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
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.
See also OMIM:252605Feature 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 |
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 |
---|---|---|---|---|
Glycosylationi | 88 | N-linked (GlcNAc...) asparagineBy similarity | 1 | |
Glycosylationi | 115 | N-linked (GlcNAc...) asparagine1 Publication | 1 | |
Disulfide bondi | 245 | InterchainBy similarity |
Post-translational modificationi
Cys-245 mediates the formation of the interchain disulfide bond for formation of the homofimer. Cys-142, Cys-157 and Cys-169 are involved in intramolecular disulfide bonds formation (By similarity).By similarity
Keywords - PTMi
Disulfide bond, GlycoproteinProteomic databases
EPDi | Q9UJJ9 |
jPOSTi | Q9UJJ9 |
MaxQBi | Q9UJJ9 |
PaxDbi | Q9UJJ9 |
PeptideAtlasi | Q9UJJ9 |
PRIDEi | Q9UJJ9 |
ProteomicsDBi | 84628 |
PTM databases
iPTMneti | Q9UJJ9 |
PhosphoSitePlusi | Q9UJJ9 |
Expressioni
Tissue specificityi
Widely expressed.1 Publication
Gene expression databases
Bgeei | ENSG00000090581 Expressed in 197 organ(s), highest expression level in left adrenal gland |
ExpressionAtlasi | Q9UJJ9 baseline and differential |
Genevisiblei | Q9UJJ9 HS |
Organism-specific databases
HPAi | HPA004055 |
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 Publications
GO - Molecular functioni
- protein homodimerization activity Source: UniProtKB
Protein-protein interaction databases
BioGridi | 124144, 20 interactors |
IntActi | Q9UJJ9, 10 interactors |
MINTi | Q9UJJ9 |
STRINGi | 9606.ENSP00000204679 |
Family & Domainsi
Domains and Repeats
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Domaini | 69 – 126 | PRKCSHAdd BLAST | 58 |
Keywords - Domaini
SignalPhylogenomic databases
eggNOGi | KOG2397 Eukaryota ENOG410XPE3 LUCA |
GeneTreei | ENSGT00510000048359 |
HOVERGENi | HBG054262 |
InParanoidi | Q9UJJ9 |
KOi | K10087 |
OMAi | RLQPKRD |
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 |
(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: | ||
E9PQQ5 | E9PQQ5_HUMAN | N-acetylglucosamine-1-phosphotransf... | GNPTG | 76 | Annotation score: | ||
A0A087WWA2 | A0A087WWA2_HUMAN | N-acetylglucosamine-1-phosphotransf... | GNPTG | 61 | 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 |
UniGenei | Hs.241575 |
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 |
UniGenei | Hs.241575 |
3D structure databases
ProteinModelPortali | Q9UJJ9 |
ModBasei | Search... |
MobiDBi | Search... |
Protein-protein interaction databases
BioGridi | 124144, 20 interactors |
IntActi | Q9UJJ9, 10 interactors |
MINTi | Q9UJJ9 |
STRINGi | 9606.ENSP00000204679 |
PTM databases
iPTMneti | Q9UJJ9 |
PhosphoSitePlusi | Q9UJJ9 |
Polymorphism and mutation databases
BioMutai | GNPTG |
Proteomic databases
EPDi | Q9UJJ9 |
jPOSTi | Q9UJJ9 |
MaxQBi | Q9UJJ9 |
PaxDbi | Q9UJJ9 |
PeptideAtlasi | Q9UJJ9 |
PRIDEi | Q9UJJ9 |
ProteomicsDBi | 84628 |
Protocols and materials databases
DNASUi | 84572 |
Structural Biology Knowledgebase | Search... |
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 | HPA004055 |
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 ENOG410XPE3 LUCA |
GeneTreei | ENSGT00510000048359 |
HOVERGENi | HBG054262 |
InParanoidi | Q9UJJ9 |
KOi | K10087 |
OMAi | RLQPKRD |
OrthoDBi | 632472at2759 |
PhylomeDBi | Q9UJJ9 |
TreeFami | TF329550 |
Miscellaneous databases
ChiTaRSi | GNPTG human |
GenomeRNAii | 84572 |
PROi | PR:Q9UJJ9 |
SOURCEi | Search... |
Gene expression databases
Bgeei | ENSG00000090581 Expressed in 197 organ(s), highest expression level in left adrenal gland |
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 |
ProtoNeti | 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 13, 2019 | |
This is version 128 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
Complete proteome, Reference proteomeDocuments
- Human chromosome 16
Human chromosome 16: entries, gene names and cross-references to MIM - MIM cross-references
Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot - Human entries with polymorphisms or disease mutations
List of human entries with polymorphisms or disease mutations - Human polymorphisms and disease mutations
Index of human polymorphisms and disease mutations