UniProtKB - Q9UJJ9 (GNPTG_HUMAN)
Protein
N-acetylglucosamine-1-phosphotransferase subunit gamma
Gene
GNPTG
Organism
Homo sapiens (Human)
Status
Functioni
Non-catalytic subunit of the N-acetylglucosamine-1-phosphotransferase complex, an enzyme that catalyzes the formation of mannose 6-phosphate (M6P) markers on high mannose type oligosaccharides in the Golgi apparatus. Binds and presents the high mannose glycans of the acceptor to the catalytic alpha and beta subunits (GNPTAB). Enhances the rate of N-acetylglucosamine-1-phosphate transfer to the oligosaccharides of acid hydrolase acceptors.2 Publications
Caution
The MLIIIC 'Tyr-142' variant is reported as a 'Val-142' variant due to a typo.1 Publication
GO - Molecular functioni
- protein homodimerization activity Source: UniProtKB
- UDP-N-acetylglucosamine-lysosomal-enzyme N-acetylglucosaminephosphotransferase activity Source: Ensembl
GO - Biological processi
- carbohydrate phosphorylation Source: UniProtKB
Enzyme and pathway databases
PathwayCommonsi | Q9UJJ9 |
Names & Taxonomyi
Protein namesi | Recommended name: N-acetylglucosamine-1-phosphotransferase subunit gammaAlternative name(s): GlcNAc-1-phosphotransferase subunit gamma UDP-N-acetylglucosamine-1-phosphotransferase subunit gamma |
Gene namesi | Name:GNPTG Synonyms:C16orf27, GNPTAG ORF Names:CAB56184, LP2537 |
Organismi | Homo sapiens (Human) |
Taxonomic identifieri | 9606 [NCBI] |
Taxonomic lineagei | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Proteomesi |
|
Organism-specific databases
EuPathDBi | HostDB:ENSG00000090581.9 |
HGNCi | HGNC:23026, GNPTG |
MIMi | 607838, gene |
neXtProti | NX_Q9UJJ9 |
Subcellular locationi
Golgi apparatus
- Golgi apparatus 3 Publications
Extracellular region or secreted
- Secreted 1 Publication
Extracellular region or secreted
- extracellular exosome Source: UniProtKB
Golgi apparatus
- Golgi apparatus Source: UniProtKB
- Golgi membrane Source: Ensembl
Keywords - Cellular componenti
Golgi apparatus, SecretedPathology & Biotechi
Involvement in diseasei
Mucolipidosis type III complementation group C (MLIIIC)7 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionAutosomal recessive disease of lysosomal hydrolase trafficking. Unlike the related diseases, mucolipidosis II and IIIA, the enzyme affected in mucolipidosis IIIC (GlcNAc-phosphotransferase) retains full transferase activity on synthetic substrates but lacks activity on lysosomal hydrolases. Typical clinical findings include stiffness of the hands and shoulders, claw-hand deformity, scoliosis, short stature, coarse facies, and mild mental retardation. Radiographically, severe dysostosis multiplex of the hip is characteristic and frequently disabling. The clinical diagnosis can be confirmed by finding elevated serum lysosomal enzyme levels and/or decreased lysosomal enzyme levels in cultured fibroblasts.
Related information in OMIMFeature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_077164 | 106 | G → S in MLIIIC; decreased localization to Golgi apparatus. 3 PublicationsCorresponds to variant dbSNP:rs137852885EnsemblClinVar. | 1 | |
Natural variantiVAR_070815 | 115 | Missing in MLIIIC. 2 Publications | 1 | |
Natural variantiVAR_077165 | 126 | G → S in MLIIIC; loss of localization to Golgi apparatus. 1 PublicationCorresponds to variant dbSNP:rs775359476Ensembl. | 1 | |
Natural variantiVAR_070816 | 142 | C → Y in MLIIIC; decreased localization to Golgi apparatus. 2 Publications | 1 |
Defects in GNPTG have been suggested to play a role in susceptibility to persistent stuttering. Stuttering is a common speech disorder characterized by repetitions, prolongations, and interruptions in the flow of speech.1 Publication
Keywords - Diseasei
Disease mutation, MucolipidosisOrganism-specific databases
DisGeNETi | 84572 |
GeneReviewsi | GNPTG |
MalaCardsi | GNPTG |
MIMi | 252605, phenotype |
OpenTargetsi | ENSG00000090581 |
Orphaneti | 423470, Mucolipidosis type III gamma |
PharmGKBi | PA134990433 |
Miscellaneous databases
Pharosi | Q9UJJ9, Tbio |
Polymorphism and mutation databases
BioMutai | GNPTG |
PTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Signal peptidei | 1 – 24 | Sequence analysisAdd BLAST | 24 | |
ChainiPRO_0000019577 | 25 – 305 | N-acetylglucosamine-1-phosphotransferase subunit gammaAdd BLAST | 281 |
Amino acid modifications
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Disulfide bondi | 71 ↔ 84 | PROSITE-ProRule annotation | ||
Glycosylationi | 88 | N-linked (GlcNAc...) asparagineBy similarity | 1 | |
Glycosylationi | 115 | N-linked (GlcNAc...) asparagine1 Publication | 1 | |
Disulfide bondi | 129 ↔ 157 | PROSITE-ProRule annotation | ||
Disulfide bondi | 142 ↔ 169 | PROSITE-ProRule annotation | ||
Disulfide bondi | 245 | InterchainBy similarity |
Post-translational modificationi
Cys-245 mediates the formation of the interchain disulfide bond for formation of the homodimer. Cys-142, Cys-157 and Cys-169 are involved in intramolecular disulfide bonds formation (By similarity).By similarity
Keywords - PTMi
Disulfide bond, GlycoproteinProteomic databases
CPTACi | CPTAC-2710 |
EPDi | Q9UJJ9 |
jPOSTi | Q9UJJ9 |
MassIVEi | Q9UJJ9 |
MaxQBi | Q9UJJ9 |
PaxDbi | Q9UJJ9 |
PeptideAtlasi | Q9UJJ9 |
PRIDEi | Q9UJJ9 |
ProteomicsDBi | 84628 |
PTM databases
GlyGeni | Q9UJJ9, 4 sites, 3 O-linked glycans (2 sites) |
iPTMneti | Q9UJJ9 |
PhosphoSitePlusi | Q9UJJ9 |
Expressioni
Tissue specificityi
Widely expressed.1 Publication
Gene expression databases
Bgeei | ENSG00000090581, Expressed in left adrenal gland and 213 other tissues |
ExpressionAtlasi | Q9UJJ9, baseline and differential |
Genevisiblei | Q9UJJ9, HS |
Organism-specific databases
HPAi | ENSG00000090581, Low tissue specificity |
Interactioni
Subunit structurei
Homodimer; disulfide-linked. Hexamer of two alpha (GNPTAB), two beta (GNPTAB) and two gamma (GNPTG) subunits; disulfide-linked. The alpha and/or the beta subunits of the enzyme constitute the catalytic subunits.
2 PublicationsGO - Molecular functioni
- protein homodimerization activity Source: UniProtKB
Protein-protein interaction databases
BioGRIDi | 124144, 21 interactors |
IntActi | Q9UJJ9, 14 interactors |
MINTi | Q9UJJ9 |
STRINGi | 9606.ENSP00000204679 |
Miscellaneous databases
RNActi | Q9UJJ9, protein |
Family & Domainsi
Domains and Repeats
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Domaini | 69 – 171 | MRHPROSITE-ProRule annotationAdd BLAST | 103 | |
Domaini | 176 – 279 | DMAP1-bindingPROSITE-ProRule annotationAdd BLAST | 104 |
Keywords - Domaini
SignalPhylogenomic databases
eggNOGi | KOG2397, Eukaryota |
GeneTreei | ENSGT00510000048359 |
HOGENOMi | CLU_075705_0_0_1 |
InParanoidi | Q9UJJ9 |
OMAi | LCPFHNV |
OrthoDBi | 632472at2759 |
PhylomeDBi | Q9UJJ9 |
TreeFami | TF329550 |
Family and domain databases
Gene3Di | 2.70.130.10, 1 hit |
InterProi | View protein in InterPro IPR010506, DMAP1-bd IPR039792, GNPTG IPR039794, Gtb1-like IPR009011, Man6P_isomerase_rcpt-bd_dom_sf IPR036607, PRKCSH |
PANTHERi | PTHR12630, PTHR12630, 1 hit PTHR12630:SF6, PTHR12630:SF6, 1 hit |
Pfami | View protein in Pfam PF13015, PRKCSH_1, 1 hit |
SMARTi | View protein in SMART SM01137, DMAP_binding, 1 hit |
PROSITEi | View protein in PROSITE PS51912, DMAP1_BIND, 1 hit PS51914, MRH, 1 hit |
(1+)i Sequence
Sequence statusi: Complete.
: The displayed sequence is further processed into a mature form. Sequence processingi
This entry has 1 described isoform and 3 potential isoforms that are computationally mapped.Show allAlign All
Q9UJJ9-1 [UniParc]FASTAAdd to basket
10 20 30 40 50
MAAGLARLLL LLGLSAGGPA PAGAAKMKVV EEPNAFGVNN PFLPQASRLQ
60 70 80 90 100
AKRDPSPVSG PVHLFRLSGK CFSLVESTYK YEFCPFHNVT QHEQTFRWNA
110 120 130 140 150
YSGILGIWHE WEIANNTFTG MWMRDGDACR SRSRQSKVEL ACGKSNRLAH
160 170 180 190 200
VSEPSTCVYA LTFETPLVCH PHALLVYPTL PEALQRQWDQ VEQDLADELI
210 220 230 240 250
TPQGHEKLLR TLFEDAGYLK TPEENEPTQL EGGPDSLGFE TLENCRKAHK
260 270 280 290 300
ELSKEIKRLK GLLTQHGIPY TRPTETSNLE HLGHETPRAK SPEQLRGDPG
LRGSL
Computationally mapped potential isoform sequencesi
There are 3 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basketH0YEA7 | H0YEA7_HUMAN | N-acetylglucosamine-1-phosphotransf... | GNPTG | 184 | Annotation score: | ||
A0A087WWA2 | A0A087WWA2_HUMAN | N-acetylglucosamine-1-phosphotransf... | GNPTG | 61 | Annotation score: | ||
E9PQQ5 | E9PQQ5_HUMAN | N-acetylglucosamine-1-phosphotransf... | GNPTG | 76 | Annotation score: |
Sequence cautioni
The sequence AAP34456 differs from that shown. Reason: Erroneous initiation.Curated
Experimental Info
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Sequence conflicti | 223 | Missing in AAH14592 (PubMed:15489334).Curated | 1 |
Natural variant
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_073222 | 5 | L → LARL Rare variant; found in individuals suffering from stuttering; unknown pathological significance. 1 Publication | 1 | |
Natural variantiVAR_073223 | 25 | A → E Rare variant; found in individuals suffering from stuttering; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs137853826EnsemblClinVar. | 1 | |
Natural variantiVAR_077164 | 106 | G → S in MLIIIC; decreased localization to Golgi apparatus. 3 PublicationsCorresponds to variant dbSNP:rs137852885EnsemblClinVar. | 1 | |
Natural variantiVAR_070815 | 115 | Missing in MLIIIC. 2 Publications | 1 | |
Natural variantiVAR_077165 | 126 | G → S in MLIIIC; loss of localization to Golgi apparatus. 1 PublicationCorresponds to variant dbSNP:rs775359476Ensembl. | 1 | |
Natural variantiVAR_070816 | 142 | C → Y in MLIIIC; decreased localization to Golgi apparatus. 2 Publications | 1 | |
Natural variantiVAR_073224 | 230 | L → V Rare variant; found in individuals suffering from stuttering; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs137853827EnsemblClinVar. | 1 | |
Natural variantiVAR_077166 | 286 | T → M Polymorphism; does not affect localization to Golgi apparatus. 2 PublicationsCorresponds to variant dbSNP:rs193302860EnsemblClinVar. | 1 |
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | AF302786 mRNA Translation: AAG27706.1 AL031709 Genomic DNA Translation: CAB56184.1 AK312067 mRNA Translation: BAG35003.1 CH471112 Genomic DNA Translation: EAW85668.1 BC014592 mRNA Translation: AAH14592.1 AY203933 mRNA Translation: AAP34456.1 Different initiation. |
CCDSi | CCDS10436.1 |
PIRi | T45062 |
RefSeqi | NP_115909.1, NM_032520.4 |
Genome annotation databases
Ensembli | ENST00000204679; ENSP00000204679; ENSG00000090581 |
GeneIDi | 84572 |
KEGGi | hsa:84572 |
UCSCi | uc002clm.4, human |
Keywords - Coding sequence diversityi
PolymorphismSimilar proteinsi
Cross-referencesi
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | AF302786 mRNA Translation: AAG27706.1 AL031709 Genomic DNA Translation: CAB56184.1 AK312067 mRNA Translation: BAG35003.1 CH471112 Genomic DNA Translation: EAW85668.1 BC014592 mRNA Translation: AAH14592.1 AY203933 mRNA Translation: AAP34456.1 Different initiation. |
CCDSi | CCDS10436.1 |
PIRi | T45062 |
RefSeqi | NP_115909.1, NM_032520.4 |
3D structure databases
ModBasei | Search... |
SWISS-MODEL-Workspacei | Submit a new modelling project... |
Protein-protein interaction databases
BioGRIDi | 124144, 21 interactors |
IntActi | Q9UJJ9, 14 interactors |
MINTi | Q9UJJ9 |
STRINGi | 9606.ENSP00000204679 |
PTM databases
GlyGeni | Q9UJJ9, 4 sites, 3 O-linked glycans (2 sites) |
iPTMneti | Q9UJJ9 |
PhosphoSitePlusi | Q9UJJ9 |
Polymorphism and mutation databases
BioMutai | GNPTG |
Proteomic databases
CPTACi | CPTAC-2710 |
EPDi | Q9UJJ9 |
jPOSTi | Q9UJJ9 |
MassIVEi | Q9UJJ9 |
MaxQBi | Q9UJJ9 |
PaxDbi | Q9UJJ9 |
PeptideAtlasi | Q9UJJ9 |
PRIDEi | Q9UJJ9 |
ProteomicsDBi | 84628 |
Protocols and materials databases
Antibodypediai | 1360, 98 antibodies |
DNASUi | 84572 |
Genome annotation databases
Ensembli | ENST00000204679; ENSP00000204679; ENSG00000090581 |
GeneIDi | 84572 |
KEGGi | hsa:84572 |
UCSCi | uc002clm.4, human |
Organism-specific databases
CTDi | 84572 |
DisGeNETi | 84572 |
EuPathDBi | HostDB:ENSG00000090581.9 |
GeneCardsi | GNPTG |
GeneReviewsi | GNPTG |
HGNCi | HGNC:23026, GNPTG |
HPAi | ENSG00000090581, Low tissue specificity |
MalaCardsi | GNPTG |
MIMi | 252605, phenotype 607838, gene |
neXtProti | NX_Q9UJJ9 |
OpenTargetsi | ENSG00000090581 |
Orphaneti | 423470, Mucolipidosis type III gamma |
PharmGKBi | PA134990433 |
GenAtlasi | Search... |
Phylogenomic databases
eggNOGi | KOG2397, Eukaryota |
GeneTreei | ENSGT00510000048359 |
HOGENOMi | CLU_075705_0_0_1 |
InParanoidi | Q9UJJ9 |
OMAi | LCPFHNV |
OrthoDBi | 632472at2759 |
PhylomeDBi | Q9UJJ9 |
TreeFami | TF329550 |
Enzyme and pathway databases
PathwayCommonsi | Q9UJJ9 |
Miscellaneous databases
BioGRID-ORCSi | 84572, 6 hits in 841 CRISPR screens |
ChiTaRSi | GNPTG, human |
GenomeRNAii | 84572 |
Pharosi | Q9UJJ9, Tbio |
PROi | PR:Q9UJJ9 |
RNActi | Q9UJJ9, protein |
SOURCEi | Search... |
Gene expression databases
Bgeei | ENSG00000090581, Expressed in left adrenal gland and 213 other tissues |
ExpressionAtlasi | Q9UJJ9, baseline and differential |
Genevisiblei | Q9UJJ9, HS |
Family and domain databases
Gene3Di | 2.70.130.10, 1 hit |
InterProi | View protein in InterPro IPR010506, DMAP1-bd IPR039792, GNPTG IPR039794, Gtb1-like IPR009011, Man6P_isomerase_rcpt-bd_dom_sf IPR036607, PRKCSH |
PANTHERi | PTHR12630, PTHR12630, 1 hit PTHR12630:SF6, PTHR12630:SF6, 1 hit |
Pfami | View protein in Pfam PF13015, PRKCSH_1, 1 hit |
SMARTi | View protein in SMART SM01137, DMAP_binding, 1 hit |
PROSITEi | View protein in PROSITE PS51912, DMAP1_BIND, 1 hit PS51914, MRH, 1 hit |
ProtoNeti | Search... |
MobiDBi | Search... |
Entry informationi
Entry namei | GNPTG_HUMAN | |
Accessioni | Q9UJJ9Primary (citable) accession number: Q9UJJ9 Secondary accession number(s): B2R556, Q6XYD7, Q96L13 | |
Entry historyi | Integrated into UniProtKB/Swiss-Prot: | July 19, 2005 |
Last sequence update: | May 1, 2000 | |
Last modified: | December 2, 2020 | |
This is version 137 of the entry and version 1 of the sequence. See complete history. | ||
Entry statusi | Reviewed (UniProtKB/Swiss-Prot) | |
Annotation program | Chordata Protein Annotation Program | |
Disclaimer | Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care. |
Miscellaneousi
Keywords - Technical termi
Reference proteomeDocuments
- Human polymorphisms and disease mutations
Index of human polymorphisms and disease mutations - MIM cross-references
Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot - Human chromosome 16
Human chromosome 16: entries, gene names and cross-references to MIM - Human entries with polymorphisms or disease mutations
List of human entries with polymorphisms or disease mutations