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UniProtKB - P30793 (GCH1_HUMAN)

Entry version 217 (25 May 2022)
Sequence version 1 (01 Jul 1993)
Previous versions | rss
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Protein

GTP cyclohydrolase 1

Gene

GCH1

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

Positively regulates nitric oxide synthesis in umbilical vein endothelial cells (HUVECs). May be involved in dopamine synthesis. May modify pain sensitivity and persistence. Isoform GCH-1 is the functional enzyme, the potential function of the enzymatically inactive isoforms remains unknown.

5 Publications

<p>This subsection of the <a href="http://www.uniprot.org/help/function%5Fsection">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%5Fsection">Function</a> section describes regulatory mechanisms for enzymes, transporters or microbial transcription factors, and reports the components which regulate (by activation or inhibition) the reaction.<p><a href='/help/activity_regulation' target='_top'>More...</a></p>Activity regulationi

GTP shows a positive allosteric effect, and tetrahydrobiopterin inhibits the enzyme activity. Zinc is required for catalytic activity. Inhibited by Mg2+.3 Publications

<p>This subsection of the 'Function' section describes biophysical and chemical properties, such as maximal absorption, kinetic parameters, pH dependence, redox potentials and temperature dependence.<p><a href='/help/biophysicochemical_properties' target='_top'>More...</a></p>Kineticsi

  1. KM=116 µM for GTP1 Publication

pH dependencei

Optimum pH is 7.7 in phosphate buffer.1 Publication

Temperature dependencei

Relatively stable at high temperatures. Retains 50% of its activity after incubation at 70 degrees Celsius for 15 minutes.1 Publication

<p>This subsection of the <a href="http://www.uniprot.org/help/function%5Fsection">'Function'</a> section describes the metabolic pathway(s) associated with a protein.<p><a href='/help/pathway' target='_top'>More...</a></p>Pathwayi: 7,8-dihydroneopterin triphosphate biosynthesis

This protein is involved in step 1 of the subpathway that synthesizes 7,8-dihydroneopterin triphosphate from GTP.3 Publications This subpathway is part of the pathway 7,8-dihydroneopterin triphosphate biosynthesis, which is itself part of Cofactor biosynthesis.
View all proteins of this organism that are known to be involved in the subpathway that synthesizes 7,8-dihydroneopterin triphosphate from GTP, the pathway 7,8-dihydroneopterin triphosphate biosynthesis and in Cofactor biosynthesis.

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/function%5Fsection">Function</a> section indicates at which position the protein binds a given metal ion. The nature of the metal is indicated in the 'Description' field.<p><a href='/help/metal' target='_top'>More...</a></p>Metal bindingi141Zinc1 Publication1
Metal bindingi144Zinc1 Publication1
Metal bindingi212Zinc1 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

Complete GO annotation on QuickGO ...

GO - Biological processi

Complete GO annotation on QuickGO ...

<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 functionAllosteric enzyme, Hydrolase
Biological processTetrahydrobiopterin biosynthesis
LigandGTP-binding, Metal-binding, Nucleotide-binding, Zinc

Enzyme and pathway databases

BRENDA Comprehensive Enzyme Information System

More...BRENDAi		3.5.4.16, 2681

Pathway Commons web resource for biological pathway data

More...PathwayCommonsi		P30793

Reactome - a knowledgebase of biological pathways and processes

More...Reactomei		R-HSA-1474151, Tetrahydrobiopterin (BH4) synthesis, recycling, salvage and regulation

SABIO-RK: Biochemical Reaction Kinetics Database

More...SABIO-RKi		P30793

SignaLink: a signaling pathway resource with multi-layered regulatory networks

More...SignaLinki		P30793

SIGNOR Signaling Network Open Resource

More...SIGNORi		P30793

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

More...UniPathwayi		UPA00848;UER00151

<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:
GTP cyclohydrolase 1 (EC:3.5.4.163 Publications)
Alternative name(s):
GTP cyclohydrolase I
Short name:
GTP-CH-I
<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:GCH1
Synonyms:DYT5, GCH
<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 14

Organism-specific databases

Human Gene Nomenclature Database

More...HGNCi		HGNC:4193, GCH1

Online Mendelian Inheritance in Man (OMIM)

More...MIMi		600225, gene

neXtProt; the human protein knowledge platform

More...neXtProti		NX_P30793

Eukaryotic Pathogen, Vector and Host Database Resources

More...VEuPathDBi		HostDB:ENSG00000131979

<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

Keywords - Cellular componenti

Cytoplasm, Nucleus

<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

Hyperphenylalaninemia, BH4-deficient, B (HPABH4B)2 Publications
The disease is caused by variants affecting the gene represented in this entry.
Disease descriptionA disease characterized by malignant hyperphenylalaninemia due to tetrahydrobiopterin deficiency, and defective neurotransmission due to depletion of the neurotransmitters dopamine and serotonin. The principal symptoms include: psychomotor retardation, tonicity disorders, convulsions, drowsiness, irritability, abnormal movements, hyperthermia, hypersalivation, and difficulty swallowing. Some patients may present a phenotype of intermediate severity between severe hyperphenylalaninemia and mild dystonia. In this intermediate phenotype, there is marked motor delay, but no mental retardation and only minimal, if any, hyperphenylalaninemia.
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_016894108G → D in HPABH4B; intermediate phenotype presenting with dystonia and motor delay. 1 PublicationCorresponds to variant dbSNP:rs104894435EnsemblClinVar.1
Natural variantiVAR_002643184R → H in HPABH4B; severe hyperphenylalaninemia. 1 PublicationCorresponds to variant dbSNP:rs104894445EnsemblClinVar.1
Natural variantiVAR_002647211M → I in HPABH4B; severe hyperphenylalaninemia. 1 PublicationCorresponds to variant dbSNP:rs104894443EnsemblClinVar.1
Natural variantiVAR_016905221M → T in HPABH4B; intermediate phenotype presenting with dystonia and motor delay. 1 PublicationCorresponds to variant dbSNP:rs104894434EnsemblClinVar.1
Natural variantiVAR_002648224K → R in HPABH4B and DRD; phenotype presenting with dystonia and myoclonus. 3 PublicationsCorresponds to variant dbSNP:rs41298442EnsemblClinVar.1
Dystonia, dopa-responsive (DRD)15 Publications
The disease is caused by variants affecting the gene represented in this entry.
Disease descriptionA form of dystonia that responds to L-DOPA treatment without side effects. Dystonia is defined by the presence of sustained involuntary muscle contractions, often leading to abnormal postures. DRD typically presents in childhood with walking problems due to dystonia of the lower limbs and worsening of the dystonia towards the evening. It is characterized by postural and motor disturbances showing marked diurnal fluctuation. Torsion of the trunk is unusual. Symptoms are alleviated after sleep and aggravated by fatigue and exercise.
Related information in OMIM
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_00263323P → L in DRD. 1 PublicationCorresponds to variant dbSNP:rs41298432EnsemblClinVar.1
Natural variantiVAR_01688871L → Q in DRD. 1 Publication1
Natural variantiVAR_01688974A → V in DRD. 1 Publication1
Natural variantiVAR_00263479L → P in DRD. 1 Publication1
Natural variantiVAR_01689083G → A in DRD. 2 Publications1
Natural variantiVAR_01689188 – 89Missing in DRD. 1 Publication2
Natural variantiVAR_00263588R → P in DRD. 1 Publication1
Natural variantiVAR_00263688R → W in DRD. 1 PublicationCorresponds to variant dbSNP:rs104894433EnsemblClinVar.1
Natural variantiVAR_01689290G → V in DRD. 1 Publication1
Natural variantiVAR_002637102M → K in DRD. 1 Publication1
Natural variantiVAR_016893102M → R in DRD. 1 Publication1
Natural variantiVAR_054112106T → I in DRD. 1 Publication1
Natural variantiVAR_016895115D → N in DRD. 1 PublicationCorresponds to variant dbSNP:rs1393095176EnsemblClinVar.1
Natural variantiVAR_002638134D → V in DRD. 1 PublicationCorresponds to variant dbSNP:rs104894437EnsemblClinVar.1
Natural variantiVAR_016896135I → K in DRD. 1 PublicationCorresponds to variant dbSNP:rs104894441EnsemblClinVar.1
Natural variantiVAR_016897141C → R in DRD. 1 Publication1
Natural variantiVAR_002639141C → W in DRD. 1 Publication1
Natural variantiVAR_002640144H → P in DRD. 1 PublicationCorresponds to variant dbSNP:rs104894440EnsemblClinVar.1
Natural variantiVAR_002641153H → P in DRD. 1 Publication1
Natural variantiVAR_016898163L → R in DRD. 1 Publication1
Natural variantiVAR_016899176S → T in DRD. 1 Publication1
Natural variantiVAR_002642178R → S in DRD. 3 Publications1
Natural variantiVAR_016900180Q → R in DRD. 1 Publication1
Natural variantiVAR_002644186T → K in DRD. 1 Publication1
Natural variantiVAR_016901191V → I in DRD. 1 PublicationCorresponds to variant dbSNP:rs762208304Ensembl.1
Natural variantiVAR_016902199P → L in DRD. 1 Publication1
Natural variantiVAR_002645201G → E in DRD. 2 PublicationsCorresponds to variant dbSNP:rs104894438EnsemblClinVar.1
Natural variantiVAR_002646203G → R in DRD. 1 PublicationCorresponds to variant dbSNP:rs988395114EnsemblClinVar.1
Natural variantiVAR_016903211M → V in DRD. 1 Publication1
Natural variantiVAR_016904213M → V in DRD. 1 PublicationCorresponds to variant dbSNP:rs1348562494Ensembl.1
Natural variantiVAR_002648224K → R in HPABH4B and DRD; phenotype presenting with dystonia and myoclonus. 3 PublicationsCorresponds to variant dbSNP:rs41298442EnsemblClinVar.1
Natural variantiVAR_002649234F → S in DRD. 1 Publication1
Natural variantiVAR_016906241R → W in DRD. 1 PublicationCorresponds to variant dbSNP:rs1375209791Ensembl.1
Natural variantiVAR_016907249R → S in DRD. 1 PublicationCorresponds to variant dbSNP:rs104894442EnsemblClinVar.1

Keywords - Diseasei

Disease variant, Dystonia, Parkinsonism, Phenylketonuria

Organism-specific databases

DisGeNET

More...DisGeNETi		2643

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

More...GeneReviewsi		GCH1

MalaCards human disease database

More...MalaCardsi		GCH1
MIMi128230, phenotype
233910, phenotype

Open Targets

More...OpenTargetsi		ENSG00000131979

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

More...Orphaneti		98808, Autosomal dominant dopa-responsive dystonia
2102, GTP cyclohydrolase I deficiency

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...PharmGKBi		PA28608

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...Pharosi		P30793, Tbio

Chemistry databases

Drug and drug target database

More...DrugBanki		DB02377, Guanine

Genetic variation databases

BioMuta curated single-nucleotide variation and disease association database

More...BioMutai		GCH1

Domain mapping of disease mutations (DMDM)

More...DMDMi		399536

<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 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_00001194781 – 250GTP cyclohydrolase 1Add BLAST250

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 residuei60PhosphoserineCombined sources1
Modified residuei81Phosphoserine1 Publication1

<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

Phosphorylated by casein kinase II at Ser-81 in HAECs during oscillatory shear stress; phosphorylation at Ser-81 results in increased enzyme activity.1 Publication

Keywords - PTMi

Phosphoprotein

Proteomic databases

Encyclopedia of Proteome Dynamics

More...EPDi		P30793

MassIVE - Mass Spectrometry Interactive Virtual Environment

More...MassIVEi		P30793

MaxQB - The MaxQuant DataBase

More...MaxQBi		P30793

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

More...PaxDbi		P30793

PeptideAtlas

More...PeptideAtlasi		P30793

PRoteomics IDEntifications database

More...PRIDEi		P30793

ProteomicsDB: a multi-organism proteome resource

More...ProteomicsDBi		54735 [P30793-1]
54736 [P30793-2]
54737 [P30793-3]
54738 [P30793-4]

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...iPTMneti		P30793

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

More...PhosphoSitePlusi		P30793

<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

In epidermis, expressed predominantly in basal undifferentiated keratinocytes and in some but not all melanocytes (at protein level).1 Publication

<p>This subsection of the 'Expression' section reports the experimentally proven effects of inducers and repressors (usually chemical compounds or environmental factors) on the level of protein (or mRNA) expression (up-regulation, down-regulation, constitutive expression).<p><a href='/help/induction' target='_top'>More...</a></p>Inductioni

Up-regulated by IFNG/IFN-gamma, TNF, IL1B/interleukin-1 beta, bacterial lipopolysaccharides (LPS) and phenylalanine, and down-regulated by dibutyryl-cAMP, iloprost and 8-bromo-cGMP in HUVEC cells. Up-regulation of GCH1 expression, in turn, stimulates production of tetrahydrobiopterin, with subsequent elevation of endothelial nitric oxide synthase activity. Cytokine-induced GCH1 up-regulation in HUVECs in response to TNF and IFNG/IFN-gamma involves cooperative activation of both the NF-kappa-B and JAK2/STAT pathways. Also up-regulated by hydrogen peroxide in human aorta endothelial cells (HAECs).7 Publications

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...Bgeei		ENSG00000131979, Expressed in secondary oocyte and 215 other tissues

ExpressionAtlas, Differential and Baseline Expression

More...ExpressionAtlasi		P30793, baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...Genevisiblei		P30793, HS

Organism-specific databases

Human Protein Atlas

More...HPAi		ENSG00000131979, Tissue enhanced (bone marrow, liver)

<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

Toroid-shaped homodecamer, composed of a dimer of pentamers. The inactive isoforms also form decamers and may possibly be incorporated into GCH1 heterodecamers, decreasing enzyme stability and activity.

Interacts with AHSA1 and GCHFR/GFRP.

3 Publications

<p>This subsection of the '<a href="http://www.uniprot.org/help/interaction%5Fsection">Interaction</a>' section provides information about binary protein-protein interactions. The data presented in this section are a quality-filtered subset of binary interactions automatically derived from the <a href="https://www.ebi.ac.uk/intact/">IntAct database</a>. It is updated at every <a href="http://www.uniprot.org/help/synchronization">UniProt release</a>.<p><a href='/help/binary_interactions' target='_top'>More...</a></p>Binary interactionsi

Hide details

GO - Molecular functioni

Complete GO annotation on QuickGO ...

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGRID)

More...BioGRIDi		108913, 68 interactors

Protein interaction database and analysis system

More...IntActi		P30793, 33 interactors

Molecular INTeraction database

More...MINTi		P30793

STRING: functional protein association networks

More...STRINGi		9606.ENSP00000419045

Miscellaneous databases

RNAct, Protein-RNA interaction predictions for model organisms.

More...RNActi		P30793, protein

<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

1250
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details

3D structure databases

AlphaFold Protein Structure Database

More...AlphaFoldDBi		P30793

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

More...SMRi		P30793

Database of comparative protein structure models

More...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		P30793

<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

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>Regioni1 – 64DisorderedSequence analysisAdd BLAST64

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Family and Domains' section describes the position of regions of compositional bias within the protein and the particular type of amino acids that are over-represented within those regions.<p><a href='/help/compbias' target='_top'>More...</a></p>Compositional biasi50 – 64Basic and acidic residuesSequence analysisAdd BLAST15

<p>This subsection of the 'Family and domains' section provides information about the sequence similarity with other proteins.<p><a href='/help/sequence_similarities' target='_top'>More...</a></p>Sequence similaritiesi

Belongs to the GTP cyclohydrolase I family.Curated

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...eggNOGi		KOG2698, Eukaryota

Ensembl GeneTree

More...GeneTreei		ENSGT00390000013481

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...HOGENOMi		CLU_049768_1_3_1

InParanoid: Eukaryotic Ortholog Groups

More...InParanoidi		P30793

Identification of Orthologs from Complete Genome Data

More...OMAi		CEHMCMS

Database for complete collections of gene phylogenies

More...PhylomeDBi		P30793

TreeFam database of animal gene trees

More...TreeFami		TF105616

Family and domain databases

Gene3D Structural and Functional Annotation of Protein Families

More...Gene3Di		1.10.286.10, 1 hit
3.30.1130.10, 1 hit

HAMAP database of protein families

More...HAMAPi		MF_00223, FolE, 1 hit

Integrated resource of protein families, domains and functional sites

More...InterProi		View protein in InterPro
IPR043133, GTP-CH-I_C/QueF
IPR043134, GTP-CH-I_N
IPR001474, GTP_CycHdrlase_I
IPR018234, GTP_CycHdrlase_I_CS
IPR020602, GTP_CycHdrlase_I_dom

The PANTHER Classification System

More...PANTHERi		PTHR11109, PTHR11109, 1 hit

Pfam protein domain database

More...Pfami		View protein in Pfam
PF01227, GTP_cyclohydroI, 1 hit

TIGRFAMs; a protein family database

More...TIGRFAMsi		TIGR00063, folE, 1 hit

PROSITE; a protein domain and family database

More...PROSITEi		View protein in PROSITE
PS00859, GTP_CYCLOHYDROL_1_1, 1 hit
PS00860, GTP_CYCLOHYDROL_1_2, 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>Sequences (4)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.

This entry describes 4 <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 GCH-1 (identifier: P30793-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the <p><strong>What is the canonical sequence?</strong><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
MEKGPVRAPA EKPRGARCSN GFPERDPPRP GPSRPAEKPP RPEAKSAQPA 
        60         70         80         90        100
DGWKGERPRS EEDNELNLPN LAAAYSSILS SLGENPQRQG LLKTPWRAAS 
       110        120        130        140        150
AMQFFTKGYQ ETISDVLNDA IFDEDHDEMV IVKDIDMFSM CEHHLVPFVG 
       160        170        180        190        200
KVHIGYLPNK QVLGLSKLAR IVEIYSRRLQ VQERLTKQIA VAITEALRPA 
       210        220        230        240        250
GVGVVVEATH MCMVMRGVQK MNSKTVTSTM LGVFREDPKT REEFLTLIRS
Length:250
Mass (Da):27,903
Last modified:July 1, 1993 - 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:iB8A0CB344C598B9A
GO
Isoform GCH-2 (identifier: P30793-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     210-213: HMCM → SAEP
     214-250: Missing.

Show »
Length:213
Mass (Da):23,516
Checksum:i021D95DE6B33E02A
GO
Isoform GCH-3 (identifier: P30793-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     210-250: Missing.

Show »
Length:209
Mass (Da):23,131
Checksum:i8B33E02A53DF1259
GO
Isoform GCH-4 (identifier: P30793-4) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     210-233: HMCMVMRGVQKMNSKTVTSTMLGV → KSNKYNKGLSPLLSSCHLFVAILK
     234-250: Missing.

Show »
Length:233
Mass (Da):25,775
Checksum:i7100FBD83BFDB2C9
GO

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 conflicti11E → G in AAD38866 (PubMed:11284739).Curated1
Sequence conflicti206V → I in CAA78908 (PubMed:1482676).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_00263215G → D in HGCH-3. 1
Natural variantiVAR_00263323P → L in DRD. 1 PublicationCorresponds to variant dbSNP:rs41298432EnsemblClinVar.1
Natural variantiVAR_01688871L → Q in DRD. 1 Publication1
Natural variantiVAR_01688974A → V in DRD. 1 Publication1
Natural variantiVAR_07273375Y → C Found in patients with DRD; unknown pathological significance. 1
Natural variantiVAR_00263479L → P in DRD. 1 Publication1
Natural variantiVAR_01689083G → A in DRD. 2 Publications1
Natural variantiVAR_01689188 – 89Missing in DRD. 1 Publication2
Natural variantiVAR_00263588R → P in DRD. 1 Publication1
Natural variantiVAR_00263688R → W in DRD. 1 PublicationCorresponds to variant dbSNP:rs104894433EnsemblClinVar.1
Natural variantiVAR_01689290G → V in DRD. 1 Publication1
Natural variantiVAR_07273498A → V. 1
Natural variantiVAR_002637102M → K in DRD. 1 Publication1
Natural variantiVAR_016893102M → R in DRD. 1 Publication1
Natural variantiVAR_054112106T → I in DRD. 1 Publication1
Natural variantiVAR_016894108G → D in HPABH4B; intermediate phenotype presenting with dystonia and motor delay. 1 PublicationCorresponds to variant dbSNP:rs104894435EnsemblClinVar.1
Natural variantiVAR_016895115D → N in DRD. 1 PublicationCorresponds to variant dbSNP:rs1393095176EnsemblClinVar.1
Natural variantiVAR_002638134D → V in DRD. 1 PublicationCorresponds to variant dbSNP:rs104894437EnsemblClinVar.1
Natural variantiVAR_016896135I → K in DRD. 1 PublicationCorresponds to variant dbSNP:rs104894441EnsemblClinVar.1
Natural variantiVAR_072735135I → T. 1
Natural variantiVAR_016897141C → R in DRD. 1 Publication1
Natural variantiVAR_002639141C → W in DRD. 1 Publication1
Natural variantiVAR_002640144H → P in DRD. 1 PublicationCorresponds to variant dbSNP:rs104894440EnsemblClinVar.1
Natural variantiVAR_002641153H → P in DRD. 1 Publication1
Natural variantiVAR_016898163L → R in DRD. 1 Publication1
Natural variantiVAR_016899176S → T in DRD. 1 Publication1
Natural variantiVAR_002642178R → S in DRD. 3 Publications1
Natural variantiVAR_016900180Q → R in DRD. 1 Publication1
Natural variantiVAR_002643184R → H in HPABH4B; severe hyperphenylalaninemia. 1 PublicationCorresponds to variant dbSNP:rs104894445EnsemblClinVar.1
Natural variantiVAR_002644186T → K in DRD. 1 Publication1
Natural variantiVAR_016901191V → I in DRD. 1 PublicationCorresponds to variant dbSNP:rs762208304Ensembl.1
Natural variantiVAR_016902199P → L in DRD. 1 Publication1
Natural variantiVAR_002645201G → E in DRD. 2 PublicationsCorresponds to variant dbSNP:rs104894438EnsemblClinVar.1
Natural variantiVAR_002646203G → R in DRD. 1 PublicationCorresponds to variant dbSNP:rs988395114EnsemblClinVar.1
Natural variantiVAR_002647211M → I in HPABH4B; severe hyperphenylalaninemia. 1 PublicationCorresponds to variant dbSNP:rs104894443EnsemblClinVar.1
Natural variantiVAR_016903211M → V in DRD. 1 Publication1
Natural variantiVAR_016904213M → V in DRD. 1 PublicationCorresponds to variant dbSNP:rs1348562494Ensembl.1
Natural variantiVAR_016905221M → T in HPABH4B; intermediate phenotype presenting with dystonia and motor delay. 1 PublicationCorresponds to variant dbSNP:rs104894434EnsemblClinVar.1
Natural variantiVAR_002648224K → R in HPABH4B and DRD; phenotype presenting with dystonia and myoclonus. 3 PublicationsCorresponds to variant dbSNP:rs41298442EnsemblClinVar.1
Natural variantiVAR_002649234F → S in DRD. 1 Publication1
Natural variantiVAR_016906241R → W in DRD. 1 PublicationCorresponds to variant dbSNP:rs1375209791Ensembl.1
Natural variantiVAR_016907249R → S in DRD. 1 PublicationCorresponds to variant dbSNP:rs104894442EnsemblClinVar.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_001610210 – 250Missing in isoform GCH-3. 1 PublicationAdd BLAST41
Alternative sequenceiVSP_001611210 – 233HMCMV…TMLGV → KSNKYNKGLSPLLSSCHLFV AILK in isoform GCH-4. 1 PublicationAdd BLAST24
Alternative sequenceiVSP_001612210 – 213HMCM → SAEP in isoform GCH-2. 2 Publications4
Alternative sequenceiVSP_001613214 – 250Missing in isoform GCH-2. 2 PublicationsAdd BLAST37
Alternative sequenceiVSP_001614234 – 250Missing in isoform GCH-4. 1 PublicationAdd BLAST17

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
S44049 mRNA Translation: AAB23164.1
S44053 mRNA Translation: AAB23165.1
S43856 mRNA Translation: AAB23166.1
Z29433 mRNA Translation: CAB77391.1
Z29434 mRNA Translation: CAB77392.1
U19523 mRNA Translation: AAB16861.1
U66095 mRNA Translation: AAD38866.1
U66097 mRNA Translation: AAD38868.1
CR536551 mRNA Translation: CAG38788.1
CH471061 Genomic DNA Translation: EAW80647.1
BC025415 mRNA Translation: AAH25415.1
L29478 Genomic DNA Translation: AAB42186.1
Z30952 Genomic DNA Translation: CAA83213.1
Z16418 mRNA Translation: CAA78908.1
U19259 U19258 Genomic DNA Translation: AAB60633.1

The Consensus CDS (CCDS) project

More...CCDSi		CCDS41954.1 [P30793-4]
CCDS45110.1 [P30793-2]
CCDS9720.1 [P30793-1]

Protein sequence database of the Protein Information Resource

More...PIRi		G01630, PC1117
JC1225

NCBI Reference Sequences

More...RefSeqi		NP_000152.1, NM_000161.2 [P30793-1]
NP_001019195.1, NM_001024024.1 [P30793-1]
NP_001019241.1, NM_001024070.1 [P30793-4]
NP_001019242.1, NM_001024071.1 [P30793-2]

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...Ensembli		ENST00000395514.5; ENSP00000378890.1; ENSG00000131979.20
ENST00000491895.7; ENSP00000419045.2; ENSG00000131979.20
ENST00000536224.2; ENSP00000445246.2; ENSG00000131979.20 [P30793-2]
ENST00000543643.6; ENSP00000444011.2; ENSG00000131979.20 [P30793-4]

Database of genes from NCBI RefSeq genomes

More...GeneIDi		2643

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...KEGGi		hsa:2643

Matched Annotation from NCBI and EMBL-EBI (MANE) - Phase one

More...MANE-Selecti		ENST00000491895.7; ENSP00000419045.2; NM_000161.3; NP_000152.1

UCSC genome browser

More...UCSCi		uc001xbh.2, human [P30793-1]

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
S44049 mRNA Translation: AAB23164.1
S44053 mRNA Translation: AAB23165.1
S43856 mRNA Translation: AAB23166.1
Z29433 mRNA Translation: CAB77391.1
Z29434 mRNA Translation: CAB77392.1
U19523 mRNA Translation: AAB16861.1
U66095 mRNA Translation: AAD38866.1
U66097 mRNA Translation: AAD38868.1
CR536551 mRNA Translation: CAG38788.1
CH471061 Genomic DNA Translation: EAW80647.1
BC025415 mRNA Translation: AAH25415.1
L29478 Genomic DNA Translation: AAB42186.1
Z30952 Genomic DNA Translation: CAA83213.1
Z16418 mRNA Translation: CAA78908.1
U19259 U19258 Genomic DNA Translation: AAB60633.1
CCDSiCCDS41954.1 [P30793-4]
CCDS45110.1 [P30793-2]
CCDS9720.1 [P30793-1]
PIRiG01630, PC1117
JC1225
RefSeqiNP_000152.1, NM_000161.2 [P30793-1]
NP_001019195.1, NM_001024024.1 [P30793-1]
NP_001019241.1, NM_001024070.1 [P30793-4]
NP_001019242.1, NM_001024071.1 [P30793-2]

3D structure databases

Select the link destinations:

Protein Data Bank Europe

More...PDBei

Protein Data Bank RCSB

More...RCSB PDBi

Protein Data Bank Japan

More...PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
1FB1X-ray3.10A/B/C/D/E55-250[»]
6Z80electron microscopy3.00A/B/C/D/E/F/G/H/I/J41-250[»]
6Z85electron microscopy2.90A/B/C/D/E/F/G/H/I/J41-250[»]
6Z86X-ray2.21A/B/C/D/E/F/G/H/I/J/K/L/M/N/O/P/Q/R/S/T41-250[»]
6Z87X-ray2.56A/B/C/D/E41-250[»]
6Z88X-ray2.69A/B/C/D/E/F/G/H/I/J41-250[»]
6Z89X-ray2.37A/B/C/D/E41-250[»]
7ALAX-ray1.85A/B/C/D/E42-250[»]
7ALBX-ray1.98A/B/C/D/E/F/G/H/I/J/K/L/M/N/O/P/Q/R/S/T42-250[»]
7ALCX-ray1.73A/B/C/D/E42-250[»]
7ALQX-ray2.21A/B/C/D/E/F/G/H/I/J/K/L/M/N/O/P/Q/R/S/T42-250[»]
AlphaFoldDBiP30793
SMRiP30793
ModBaseiSearch...
PDBe-KBiSearch...

Protein-protein interaction databases

BioGRIDi108913, 68 interactors
IntActiP30793, 33 interactors
MINTiP30793
STRINGi9606.ENSP00000419045

Chemistry databases

DrugBankiDB02377, Guanine

PTM databases

iPTMnetiP30793
PhosphoSitePlusiP30793

Genetic variation databases

BioMutaiGCH1
DMDMi399536

Proteomic databases

EPDiP30793
MassIVEiP30793
MaxQBiP30793
PaxDbiP30793
PeptideAtlasiP30793
PRIDEiP30793
ProteomicsDBi54735 [P30793-1]
54736 [P30793-2]
54737 [P30793-3]
54738 [P30793-4]

Protocols and materials databases

Antibodypedia a portal for validated antibodies

More...Antibodypediai		23963, 330 antibodies from 35 providers

The DNASU plasmid repository

More...DNASUi		2643

Genome annotation databases

EnsembliENST00000395514.5; ENSP00000378890.1; ENSG00000131979.20
ENST00000491895.7; ENSP00000419045.2; ENSG00000131979.20
ENST00000536224.2; ENSP00000445246.2; ENSG00000131979.20 [P30793-2]
ENST00000543643.6; ENSP00000444011.2; ENSG00000131979.20 [P30793-4]
GeneIDi2643
KEGGihsa:2643
MANE-SelectiENST00000491895.7; ENSP00000419045.2; NM_000161.3; NP_000152.1
UCSCiuc001xbh.2, human [P30793-1]

Organism-specific databases

Comparative Toxicogenomics Database

More...CTDi		2643
DisGeNETi2643

GeneCards: human genes, protein and diseases

More...GeneCardsi		GCH1
GeneReviewsiGCH1
HGNCiHGNC:4193, GCH1
HPAiENSG00000131979, Tissue enhanced (bone marrow, liver)
MalaCardsiGCH1
MIMi128230, phenotype
233910, phenotype
600225, gene
neXtProtiNX_P30793
OpenTargetsiENSG00000131979
Orphaneti98808, Autosomal dominant dopa-responsive dystonia
2102, GTP cyclohydrolase I deficiency
PharmGKBiPA28608
VEuPathDBiHostDB:ENSG00000131979

GenAtlas: human gene database

More...GenAtlasi		Search...

Phylogenomic databases

eggNOGiKOG2698, Eukaryota
GeneTreeiENSGT00390000013481
HOGENOMiCLU_049768_1_3_1
InParanoidiP30793
OMAiCEHMCMS
PhylomeDBiP30793
TreeFamiTF105616

Enzyme and pathway databases

UniPathwayiUPA00848;UER00151
BRENDAi3.5.4.16, 2681
PathwayCommonsiP30793
ReactomeiR-HSA-1474151, Tetrahydrobiopterin (BH4) synthesis, recycling, salvage and regulation
SABIO-RKiP30793
SignaLinkiP30793
SIGNORiP30793

Miscellaneous databases

BioGRID ORCS database of CRISPR phenotype screens

More...BioGRID-ORCSi		2643, 14 hits in 1092 CRISPR screens

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

More...ChiTaRSi		GCH1, human
EvolutionaryTraceiP30793

The Gene Wiki collection of pages on human genes and proteins

More...GeneWikii		GTP_cyclohydrolase_I

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

More...GenomeRNAii		2643
PharosiP30793, Tbio

Protein Ontology

More...PROi		PR:P30793
RNActiP30793, protein

The Stanford Online Universal Resource for Clones and ESTs

More...SOURCEi		Search...

Gene expression databases

BgeeiENSG00000131979, Expressed in secondary oocyte and 215 other tissues
ExpressionAtlasiP30793, baseline and differential
GenevisibleiP30793, HS

Family and domain databases

Gene3Di1.10.286.10, 1 hit
3.30.1130.10, 1 hit
HAMAPiMF_00223, FolE, 1 hit
InterProiView protein in InterPro
IPR043133, GTP-CH-I_C/QueF
IPR043134, GTP-CH-I_N
IPR001474, GTP_CycHdrlase_I
IPR018234, GTP_CycHdrlase_I_CS
IPR020602, GTP_CycHdrlase_I_dom
PANTHERiPTHR11109, PTHR11109, 1 hit
PfamiView protein in Pfam
PF01227, GTP_cyclohydroI, 1 hit
TIGRFAMsiTIGR00063, folE, 1 hit
PROSITEiView protein in PROSITE
PS00859, GTP_CYCLOHYDROL_1_1, 1 hit
PS00860, GTP_CYCLOHYDROL_1_2, 1 hit

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 nameiGCH1_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: P30793
Secondary accession number(s): Q6FHY7, Q9Y4I8
<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 1, 1993
Last sequence update: July 1, 1993
Last modified: May 25, 2022
This is version 217 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

3D-structure, Reference proteome

Documents

  1. Human chromosome 14
    Human chromosome 14: entries, gene names and cross-references to MIM
  2. Human entries with genetic variants
    List of human entries with genetic variants
  3. Human variants curated from literature reports
    Index of human variants curated from literature reports
  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
  7. SIMILARITY comments
    Index of protein domains and families
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