Type |
Details |
Score |
Gene |
Type: |
gene |
Organism: |
human |
|
•
•
•
•
•
|
Gene |
Type: |
gene |
Organism: |
frog, western clawed |
|
•
•
•
•
•
|
Gene |
|
•
•
•
•
•
|
Gene |
Type: |
gene |
Organism: |
chimpanzee |
|
•
•
•
•
•
|
Gene |
Type: |
gene |
Organism: |
cattle |
|
•
•
•
•
•
|
Gene |
Type: |
gene |
Organism: |
dog, domestic |
|
•
•
•
•
•
|
Gene |
Type: |
gene |
Organism: |
chicken |
|
•
•
•
•
•
|
Gene |
Type: |
gene |
Organism: |
zebrafish |
|
•
•
•
•
•
|
Gene |
Type: |
gene |
Organism: |
macaque, rhesus |
|
•
•
•
•
•
|
Protein Coding Gene |
Type: |
protein_coding_gene |
Organism: |
mouse, laboratory |
|
•
•
•
•
•
|
Protein Domain |
Type: |
Family |
Description: |
N-acetylglucosamine-1-phosphotransferase subunit gamma (GNPTG) is a non-catalytic component of the N-acetylglucosamine-1-phosphotransferase complex. The complex is lysoosomal and a heterohexamer consisting of two alpha, two beta and two gamma subunits, and is required for the first step in the synthesis of the mannose 6-phosphate recognition marker on lysosomal acid hydrolases. The gamma subunit facilitates the addition of a second GlcNAc-P to the high mannose oligosaccharides of the substrates []. Mutations in the gene for the gamma subunit are associated with mucolipidosis type III complementation group C (MLIIIC), an autosomal recessive disease of lysosomal hydrolase trafficking []. |
|
•
•
•
•
•
|
Publication |
First Author: |
Qian Y |
Year: |
2010 |
Journal: |
J Biol Chem |
Title: |
Functions of the alpha, beta, and gamma subunits of UDP-GlcNAc:lysosomal enzyme N-acetylglucosamine-1-phosphotransferase. |
Volume: |
285 |
Issue: |
5 |
Pages: |
3360-70 |
|
•
•
•
•
•
|
Protein |
Organism: |
Mus musculus/domesticus |
Length: |
307
 |
Fragment?: |
false |
|
•
•
•
•
•
|
Protein |
Organism: |
Mus musculus/domesticus |
Length: |
314
 |
Fragment?: |
false |
|
•
•
•
•
•
|
Protein |
Organism: |
Mus musculus/domesticus |
Length: |
341
 |
Fragment?: |
false |
|
•
•
•
•
•
|
Protein |
Organism: |
Mus musculus/domesticus |
Length: |
307
 |
Fragment?: |
false |
|
•
•
•
•
•
|
Publication |
First Author: |
Raas-Rothschild A |
Year: |
2000 |
Journal: |
J Clin Invest |
Title: |
Molecular basis of variant pseudo-hurler polydystrophy (mucolipidosis IIIC) |
Volume: |
105 |
Issue: |
5 |
Pages: |
673-81 |
|
•
•
•
•
•
|
Publication |
First Author: |
Westermann LM |
Year: |
2020 |
Journal: |
Dis Model Mech |
Title: |
Imbalanced cellular metabolism compromises cartilage homeostasis and joint function in a mouse model of mucolipidosis type III gamma. |
Volume: |
13 |
Issue: |
11 |
|
|
•
•
•
•
•
|
Publication |
First Author: |
Di Lorenzo G |
Year: |
2018 |
Journal: |
Mol Cell Proteomics |
Title: |
Lysosomal Proteome and Secretome Analysis Identifies Missorted Enzymes and Their Nondegraded Substrates in Mucolipidosis III Mouse Cells. |
Volume: |
17 |
Issue: |
8 |
Pages: |
1612-1626 |
|
•
•
•
•
•
|
Protein Coding Gene |
Type: |
protein_coding_gene |
Organism: |
Mus caroli |
|
•
•
•
•
•
|
Protein Coding Gene |
Type: |
protein_coding_gene |
Organism: |
mouse, laboratory |
|
•
•
•
•
•
|
Protein Coding Gene |
Type: |
protein_coding_gene |
Organism: |
mouse, laboratory |
|
•
•
•
•
•
|
Protein Coding Gene |
Type: |
protein_coding_gene |
Organism: |
mouse, laboratory |
|
•
•
•
•
•
|
Protein Coding Gene |
Type: |
protein_coding_gene |
Organism: |
mouse, laboratory |
|
•
•
•
•
•
|
Protein Coding Gene |
Type: |
protein_coding_gene |
Organism: |
mouse, laboratory |
|
•
•
•
•
•
|
Protein Coding Gene |
Type: |
protein_coding_gene |
Organism: |
mouse, laboratory |
|
•
•
•
•
•
|
Protein Coding Gene |
Type: |
protein_coding_gene |
Organism: |
mouse, laboratory |
|
•
•
•
•
•
|
Protein Coding Gene |
Type: |
protein_coding_gene |
Organism: |
mouse, laboratory |
|
•
•
•
•
•
|
Protein Coding Gene |
Type: |
protein_coding_gene |
Organism: |
mouse, laboratory |
|
•
•
•
•
•
|
Protein Coding Gene |
Type: |
protein_coding_gene |
Organism: |
mouse, laboratory |
|
•
•
•
•
•
|
Protein Coding Gene |
Type: |
protein_coding_gene |
Organism: |
mouse, laboratory |
|
•
•
•
•
•
|
Protein Coding Gene |
Type: |
protein_coding_gene |
Organism: |
mouse, laboratory |
|
•
•
•
•
•
|
Protein Coding Gene |
Type: |
protein_coding_gene |
Organism: |
mouse, laboratory |
|
•
•
•
•
•
|
Protein Coding Gene |
Type: |
protein_coding_gene |
Organism: |
mouse, laboratory |
|
•
•
•
•
•
|
Protein Coding Gene |
Type: |
protein_coding_gene |
Organism: |
mouse, laboratory |
|
•
•
•
•
•
|
Protein Coding Gene |
Type: |
protein_coding_gene |
Organism: |
mouse, laboratory |
|
•
•
•
•
•
|
Protein Coding Gene |
Type: |
protein_coding_gene |
Organism: |
Mus pahari |
|
•
•
•
•
•
|
Protein Coding Gene |
Type: |
protein_coding_gene |
Organism: |
Mus spretus |
|
•
•
•
•
•
|
Publication |
First Author: |
Sun Q |
Year: |
2005 |
Journal: |
Gene |
Title: |
Overexpression of mouse GlcNAc-1-phosphotransferase-gamma subunit in cells induced an I-cell-like phenotype of mucolipidosis. |
Volume: |
347 |
Issue: |
1 |
Pages: |
55-64 |
|
•
•
•
•
•
|
Publication |
First Author: |
Encarnação M |
Year: |
2011 |
Journal: |
J Biol Chem |
Title: |
Post-translational modifications of the gamma-subunit affect intracellular trafficking and complex assembly of GlcNAc-1-phosphotransferase. |
Volume: |
286 |
Issue: |
7 |
Pages: |
5311-8 |
|
•
•
•
•
•
|
GXD Expression |
Probe: |
MGI:3711343 |
Assay Type: |
RT-PCR |
Annotation Date: |
2007-06-12 |
Strength: |
Present |
Sex: |
Not Specified |
Emaps: |
EMAPS:1603917 |
|
Stage: |
TS17 |
Assay Id: |
MGI:3711347 |
Age: |
embryonic day 10.5 |
|
|
Specimen Label: |
7 |
Detected: |
true |
Specimen Num: |
7 |
|
•
•
•
•
•
|
GXD Expression |
Probe: |
MGI:3711343 |
Assay Type: |
RT-PCR |
Annotation Date: |
2007-06-12 |
Strength: |
Present |
Sex: |
Not Specified |
Emaps: |
EMAPS:1672828 |
|
Stage: |
TS28 |
Assay Id: |
MGI:3711347 |
Age: |
postnatal |
|
|
Specimen Label: |
6 |
Detected: |
true |
Specimen Num: |
6 |
|
•
•
•
•
•
|
GXD Expression |
Probe: |
MGI:3711343 |
Assay Type: |
RT-PCR |
Annotation Date: |
2007-06-12 |
Strength: |
Present |
Sex: |
Not Specified |
Emaps: |
EMAPS:1689428 |
|
Stage: |
TS28 |
Assay Id: |
MGI:3711347 |
Age: |
postnatal |
|
|
Specimen Label: |
8 |
Detected: |
true |
Specimen Num: |
8 |
|
•
•
•
•
•
|
GXD Expression |
Probe: |
MGI:3711343 |
Assay Type: |
RT-PCR |
Annotation Date: |
2007-06-12 |
Strength: |
Present |
Sex: |
Male |
Emaps: |
EMAPS:1797228 |
|
Stage: |
TS28 |
Assay Id: |
MGI:3711347 |
Age: |
postnatal |
|
|
Specimen Label: |
9 |
Detected: |
true |
Specimen Num: |
9 |
|
•
•
•
•
•
|
GXD Expression |
Probe: |
MGI:3711343 |
Assay Type: |
RT-PCR |
Annotation Date: |
2007-06-12 |
Strength: |
Present |
Sex: |
Not Specified |
Emaps: |
EMAPS:1684628 |
|
Stage: |
TS28 |
Assay Id: |
MGI:3711347 |
Age: |
postnatal |
|
|
Specimen Label: |
10 |
Detected: |
true |
Specimen Num: |
10 |
|
•
•
•
•
•
|
GXD Expression |
Probe: |
MGI:3711343 |
Assay Type: |
RT-PCR |
Annotation Date: |
2007-06-12 |
Strength: |
Present |
Sex: |
Not Specified |
Emaps: |
EMAPS:1876828 |
|
Stage: |
TS28 |
Assay Id: |
MGI:3711347 |
Age: |
postnatal |
|
|
Specimen Label: |
11 |
Detected: |
true |
Specimen Num: |
11 |
|
•
•
•
•
•
|
GXD Expression |
Probe: |
MGI:3711343 |
Assay Type: |
RT-PCR |
Annotation Date: |
2007-06-12 |
Strength: |
Present |
Sex: |
Not Specified |
Emaps: |
EMAPS:3287428 |
|
Stage: |
TS28 |
Assay Id: |
MGI:3711347 |
Age: |
postnatal |
|
|
Specimen Label: |
12 |
Detected: |
true |
Specimen Num: |
12 |
|
•
•
•
•
•
|
GXD Expression |
Probe: |
MGI:3711343 |
Assay Type: |
RT-PCR |
Annotation Date: |
2007-06-12 |
Strength: |
Present |
Sex: |
Not Specified |
Emaps: |
EMAPS:3557728 |
|
Stage: |
TS28 |
Assay Id: |
MGI:3711347 |
Age: |
postnatal |
|
|
Specimen Label: |
13 |
Detected: |
true |
Specimen Num: |
13 |
|
•
•
•
•
•
|
GXD Expression |
Probe: |
MGI:3711343 |
Assay Type: |
RT-PCR |
Annotation Date: |
2007-06-12 |
Strength: |
Present |
Sex: |
Not Specified |
Emaps: |
EMAPS:1610528 |
|
Stage: |
TS28 |
Assay Id: |
MGI:3711347 |
Age: |
postnatal |
|
|
Specimen Label: |
14 |
Detected: |
true |
Specimen Num: |
14 |
|
•
•
•
•
•
|
GXD Expression |
Probe: |
MGI:3711343 |
Assay Type: |
RT-PCR |
Annotation Date: |
2007-06-12 |
Strength: |
Present |
Sex: |
Not Specified |
Emaps: |
EMAPS:1752528 |
|
Stage: |
TS28 |
Assay Id: |
MGI:3711347 |
Age: |
postnatal |
|
|
Specimen Label: |
15 |
Detected: |
true |
Specimen Num: |
15 |
|
•
•
•
•
•
|
GXD Expression |
Probe: |
MGI:3711343 |
Assay Type: |
RT-PCR |
Annotation Date: |
2007-06-12 |
Strength: |
Present |
Sex: |
Female |
Emaps: |
EMAPS:1796228 |
|
Stage: |
TS28 |
Assay Id: |
MGI:3711347 |
Age: |
postnatal |
|
|
Specimen Label: |
16 |
Detected: |
true |
Specimen Num: |
16 |
|
•
•
•
•
•
|
GXD Expression |
Probe: |
MGI:3711343 |
Assay Type: |
RT-PCR |
Annotation Date: |
2007-06-12 |
Strength: |
Present |
Sex: |
Not Specified |
Emaps: |
EMAPS:1876728 |
|
Stage: |
TS28 |
Assay Id: |
MGI:3711347 |
Age: |
postnatal |
|
|
Specimen Label: |
17 |
Detected: |
true |
Specimen Num: |
17 |
|
•
•
•
•
•
|
GXD Expression |
Probe: |
MGI:3711343 |
Assay Type: |
RT-PCR |
Annotation Date: |
2007-06-12 |
Strength: |
Present |
Sex: |
Not Specified |
Emaps: |
EMAPS:1750328 |
|
Stage: |
TS28 |
Assay Id: |
MGI:3711347 |
Age: |
postnatal |
|
|
Specimen Label: |
18 |
Detected: |
true |
Specimen Num: |
18 |
|
•
•
•
•
•
|
GXD Expression |
Probe: |
MGI:3711343 |
Assay Type: |
RT-PCR |
Annotation Date: |
2007-06-12 |
Strength: |
Present |
Sex: |
Not Specified |
Emaps: |
EMAPS:1737328 |
|
Stage: |
TS28 |
Assay Id: |
MGI:3711347 |
Age: |
postnatal |
|
|
Specimen Label: |
19 |
Detected: |
true |
Specimen Num: |
19 |
|
•
•
•
•
•
|
GXD Expression |
Probe: |
MGI:3711344 |
Assay Type: |
Northern blot |
Annotation Date: |
2007-06-12 |
Strength: |
Present |
Sex: |
Not Specified |
Emaps: |
EMAPS:1689428 |
|
Stage: |
TS28 |
Assay Id: |
MGI:3711458 |
Age: |
postnatal |
|
|
Specimen Label: |
8 |
Detected: |
true |
Specimen Num: |
1 |
|
•
•
•
•
•
|
GXD Expression |
Probe: |
MGI:3711344 |
Assay Type: |
Northern blot |
Annotation Date: |
2007-06-12 |
Strength: |
Present |
Sex: |
Not Specified |
Emaps: |
EMAPS:1684628 |
|
Stage: |
TS28 |
Assay Id: |
MGI:3711458 |
Age: |
postnatal |
|
|
Specimen Label: |
10 |
Detected: |
true |
Specimen Num: |
2 |
|
•
•
•
•
•
|
Publication |
First Author: |
Lee WS |
Year: |
2007 |
Journal: |
J Biol Chem |
Title: |
Murine UDP-GlcNAc:lysosomal enzyme N-acetylglucosamine-1-phosphotransferase lacking the gamma-subunit retains substantial activity toward acid hydrolases. |
Volume: |
282 |
Issue: |
37 |
Pages: |
27198-203 |
|
•
•
•
•
•
|
Publication |
First Author: |
Vogel P |
Year: |
2009 |
Journal: |
Vet Pathol |
Title: |
Comparative pathology of murine mucolipidosis types II and IIIC. |
Volume: |
46 |
Issue: |
2 |
Pages: |
313-24 |
|
•
•
•
•
•
|
Publication |
First Author: |
Idol RA |
Year: |
2014 |
Journal: |
PLoS One |
Title: |
Neurologic abnormalities in mouse models of the lysosomal storage disorders mucolipidosis II and mucolipidosis III γ. |
Volume: |
9 |
Issue: |
10 |
Pages: |
e109768 |
|
•
•
•
•
•
|
Publication |
First Author: |
Schrader KA |
Year: |
2011 |
Journal: |
J Pathol |
Title: |
Using next-generation sequencing for the diagnosis of rare disorders: a family with retinitis pigmentosa and skeletal abnormalities. |
Volume: |
225 |
Issue: |
1 |
Pages: |
12-8 |
|
•
•
•
•
•
|
Publication |
First Author: |
MGI and IMPC |
Year: |
2018 |
Journal: |
Database Release |
Title: |
MGI Load of Endonuclease-Mediated Alleles (CRISPR) from the International Mouse Phenotyping Consortium (IMPC) |
|
|
|
|
•
•
•
•
•
|
Publication |
First Author: |
Velocigene |
Year: |
2008 |
Journal: |
MGI Direct Data Submission |
Title: |
Alleles produced for the KOMP project by Velocigene (Regeneron Pharmaceuticals) |
|
|
|
|
•
•
•
•
•
|
Publication |
First Author: |
Wellcome Trust Sanger Institute |
Year: |
2009 |
Journal: |
MGI Direct Data Submission |
Title: |
Alleles produced for the KOMP project by the Wellcome Trust Sanger Institute |
|
|
|
|
•
•
•
•
•
|
Publication |
First Author: |
Mouse Genome Informatics and the International Mouse Phenotyping Consortium (IMPC) |
Year: |
2014 |
Journal: |
Database Release |
Title: |
Obtaining and Loading Phenotype Annotations from the International Mouse Phenotyping Consortium (IMPC) Database |
|
|
|
|
•
•
•
•
•
|
Publication |
First Author: |
The Gene Ontology Consortium |
Year: |
2014 |
|
Title: |
Automated transfer of experimentally-verified manual GO annotation data to mouse-rat orthologs |
|
|
|
|
•
•
•
•
•
|
Publication |
First Author: |
UniProt-GOA |
Year: |
2012 |
|
Title: |
Gene Ontology annotation based on UniProtKB/Swiss-Prot Subcellular Location vocabulary mapping, accompanied by conservative changes to GO terms applied by UniProt |
|
|
|
|
•
•
•
•
•
|
Publication |
First Author: |
Mouse Genome Informatics Scientific Curators |
Year: |
2003 |
|
Title: |
MGI Sequence Curation Reference |
|
|
|
|
•
•
•
•
•
|
Publication |
First Author: |
Adams DJ |
Year: |
2024 |
Journal: |
Nature |
Title: |
Genetic determinants of micronucleus formation in vivo. |
Volume: |
627 |
Issue: |
8002 |
Pages: |
130-136 |
|
•
•
•
•
•
|
Publication |
First Author: |
Skarnes WC |
Year: |
2011 |
Journal: |
Nature |
Title: |
A conditional knockout resource for the genome-wide study of mouse gene function. |
Volume: |
474 |
Issue: |
7351 |
Pages: |
337-42 |
|
•
•
•
•
•
|
Publication |
First Author: |
AgBase, BHF-UCL, Parkinson's UK-UCL, dictyBase, HGNC, Roslin Institute, FlyBase and UniProtKB curators |
Year: |
2011 |
|
Title: |
Manual transfer of experimentally-verified manual GO annotation data to orthologs by curator judgment of sequence similarity |
|
|
|
|
•
•
•
•
•
|
Publication |
First Author: |
The Jackson Laboratory Mouse Radiation Hybrid Database |
Year: |
2004 |
Journal: |
Database Release |
Title: |
Mouse T31 Radiation Hybrid Data Load |
|
|
|
|
•
•
•
•
•
|
Publication |
First Author: |
The Gene Ontology Consortium |
Year: |
2010 |
|
Title: |
Automated transfer of experimentally-verified manual GO annotation data to mouse-human orthologs |
|
|
|
|
•
•
•
•
•
|
Publication |
First Author: |
Diez-Roux G |
Year: |
2011 |
Journal: |
PLoS Biol |
Title: |
A high-resolution anatomical atlas of the transcriptome in the mouse embryo. |
Volume: |
9 |
Issue: |
1 |
Pages: |
e1000582 |
|
•
•
•
•
•
|
Publication |
First Author: |
Marc Feuermann, Huaiyu Mi, Pascale Gaudet, Dustin Ebert, Anushya Muruganujan, Paul Thomas |
Year: |
2010 |
|
Title: |
Annotation inferences using phylogenetic trees |
|
|
|
|
•
•
•
•
•
|
Publication |
First Author: |
Mouse Genome Database and National Center for Biotechnology Information |
Year: |
2000 |
Journal: |
Database Release |
Title: |
Entrez Gene Load |
|
|
|
|
•
•
•
•
•
|
Publication |
First Author: |
Allen Institute for Brain Science |
Year: |
2004 |
Journal: |
Allen Institute |
Title: |
Allen Brain Atlas: mouse riboprobes |
|
|
|
|
•
•
•
•
•
|
Publication |
First Author: |
Mouse Genome Informatics Scientific Curators |
Year: |
2009 |
Journal: |
Database Download |
Title: |
Mouse Microarray Data Integration in Mouse Genome Informatics, the Affymetrix GeneChip Mouse Gene 1.0 ST Array Platform |
|
|
|
|
•
•
•
•
•
|
Publication |
First Author: |
Mouse Genome Informatics (MGI) and The National Center for Biotechnology Information (NCBI) |
Year: |
2010 |
Journal: |
Database Download |
Title: |
Consensus CDS project |
|
|
|
|
•
•
•
•
•
|
Publication |
First Author: |
Mouse Genome Informatics Group |
Year: |
2003 |
Journal: |
Database Procedure |
Title: |
Automatic Encodes (AutoE) Reference |
|
|
|
|
•
•
•
•
•
|
Publication |
First Author: |
Bairoch A |
Year: |
1999 |
Journal: |
Database Release |
Title: |
SWISS-PROT Annotated protein sequence database |
|
|
|
|
•
•
•
•
•
|
Publication |
First Author: |
Mouse Genome Informatics Scientific Curators |
Year: |
2005 |
|
Title: |
Obtaining and Loading Genome Assembly Coordinates from Ensembl Annotations |
|
|
|
|
•
•
•
•
•
|
Publication |
First Author: |
Mouse Genome Informatics |
Year: |
2010 |
Journal: |
Database Release |
Title: |
Protein Ontology Association Load. |
|
|
|
|
•
•
•
•
•
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Publication |
First Author: |
Mouse Genome Informatics Scientific Curators |
Year: |
2005 |
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Title: |
Obtaining and loading genome assembly coordinates from NCBI annotations |
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DO Term |
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