UniProtKB - Q9UJJ9 (GNPTG_HUMAN)
N-acetylglucosamine-1-phosphotransferase subunit gamma
GNPTG
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 PublicationsCaution
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
BRENDAi | 2.7.8.17, 2681 |
PathwayCommonsi | Q9UJJ9 |
SignaLinki | 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
HGNCi | HGNC:23026, GNPTG |
MIMi | 607838, gene |
neXtProti | NX_Q9UJJ9 |
VEuPathDBi | HostDB:ENSG00000090581 |
Subcellular locationi
Extracellular region or secreted
- Secreted 1 Publication
Golgi apparatus
- Golgi apparatus 3 Publications
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
Feature 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:rs775359476EnsemblClinVar. | 1 | |
Natural variantiVAR_070816 | 142 | C → Y in MLIIIC; decreased localization to Golgi apparatus. 2 Publications | 1 |
Keywords - Diseasei
Disease variant, 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 |
Genetic variation 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
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
GlyConnecti | 2942, 3 N-Linked glycans (1 site) |
GlyGeni | Q9UJJ9, 4 sites, 4 N-linked glycans (1 site), 3 O-linked glycans (2 sites) |
iPTMneti | Q9UJJ9 |
PhosphoSitePlusi | Q9UJJ9 |
Expressioni
Tissue specificityi
Gene expression databases
Bgeei | ENSG00000090581, Expressed in left adrenal gland and 214 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 PublicationsBinary interactionsi
Q9UJJ9
With | #Exp. | IntAct |
---|---|---|
GNPTAB [Q3T906] | 5 | EBI-372067,EBI-1104907 |
GO - Molecular functioni
- protein homodimerization activity Source: UniProtKB
Protein-protein interaction databases
BioGRIDi | 124144, 33 interactors |
IntActi | Q9UJJ9, 14 interactors |
MINTi | Q9UJJ9 |
STRINGi | 9606.ENSP00000204679 |
Miscellaneous databases
RNActi | Q9UJJ9, protein |
Structurei
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 |
Region
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Regioni | 267 – 305 | DisorderedSequence analysisAdd BLAST | 39 |
Compositional bias
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Compositional biasi | 278 – 292 | Basic and acidic residuesSequence analysisAdd BLAST | 15 |
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 IPR044865, MRH_dom 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 |
SUPFAMi | SSF50911, SSF50911, 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 5 potential isoforms that are computationally mapped.Show allAlign All
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 5 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basketH0YEA7 | H0YEA7_HUMAN | N-acetylglucosamine-1-phosphotransf... | GNPTG | 333 | Annotation score: | ||
A0A804HI41 | A0A804HI41_HUMAN | N-acetylglucosamine-1-phosphotransf... | GNPTG | 321 | Annotation score: | ||
A0A087WWA2 | A0A087WWA2_HUMAN | N-acetylglucosamine-1-phosphotransf... | GNPTG | 61 | Annotation score: | ||
A0A804HIZ1 | A0A804HIZ1_HUMAN | N-acetylglucosamine-1-phosphotransf... | GNPTG | 70 | Annotation score: | ||
E9PQQ5 | E9PQQ5_HUMAN | N-acetylglucosamine-1-phosphotransf... | GNPTG | 76 | Annotation score: |
Sequence cautioni
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:rs775359476EnsemblClinVar. | 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 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 |
MANE-Selecti | ENST00000204679.9; ENSP00000204679.4; NM_032520.5; NP_115909.1 |
UCSCi | uc002clm.4, human |
Similar 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, 33 interactors |
IntActi | Q9UJJ9, 14 interactors |
MINTi | Q9UJJ9 |
STRINGi | 9606.ENSP00000204679 |
PTM databases
GlyConnecti | 2942, 3 N-Linked glycans (1 site) |
GlyGeni | Q9UJJ9, 4 sites, 4 N-linked glycans (1 site), 3 O-linked glycans (2 sites) |
iPTMneti | Q9UJJ9 |
PhosphoSitePlusi | Q9UJJ9 |
Genetic variation 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, 100 antibodies from 15 providers |
DNASUi | 84572 |
Genome annotation databases
Ensembli | ENST00000204679; ENSP00000204679; ENSG00000090581 |
GeneIDi | 84572 |
KEGGi | hsa:84572 |
MANE-Selecti | ENST00000204679.9; ENSP00000204679.4; NM_032520.5; NP_115909.1 |
UCSCi | uc002clm.4, human |
Organism-specific databases
CTDi | 84572 |
DisGeNETi | 84572 |
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 |
VEuPathDBi | HostDB:ENSG00000090581 |
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
BRENDAi | 2.7.8.17, 2681 |
PathwayCommonsi | Q9UJJ9 |
SignaLinki | Q9UJJ9 |
Miscellaneous databases
BioGRID-ORCSi | 84572, 13 hits in 1043 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 214 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 IPR044865, MRH_dom 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 |
SUPFAMi | SSF50911, SSF50911, 1 hit |
PROSITEi | View protein in PROSITE PS51912, DMAP1_BIND, 1 hit PS51914, MRH, 1 hit |
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: | February 23, 2022 | |
This is version 142 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 chromosome 16
Human chromosome 16: entries, gene names and cross-references to MIM - Human entries with genetic variants
List of human entries with genetic variants - Human variants curated from literature reports
Index of human variants curated from literature reports - MIM cross-references
Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot