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Entry version 196 (13 Nov 2019)
Sequence version 3 (23 Jan 2007)
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Protein

Glutamine--fructose-6-phosphate aminotransferase [isomerizing] 1

Gene

GFPT1

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

Controls the flux of glucose into the hexosamine pathway. Most likely involved in regulating the availability of precursors for N- and O-linked glycosylation of proteins. Regulates the circadian expression of clock genes ARNTL/BMAL1 and CRY1.

<p>This subsection of the <a href="http://www.uniprot.org/help/function_section">Function</a> section describes the catalytic activity of an enzyme, i.e. a chemical reaction that the enzyme catalyzes.<p><a href='/help/catalytic_activity' target='_top'>More...</a></p>Catalytic activityi

<p>This subsection of the <a href="http://www.uniprot.org/help/function_section">'Function'</a> section describes the metabolic pathway(s) associated with a protein.<p><a href='/help/pathway' target='_top'>More...</a></p>Pathwayi: UDP-N-acetyl-alpha-D-glucosamine biosynthesis

This protein is involved in step 1 of the subpathway that synthesizes alpha-D-glucosamine 6-phosphate from D-fructose 6-phosphate.By similarity
Proteins known to be involved in this subpathway in this organism are:
  1. Glutamine--fructose-6-phosphate aminotransferase [isomerizing] 1 (GFPT1), Glutamine--fructose-6-phosphate aminotransferase [isomerizing] 2 (GFPT2)
This subpathway is part of the pathway UDP-N-acetyl-alpha-D-glucosamine biosynthesis, which is itself part of Nucleotide-sugar biosynthesis.
View all proteins of this organism that are known to be involved in the subpathway that synthesizes alpha-D-glucosamine 6-phosphate from D-fructose 6-phosphate, the pathway UDP-N-acetyl-alpha-D-glucosamine biosynthesis and in Nucleotide-sugar biosynthesis.

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/function_section">Function</a> section is used for enzymes and indicates the residues directly involved in catalysis.<p><a href='/help/act_site' target='_top'>More...</a></p>Active sitei2For GATase activityBy similarity1
<p>This subsection of the <a href="http://www.uniprot.org/help/function_section">Function</a> section describes the interaction between a single amino acid and another chemical entity. Priority is given to the annotation of physiological ligands.<p><a href='/help/binding' target='_top'>More...</a></p>Binding sitei444SubstrateCombined sources1 Publication1
Binding sitei595SubstrateCombined sources1 Publication1

<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

<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>Keywordsi

Molecular functionAminotransferase, Transferase
Biological processBiological rhythms

Enzyme and pathway databases

BioCyc Collection of Pathway/Genome Databases

More...
BioCyci
MetaCyc:HS09974-MONOMER

BRENDA Comprehensive Enzyme Information System

More...
BRENDAi
2.6.1.16 2681

Reactome - a knowledgebase of biological pathways and processes

More...
Reactomei
R-HSA-381038 XBP1(S) activates chaperone genes
R-HSA-4085023 Defective GFPT1 causes CMSTA1
R-HSA-446210 Synthesis of UDP-N-acetyl-glucosamine

SIGNOR Signaling Network Open Resource

More...
SIGNORi
Q06210

UniPathway: a resource for the exploration and annotation of metabolic pathways

More...
UniPathwayi
UPA00113;UER00528

Protein family/group databases

MEROPS protease database

More...
MEROPSi
C44.970

<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:
Glutamine--fructose-6-phosphate aminotransferase [isomerizing] 1 (EC:2.6.1.16By similarity)
Alternative name(s):
D-fructose-6-phosphate amidotransferase 1
Glutamine:fructose-6-phosphate amidotransferase 1
Short name:
GFAT 1
Short name:
GFAT1
Hexosephosphate aminotransferase 1
<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:GFPT1
Synonyms:GFAT, GFPT
<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 2

Organism-specific databases

Human Gene Nomenclature Database

More...
HGNCi
HGNC:4241 GFPT1

Online Mendelian Inheritance in Man (OMIM)

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MIMi
138292 gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_Q06210

<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>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

Myasthenic syndrome, congenital, 12 (CMS12)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA form of congenital myasthenic syndrome, a group of disorders characterized by failure of neuromuscular transmission, including pre-synaptic, synaptic, and post-synaptic disorders that are not of autoimmune origin. Clinical features are easy fatigability and muscle weakness. CMS12 is characterized by onset of proximal muscle weakness in the first decade. Individuals with this condition have a recognizable pattern of weakness of shoulder and pelvic girdle muscles, and sparing of ocular or facial muscles. EMG classically shows a decremental response to repeated nerve stimulation, a sign of neuromuscular junction dysfunction. Affected individuals show a favorable response to acetylcholinesterase (AChE) inhibitors.
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_06533915T → A in CMS12. 1 PublicationCorresponds to variant dbSNP:rs387906638EnsemblClinVar.1
Natural variantiVAR_06534015T → M in CMS12. 1 PublicationCorresponds to variant dbSNP:rs751097758Ensembl.1
Natural variantiVAR_06534143D → V in CMS12. 1 Publication1
Natural variantiVAR_065342111R → C in CMS12. 1 PublicationCorresponds to variant dbSNP:rs201322234EnsemblClinVar.1
Natural variantiVAR_065343121I → T in CMS12. 1 PublicationCorresponds to variant dbSNP:rs753866967Ensembl.1
Natural variantiVAR_065344199V → F in CMS12. 1 PublicationCorresponds to variant dbSNP:rs1378864996Ensembl.1
Natural variantiVAR_065345366D → Y in CMS12. 1 Publication1
Natural variantiVAR_065346403R → H in CMS12. 1 PublicationCorresponds to variant dbSNP:rs1363498649Ensembl.1
Natural variantiVAR_065347452R → H in CMS12. 1 Publication1
Natural variantiVAR_065348509M → T in CMS12. 1 Publication1
Natural variantiVAR_065349510M → T in CMS12. 1 Publication1
Natural variantiVAR_065350514R → W in CMS12. 1 Publication1
Natural variantiVAR_065351530R → W in CMS12. 1 PublicationCorresponds to variant dbSNP:rs1024585946Ensembl.1

Keywords - Diseasei

Congenital myasthenic syndrome, Disease mutation

Organism-specific databases

DisGeNET

More...
DisGeNETi
2673

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

More...
GeneReviewsi
GFPT1

MalaCards human disease database

More...
MalaCardsi
GFPT1
MIMi610542 phenotype

Open Targets

More...
OpenTargetsi
ENSG00000198380

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

More...
Orphaneti
353327 Congenital myasthenic syndromes with glycosylation defect

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...
PharmGKBi
PA28651

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...
Pharosi
Q06210

Chemistry databases

ChEMBL database of bioactive drug-like small molecules

More...
ChEMBLi
CHEMBL1909481

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
GFPT1

Domain mapping of disease mutations (DMDM)

More...
DMDMi
30923274

<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 <a href="http://www.uniprot.org/help/ptm_processing_section">PTM / Processing</a> section indicates that the initiator methionine is cleaved from the mature protein.<p><a href='/help/init_met' target='_top'>More...</a></p>Initiator methionineiRemovedBy similarity
<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_00001352802 – 699Glutamine--fructose-6-phosphate aminotransferase [isomerizing] 1Add BLAST698

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘PTM / Processing’ section specifies the position and type of each modified residue excluding <a href="http://www.uniprot.org/manual/lipid">lipids</a>, <a href="http://www.uniprot.org/manual/carbohyd">glycans</a> and <a href="http://www.uniprot.org/manual/crosslnk">protein cross-links</a>.<p><a href='/help/mod_res' target='_top'>More...</a></p>Modified residuei103PhosphoserineCombined sources1
Modified residuei261PhosphoserineCombined sources1

Keywords - PTMi

Phosphoprotein

Proteomic databases

The CPTAC Assay portal

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CPTACi
CPTAC-377
CPTAC-378

Encyclopedia of Proteome Dynamics

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EPDi
Q06210

jPOST - Japan Proteome Standard Repository/Database

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jPOSTi
Q06210

MassIVE - Mass Spectrometry Interactive Virtual Environment

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MassIVEi
Q06210

MaxQB - The MaxQuant DataBase

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MaxQBi
Q06210

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

More...
PaxDbi
Q06210

PeptideAtlas

More...
PeptideAtlasi
Q06210

PRoteomics IDEntifications database

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PRIDEi
Q06210

ProteomicsDB: a multi-organism proteome resource

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ProteomicsDBi
58423 [Q06210-1]
58424 [Q06210-2]

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

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iPTMneti
Q06210

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

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PhosphoSitePlusi
Q06210

SwissPalm database of S-palmitoylation events

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SwissPalmi
Q06210

<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

Isoform 1 is predominantly expressed in skeletal muscle. Not expressed in brain. Seems to be selectively expressed in striated muscle.1 Publication

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...
Bgeei
ENSG00000198380 Expressed in 228 organ(s), highest expression level in colon

Genevisible search portal to normalized and curated expression data from Genevestigator

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Genevisiblei
Q06210 HS

Organism-specific databases

Human Protein Atlas

More...
HPAi
HPA047240

<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

Homotetramer (Probable), may also exist as homodimers.

1 Publication

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

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BioGridi
108941, 80 interactors

Protein interaction database and analysis system

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IntActi
Q06210, 18 interactors

Molecular INTeraction database

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MINTi
Q06210

STRING: functional protein association networks

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STRINGi
9606.ENSP00000349860

Chemistry databases

BindingDB database of measured binding affinities

More...
BindingDBi
Q06210

<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

Secondary structure

1699
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details

3D structure databases

SWISS-MODEL Repository - a database of annotated 3D protein structure models

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SMRi
Q06210

Database of comparative protein structure models

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ModBasei
Search...

Protein Data Bank in Europe - Knowledge Base

More...
PDBe-KBi
Search...

Miscellaneous databases

Relative evolutionary importance of amino acids within a protein sequence

More...
EvolutionaryTracei
Q06210

<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>Domaini2 – 305Glutamine amidotransferase type-2PROSITE-ProRule annotationAdd BLAST304
Domaini377 – 516SIS 1PROSITE-ProRule annotationAdd BLAST140
Domaini548 – 689SIS 2PROSITE-ProRule annotationAdd BLAST142

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Family and Domains’ section describes a region of interest that cannot be described in other subsections.<p><a href='/help/region' target='_top'>More...</a></p>Regioni313 – 680IsomeraseAdd BLAST368
Regioni394 – 395Substrate-bindingCombined sources1 Publication2
Regioni439 – 441Substrate-bindingCombined sources1 Publication3

Keywords - Domaini

Glutamine amidotransferase, Repeat

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

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eggNOGi
KOG1268 Eukaryota
COG0449 LUCA

Ensembl GeneTree

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GeneTreei
ENSGT00940000158488

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

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HOGENOMi
HOG000258898

InParanoid: Eukaryotic Ortholog Groups

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InParanoidi
Q06210

KEGG Orthology (KO)

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KOi
K00820

Identification of Orthologs from Complete Genome Data

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OMAi
AYTHAGP

Database of Orthologous Groups

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OrthoDBi
262871at2759

Database for complete collections of gene phylogenies

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PhylomeDBi
Q06210

TreeFam database of animal gene trees

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TreeFami
TF300864

Family and domain databases

Conserved Domains Database

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CDDi
cd05008 SIS_GlmS_GlmD_1, 1 hit
cd05009 SIS_GlmS_GlmD_2, 1 hit

Integrated resource of protein families, domains and functional sites

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InterProi
View protein in InterPro
IPR017932 GATase_2_dom
IPR035466 GlmS/AgaS_SIS
IPR035490 GlmS/FrlB_SIS
IPR005855 GlmS_trans
IPR029055 Ntn_hydrolases_N
IPR001347 SIS

Pfam protein domain database

More...
Pfami
View protein in Pfam
PF01380 SIS, 2 hits

Superfamily database of structural and functional annotation

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SUPFAMi
SSF56235 SSF56235, 1 hit

TIGRFAMs; a protein family database

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TIGRFAMsi
TIGR01135 glmS, 1 hit

PROSITE; a protein domain and family database

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PROSITEi
View protein in PROSITE
PS51278 GATASE_TYPE_2, 1 hit
PS51464 SIS, 2 hits

<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>. 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>Sequences (2)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 describes 2 <p>This subsection of the ‘Sequence’ section lists the alternative protein sequences (isoforms) that can be generated from the same gene by a single or by the combination of up to four biological events (alternative promoter usage, alternative splicing, alternative initiation and ribosomal frameshifting). Additionally, this section gives relevant information on each alternative protein isoform.<p><a href='/help/alternative_products' target='_top'>More...</a></p> isoformsi produced by alternative splicing. AlignAdd to basket
Isoform 1 (identifier: Q06210-1) [UniParc]FASTAAdd to basket
Also known as: GFAT1m

This isoform has been chosen as the <div> <p><b>What is the canonical sequence?</b><p><a href='/help/canonical_and_isoforms' target='_top'>More...</a></p>canonicali sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide
        10         20         30         40         50
MCGIFAYLNY HVPRTRREIL ETLIKGLQRL EYRGYDSAGV GFDGGNDKDW
60 70 80 90 100
EANACKIQLI KKKGKVKALD EEVHKQQDMD LDIEFDVHLG IAHTRWATHG
110 120 130 140 150
EPSPVNSHPQ RSDKNNEFIV IHNGIITNYK DLKKFLESKG YDFESETDTE
160 170 180 190 200
TIAKLVKYMY DNRESQDTSF TTLVERVIQQ LEGAFALVFK SVHFPGQAVG
210 220 230 240 250
TRRGSPLLIG VRSEHKLSTD HIPILYRTAR TQIGSKFTRW GSQGERGKDK
260 270 280 290 300
KGSCNLSRVD STTCLFPVEE KAVEYYFASD ASAVIEHTNR VIFLEDDDVA
310 320 330 340 350
AVVDGRLSIH RIKRTAGDHP GRAVQTLQME LQQIMKGNFS SFMQKEIFEQ
360 370 380 390 400
PESVVNTMRG RVNFDDYTVN LGGLKDHIKE IQRCRRLILI ACGTSYHAGV
410 420 430 440 450
ATRQVLEELT ELPVMVELAS DFLDRNTPVF RDDVCFFLSQ SGETADTLMG
460 470 480 490 500
LRYCKERGAL TVGITNTVGS SISRETDCGV HINAGPEIGV ASTKAYTSQF
510 520 530 540 550
VSLVMFALMM CDDRISMQER RKEIMLGLKR LPDLIKEVLS MDDEIQKLAT
560 570 580 590 600
ELYHQKSVLI MGRGYHYATC LEGALKIKEI TYMHSEGILA GELKHGPLAL
610 620 630 640 650
VDKLMPVIMI IMRDHTYAKC QNALQQVVAR QGRPVVICDK EDTETIKNTK
660 670 680 690
RTIKVPHSVD CLQGILSVIP LQLLAFHLAV LRGYDVDFPR NLAKSVTVE
Length:699
Mass (Da):78,806
Last modified:January 23, 2007 - v3
<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:iF0533A7B762C7B98
GO
Isoform 2 (identifier: Q06210-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     229-246: Missing.

Show »
Length:681
Mass (Da):76,759
Checksum:i5CB56FDB5E4F76FA
GO

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_06533915T → A in CMS12. 1 PublicationCorresponds to variant dbSNP:rs387906638EnsemblClinVar.1
Natural variantiVAR_06534015T → M in CMS12. 1 PublicationCorresponds to variant dbSNP:rs751097758Ensembl.1
Natural variantiVAR_06534143D → V in CMS12. 1 Publication1
Natural variantiVAR_065342111R → C in CMS12. 1 PublicationCorresponds to variant dbSNP:rs201322234EnsemblClinVar.1
Natural variantiVAR_065343121I → T in CMS12. 1 PublicationCorresponds to variant dbSNP:rs753866967Ensembl.1
Natural variantiVAR_065344199V → F in CMS12. 1 PublicationCorresponds to variant dbSNP:rs1378864996Ensembl.1
Natural variantiVAR_065345366D → Y in CMS12. 1 Publication1
Natural variantiVAR_065346403R → H in CMS12. 1 PublicationCorresponds to variant dbSNP:rs1363498649Ensembl.1
Natural variantiVAR_065347452R → H in CMS12. 1 Publication1
Natural variantiVAR_065348509M → T in CMS12. 1 Publication1
Natural variantiVAR_065349510M → T in CMS12. 1 Publication1
Natural variantiVAR_065350514R → W in CMS12. 1 Publication1
Natural variantiVAR_065351530R → W in CMS12. 1 PublicationCorresponds to variant dbSNP:rs1024585946Ensembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section describes the sequence of naturally occurring alternative protein isoform(s). The changes in the amino acid sequence may be due to alternative splicing, alternative promoter usage, alternative initiation, or ribosomal frameshifting.<p><a href='/help/var_seq' target='_top'>More...</a></p>Alternative sequenceiVSP_007497229 – 246Missing in isoform 2. 2 PublicationsAdd BLAST18

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

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EMBLi

GenBank nucleotide sequence database

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GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

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DDBJi
Links Updated
M90516 mRNA Translation: AAA58502.1
AC114772 Genomic DNA Translation: AAY14827.1
BC045641 mRNA Translation: AAH45641.1
AF334737 mRNA Translation: AAK15342.1

The Consensus CDS (CCDS) project

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CCDSi
CCDS33216.1 [Q06210-2]
CCDS58713.1 [Q06210-1]

Protein sequence database of the Protein Information Resource

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PIRi
A45055

NCBI Reference Sequences

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RefSeqi
NP_001231639.1, NM_001244710.1 [Q06210-1]
NP_002047.2, NM_002056.3 [Q06210-2]

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...
Ensembli
ENST00000357308; ENSP00000349860; ENSG00000198380 [Q06210-1]
ENST00000361060; ENSP00000354347; ENSG00000198380 [Q06210-2]

Database of genes from NCBI RefSeq genomes

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GeneIDi
2673

KEGG: Kyoto Encyclopedia of Genes and Genomes

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KEGGi
hsa:2673

UCSC genome browser

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UCSCi
uc002sfh.4 human [Q06210-1]

Keywords - Coding sequence diversityi

Alternative splicing

<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
M90516 mRNA Translation: AAA58502.1
AC114772 Genomic DNA Translation: AAY14827.1
BC045641 mRNA Translation: AAH45641.1
AF334737 mRNA Translation: AAK15342.1
CCDSiCCDS33216.1 [Q06210-2]
CCDS58713.1 [Q06210-1]
PIRiA45055
RefSeqiNP_001231639.1, NM_001244710.1 [Q06210-1]
NP_002047.2, NM_002056.3 [Q06210-2]

3D structure databases

Select the link destinations:

Protein Data Bank Europe

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PDBei

Protein Data Bank RCSB

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RCSB PDBi

Protein Data Bank Japan

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PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
2V4MX-ray2.29A/B/C/D332-699[»]
2ZJ3X-ray1.90A332-699[»]
2ZJ4X-ray2.20A332-699[»]
SMRiQ06210
ModBaseiSearch...
PDBe-KBiSearch...

Protein-protein interaction databases

BioGridi108941, 80 interactors
IntActiQ06210, 18 interactors
MINTiQ06210
STRINGi9606.ENSP00000349860

Chemistry databases

BindingDBiQ06210
ChEMBLiCHEMBL1909481

Protein family/group databases

MEROPSiC44.970

PTM databases

iPTMnetiQ06210
PhosphoSitePlusiQ06210
SwissPalmiQ06210

Polymorphism and mutation databases

BioMutaiGFPT1
DMDMi30923274

Proteomic databases

CPTACiCPTAC-377
CPTAC-378
EPDiQ06210
jPOSTiQ06210
MassIVEiQ06210
MaxQBiQ06210
PaxDbiQ06210
PeptideAtlasiQ06210
PRIDEiQ06210
ProteomicsDBi58423 [Q06210-1]
58424 [Q06210-2]

Genome annotation databases

EnsembliENST00000357308; ENSP00000349860; ENSG00000198380 [Q06210-1]
ENST00000361060; ENSP00000354347; ENSG00000198380 [Q06210-2]
GeneIDi2673
KEGGihsa:2673
UCSCiuc002sfh.4 human [Q06210-1]

Organism-specific databases

Comparative Toxicogenomics Database

More...
CTDi
2673
DisGeNETi2673

GeneCards: human genes, protein and diseases

More...
GeneCardsi
GFPT1
GeneReviewsiGFPT1
HGNCiHGNC:4241 GFPT1
HPAiHPA047240
MalaCardsiGFPT1
MIMi138292 gene
610542 phenotype
neXtProtiNX_Q06210
OpenTargetsiENSG00000198380
Orphaneti353327 Congenital myasthenic syndromes with glycosylation defect
PharmGKBiPA28651

GenAtlas: human gene database

More...
GenAtlasi
Search...

Phylogenomic databases

eggNOGiKOG1268 Eukaryota
COG0449 LUCA
GeneTreeiENSGT00940000158488
HOGENOMiHOG000258898
InParanoidiQ06210
KOiK00820
OMAiAYTHAGP
OrthoDBi262871at2759
PhylomeDBiQ06210
TreeFamiTF300864

Enzyme and pathway databases

UniPathwayiUPA00113;UER00528
BioCyciMetaCyc:HS09974-MONOMER
BRENDAi2.6.1.16 2681
ReactomeiR-HSA-381038 XBP1(S) activates chaperone genes
R-HSA-4085023 Defective GFPT1 causes CMSTA1
R-HSA-446210 Synthesis of UDP-N-acetyl-glucosamine
SIGNORiQ06210

Miscellaneous databases

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

More...
ChiTaRSi
GFPT1 human
EvolutionaryTraceiQ06210

The Gene Wiki collection of pages on human genes and proteins

More...
GeneWikii
GFPT1

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

More...
GenomeRNAii
2673
PharosiQ06210

Protein Ontology

More...
PROi
PR:Q06210

The Stanford Online Universal Resource for Clones and ESTs

More...
SOURCEi
Search...

Gene expression databases

BgeeiENSG00000198380 Expressed in 228 organ(s), highest expression level in colon
GenevisibleiQ06210 HS

Family and domain databases

CDDicd05008 SIS_GlmS_GlmD_1, 1 hit
cd05009 SIS_GlmS_GlmD_2, 1 hit
InterProiView protein in InterPro
IPR017932 GATase_2_dom
IPR035466 GlmS/AgaS_SIS
IPR035490 GlmS/FrlB_SIS
IPR005855 GlmS_trans
IPR029055 Ntn_hydrolases_N
IPR001347 SIS
PfamiView protein in Pfam
PF01380 SIS, 2 hits
SUPFAMiSSF56235 SSF56235, 1 hit
TIGRFAMsiTIGR01135 glmS, 1 hit
PROSITEiView protein in PROSITE
PS51278 GATASE_TYPE_2, 1 hit
PS51464 SIS, 2 hits

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 nameiGFPT1_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: Q06210
Secondary accession number(s): Q53QE6, Q9BXF8
<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: June 1, 1994
Last sequence update: January 23, 2007
Last modified: November 13, 2019
This is version 196 of the entry and version 3 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

3D-structure, Complete proteome, Reference proteome

Documents

  1. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  2. Human chromosome 2
    Human chromosome 2: entries, gene names and cross-references to MIM
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. PATHWAY comments
    Index of metabolic and biosynthesis pathways
  6. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
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