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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_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 ‘Function’ 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_section">'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
    Proteins known to be involved in this subpathway in this organism are:
    1. GTP cyclohydrolase 1 (GCH1)
    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 ‘Function’ 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

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

    Enzyme and pathway databases

    BioCyc Collection of Pathway/Genome Databases

    More...
    BioCyci
    MetaCyc:HS05586-MONOMER

    BRENDA Comprehensive Enzyme Information System

    More...
    BRENDAi
    3.5.4.16 2681

    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

    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_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:
    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_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:GCH1
    Synonyms:DYT5, GCH
    <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 14

    Organism-specific databases

    Eukaryotic Pathogen Database Resources

    More...
    EuPathDBi
    HostDB:ENSG00000131979.18

    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

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

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

    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 mutations 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.
    See also OMIM:233910
    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; compound heterozygote for an additional deletion. 1 PublicationCorresponds to variant dbSNP:rs104894434EnsemblClinVar.1
    Dystonia, dopa-responsive (DRD)15 Publications
    The disease is caused by mutations 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.
    See also OMIM:128230
    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 Publication1
    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 Publication1
    Natural variantiVAR_002649234F → S in DRD. 1 Publication1
    Natural variantiVAR_016906241R → W in DRD. 1 Publication1
    Natural variantiVAR_016907249R → S in DRD. 1 PublicationCorresponds to variant dbSNP:rs104894442EnsemblClinVar.1

    Keywords - Diseasei

    Disease mutation, 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

    Chemistry databases

    Drug and drug target database

    More...
    DrugBanki
    DB02377 Guanine
    DB02325 Isopropyl Alcohol

    Polymorphism and mutation 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.<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_processing_section">PTM/processing</a> section describes post-translational modifications (PTMs). This subsection <strong>complements</strong> the information provided at the sequence level or describes modifications for which <strong>position-specific data is not yet available</strong>.<p><a href='/help/post-translational_modification' target='_top'>More...</a></p>Post-translational modificationi

    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

    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 human proteome resource

    More...
    ProteomicsDBi
    54735
    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 203 organ(s), highest expression level in secondary oocyte

    CleanEx database of gene expression profiles

    More...
    CleanExi
    HS_GCH1

    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
    HPA028612

    <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

    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_section%27">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="http://www.ebi.ac.uk/intact/">IntAct database</a>. It is updated on a monthly basis. Each binary interaction is displayed on a separate line.<p><a href='/help/binary_interactions' target='_top'>More...</a></p>Binary interactionsi

    GO - Molecular functioni

    Protein-protein interaction databases

    The Biological General Repository for Interaction Datasets (BioGrid)

    More...
    BioGridi
    108913, 31 interactors

    Protein interaction database and analysis system

    More...
    IntActi
    P30793, 14 interactors

    Molecular INTeraction database

    More...
    MINTi
    P30793

    STRING: functional protein association networks

    More...
    STRINGi
    9606.ENSP00000378890

    <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

    Protein Model Portal of the PSI-Nature Structural Biology Knowledgebase

    More...
    ProteinModelPortali
    P30793

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

    More...
    SMRi
    P30793

    Database of comparative protein structure models

    More...
    ModBasei
    Search...

    MobiDB: a database of protein disorder and mobility annotations

    More...
    MobiDBi
    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

    <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
    COG0302 LUCA

    Ensembl GeneTree

    More...
    GeneTreei
    ENSGT00390000013481

    The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

    More...
    HOGENOMi
    HOG000221222

    The HOVERGEN Database of Homologous Vertebrate Genes

    More...
    HOVERGENi
    HBG003136

    InParanoid: Eukaryotic Ortholog Groups

    More...
    InParanoidi
    P30793

    KEGG Orthology (KO)

    More...
    KOi
    K01495

    Identification of Orthologs from Complete Genome Data

    More...
    OMAi
    PFMGKVH

    Database of Orthologous Groups

    More...
    OrthoDBi
    EOG091G0PCE

    Database for complete collections of gene phylogenies

    More...
    PhylomeDBi
    P30793

    TreeFam database of animal gene trees

    More...
    TreeFami
    TF105616

    Family and domain databases

    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
    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_length">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>.<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequences (4)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.

    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 'canonical' 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 Publication1
    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 Publication1
    Natural variantiVAR_016905221M → T in HPABH4B; intermediate phenotype presenting with dystonia and motor delay; compound heterozygote for an additional deletion. 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 Publication1
    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. The information stored in this subsection is used to automatically construct alternative protein sequence(s) for display.<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
    , U19256, U19257, 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]

    UniGene gene-oriented nucleotide sequence clusters

    More...
    UniGenei
    Hs.86724

    Genome annotation databases

    Ensembl eukaryotic genome annotation project

    More...
    Ensembli
    ENST00000395514; ENSP00000378890; ENSG00000131979 [P30793-1]
    ENST00000491895; ENSP00000419045; ENSG00000131979 [P30793-1]
    ENST00000536224; ENSP00000445246; ENSG00000131979 [P30793-2]
    ENST00000543643; ENSP00000444011; ENSG00000131979 [P30793-4]
    ENST00000622544; ENSP00000477796; ENSG00000131979 [P30793-1]

    Database of genes from NCBI RefSeq genomes

    More...
    GeneIDi
    2643

    KEGG: Kyoto Encyclopedia of Genes and Genomes

    More...
    KEGGi
    hsa:2643

    UCSC genome browser

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

    Keywords - Coding sequence diversityi

    Alternative splicing, 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
    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
    , U19256, U19257, 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]
    UniGeneiHs.86724

    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[»]
    ProteinModelPortaliP30793
    SMRiP30793
    ModBaseiSearch...
    MobiDBiSearch...

    Protein-protein interaction databases

    BioGridi108913, 31 interactors
    IntActiP30793, 14 interactors
    MINTiP30793
    STRINGi9606.ENSP00000378890

    Chemistry databases

    DrugBankiDB02377 Guanine
    DB02325 Isopropyl Alcohol

    PTM databases

    iPTMnetiP30793
    PhosphoSitePlusiP30793

    Polymorphism and mutation databases

    BioMutaiGCH1
    DMDMi399536

    Proteomic databases

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

    Protocols and materials databases

    The DNASU plasmid repository

    More...
    DNASUi
    2643
    Structural Biology KnowledgebaseSearch...

    Genome annotation databases

    EnsembliENST00000395514; ENSP00000378890; ENSG00000131979 [P30793-1]
    ENST00000491895; ENSP00000419045; ENSG00000131979 [P30793-1]
    ENST00000536224; ENSP00000445246; ENSG00000131979 [P30793-2]
    ENST00000543643; ENSP00000444011; ENSG00000131979 [P30793-4]
    ENST00000622544; ENSP00000477796; ENSG00000131979 [P30793-1]
    GeneIDi2643
    KEGGihsa:2643
    UCSCiuc001xbh.2 human [P30793-1]

    Organism-specific databases

    Comparative Toxicogenomics Database

    More...
    CTDi
    2643
    DisGeNETi2643
    EuPathDBiHostDB:ENSG00000131979.18

    GeneCards: human genes, protein and diseases

    More...
    GeneCardsi
    GCH1
    GeneReviewsiGCH1
    HGNCiHGNC:4193 GCH1
    HPAiHPA028612
    MalaCardsiGCH1
    MIMi128230 phenotype
    233910 phenotype
    600225 gene
    neXtProtiNX_P30793
    OpenTargetsiENSG00000131979
    Orphaneti98808 Autosomal dominant dopa-responsive dystonia
    2102 GTP cyclohydrolase I deficiency
    PharmGKBiPA28608

    GenAtlas: human gene database

    More...
    GenAtlasi
    Search...

    Phylogenomic databases

    eggNOGiKOG2698 Eukaryota
    COG0302 LUCA
    GeneTreeiENSGT00390000013481
    HOGENOMiHOG000221222
    HOVERGENiHBG003136
    InParanoidiP30793
    KOiK01495
    OMAiPFMGKVH
    OrthoDBiEOG091G0PCE
    PhylomeDBiP30793
    TreeFamiTF105616

    Enzyme and pathway databases

    UniPathwayi
    UPA00848;UER00151

    BioCyciMetaCyc:HS05586-MONOMER
    BRENDAi3.5.4.16 2681
    ReactomeiR-HSA-1474151 Tetrahydrobiopterin (BH4) synthesis, recycling, salvage and regulation
    SABIO-RKiP30793
    SIGNORiP30793

    Miscellaneous databases

    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

    Protein Ontology

    More...
    PROi
    PR:P30793

    The Stanford Online Universal Resource for Clones and ESTs

    More...
    SOURCEi
    Search...

    Gene expression databases

    BgeeiENSG00000131979 Expressed in 203 organ(s), highest expression level in secondary oocyte
    CleanExiHS_GCH1
    ExpressionAtlasiP30793 baseline and differential
    GenevisibleiP30793 HS

    Family and domain databases

    HAMAPiMF_00223 FolE, 1 hit
    InterProiView protein in InterPro
    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

    ProtoNet; Automatic hierarchical classification of proteins

    More...
    ProtoNeti
    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_and_isoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: July 1, 1993
    Last sequence update: July 1, 1993
    Last modified: December 5, 2018
    This is version 197 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, Complete proteome, Reference proteome

    Documents

    1. PDB cross-references
      Index of Protein Data Bank (PDB) cross-references
    2. SIMILARITY comments
      Index of protein domains and families
    3. Human chromosome 14
      Human chromosome 14: entries, gene names and cross-references to MIM
    4. Human polymorphisms and disease mutations
      Index of human polymorphisms and disease mutations
    5. PATHWAY comments
      Index of metabolic and biosynthesis pathways
    6. Human entries with polymorphisms or disease mutations
      List of human entries with polymorphisms or disease mutations
    7. MIM cross-references
      Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
    UniProt is an ELIXIR core data resource
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