Skip Header

You are using a version of browser that may not display all the features of this website. Please consider upgrading your browser.

UniProtKB - Q9UJJ9 (GNPTG_HUMAN)

Entry version 137 (02 Dec 2020)
Sequence version 1 (01 May 2000)
Previous versions | rss
Add a publicationFeedback
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

Complete GO annotation on QuickGO ...

GO - Biological processi

Complete GO annotation on QuickGO ...

Enzyme and pathway databases

Pathway Commons web resource for biological pathway data

More...PathwayCommonsi		Q9UJJ9

<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%5Fand%5Ftaxonomy%5Fsection">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%5Fand%5Ftaxonomy%5Fsection">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%5Fand%5Ftaxonomy%5Fsection">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%5Fand%5Ftaxonomy%5Fsection">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%5Fand%5Ftaxonomy%5Fsection">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 lineageiEukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">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%5Fmanual">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 and Host Database Resources

More...EuPathDBi		HostDB:ENSG00000090581.9

Human Gene Nomenclature Database

More...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 & Seán O’Donoghue; 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.
Related information in OMIM
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

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...Pharosi		Q9UJJ9, Tbio

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 or proteolytic cleavage.<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 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 bondi71 ↔ 84PROSITE-ProRule annotation
<p>This subsection of the <a href="http://www.uniprot.org/help/ptm%5Fprocessing%5Fsection">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
Disulfide bondi129 ↔ 157PROSITE-ProRule annotation
Disulfide bondi142 ↔ 169PROSITE-ProRule annotation
Disulfide bondi245InterchainBy similarity

<p>This subsection of the <a href="http://www.uniprot.org/help/ptm%5Fprocessing%5Fsection">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 homodimer. 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

The CPTAC Assay portal

More...CPTACi		CPTAC-2710

Encyclopedia of Proteome Dynamics

More...EPDi		Q9UJJ9

jPOST - Japan Proteome Standard Repository/Database

More...jPOSTi		Q9UJJ9

MassIVE - Mass Spectrometry Interactive Virtual Environment

More...MassIVEi		Q9UJJ9

MaxQB - The MaxQuant DataBase

More...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: a multi-organism proteome resource

More...ProteomicsDBi		84628

PTM databases

GlyGen: Computational and Informatics Resources for Glycoscience

More...GlyGeni		Q9UJJ9, 4 sites, 3 O-linked glycans (2 sites)

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 left adrenal gland and 213 other tissues

ExpressionAtlas, Differential and Baseline Expression

More...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		ENSG00000090581, Low tissue specificity

<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%5Fsection">'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%5Fsection">'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

Complete GO annotation on QuickGO ...

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGRID)

More...BioGRIDi		124144, 21 interactors

Protein interaction database and analysis system

More...IntActi		Q9UJJ9, 14 interactors

Molecular INTeraction database

More...MINTi		Q9UJJ9

STRING: functional protein association networks

More...STRINGi		9606.ENSP00000204679

Miscellaneous databases

RNAct, Protein-RNA interaction predictions for model organisms.

More...RNActi		Q9UJJ9, protein

<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%5Fand%5Fdomains%5Fsection">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 – 171MRHPROSITE-ProRule annotationAdd BLAST103
Domaini176 – 279DMAP1-bindingPROSITE-ProRule annotationAdd BLAST104

Keywords - Domaini

Signal

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...eggNOGi		KOG2397, Eukaryota

Ensembl GeneTree

More...GeneTreei		ENSGT00510000048359

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...HOGENOMi		CLU_075705_0_0_1

InParanoid: Eukaryotic Ortholog Groups

More...InParanoidi		Q9UJJ9

Identification of Orthologs from Complete Genome Data

More...OMAi		LCPFHNV

Database of Orthologous Groups

More...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

More...Gene3Di		2.70.130.10, 1 hit

Integrated resource of protein families, domains and functional sites

More...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

More...PANTHERi		PTHR12630, PTHR12630, 1 hit
PTHR12630:SF6, PTHR12630:SF6, 1 hit

Pfam protein domain database

More...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

PROSITE; a protein domain and family database

More...PROSITEi		View protein in PROSITE
PS51912, DMAP1_BIND, 1 hit
PS51914, MRH, 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%5Flength">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>. The information is filed in different subsections. The current subsections and their content are listed below:<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%5Fsection">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">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%5Fsection">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">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>
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>
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>

<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

More...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

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...Ensembli		ENST00000204679; ENSP00000204679; ENSG00000090581

Database of genes from NCBI RefSeq genomes

More...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

3D structure databases

Database of comparative protein structure models

More...ModBasei		Search...

SWISS-MODEL Interactive Workspace

More...SWISS-MODEL-Workspacei		Submit a new modelling project...

Protein-protein interaction databases

BioGRIDi124144, 21 interactors
IntActiQ9UJJ9, 14 interactors
MINTiQ9UJJ9
STRINGi9606.ENSP00000204679

PTM databases

GlyGeniQ9UJJ9, 4 sites, 3 O-linked glycans (2 sites)
iPTMnetiQ9UJJ9
PhosphoSitePlusiQ9UJJ9

Polymorphism and mutation databases

BioMutaiGNPTG

Proteomic databases

CPTACiCPTAC-2710
EPDiQ9UJJ9
jPOSTiQ9UJJ9
MassIVEiQ9UJJ9
MaxQBiQ9UJJ9
PaxDbiQ9UJJ9
PeptideAtlasiQ9UJJ9
PRIDEiQ9UJJ9
ProteomicsDBi84628

Protocols and materials databases

Antibodypedia a portal for validated antibodies

More...Antibodypediai		1360, 98 antibodies

The DNASU plasmid repository

More...DNASUi		84572

Genome annotation databases

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

Organism-specific databases

Comparative Toxicogenomics Database

More...CTDi		84572
DisGeNETi84572
EuPathDBiHostDB:ENSG00000090581.9

GeneCards: human genes, protein and diseases

More...GeneCardsi		GNPTG
GeneReviewsiGNPTG
HGNCiHGNC:23026, GNPTG
HPAiENSG00000090581, Low tissue specificity
MalaCardsiGNPTG
MIMi252605, phenotype
607838, gene
neXtProtiNX_Q9UJJ9
OpenTargetsiENSG00000090581
Orphaneti423470, Mucolipidosis type III gamma
PharmGKBiPA134990433

GenAtlas: human gene database

More...GenAtlasi		Search...

Phylogenomic databases

eggNOGiKOG2397, Eukaryota
GeneTreeiENSGT00510000048359
HOGENOMiCLU_075705_0_0_1
InParanoidiQ9UJJ9
OMAiLCPFHNV
OrthoDBi632472at2759
PhylomeDBiQ9UJJ9
TreeFamiTF329550

Enzyme and pathway databases

PathwayCommonsiQ9UJJ9

Miscellaneous databases

BioGRID ORCS database of CRISPR phenotype screens

More...BioGRID-ORCSi		84572, 6 hits in 841 CRISPR screens

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

More...ChiTaRSi		GNPTG, human

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

More...GenomeRNAii		84572
PharosiQ9UJJ9, Tbio

Protein Ontology

More...PROi		PR:Q9UJJ9
RNActiQ9UJJ9, protein

The Stanford Online Universal Resource for Clones and ESTs

More...SOURCEi		Search...

Gene expression databases

BgeeiENSG00000090581, Expressed in left adrenal gland and 213 other tissues
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
PROSITEiView protein in PROSITE
PS51912, DMAP1_BIND, 1 hit
PS51914, MRH, 1 hit

ProtoNet; Automatic hierarchical classification of proteins

More...ProtoNeti		Search...

MobiDB: a database of protein disorder and mobility annotations

More...MobiDBi		Search...

<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%5Fand%5Fisoforms">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: December 2, 2020
This is version 137 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

Reference proteome

Documents

  1. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  2. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  3. Human chromosome 16
    Human chromosome 16: entries, gene names and cross-references to MIM
  4. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
UniProt is an ELIXIR core data resource
Main funding by: National Institutes of Health

We'd like to inform you that we have updated our Privacy Notice to comply with Europe’s new General Data Protection Regulation (GDPR) that applies since 25 May 2018.

Do not show this banner again