	Chr17:24576606-24583577 (-)
NOD/ShiLtJ	MGP_NODShiLtJ_G0023163	protein coding gene	Chr17:25871273-25878250 (-)
NZO/HlLtJ	MGP_NZOHlLtJ_G0023791	protein coding gene	Chr17:23982455-23988139 (-)
PWK/PhJ	MGP_PWKPhJ_G0022320	protein coding gene	Chr17:21953196-21959994 (-)
SPRET/EiJ	MGP_SPRETEiJ_G0022138	protein coding gene	Chr17:22051460-22060612 (-)
WSB/EiJ	MGP_WSBEiJ_G0022634	protein coding gene	Chr17:24056715-24062737 (-)

Human Ortholog

GNPTG, N-acetylglucosamine-1-phosphate transferase subunit gamma

Vertebrate Orthologs

3

Vertebrate Orthology Source

Alliance of Genome Resources

Human Ortholog

GNPTG, N-acetylglucosamine-1-phosphate transferase subunit gamma
Synonyms

C16orf27, GNPTAG, LP2537, RJD9
Links

HGNC:23026

NCBI Gene ID: 84572

neXtProt AC: NX_Q9UJJ9

UniProt: Q9UJJ9
Chr Location

16p13.3; chr16:1351931-1365737 (+) GRCh38

MGI Vertebrate Homology

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

vertebrate homology predictions: GNPTG
Gene Tree

Gnptg

Diseases

2 with human GNPTG associations

				Human Disease	Mouse Models
				glycoproteinosis IDs glycoproteinosis DOID:3343 MESH:D009081 NCI:C61267 OMIM:256550 UMLS_CUI:C0026697
				mucolipidosis III gamma IDs mucolipidosis III gamma DOID:0080678 MESH:C565367 OMIM:252605 ORDO:423470

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

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Phenotype Summary

12 phenotypes from 2 alleles in 2 genetic backgrounds
15 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

8
Endonuclease-mediated

1
Radiation induced

2
Targeted

5
Genomic Mutations

2 involving Gnptg
Find Mice (IMSR)

10 strains or lines available
Comparison Matrix

Gene Expression + Phenotype

Mice homozygous for a knock-out allele show a partial loss of lysosomal enzyme phosphorylation.

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All GO Annotations

10
GO References

6

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

722
Tissues

14
cDNA Data

6
Literature Summary

1

Tissue x Stage Matrix

Comparison Matrix

Gene Expression + Phenotype

Other Mouse Links

Allen Institute

GEO

Expression Atlas
Other Vertebrate Links

Xenbase gnptg

ZFIN gnptg

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All Sequences

68
RefSeq

9
UniProt

4
CCDS

CCDS28511.1, CCDS89019.1

Ensembl

ENSMUSG00000035521 (Evidence)
NCBI Gene

214505

			Length	Strain/Species	Flank
genomic	ENSMUSG00000035521	Ensembl Gene Model \| MGI Sequence Detail	6794	C57BL/6J	± kb
transcript	ENSMUST00000115154	Ensembl \| MGI Sequence Detail	2249	Not Applicable
polypeptide	ENSMUSP00000110807	Ensembl \| MGI Sequence Detail	314	Not Applicable

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UniProt

4 Sequences
Protein Ontology

PR:000008126 N-acetylglucosamine-1-phosphotransferase subunit gamma

(term hierarchy)
InterPro Domains

IPR010506 DMAP1-binding domain

IPR039794 Glucosidase II beta subunit-like

IPR009011 Mannose-6-phosphate receptor binding domain superfamily

IPR044865 MRH domain

IPR012913 Protein OS9-like domain
GlyGen

Q6S5C2 2 sites, 3 N-linked glycans (1 site)

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All nucleic 7

cDNA 6

Primer pair 1

Microarray probesets 1

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MGI:2147005

Summaries

All 35

Developmental Gene Expression 1

Gene Ontology 6

Phenotypes 15
Earliest

J:86784 Bergstrom DE, et al., Overlapping deletions spanning the proximal two-thirds of the mouse t complex. Mamm Genome. 2003 Dec;14(12):817-29
Latest

J:345621 Adams DJ, et al., Genetic determinants of micronucleus formation in vivo. Nature. 2024 Mar;627(8002):130-136

TSS for Gnptg:

(View these features in JBrowse)

Transcription Start Site	Location	Distance from Gene 5'-end
Tssr146822	Chr17:25459086-25459132 (-)	-11 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