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Protein

Pyrroline-5-carboxylate reductase 1, mitochondrial

Gene

PYCR1

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

Housekeeping enzyme that catalyzes the last step in proline biosynthesis. Can utilize both NAD and NADP, but has higher affinity for NAD. Involved in the cellular response to oxidative stress.2 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

Subject to competitive inhibition by the reaction product proline. Subject to competitive inhibition by stearoyl coenzyme A.1 Publication

<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=0.151 mM for NAD+1 Publication
  2. KM=3.06 mM for NADP+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: L-proline biosynthesis

    This protein is involved in step 1 of the subpathway that synthesizes L-proline from L-glutamate 5-semialdehyde.
    Proteins known to be involved in this subpathway in this organism are:
    1. Pyrroline-5-carboxylate reductase, Pyrroline-5-carboxylate reductase (PYCR1), Pyrroline-5-carboxylate reductase (PYCR3), Pyrroline-5-carboxylate reductase (PYCR2), Pyrroline-5-carboxylate reductase (PYCR1), Pyrroline-5-carboxylate reductase, Pyrroline-5-carboxylate reductase (PYCR2), Pyrroline-5-carboxylate reductase (PYCRL), Pyrroline-5-carboxylate reductase (P5CR2), Pyrroline-5-carboxylate reductase (PYCR1), Pyrroline-5-carboxylate reductase (PYCR1), Pyrroline-5-carboxylate reductase (PYCR2), Pyrroline-5-carboxylate reductase 2 (PYCR2), Pyrroline-5-carboxylate reductase 3 (PYCR3), Pyrroline-5-carboxylate reductase 1, mitochondrial (PYCR1)
    This subpathway is part of the pathway L-proline biosynthesis, which is itself part of Amino-acid biosynthesis.
    View all proteins of this organism that are known to be involved in the subpathway that synthesizes L-proline from L-glutamate 5-semialdehyde, the pathway L-proline biosynthesis and in Amino-acid biosynthesis.

    Sites

    Feature keyPosition(s)DescriptionActionsGraphical viewLength
    <p>This subsection of the ‘Function’ section describes the interaction between a single amino acid and another chemical entity. Priority is given to the annotation of physiological ligands.<p><a href='/help/binding' target='_top'>More...</a></p>Binding sitei34NADP; via carbonyl oxygen1 Publication1
    Binding sitei56NADP1 Publication1

    Regions

    Feature keyPosition(s)DescriptionActionsGraphical viewLength
    <p>This subsection of the ‘Function’ section describes a region in the protein which binds nucleotide phosphates. It always involves more than one amino acid and includes all residues involved in nucleotide-binding.<p><a href='/help/np_bind' target='_top'>More...</a></p>Nucleotide bindingi6 – 11NADP1 Publication6
    Nucleotide bindingi69 – 72NADP1 Publication4
    Nucleotide bindingi95 – 97NADP1 Publication3

    <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

    • identical protein binding Source: IntAct
    • pyrroline-5-carboxylate reductase activity Source: UniProtKB

    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 functionOxidoreductase
    Biological processAmino-acid biosynthesis, Proline biosynthesis, Stress response
    LigandNADP

    Enzyme and pathway databases

    BioCyc Collection of Pathway/Genome Databases

    More...
    BioCyci
    MetaCyc:HS06848-MONOMER

    BRENDA Comprehensive Enzyme Information System

    More...
    BRENDAi
    1.5.1.2 2681

    Reactome - a knowledgebase of biological pathways and processes

    More...
    Reactomei
    R-HSA-70614 Amino acid synthesis and interconversion (transamination)

    SABIO-RK: Biochemical Reaction Kinetics Database

    More...
    SABIO-RKi
    P32322

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

    More...
    UniPathwayi
    UPA00098;UER00361

    <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:
    Pyrroline-5-carboxylate reductase 1, mitochondrial (EC:1.5.1.21 Publication)
    Short name:
    P5C reductase 1
    Short name:
    P5CR 1
    <p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: ‘Name’, ‘Synonyms’, ‘Ordered locus names’ and ‘ORF names’.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi
    Name:PYCR1
    <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 17

    Organism-specific databases

    Eukaryotic Pathogen Database Resources

    More...
    EuPathDBi
    HostDB:ENSG00000183010.16

    Human Gene Nomenclature Database

    More...
    HGNCi
    HGNC:9721 PYCR1

    Online Mendelian Inheritance in Man (OMIM)

    More...
    MIMi
    179035 gene

    neXtProt; the human protein knowledge platform

    More...
    neXtProti
    NX_P32322

    <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

    Mitochondrion

    <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

    Cutis laxa, autosomal recessive, 2B (ARCL2B)2 Publications
    The disease is caused by mutations affecting the gene represented in this entry.
    Disease descriptionA disorder characterized by an excessive congenital skin wrinkling, a large fontanelle with delayed closure, a typical facial appearance with downslanting palpebral fissures, a general connective tissue weakness, and varying degrees of growth and developmental delay and neurological abnormalities. Patients do not manifest metabolic abnormalities.
    See also OMIM:612940
    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_059068119R → G in ARCL2B. 1 PublicationCorresponds to variant dbSNP:rs121918376EnsemblClinVar.1
    Natural variantiVAR_059069119R → H in ARCL2B. 1 PublicationCorresponds to variant dbSNP:rs121918377EnsemblClinVar.1
    Natural variantiVAR_059070179A → T in ARCL2B. 1 PublicationCorresponds to variant dbSNP:rs139751598EnsemblClinVar.1
    Natural variantiVAR_059072206G → R in ARCL2B. 1 PublicationCorresponds to variant dbSNP:rs121918375EnsemblClinVar.1
    Natural variantiVAR_059073206G → W in ARCL2B. 1 PublicationCorresponds to variant dbSNP:rs121918375EnsemblClinVar.1
    Natural variantiVAR_059076266R → Q in ARCL2B; may cause skipping of exon 6. 1 PublicationCorresponds to variant dbSNP:rs121918374EnsemblClinVar.1
    Cutis laxa, autosomal recessive, 3B (ARCL3B)2 Publications
    The disease is caused by mutations affecting the gene represented in this entry.
    Disease descriptionA disorder characterized by an aged appearance with distinctive facial features, sparse hair, ophthalmologic abnormalities, intrauterine growth retardation, and cutis laxa.
    See also OMIM:614438
    Feature keyPosition(s)DescriptionActionsGraphical viewLength
    Natural variantiVAR_067600248G → E in ARCL3B; results in a reduction of protein expression in skin fibroblasts from the patient. 1 PublicationCorresponds to variant dbSNP:rs281875319EnsemblClinVar.1
    Natural variantiVAR_059074251R → H in ARCL3B. 1 PublicationCorresponds to variant dbSNP:rs121918378EnsemblClinVar.1
    Natural variantiVAR_059075257A → T in ARCL3B. 1 PublicationCorresponds to variant dbSNP:rs281875318EnsemblClinVar.1

    Mutagenesis

    Feature keyPosition(s)DescriptionActionsGraphical viewLength
    <p>This subsection of the <a href="http://www.uniprot.org/manual/pathology_and_biotech_section">'Pathology and Biotech'</a> section describes the effect of the experimental mutation of one or more amino acid(s) on the biological properties of the protein.<p><a href='/help/mutagen' target='_top'>More...</a></p>Mutagenesisi221E → A: Reduced enzyme activity. 1 Publication1

    Keywords - Diseasei

    Disease mutation

    Organism-specific databases

    DisGeNET

    More...
    DisGeNETi
    5831

    MalaCards human disease database

    More...
    MalaCardsi
    PYCR1
    MIMi612940 phenotype
    614438 phenotype

    Open Targets

    More...
    OpenTargetsi
    ENSG00000183010

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

    More...
    Orphaneti
    357064 Autosomal recessive cutis laxa type 2B
    2078 Geroderma osteodysplastica
    293633 PYCR1-related De Barsy syndrome

    The Pharmacogenetics and Pharmacogenomics Knowledge Base

    More...
    PharmGKBi
    PA34064

    Chemistry databases

    Drug and drug target database

    More...
    DrugBanki
    DB00172 L-Proline
    DB00157 NADH

    Polymorphism and mutation databases

    BioMuta curated single-nucleotide variation and disease association database

    More...
    BioMutai
    PYCR1

    Domain mapping of disease mutations (DMDM)

    More...
    DMDMi
    60416434

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

    Molecule processing

    Feature keyPosition(s)DescriptionActionsGraphical viewLength
    <p>This subsection of the <a href="http://www.uniprot.org/help/ptm_processing_section">PTM / Processing</a> section indicates that the initiator methionine is cleaved from the mature protein.<p><a href='/help/init_met' target='_top'>More...</a></p>Initiator methionineiRemovedCombined sources2 Publications
    <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_00001873142 – 319Pyrroline-5-carboxylate reductase 1, mitochondrialAdd BLAST318

    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 residuei2N-acetylserineCombined sources2 Publications1
    Modified residuei278PhosphoserineCombined sources1
    Modified residuei301PhosphoserineCombined sources1

    Keywords - PTMi

    Acetylation, Phosphoprotein

    Proteomic databases

    Encyclopedia of Proteome Dynamics

    More...
    EPDi
    P32322

    MaxQB - The MaxQuant DataBase

    More...
    MaxQBi
    P32322

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

    More...
    PaxDbi
    P32322

    PeptideAtlas

    More...
    PeptideAtlasi
    P32322

    PRoteomics IDEntifications database

    More...
    PRIDEi
    P32322

    ProteomicsDB human proteome resource

    More...
    ProteomicsDBi
    54872

    Consortium for Top Down Proteomics

    More...
    TopDownProteomicsi
    P32322-1 [P32322-1]

    PTM databases

    iPTMnet integrated resource for PTMs in systems biology context

    More...
    iPTMneti
    P32322

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

    More...
    PhosphoSitePlusi
    P32322

    SwissPalm database of S-palmitoylation events

    More...
    SwissPalmi
    P32322

    <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

    Gene expression databases

    Bgee dataBase for Gene Expression Evolution

    More...
    Bgeei
    ENSG00000183010 Expressed in 185 organ(s), highest expression level in body of pancreas

    CleanEx database of gene expression profiles

    More...
    CleanExi
    HS_PYCR1

    ExpressionAtlas, Differential and Baseline Expression

    More...
    ExpressionAtlasi
    P32322 baseline and differential

    Genevisible search portal to normalized and curated expression data from Genevestigator

    More...
    Genevisiblei
    P32322 HS

    Organism-specific databases

    Human Protein Atlas

    More...
    HPAi
    HPA047660

    <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

    Homodecamer; composed of 5 homodimers (PubMed:16730026, Ref. 18). Interacts with LTO1 (PubMed:24930674).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
    111789, 34 interactors

    ComplexPortal: manually curated resource of macromolecular complexes

    More...
    ComplexPortali
    CPX-2085 Pyrroline-5-carboxylate reductase 1 complex

    Protein interaction database and analysis system

    More...
    IntActi
    P32322, 34 interactors

    Molecular INTeraction database

    More...
    MINTi
    P32322

    STRING: functional protein association networks

    More...
    STRINGi
    9606.ENSP00000328858

    <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

    1319
    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
    P32322

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

    More...
    SMRi
    P32322

    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
    P32322

    <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

    Phylogenomic databases

    evolutionary genealogy of genes: Non-supervised Orthologous Groups

    More...
    eggNOGi
    KOG3124 Eukaryota
    COG0345 LUCA

    Ensembl GeneTree

    More...
    GeneTreei
    ENSGT00940000154176

    The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

    More...
    HOGENOMi
    HOG000230247

    The HOVERGEN Database of Homologous Vertebrate Genes

    More...
    HOVERGENi
    HBG053399

    InParanoid: Eukaryotic Ortholog Groups

    More...
    InParanoidi
    P32322

    KEGG Orthology (KO)

    More...
    KOi
    K00286

    Identification of Orthologs from Complete Genome Data

    More...
    OMAi
    FYFIEAM

    Database of Orthologous Groups

    More...
    OrthoDBi
    EOG091G0KMI

    Database for complete collections of gene phylogenies

    More...
    PhylomeDBi
    P32322

    Family and domain databases

    HAMAP database of protein families

    More...
    HAMAPi
    MF_01925 P5C_reductase, 1 hit

    Integrated resource of protein families, domains and functional sites

    More...
    InterProi
    View protein in InterPro
    IPR008927 6-PGluconate_DH-like_C_sf
    IPR036291 NAD(P)-bd_dom_sf
    IPR028939 P5C_Rdtase_cat_N
    IPR029036 P5CR_dimer
    IPR000304 Pyrroline-COOH_reductase

    Pfam protein domain database

    More...
    Pfami
    View protein in Pfam
    PF03807 F420_oxidored, 1 hit
    PF14748 P5CR_dimer, 1 hit

    PIRSF; a whole-protein classification database

    More...
    PIRSFi
    PIRSF000193 Pyrrol-5-carb_rd, 1 hit

    Superfamily database of structural and functional annotation

    More...
    SUPFAMi
    SSF48179 SSF48179, 1 hit
    SSF51735 SSF51735, 1 hit

    TIGRFAMs; a protein family database

    More...
    TIGRFAMsi
    TIGR00112 proC, 1 hit

    PROSITE; a protein domain and family database

    More...
    PROSITEi
    View protein in PROSITE
    PS00521 P5CR, 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 (3+)i

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

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

    This entry describes 3 <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

    This entry has 3 described isoforms and 12 potential isoforms that are computationally mapped.Show allAlign All

    Isoform 1 (identifier: P32322-1) [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
    MSVGFIGAGQ LAFALAKGFT AAGVLAAHKI MASSPDMDLA TVSALRKMGV
    60 70 80 90 100
    KLTPHNKETV QHSDVLFLAV KPHIIPFILD EIGADIEDRH IVVSCAAGVT
    110 120 130 140 150
    ISSIEKKLSA FRPAPRVIRC MTNTPVVVRE GATVYATGTH AQVEDGRLME
    160 170 180 190 200
    QLLSSVGFCT EVEEDLIDAV TGLSGSGPAY AFTALDALAD GGVKMGLPRR
    210 220 230 240 250
    LAVRLGAQAL LGAAKMLLHS EQHPGQLKDN VSSPGGATIH ALHVLESGGF
    260 270 280 290 300
    RSLLINAVEA SCIRTRELQS MADQEQVSPA AIKKTILDKV KLDSPAGTAL
    310
    SPSGHTKLLP RSLAPAGKD
    Length:319
    Mass (Da):33,361
    Last modified:March 1, 2005 - v2
    <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:i9E8C4DED0638EFC5
    GO
    Isoform 2 (identifier: P32322-2) [UniParc]FASTAAdd to basket

    The sequence of this isoform differs from the canonical sequence as follows:
         290-319: VKLDSPAGTALSPSGHTKLLPRSLAPAGKD → DHLPLELGSPEGLHPLLLQYQLARAPS

    Show »
    Length:316
    Mass (Da):33,341
    Checksum:i65C247E391225ED6
    GO
    Isoform 3 (identifier: P32322-3) [UniParc]FASTAAdd to basket

    The sequence of this isoform differs from the canonical sequence as follows:
         1-1: M → MVGGGRRVGRDEPVPSVGALGQGSPDSM

    Note: No experimental confirmation available.
    Show »
    Length:346
    Mass (Da):35,981
    Checksum:i25E6A7FEBBB34A3E
    GO

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

    There are 12 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
    EntryEntry nameProtein names
    Gene namesLengthAnnotation
    J3QKT4J3QKT4_HUMAN
    Pyrroline-5-carboxylate reductase
    PYCR1
    242Annotation score:

    Annotation score:2 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>
    J3KQ22J3KQ22_HUMAN
    Pyrroline-5-carboxylate reductase
    PYCR1
    253Annotation score:

    Annotation score:2 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>
    E2QRB3E2QRB3_HUMAN
    Pyrroline-5-carboxylate reductase 1...
    PYCR1 hCG_38803
    288Annotation score:

    Annotation score:1 out of 5

    <p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
    J3QL24J3QL24_HUMAN
    Pyrroline-5-carboxylate reductase 1...
    PYCR1
    225Annotation score:

    Annotation score:1 out of 5

    <p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
    J3QL32J3QL32_HUMAN
    Pyrroline-5-carboxylate reductase 1...
    PYCR1 hCG_38803
    217Annotation score:

    Annotation score:1 out of 5

    <p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
    J3QR88J3QR88_HUMAN
    Pyrroline-5-carboxylate reductase 1...
    PYCR1
    132Annotation score:

    Annotation score:1 out of 5

    <p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
    J3QL23J3QL23_HUMAN
    Pyrroline-5-carboxylate reductase 1...
    PYCR1
    173Annotation score:

    Annotation score:1 out of 5

    <p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
    J3QRZ0J3QRZ0_HUMAN
    Pyrroline-5-carboxylate reductase 1...
    PYCR1
    115Annotation score:

    Annotation score:1 out of 5

    <p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
    J3KTA8J3KTA8_HUMAN
    Pyrroline-5-carboxylate reductase 1...
    PYCR1
    84Annotation score:

    Annotation score:1 out of 5

    <p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
    J3QKT3J3QKT3_HUMAN
    Pyrroline-5-carboxylate reductase 1...
    PYCR1
    94Annotation score:

    Annotation score:1 out of 5

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

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

    The sequence AAG17242 differs from that shown. Reason: Frameshift at position 214.Curated

    Experimental Info

    Feature keyPosition(s)DescriptionActionsGraphical viewLength
    <p>This subsection of the ‘Sequence’ section reports difference(s) between the canonical sequence (displayed by default in the entry) and the different sequence submissions merged in the entry. These various submissions may originate from different sequencing projects, different types of experiments, or different biological samples. Sequence conflicts are usually of unknown origin.<p><a href='/help/conflict' target='_top'>More...</a></p>Sequence conflicti155S → T in AAA36407 (PubMed:1730675).Curated1
    Sequence conflicti317G → S in CAG46568 (Ref. 4) Curated1

    Natural variant

    Feature keyPosition(s)DescriptionActionsGraphical viewLength
    Natural variantiVAR_059068119R → G in ARCL2B. 1 PublicationCorresponds to variant dbSNP:rs121918376EnsemblClinVar.1
    Natural variantiVAR_059069119R → H in ARCL2B. 1 PublicationCorresponds to variant dbSNP:rs121918377EnsemblClinVar.1
    Natural variantiVAR_059070179A → T in ARCL2B. 1 PublicationCorresponds to variant dbSNP:rs139751598EnsemblClinVar.1
    Natural variantiVAR_059071189A → V1 Publication1
    Natural variantiVAR_059072206G → R in ARCL2B. 1 PublicationCorresponds to variant dbSNP:rs121918375EnsemblClinVar.1
    Natural variantiVAR_059073206G → W in ARCL2B. 1 PublicationCorresponds to variant dbSNP:rs121918375EnsemblClinVar.1
    Natural variantiVAR_067600248G → E in ARCL3B; results in a reduction of protein expression in skin fibroblasts from the patient. 1 PublicationCorresponds to variant dbSNP:rs281875319EnsemblClinVar.1
    Natural variantiVAR_059074251R → H in ARCL3B. 1 PublicationCorresponds to variant dbSNP:rs121918378EnsemblClinVar.1
    Natural variantiVAR_059075257A → T in ARCL3B. 1 PublicationCorresponds to variant dbSNP:rs281875318EnsemblClinVar.1
    Natural variantiVAR_059076266R → Q in ARCL2B; may cause skipping of exon 6. 1 PublicationCorresponds to variant dbSNP:rs121918374EnsemblClinVar.1
    Natural variantiVAR_067601297G → R1 Publication1

    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_0546161M → MVGGGRRVGRDEPVPSVGAL GQGSPDSM in isoform 3. 1 Publication1
    Alternative sequenceiVSP_044507290 – 319VKLDS…PAGKD → DHLPLELGSPEGLHPLLLQY QLARAPS in isoform 2. 1 PublicationAdd BLAST30

    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
    M77836 mRNA Translation: AAA36407.1
    AF218000 mRNA Translation: AAG17242.1 Frameshift.
    AK297627 mRNA Translation: BAG60002.1
    CR541769 mRNA Translation: CAG46568.1
    AC145207 Genomic DNA No translation available.
    CH471099 Genomic DNA Translation: EAW89724.1
    BC001504 mRNA Translation: AAH01504.1
    BC071842 mRNA Translation: AAH71842.1

    The Consensus CDS (CCDS) project

    More...
    CCDSi
    CCDS11794.1 [P32322-2]
    CCDS11795.1 [P32322-1]
    CCDS62366.1 [P32322-3]

    Protein sequence database of the Protein Information Resource

    More...
    PIRi
    A41770

    NCBI Reference Sequences

    More...
    RefSeqi
    NP_001269209.1, NM_001282280.1 [P32322-1]
    NP_001269210.1, NM_001282281.1 [P32322-3]
    NP_008838.2, NM_006907.3 [P32322-1]
    NP_722546.1, NM_153824.2 [P32322-2]
    XP_005256438.1, XM_005256381.2 [P32322-1]
    XP_011521885.1, XM_011523583.2 [P32322-1]
    XP_011521886.1, XM_011523584.2 [P32322-1]

    UniGene gene-oriented nucleotide sequence clusters

    More...
    UniGenei
    Hs.163451

    Genome annotation databases

    Ensembl eukaryotic genome annotation project

    More...
    Ensembli
    ENST00000329875; ENSP00000328858; ENSG00000183010 [P32322-1]
    ENST00000337943; ENSP00000336579; ENSG00000183010 [P32322-2]
    ENST00000402252; ENSP00000384949; ENSG00000183010 [P32322-3]
    ENST00000619204; ENSP00000479793; ENSG00000183010 [P32322-1]

    Database of genes from NCBI RefSeq genomes

    More...
    GeneIDi
    5831

    KEGG: Kyoto Encyclopedia of Genes and Genomes

    More...
    KEGGi
    hsa:5831

    UCSC genome browser

    More...
    UCSCi
    uc002kcp.5 human [P32322-1]

    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

    <p>This subsection of the <a href="http://www.uniprot.org/manual/cross_references_section">Cross-references</a> section provides links to various web resources that are relevant for a specific protein.<p><a href='/help/web_resource' target='_top'>More...</a></p>Web resourcesi

    Mendelian genes pyrroline-5-carboxylate reductase 1 (PYCR1)

    Leiden Open Variation Database (LOVD)

    Sequence databases

    Select the link destinations:
    EMBLi
    GenBanki
    DDBJi
    Links Updated
    M77836 mRNA Translation: AAA36407.1
    AF218000 mRNA Translation: AAG17242.1 Frameshift.
    AK297627 mRNA Translation: BAG60002.1
    CR541769 mRNA Translation: CAG46568.1
    AC145207 Genomic DNA No translation available.
    CH471099 Genomic DNA Translation: EAW89724.1
    BC001504 mRNA Translation: AAH01504.1
    BC071842 mRNA Translation: AAH71842.1
    CCDSiCCDS11794.1 [P32322-2]
    CCDS11795.1 [P32322-1]
    CCDS62366.1 [P32322-3]
    PIRiA41770
    RefSeqiNP_001269209.1, NM_001282280.1 [P32322-1]
    NP_001269210.1, NM_001282281.1 [P32322-3]
    NP_008838.2, NM_006907.3 [P32322-1]
    NP_722546.1, NM_153824.2 [P32322-2]
    XP_005256438.1, XM_005256381.2 [P32322-1]
    XP_011521885.1, XM_011523583.2 [P32322-1]
    XP_011521886.1, XM_011523584.2 [P32322-1]
    UniGeneiHs.163451

    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
    2GERX-ray3.10A/B/C/D/E1-319[»]
    2GR9X-ray3.10A/B/C/D/E1-275[»]
    2GRAX-ray3.10A/B/C/D/E1-275[»]
    2IZZX-ray1.95A/B/C/D/E1-300[»]
    5UATX-ray1.92A/B/C/D/E1-300[»]
    5UAUX-ray1.90A/B/C/D/E1-300[»]
    5UAVX-ray1.85A/B/C/D/E1-300[»]
    5UAWX-ray1.85A/B/C/D/E1-300[»]
    5UAXX-ray1.85A/B/C/D/E1-270[»]
    ProteinModelPortaliP32322
    SMRiP32322
    ModBaseiSearch...
    MobiDBiSearch...

    Protein-protein interaction databases

    BioGridi111789, 34 interactors
    ComplexPortaliCPX-2085 Pyrroline-5-carboxylate reductase 1 complex
    IntActiP32322, 34 interactors
    MINTiP32322
    STRINGi9606.ENSP00000328858

    Chemistry databases

    DrugBankiDB00172 L-Proline
    DB00157 NADH

    PTM databases

    iPTMnetiP32322
    PhosphoSitePlusiP32322
    SwissPalmiP32322

    Polymorphism and mutation databases

    BioMutaiPYCR1
    DMDMi60416434

    Proteomic databases

    EPDiP32322
    MaxQBiP32322
    PaxDbiP32322
    PeptideAtlasiP32322
    PRIDEiP32322
    ProteomicsDBi54872
    TopDownProteomicsiP32322-1 [P32322-1]

    Protocols and materials databases

    The DNASU plasmid repository

    More...
    DNASUi
    5831
    Structural Biology KnowledgebaseSearch...

    Genome annotation databases

    EnsembliENST00000329875; ENSP00000328858; ENSG00000183010 [P32322-1]
    ENST00000337943; ENSP00000336579; ENSG00000183010 [P32322-2]
    ENST00000402252; ENSP00000384949; ENSG00000183010 [P32322-3]
    ENST00000619204; ENSP00000479793; ENSG00000183010 [P32322-1]
    GeneIDi5831
    KEGGihsa:5831
    UCSCiuc002kcp.5 human [P32322-1]

    Organism-specific databases

    Comparative Toxicogenomics Database

    More...
    CTDi
    5831
    DisGeNETi5831
    EuPathDBiHostDB:ENSG00000183010.16

    GeneCards: human genes, protein and diseases

    More...
    GeneCardsi
    PYCR1
    HGNCiHGNC:9721 PYCR1
    HPAiHPA047660
    MalaCardsiPYCR1
    MIMi179035 gene
    612940 phenotype
    614438 phenotype
    neXtProtiNX_P32322
    OpenTargetsiENSG00000183010
    Orphaneti357064 Autosomal recessive cutis laxa type 2B
    2078 Geroderma osteodysplastica
    293633 PYCR1-related De Barsy syndrome
    PharmGKBiPA34064

    GenAtlas: human gene database

    More...
    GenAtlasi
    Search...

    Phylogenomic databases

    eggNOGiKOG3124 Eukaryota
    COG0345 LUCA
    GeneTreeiENSGT00940000154176
    HOGENOMiHOG000230247
    HOVERGENiHBG053399
    InParanoidiP32322
    KOiK00286
    OMAiFYFIEAM
    OrthoDBiEOG091G0KMI
    PhylomeDBiP32322

    Enzyme and pathway databases

    UniPathwayi
    UPA00098;UER00361

    BioCyciMetaCyc:HS06848-MONOMER
    BRENDAi1.5.1.2 2681
    ReactomeiR-HSA-70614 Amino acid synthesis and interconversion (transamination)
    SABIO-RKiP32322

    Miscellaneous databases

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

    More...
    ChiTaRSi
    PYCR1 human
    EvolutionaryTraceiP32322

    The Gene Wiki collection of pages on human genes and proteins

    More...
    GeneWikii
    PYCR1

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

    More...
    GenomeRNAii
    5831

    Protein Ontology

    More...
    PROi
    PR:P32322

    The Stanford Online Universal Resource for Clones and ESTs

    More...
    SOURCEi
    Search...

    Gene expression databases

    BgeeiENSG00000183010 Expressed in 185 organ(s), highest expression level in body of pancreas
    CleanExiHS_PYCR1
    ExpressionAtlasiP32322 baseline and differential
    GenevisibleiP32322 HS

    Family and domain databases

    HAMAPiMF_01925 P5C_reductase, 1 hit
    InterProiView protein in InterPro
    IPR008927 6-PGluconate_DH-like_C_sf
    IPR036291 NAD(P)-bd_dom_sf
    IPR028939 P5C_Rdtase_cat_N
    IPR029036 P5CR_dimer
    IPR000304 Pyrroline-COOH_reductase
    PfamiView protein in Pfam
    PF03807 F420_oxidored, 1 hit
    PF14748 P5CR_dimer, 1 hit
    PIRSFiPIRSF000193 Pyrrol-5-carb_rd, 1 hit
    SUPFAMiSSF48179 SSF48179, 1 hit
    SSF51735 SSF51735, 1 hit
    TIGRFAMsiTIGR00112 proC, 1 hit
    PROSITEiView protein in PROSITE
    PS00521 P5CR, 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 nameiP5CR1_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: P32322
    Secondary accession number(s): A6NFM2
    , B4DMU0, Q6FHI4, Q96DI6, Q9HBQ4
    <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: October 1, 1993
    Last sequence update: March 1, 2005
    Last modified: December 5, 2018
    This is version 179 of the entry and version 2 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, Direct protein sequencing, 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 17
      Human chromosome 17: 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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