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Entry version 128 (13 Feb 2019)
Sequence version 1 (01 May 2000)
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Protein

N-acetylglucosamine-1-phosphotransferase subunit gamma

Gene

GNPTG

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score:

Annotation score:5 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
-Experimental evidence at protein leveli <p>This indicates the type of evidence that supports the existence of the protein. Note that the ‘protein existence’ evidence does not give information on the accuracy or correctness of the sequence(s) displayed.<p><a href='/help/protein_existence' target='_top'>More...</a></p>

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>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

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Molecular functioni

GO - Biological processi

  • carbohydrate phosphorylation Source: UniProtKB

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>Protein namesi
Recommended name:
N-acetylglucosamine-1-phosphotransferase subunit gamma
Alternative name(s):
GlcNAc-1-phosphotransferase subunit gamma
UDP-N-acetylglucosamine-1-phosphotransferase subunit gamma
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: ‘Name’, ‘Synonyms’, ‘Ordered locus names’ and ‘ORF names’.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi
Name:GNPTG
Synonyms:C16orf27, GNPTAG
ORF Names:CAB56184, LP2537
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the ‘taxonomic identifier’ or ‘taxid’.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes_manual">proteome</a> can consist of several components. <br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome 16

Organism-specific databases

Eukaryotic Pathogen Database Resources

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EuPathDBi
HostDB:ENSG00000090581.9

Human Gene Nomenclature Database

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HGNCi
HGNC:23026 GNPTG

Online Mendelian Inheritance in Man (OMIM)

More...
MIMi
607838 gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_Q9UJJ9

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywords - Cellular componenti

Golgi apparatus, Secreted

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

<p>This subsection of the ‘Pathology and Biotech’ section provides information on the disease(s) associated with genetic variations in a given protein. The information is extracted from the scientific literature and diseases that are also described in the <a href="http://www.ncbi.nlm.nih.gov/sites/entrez?db=omim">OMIM</a> database are represented with a <a href="http://www.uniprot.org/diseases">controlled vocabulary</a> in the following way:<p><a href='/help/involvement_in_disease' target='_top'>More...</a></p>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:252605
Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_077164106G → S in MLIIIC; decreased localization to Golgi apparatus. 3 PublicationsCorresponds to variant dbSNP:rs137852885EnsemblClinVar.1
Natural variantiVAR_070815115Missing in MLIIIC. 2 Publications1
Natural variantiVAR_077165126G → S in MLIIIC; loss of localization to Golgi apparatus. 1 PublicationCorresponds to variant dbSNP:rs775359476Ensembl.1
Natural variantiVAR_070816142C → Y in MLIIIC; decreased localization to Golgi apparatus. 2 Publications1
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, Mucolipidosis

Organism-specific databases

DisGeNET

More...
DisGeNETi
84572

GeneReviews a resource of expert-authored, peer-reviewed disease descriptions.

More...
GeneReviewsi
GNPTG

MalaCards human disease database

More...
MalaCardsi
GNPTG
MIMi252605 phenotype

Open Targets

More...
OpenTargetsi
ENSG00000090581

Orphanet; a database dedicated to information on rare diseases and orphan drugs

More...
Orphaneti
423470 Mucolipidosis type III gamma

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...
PharmGKBi
PA134990433

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
GNPTG

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘PTM / Processing’ section denotes the presence of an N-terminal signal peptide.<p><a href='/help/signal' target='_top'>More...</a></p>Signal peptidei1 – 24Sequence analysisAdd BLAST24
<p>This subsection of the ‘PTM / Processing’ section describes the extent of a polypeptide chain in the mature protein following processing.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_000001957725 – 305N-acetylglucosamine-1-phosphotransferase subunit gammaAdd BLAST281

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/ptm_processing_section">PTM / Processing</a> section specifies the position and type of each covalently attached glycan group (mono-, di-, or polysaccharide).<p><a href='/help/carbohyd' target='_top'>More...</a></p>Glycosylationi88N-linked (GlcNAc...) asparagineBy similarity1
Glycosylationi115N-linked (GlcNAc...) asparagine1 Publication1
<p>This subsection of the PTM / Processing":/help/ptm_processing_section section describes the positions of cysteine residues participating in disulfide bonds.<p><a href='/help/disulfid' target='_top'>More...</a></p>Disulfide bondi245InterchainBy similarity

<p>This subsection of the <a href="http://www.uniprot.org/help/ptm_processing_section">PTM/processing</a> section describes post-translational modifications (PTMs). This subsection <strong>complements</strong> the information provided at the sequence level or describes modifications for which <strong>position-specific data is not yet available</strong>.<p><a href='/help/post-translational_modification' target='_top'>More...</a></p>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, Glycoprotein

Proteomic databases

Encyclopedia of Proteome Dynamics

More...
EPDi
Q9UJJ9

jPOST - Japan Proteome Standard Repository/Database

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jPOSTi
Q9UJJ9

MaxQB - The MaxQuant DataBase

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MaxQBi
Q9UJJ9

PaxDb, a database of protein abundance averages across all three domains of life

More...
PaxDbi
Q9UJJ9

PeptideAtlas

More...
PeptideAtlasi
Q9UJJ9

PRoteomics IDEntifications database

More...
PRIDEi
Q9UJJ9

ProteomicsDB human proteome resource

More...
ProteomicsDBi
84628

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...
iPTMneti
Q9UJJ9

Comprehensive resource for the study of protein post-translational modifications (PTMs) in human, mouse and rat.

More...
PhosphoSitePlusi
Q9UJJ9

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

<p>This subsection of the ‘Expression’ section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms. By default, the information is derived from experiments at the mRNA level, unless specified ‘at protein level’. <br></br>Examples: <a href="http://www.uniprot.org/uniprot/P92958#expression">P92958</a>, <a href="http://www.uniprot.org/uniprot/Q8TDN4#expression">Q8TDN4</a>, <a href="http://www.uniprot.org/uniprot/O14734#expression">O14734</a><p><a href='/help/tissue_specificity' target='_top'>More...</a></p>Tissue specificityi

Widely expressed.1 Publication

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...
Bgeei
ENSG00000090581 Expressed in 197 organ(s), highest expression level in left adrenal gland

ExpressionAtlas, Differential and Baseline Expression

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ExpressionAtlasi
Q9UJJ9 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...
Genevisiblei
Q9UJJ9 HS

Organism-specific databases

Human Protein Atlas

More...
HPAi
HPA004055

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

<p>This subsection of the <a href="http://www.uniprot.org/help/interaction_section">'Interaction'</a> section provides information about the protein quaternary structure and interaction(s) with other proteins or protein complexes (with the exception of physiological receptor-ligand interactions which are annotated in the <a href="http://www.uniprot.org/help/function_section">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>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-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

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BioGridi
124144, 20 interactors

Protein interaction database and analysis system

More...
IntActi
Q9UJJ9, 10 interactors

Molecular INTeraction database

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MINTi
Q9UJJ9

STRING: functional protein association networks

More...
STRINGi
9606.ENSP00000204679

<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei

3D structure databases

Protein Model Portal of the PSI-Nature Structural Biology Knowledgebase

More...
ProteinModelPortali
Q9UJJ9

Database of comparative protein structure models

More...
ModBasei
Search...

MobiDB: a database of protein disorder and mobility annotations

More...
MobiDBi
Search...

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/family_and_domains_section">Family and Domains</a> section describes the position and type of a domain, which is defined as a specific combination of secondary structures organized into a characteristic three-dimensional structure or fold.<p><a href='/help/domain' target='_top'>More...</a></p>Domaini69 – 126PRKCSHAdd BLAST58

Keywords - Domaini

Signal

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...
eggNOGi
KOG2397 Eukaryota
ENOG410XPE3 LUCA

Ensembl GeneTree

More...
GeneTreei
ENSGT00510000048359

The HOVERGEN Database of Homologous Vertebrate Genes

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HOVERGENi
HBG054262

InParanoid: Eukaryotic Ortholog Groups

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InParanoidi
Q9UJJ9

KEGG Orthology (KO)

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KOi
K10087

Identification of Orthologs from Complete Genome Data

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OMAi
RLQPKRD

Database of Orthologous Groups

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OrthoDBi
632472at2759

Database for complete collections of gene phylogenies

More...
PhylomeDBi
Q9UJJ9

TreeFam database of animal gene trees

More...
TreeFami
TF329550

Family and domain databases

Gene3D Structural and Functional Annotation of Protein Families

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Gene3Di
2.70.130.10, 1 hit

Integrated resource of protein families, domains and functional sites

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InterProi
View protein in InterPro
IPR010506 DMAP1-bd
IPR039792 GNPTG
IPR039794 Gtb1-like
IPR009011 Man6P_isomerase_rcpt-bd_dom_sf
IPR036607 PRKCSH

The PANTHER Classification System

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PANTHERi
PTHR12630 PTHR12630, 1 hit
PTHR12630:SF6 PTHR12630:SF6, 1 hit

Pfam protein domain database

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Pfami
View protein in Pfam
PF13015 PRKCSH_1, 1 hit

Simple Modular Architecture Research Tool; a protein domain database

More...
SMARTi
View protein in SMART
SM01137 DMAP_binding, 1 hit

<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence_length">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>.<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequence (1+)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>Sequence statusi: Complete.

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> displayed by default in the entry is in its mature form or if it represents the precursor.<p><a href='/help/sequence_processing' target='_top'>More...</a></p>Sequence processingi: The displayed sequence is further processed into a mature form.

This entry has 1 described isoform and 3 potential isoforms that are computationally mapped.Show allAlign All

Q9UJJ9-1 [UniParc]FASTAAdd to basket
« Hide
        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
Length:305
Mass (Da):33,974
Last modified:May 1, 2000 - v1
<p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> Checksum:i7774BBC0911DA1C2
GO

<p>In eukaryotic reference proteomes, unreviewed entries that are likely to belong to the same gene are computationally mapped, based on gene identifiers from Ensembl, EnsemblGenomes and model organism databases.<p><a href='/help/gene_centric_isoform_mapping' target='_top'>More...</a></p>Computationally mapped potential isoform sequencesi

There are 3 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
H0YEA7H0YEA7_HUMAN
N-acetylglucosamine-1-phosphotransf...
GNPTG
184Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
E9PQQ5E9PQQ5_HUMAN
N-acetylglucosamine-1-phosphotransf...
GNPTG
76Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
A0A087WWA2A0A087WWA2_HUMAN
N-acetylglucosamine-1-phosphotransf...
GNPTG
61Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>

<p>This subsection of the ‘Sequence’ section reports difference(s) between the protein sequence shown in the UniProtKB entry and other available protein sequences derived from the same gene.<p><a href='/help/sequence_caution' target='_top'>More...</a></p>Sequence cautioni

The sequence AAP34456 differs from that shown. Reason: Erroneous initiation.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section reports difference(s) between the canonical sequence (displayed by default in the entry) and the different sequence submissions merged in the entry. These various submissions may originate from different sequencing projects, different types of experiments, or different biological samples. Sequence conflicts are usually of unknown origin.<p><a href='/help/conflict' target='_top'>More...</a></p>Sequence conflicti223Missing in AAH14592 (PubMed:15489334).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_0732225L → LARL Rare variant; found in individuals suffering from stuttering; unknown pathological significance. 1 Publication1
Natural variantiVAR_07322325A → E Rare variant; found in individuals suffering from stuttering; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs137853826EnsemblClinVar.1
Natural variantiVAR_077164106G → S in MLIIIC; decreased localization to Golgi apparatus. 3 PublicationsCorresponds to variant dbSNP:rs137852885EnsemblClinVar.1
Natural variantiVAR_070815115Missing in MLIIIC. 2 Publications1
Natural variantiVAR_077165126G → S in MLIIIC; loss of localization to Golgi apparatus. 1 PublicationCorresponds to variant dbSNP:rs775359476Ensembl.1
Natural variantiVAR_070816142C → Y in MLIIIC; decreased localization to Golgi apparatus. 2 Publications1
Natural variantiVAR_073224230L → V Rare variant; found in individuals suffering from stuttering; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs137853827EnsemblClinVar.1
Natural variantiVAR_077166286T → M Polymorphism; does not affect localization to Golgi apparatus. 2 PublicationsCorresponds to variant dbSNP:rs193302860EnsemblClinVar.1

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

More...
EMBLi

GenBank nucleotide sequence database

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GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...
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.

The Consensus CDS (CCDS) project

More...
CCDSi
CCDS10436.1

Protein sequence database of the Protein Information Resource

More...
PIRi
T45062

NCBI Reference Sequences

More...
RefSeqi
NP_115909.1, NM_032520.4

UniGene gene-oriented nucleotide sequence clusters

More...
UniGenei
Hs.241575

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...
Ensembli
ENST00000204679; ENSP00000204679; ENSG00000090581

Database of genes from NCBI RefSeq genomes

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GeneIDi
84572

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...
KEGGi
hsa:84572

UCSC genome browser

More...
UCSCi
uc002clm.4 human

Keywords - Coding sequence diversityi

Polymorphism

<p>This section provides links to proteins that are similar to the protein sequence(s) described in this entry at different levels of sequence identity thresholds (100%, 90% and 50%) based on their membership in UniProt Reference Clusters (<a href="http://www.uniprot.org/help/uniref">UniRef</a>).<p><a href='/help/similar_proteins_section' target='_top'>More...</a></p>Similar proteinsi

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>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.
CCDSiCCDS10436.1
PIRiT45062
RefSeqiNP_115909.1, NM_032520.4
UniGeneiHs.241575

3D structure databases

ProteinModelPortaliQ9UJJ9
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi124144, 20 interactors
IntActiQ9UJJ9, 10 interactors
MINTiQ9UJJ9
STRINGi9606.ENSP00000204679

PTM databases

iPTMnetiQ9UJJ9
PhosphoSitePlusiQ9UJJ9

Polymorphism and mutation databases

BioMutaiGNPTG

Proteomic databases

EPDiQ9UJJ9
jPOSTiQ9UJJ9
MaxQBiQ9UJJ9
PaxDbiQ9UJJ9
PeptideAtlasiQ9UJJ9
PRIDEiQ9UJJ9
ProteomicsDBi84628

Protocols and materials databases

The DNASU plasmid repository

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DNASUi
84572
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000204679; ENSP00000204679; ENSG00000090581
GeneIDi84572
KEGGihsa:84572
UCSCiuc002clm.4 human

Organism-specific databases

Comparative Toxicogenomics Database

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CTDi
84572
DisGeNETi84572
EuPathDBiHostDB:ENSG00000090581.9

GeneCards: human genes, protein and diseases

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GeneCardsi
GNPTG
GeneReviewsiGNPTG
HGNCiHGNC:23026 GNPTG
HPAiHPA004055
MalaCardsiGNPTG
MIMi252605 phenotype
607838 gene
neXtProtiNX_Q9UJJ9
OpenTargetsiENSG00000090581
Orphaneti423470 Mucolipidosis type III gamma
PharmGKBiPA134990433

GenAtlas: human gene database

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GenAtlasi
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Phylogenomic databases

eggNOGiKOG2397 Eukaryota
ENOG410XPE3 LUCA
GeneTreeiENSGT00510000048359
HOVERGENiHBG054262
InParanoidiQ9UJJ9
KOiK10087
OMAiRLQPKRD
OrthoDBi632472at2759
PhylomeDBiQ9UJJ9
TreeFamiTF329550

Miscellaneous databases

ChiTaRS: a database of human, mouse and fruit fly chimeric transcripts and RNA-sequencing data

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ChiTaRSi
GNPTG human

Database of phenotypes from RNA interference screens in Drosophila and Homo sapiens

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GenomeRNAii
84572

Protein Ontology

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PROi
PR:Q9UJJ9

The Stanford Online Universal Resource for Clones and ESTs

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SOURCEi
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Gene expression databases

BgeeiENSG00000090581 Expressed in 197 organ(s), highest expression level in left adrenal gland
ExpressionAtlasiQ9UJJ9 baseline and differential
GenevisibleiQ9UJJ9 HS

Family and domain databases

Gene3Di2.70.130.10, 1 hit
InterProiView protein in InterPro
IPR010506 DMAP1-bd
IPR039792 GNPTG
IPR039794 Gtb1-like
IPR009011 Man6P_isomerase_rcpt-bd_dom_sf
IPR036607 PRKCSH
PANTHERiPTHR12630 PTHR12630, 1 hit
PTHR12630:SF6 PTHR12630:SF6, 1 hit
PfamiView protein in Pfam
PF13015 PRKCSH_1, 1 hit
SMARTiView protein in SMART
SM01137 DMAP_binding, 1 hit

ProtoNet; Automatic hierarchical classification of proteins

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ProtoNeti
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<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

<p>This subsection of the ‘Entry information’ section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.<p><a href='/help/entry_name' target='_top'>More...</a></p>Entry nameiGNPTG_HUMAN
<p>This subsection of the ‘Entry information’ section provides one or more accession number(s). These are stable identifiers and should be used to cite UniProtKB entries. Upon integration into UniProtKB, each entry is assigned a unique accession number, which is called ‘Primary (citable) accession number’.<p><a href='/help/accession_numbers' target='_top'>More...</a></p>AccessioniPrimary (citable) accession number: Q9UJJ9
Secondary accession number(s): B2R556, Q6XYD7, Q96L13
<p>This subsection of the ‘Entry information’ section shows the date of integration of the entry into UniProtKB, the date of the last sequence update and the date of the last annotation modification (‘Last modified’). The version number for both the entry and the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated 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.
<p>This subsection of the ‘Entry information’ section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny 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.

<p>This section contains any relevant information that doesn’t fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 16
    Human chromosome 16: entries, gene names and cross-references to MIM
  2. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  3. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  4. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
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