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Entry version 199 (29 Sep 2021)
Sequence version 2 (01 Mar 2005)
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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 <a href="http://www.uniprot.org/help/function_section">Function</a> section describes regulatory mechanisms for enzymes, transporters or microbial transcription factors, and reports the components which regulate (by activation or inhibition) the reaction.<p><a href='/help/activity_regulation' target='_top'>More...</a></p>Activity regulationi

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. 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 <a href="http://www.uniprot.org/help/function_section">Function</a> section describes the interaction between a single amino acid and another chemical entity. Priority is given to the annotation of physiological ligands.<p><a href='/help/binding' target='_top'>More...</a></p>Binding sitei34NADP; via carbonyl oxygen1 Publication1
Binding sitei56NADP1 Publication1

Regions

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/function_section">Function</a> 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

Pathway Commons web resource for biological pathway data

More...
PathwayCommonsi
P32322

Reactome - a knowledgebase of biological pathways and processes

More...
Reactomei
R-HSA-8964539, Glutamate and glutamine metabolism

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

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

Eukaryotic Pathogen, Vector and Host Database Resources

More...
VEuPathDBi
HostDB:ENSG00000183010

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

Keywords - Cellular componenti

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 variants 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.
Related information in OMIM
Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Sequence' section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_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 variants 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.
Related information in OMIM
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 variant

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

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...
Pharosi
P32322, Tbio

Chemistry databases

ChEMBL database of bioactive drug-like small molecules

More...
ChEMBLi
CHEMBL4296002

Drug and drug target database

More...
DrugBanki
DB00157, NADH
DB00172, Proline

Genetic variation 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 or proteolytic cleavage.<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

jPOST - Japan Proteome Standard Repository/Database

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jPOSTi
P32322

MassIVE - Mass Spectrometry Interactive Virtual Environment

More...
MassIVEi
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: a multi-organism proteome resource

More...
ProteomicsDBi
1058
4639
54872 [P32322-1]

Consortium for Top Down Proteomics

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

PTM databases

GlyGen: Computational and Informatics Resources for Glycoscience

More...
GlyGeni
P32322, 1 site, 1 O-linked glycan (1 site)

iPTMnet integrated resource for PTMs in systems biology context

More...
iPTMneti
P32322

MetOSite database of methionine sulfoxide sites

More...
MetOSitei
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 pancreas and 202 other tissues

ExpressionAtlas, Differential and Baseline Expression

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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
ENSG00000183010, Group enriched (pancreas, salivary gland, stomach)

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

Hide details

GO - Molecular functioni

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGRID)

More...
BioGRIDi
111789, 152 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, 56 interactors

Molecular INTeraction database

More...
MINTi
P32322

STRING: functional protein association networks

More...
STRINGi
9606.ENSP00000384949

Chemistry databases

BindingDB database of measured binding affinities

More...
BindingDBi
P32322

Miscellaneous databases

RNAct, Protein-RNA interaction predictions for model organisms.

More...
RNActi
P32322, protein

<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei

Secondary structure

1319
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details

3D structure databases

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

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SMRi
P32322

Database of comparative protein structure models

More...
ModBasei
Search...

Protein Data Bank in Europe - Knowledge Base

More...
PDBe-KBi
Search...

Miscellaneous databases

Relative evolutionary importance of amino acids within a protein sequence

More...
EvolutionaryTracei
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

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Family and Domains' section describes a region of interest that cannot be described in other subsections.<p><a href='/help/region' target='_top'>More...</a></p>Regioni294 – 319DisorderedSequence analysisAdd BLAST26

<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

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eggNOGi
KOG3124, Eukaryota

Ensembl GeneTree

More...
GeneTreei
ENSGT00950000183044

InParanoid: Eukaryotic Ortholog Groups

More...
InParanoidi
P32322

Database of Orthologous Groups

More...
OrthoDBi
952695at2759

Database for complete collections of gene phylogenies

More...
PhylomeDBi
P32322

Family and domain databases

HAMAP database of protein families

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HAMAPi
MF_01925, P5C_reductase, 1 hit

Integrated resource of protein families, domains and functional sites

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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

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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>. The information is filed in different subsections. The current subsections and their content are listed below:<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequences (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 <div> <p><b>What is the canonical sequence?</b><p><a href='/help/canonical_and_isoforms' target='_top'>More...</a></p>canonicali sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide
        10         20         30         40         50
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

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
E2QRB3E2QRB3_HUMAN
Pyrroline-5-carboxylate reductase
PYCR1 hCG_38803
288Annotation 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>
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>
J3QL24J3QL24_HUMAN
Pyrroline-5-carboxylate reductase
PYCR1
225Annotation 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>
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>
J3KSA9J3KSA9_HUMAN
Pyrroline-5-carboxylate reductase 1...
PYCR1
109Annotation 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>
J3QLK9J3QLK9_HUMAN
Pyrroline-5-carboxylate reductase 1...
PYCR1
165Annotation 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>
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.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.<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]

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

<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]

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[»]
6XOZX-ray2.35A/B/C/D/E1-300[»]
6XP0X-ray1.95A/B/C/D/E1-300[»]
6XP1X-ray1.75A/B/C/D/E1-300[»]
6XP2X-ray2.30A/B/C/D/E1-300[»]
6XP3X-ray1.93A/B/C/D/E1-300[»]
SMRiP32322
ModBaseiSearch...
PDBe-KBiSearch...

Protein-protein interaction databases

BioGRIDi111789, 152 interactors
ComplexPortaliCPX-2085, Pyrroline-5-carboxylate reductase 1 complex
IntActiP32322, 56 interactors
MINTiP32322
STRINGi9606.ENSP00000384949

Chemistry databases

BindingDBiP32322
ChEMBLiCHEMBL4296002
DrugBankiDB00157, NADH
DB00172, Proline

PTM databases

GlyGeniP32322, 1 site, 1 O-linked glycan (1 site)
iPTMnetiP32322
MetOSiteiP32322
PhosphoSitePlusiP32322
SwissPalmiP32322

Genetic variation databases

BioMutaiPYCR1
DMDMi60416434

Proteomic databases

EPDiP32322
jPOSTiP32322
MassIVEiP32322
MaxQBiP32322
PaxDbiP32322
PeptideAtlasiP32322
PRIDEiP32322
ProteomicsDBi1058
4639
54872 [P32322-1]
TopDownProteomicsiP32322-1 [P32322-1]

Protocols and materials databases

Antibodypedia a portal for validated antibodies

More...
Antibodypediai
32938, 241 antibodies

The DNASU plasmid repository

More...
DNASUi
5831

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

GeneCards: human genes, protein and diseases

More...
GeneCardsi
PYCR1
HGNCiHGNC:9721, PYCR1
HPAiENSG00000183010, Group enriched (pancreas, salivary gland, stomach)
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
VEuPathDBiHostDB:ENSG00000183010

GenAtlas: human gene database

More...
GenAtlasi
Search...

Phylogenomic databases

eggNOGiKOG3124, Eukaryota
GeneTreeiENSGT00950000183044
InParanoidiP32322
OrthoDBi952695at2759
PhylomeDBiP32322

Enzyme and pathway databases

UniPathwayiUPA00098;UER00361
BioCyciMetaCyc:HS06848-MONOMER
BRENDAi1.5.1.2, 2681
PathwayCommonsiP32322
ReactomeiR-HSA-8964539, Glutamate and glutamine metabolism
SABIO-RKiP32322

Miscellaneous databases

BioGRID ORCS database of CRISPR phenotype screens

More...
BioGRID-ORCSi
5831, 16 hits in 1017 CRISPR screens

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
PharosiP32322, Tbio

Protein Ontology

More...
PROi
PR:P32322
RNActiP32322, protein

The Stanford Online Universal Resource for Clones and ESTs

More...
SOURCEi
Search...

Gene expression databases

BgeeiENSG00000183010, Expressed in pancreas and 202 other tissues
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

MobiDB: a database of protein disorder and mobility annotations

More...
MobiDBi
Search...

<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

<p>This subsection of the 'Entry information' section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.<p><a href='/help/entry_name' target='_top'>More...</a></p>Entry 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: September 29, 2021
This is version 199 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, Direct protein sequencing, Reference proteome

Documents

  1. Human chromosome 17
    Human chromosome 17: entries, gene names and cross-references to MIM
  2. Human entries with genetic variants
    List of human entries with genetic variants
  3. Human variants curated from literature reports
    Index of human variants curated from literature reports
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. PATHWAY comments
    Index of metabolic and biosynthesis pathways
  6. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  7. SIMILARITY comments
    Index of protein domains and families
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