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PYCR1 Gene

protein-coding   GIFtS: 67
GCID: GC17M079890

Pyrroline-5-Carboxylate Reductase 1

  See PYCR1-related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Pyrroline-5-Carboxylate Reductase 11 2     P5CR2
P5C Reductase 12 3     PIG452
EC 1.5.1.23 8     PP2222
ARCL2B2 5     PYCR2
ARCL3B2 5     Proliferation-Inducing Protein 452
PRO32 5     Pyrroline-5-Carboxylate Reductase 1, Mitochondrial2
P5C2     P5CR 13

External Ids:    HGNC: 97211   Entrez Gene: 58312   Ensembl: ENSG000001830107   OMIM: 1790355   UniProtKB: P323223   

Export aliases for PYCR1 gene to outside databases

Previous GC identifers: GC17P079270 GC17P9I0077 GC17M080426 GC17M080569 GC17M077463 GC17M077484 GC17M075291


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for PYCR1 Gene:
This gene encodes an enzyme that catalyzes the NAD(P)H-dependent conversion of pyrroline-5-carboxylate to proline.
This enzyme may also play a physiologic role in the generation of NADP(+) in some cell types. The protein forms a
homopolymer and localizes to the mitochondrion. Alternative splicing results in multiple transcript variants.
(provided by RefSeq, Aug 2013)

GeneCards Summary for PYCR1 Gene:
PYCR1 (pyrroline-5-carboxylate reductase 1) is a protein-coding gene. Diseases associated with PYCR1 include pycr1-related cutis laxa, and de barsy syndrome. GO annotations related to this gene include pyrroline-5-carboxylate reductase activity and identical protein binding. An important paralog of this gene is ENSG00000255835.

UniProtKB/Swiss-Prot: P5CR1_HUMAN, P32322
Function: 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

Gene Wiki entry for PYCR1 Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000017.10  NT_010663.16  NC_018928.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the PYCR1 gene promoter:
         ER-alpha   ATF-2   MyoD   RelA   c-Jun   NF-kappaB1   NF-kappaB   Zic3   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 3): PYCR1 promoter sequence
   Search Chromatin IP Primers for PYCR1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat PYCR1


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 17q25.3   Ensembl cytogenetic band:  17q25.3   HGNC cytogenetic band: 17q25.3

PYCR1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
PYCR1 gene location

GeneLoc information about chromosome 17         GeneLoc Exon Structure

GeneLoc location for GC17M079890:  view genomic region     (about GC identifiers)

Start:
79,890,260 bp from pter      End:
79,900,288 bp from pter
Size:
10,029 bases      Orientation:
minus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, Cloud-Clone Corp., eBioscience, and/or antibodies-online,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., eBioscience, and/or antibodies-online, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
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UniProtKB/Swiss-Prot: P5CR1_HUMAN, P32322 (See protein sequence)
Recommended Name: Pyrroline-5-carboxylate reductase 1, mitochondrial  
Size: 319 amino acids; 33361 Da
Subunit: Homodecamer; composed of 5 homodimers
Sequence caution: Sequence=AAG17242.1; Type=Frameshift; Positions=214;
4 PDB 3D structures from and Proteopedia for PYCR1:
2GER (3D)        2GR9 (3D)        2GRA (3D)        2IZZ (3D)    
Secondary accessions: A6NFM2 Q6FHI4 Q96DI6 Q9HBQ4
Alternative splicing: 2 isoforms:  P32322-1   P32322-2   

Explore the universe of human proteins at neXtProt for PYCR1: NX_P32322

Explore proteomics data for PYCR1 at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus
  • Selected DME Specific Peptides for PYCR1 (P32322) (see all 7)
     LLGAAKML  TVYATGTHA  TGLSGSGPAY  SPGGATIHALH 


    See PYCR1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (5 alternative transcripts): 
    NP_001269208.1  NP_001269209.1  NP_001269210.1  NP_008838.2  NP_722546.1  

    ENSEMBL proteins: 
     ENSP00000328858   ENSP00000336579   ENSP00000385483   ENSP00000463352   ENSP00000463342  
     ENSP00000384949   ENSP00000463226   ENSP00000386002   ENSP00000463343   ENSP00000464098  
     ENSP00000463601   ENSP00000462398   ENSP00000464440   ENSP00000463225   ENSP00000462892  
    Reactome Protein details: P32322

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    antibodies-online proteins for PYCR1 (14 products) 

     
    antibodies-online peptides for PYCR1

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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    3 InterPro protein domains:
     IPR008927 6-PGluconate_DH_C-like
     IPR000304 Pyrroline-COOH_reductase
     IPR016040 NAD(P)-bd_dom

    Graphical View of Domain Structure for InterPro Entry P32322

    ProtoNet protein and cluster: P32322

    1 Blocks protein domain: IPB000304 Delta 1-pyrroline-5-carboxylate reductase

    UniProtKB/Swiss-Prot: P5CR1_HUMAN, P32322
    Similarity: Belongs to the pyrroline-5-carboxylate reductase family


    Find genes that share domains with PYCR1           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: P5CR1_HUMAN, P32322
    Function: 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
    Catalytic activity: L-proline + NAD(P)(+) = 1-pyrroline-5-carboxylate + NAD(P)H
    Enzyme regulation: Subject to competitive inhibition by the reaction product proline. Subject to competitive
    inhibition by stearoyl coenzyme A
    Biophysicochemical properties: Kinetic parameters: KM=0.151 mM for NAD(+); KM=3.06 mM for NADP(+);

         Genatlas biochemistry entry for PYCR1:
    pyrroline-5-carboxylate reductase 1,proline metabolic pathway,cytoplasmic

         Enzyme Number (IUBMB): EC 1.5.1.21 2

         Gene Ontology (GO): 4 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004735pyrroline-5-carboxylate reductase activity TAS--
    GO:0016616oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor ----
    GO:0042802identical protein binding IPI16730026
    GO:0051287NAD binding ----
         
    Find genes that share ontologies with PYCR1           About GenesLikeMe


    Phenotypes:
         2 GenomeRNAi human phenotypes for PYCR1:
     Decreased TP53 protein express  Decreased cell number 

         1 MGI phenotypic allele for Pycr1 (no phenotypes)

    Find genes that share phenotypes with PYCR1           About GenesLikeMe

    Animal Models:
         MGI mouse knock-out Pycr1tm1(KOMP)Vlcg for PYCR1

       genOway: Develop your customized and physiologically relevant rodent model for PYCR1

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    miRTarBase miRNAs that target PYCR1:
    hsa-let-7e-5p (MIRT051571), hsa-mir-940 (MIRT036631), hsa-mir-34a-5p (MIRT025563)

    Block miRNA regulation of human, mouse, rat PYCR1 using miScript Target Protectors
    Search for qRT-PCR Assays for microRNAs that regulate PYCR1
    SwitchGear 3'UTR luciferase reporter plasmidPYCR1 3' UTR sequence
    Inhib. RNA
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    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    P5CR1_HUMAN, P32322: Mitochondrion
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    mitochondrion5
    cytosol2
    nucleus2
    cytoskeleton1
    extracellular1

    Gene Ontology (GO): 3 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005737cytoplasm ----
    GO:0005739mitochondrion IDA19648921
    GO:0005759mitochondrial matrix TAS--

    Find genes that share ontologies with PYCR1           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    SuperPaths for PYCR1 About    
    See pathways by source

    SuperPathContained pathways About
    1Arginine and proline metabolism
    Arginine and proline metabolism
    arginine degradation VI (arginase 2 pathway)0.00
    Urea cycle and metabolism of amino groups0.00
    proline biosynthesis I0.00
    proline biosynthesis II (from arginine)0.00
    2Metabolism
    Metabolism0.38
    Metabolic pathways0.38
    3Metabolism of amino acids and derivatives
    Metabolism of amino acids and derivatives
    Amino acid synthesis and interconversion (transamination)0.00
    4Carbon metabolism
    Biosynthesis of amino acids0.38


    Find genes that share SuperPaths with PYCR1           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    4 BioSystems Pathways for PYCR1
        Urea cycle and metabolism of amino groups
    proline biosynthesis I
    arginine degradation VI (arginase 2 pathway)
    proline biosynthesis II (from arginine)

    1 Reactome Pathway for PYCR1
        Amino acid synthesis and interconversion (transamination)


    3 Kegg Pathways  (Kegg details for PYCR1):
        Arginine and proline metabolism
    Metabolic pathways
    Biosynthesis of amino acids

    UniProtKB/Swiss-Prot: P5CR1_HUMAN, P32322
    Pathway: Amino-acid biosynthesis; L-proline biosynthesis; L-proline from L-glutamate 5-semialdehyde: step 1/1

        Pathway & Disease-focused RT2 Profiler PCR Array including PYCR1: 

              Amino Acid Metabolism I in human mouse rat

    Interactions:

        Search GeneGlobe Interaction Network for PYCR1

    STRING Interaction Network Preview (showing 5 interactants - click image to see 15)

    Selected Interacting proteins for PYCR1 (P323221, 2, 3 ENSP000003288584) via UniProtKB, MINT, STRING, and/or I2D (see all 38)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    NUDT21O438092, 3MINT-8264468 I2D: score=2 
    CDK2AP2O759562, 3, ENSP000003014884MINT-8251260 I2D: score=2 STRING: ENSP00000301488
    ACOT9Q9Y3053I2D: score=4 
    ING2Q9H1603I2D: score=4 
    ATG10Q9H0Y03I2D: score=1 
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 8):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006561proline biosynthetic process IDA16730026
    GO:0008652cellular amino acid biosynthetic process TAS--
    GO:0034599cellular response to oxidative stress IMP19648921
    GO:0034641cellular nitrogen compound metabolic process TAS--
    GO:0044281small molecule metabolic process TAS--

    Find genes that share ontologies with PYCR1           About GenesLikeMe



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for PYCR1 (P5CR1)

    7 HMDB Compounds for PYCR1    About this table
    CompoundSynonyms CAS #PubMed Ids
    Hydroxyproline(2S,4R)-4-hydroxy-2-pyrrolidinecarboxylic acid (see all 21)51-35-4--
    L-Proline(-)-(S)-Proline (see all 16)147-85-3--
    NAD3-Carbamoyl-1-D-ribofuranosylpyridinium hydroxide 5'-ester with adenosine 5'-pyrophosphate (see all 28)53-84-9--
    NADH1,4-Dihydronicotinamide adenine dinucleotide (see all 17)58-68-4--
    NADPAdenine-nicotinamide dinucleotide phosphate (see all 18)53-59-8--
    NADPH2'-(dihydrogen phosphate) 5'-(trihydrogen pyrophosphate) Adenosine 5'-ester with 1,4-dihydro-1-b-D-ribofuranosylnicotinamide (see all 23)53-57-6--
    Pyrroline hydroxycarboxylic acid3-Hydroxy-L-1-pyrroline-5-carboxylate (see all 5)22573-88-2--

    2 DrugBank Compounds for PYCR1    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    L-Proline(-)-2-Pyrrolidinecarboxylic acid (see all 6)147-85-3target--16600630 17536821 16874462
    NADHbeta-DPNH (see all 18)606-68-8target--16777263 17474756

    3 Novoseek inferred chemical compound relationships for PYCR1 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    delta(1)pyrroline-5-carboxylate 96.6 31 19576563 (3), 16233902 (1), 17553165 (1), 16600630 (1) (see all 11)
    proline 69 15 16233902 (2), 19576563 (2), 18036351 (2), 16600630 (1) (see all 7)
    nadph 44.4 3 16233902 (1), 16600630 (1), 16730026 (1)



    Find genes that share compounds with PYCR1           About GenesLikeMe



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for PYCR1 gene (5 alternative transcripts): 
    NM_001282279.1  NM_001282280.1  NM_001282281.1  NM_006907.3  NM_153824.2  

    Unigene Cluster for PYCR1:

    Pyrroline-5-carboxylate reductase 1
    Hs.163451  [show with all ESTs]
    Unigene Representative Sequence: NM_006907
    15 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000329875(uc002kcr.1 uc010wvd.1 uc002kct.1) ENST00000337943(uc002kcp.3)
    ENST00000403172(uc002kcu.1) ENST00000577756 ENST00000584848 ENST00000402252
    ENST00000582198(uc010wve.1) ENST00000405481 ENST00000585215 ENST00000577624
    ENST00000579698 ENST00000579366 ENST00000581271 ENST00000583564 ENST00000585244

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    Additional mRNA sequence: 

    AF218000.1 AK225879.1 AK297627.1 AK303852.1 AY513285.1 BC001504.2 BC022244.1 BC071842.1 
    CR541769.1 HQ154643.1 HQ154644.1 M77836.1 

    21 DOTS entries:

    DT.316687  DT.100878827  DT.95176386  DT.97860740  DT.100759586  DT.95176393  DT.100878814  DT.100878840 
    DT.97860735  DT.92461947  DT.120917818  DT.100878815  DT.101988067  DT.95176396  DT.97860738  DT.100878838 
    DT.120917778  DT.100878828  DT.92461955  DT.95176388  DT.92461965 

    Selected AceView cDNA sequences (see all 644):

    BQ436804 BM847523 BE018099 BU838259 NM_153824 BG823122 AW291872 BQ006097 
    BQ669250 AA991316 BU839186 BM783387 BU854741 BM783392 BG252121 BM727402 
    AU122446 CF146624 AU117922 BG284558 AL561248 T29363 BU849848 BC022244 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for PYCR1 (see all 26)    About this scheme

    ExUns: 1a · 1b ^ 2a · 2b ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9a · 9b · 9c ^ 10a · 10b ^ 11a · 11b · 11c · 11d ^ 12 ^ 13 ^ 14a · 14b · 14c · 14d ^ 15 ^
    SP1:                                                                                                                                                            
    SP2:                                                                                                                                                            
    SP3:                                                                                                                                                            
    SP4:                                                                                                  -     -     -                                             
    SP5:                                                                                                                                -     -     -     -         

    ExUns: 16a · 16b ^ 17a · 17b ^ 18a · 18b · 18c ^ 19 ^ 20a · 20b ^ 21a · 21b · 21c · 21d · 21e · 21f ^ 22a · 22b · 22c ^ 23 ^ 24 ^ 25a · 25b
    SP1:  -     -           -     -     -                 -                                                           -           -               
    SP2:  -     -           -     -     -                 -                                                           -                           
    SP3:  -     -           -     -     -                                                                             -           -               
    SP4:                                                                                                                                          
    SP5:  -     -           -     -     -                 -                                                                                       


    ECgene alternative splicing isoforms for PYCR1

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

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    PYCR1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: AGGAGGGAGG
    PYCR1 Expression
    About this image


    PYCR1 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 4) fully expand
     
     Bone (Muscoskeletal System)    fully expand to see all 2 entries
             Membranous Facial Bones
     
     Brain (Nervous System)    fully expand to see all 2 entries
             Cerebral Cortex
     
     Adipose (Muscoskeletal System)
             Visceral White Adipocytes Visceral White Adipose
     
     Neural Tube (Nervous System)
             Telencephalon
    PYCR1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    PYCR1 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.163451
        Pathway & Disease-focused RT2 Profiler PCR Array including PYCR1: 
              Amino Acid Metabolism I in human mouse rat

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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for PYCR1

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of animals and fungi.

    Orthologs for PYCR1 gene from Selected species (see all 17)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Pycr11 , 5 pyrroline-5-carboxylate reductase 11, 5 86.3(n)1
    91.59(a)1
      11 (84.37 cM)5
    2090271  NM_144795.31  NP_659044.11 
     1206394165 
    chicken
    (Gallus gallus)
    Aves --
    Pyrroline-5-carboxylate reductase
    83(a)
    1 → many
    18(10246616-10250302)
    lizard
    (Anolis carolinensis)
    Reptilia --
    Pyrroline-5-carboxylate reductase
    83(a)
    1 → many
    2(118425525-118442804)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia Str.19522 Transcribed sequence with moderate similarity to protein more 75.84(n)    BX708694.1 
    zebrafish
    (Danio rerio)
    Actinopterygii zgc731122 hypothetical protein MGC73112 77.32(n)   393799  BC060905.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG58403
    P5cr1
    pyrroline 5-carboxylate reductase3
    Pyrroline 5-carboyxlate reductase1
    45(a)
    (best of 2)3
    52.18(n)1
    42.31(a)1
      90B33
    422841  NM_079676.31  NP_524400.21 
    worm
    (Caenorhabditis elegans)
    Secernentea M153.13 pyrroline-5-carboxylate reductase 50(a)   X(12182071-12183476)   --
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes PRO36
    Delta 1-pyrroline-5-carboxylate reductase, catalyz...
    30(a)
    1 → many
    V(201076-201936) YER023W


    ENSEMBL Gene Tree for PYCR1 (if available)
    TreeFam Gene Tree for PYCR1 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for PYCR1 gene
    ENSG000002558352  PYCRL2  PYCR22  
    5 SIMAP similar genes for PYCR1 using alignment to 15 protein entries:     P5CR1_HUMAN (see all proteins):
    PIG45    PYCR2    DKFZp434J218    P5CR2    PYCRL

    Find genes that share paralogs with PYCR1           About GenesLikeMe



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for PYCR1 (see all 12)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 17 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1219183751,2,4
    Cutis laxa, autosomal recessive, 2B (ARCL2B)4--see VAR_0590722 mis40--------
    VAR_0590764
    Cutis laxa, autosomal recessive, 2B (ARCL2B)4--see VAR_0590762 R Q mis40--------
    rs1219183771,2,4
    Cutis laxa, autosomal recessive, 2B (ARCL2B)4--see VAR_0590692 mis40--------
    VAR_0590704
    Cutis laxa, autosomal recessive, 2B (ARCL2B)4--see VAR_0590702 A T mis40--------
    VAR_0590684
    Cutis laxa, autosomal recessive, 2B (ARCL2B)4--see VAR_0590682 R G mis40--------
    rs2818753191,2,4
    Cutis laxa, autosomal recessive, 3B (ARCL3B)4--see VAR_0676002 mis40--------
    VAR_0590734
    Cutis laxa, autosomal recessive, 2B (ARCL2B)4--see VAR_0590732 G W mis40--------
    rs2818753181,2,4
    Cutis laxa, autosomal recessive, 3B (ARCL3B)4--see VAR_0590752 mis40--------
    VAR_0590744
    Cutis laxa, autosomal recessive, 3B (ARCL3B)4--see VAR_0590742 R H mis40--------
    VAR_0590714
    ----see VAR_0590712 A V mis40--------

    HapMap Linkage Disequilibrium report for PYCR1 (79890260 - 79900288 bp)

    Structural Variations
         Database of Genomic Variants (DGV) Selected variations for PYCR1 (see all 22):    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv909134CNV Loss21882294
    dgv3341n71CNV Loss21882294
    esv32874CNV Loss17666407
    dgv3333n71CNV Loss21882294
    nsv833569CNV Loss17160897
    nsv909161CNV Loss21882294
    esv29964CNV Loss17803354
    dgv3340n71CNV Loss21882294
    dgv3332n71CNV Loss21882294
    dgv3342n71CNV Loss21882294

    Human Gene Mutation Database (HGMD): PYCR1
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing PYCR1
    DNA2.0 Custom Variant and Variant Library Synthesis for PYCR1

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 179035   
    OMIM disorders: 612940  614438  
    UniProtKB/Swiss-Prot: P5CR1_HUMAN, P32322
  • Cutis laxa, autosomal recessive, 2B (ARCL2B) [MIM:612940]: A 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. Note=The disease is caused by
    mutations affecting the gene represented in this entry
  • Cutis laxa, autosomal recessive, 3B (ARCL3B) [MIM:614438]: A disorder characterized by an aged appearance
    with distinctive facial features, sparse hair, ophthalmologic abnormalities, intrauterine growth retardation, and
    cutis laxa. Note=The disease is caused by mutations affecting the gene represented in this entry

  • 6 diseases for PYCR1:    
    About MalaCards
    pycr1-related cutis laxa    de barsy syndrome    cutis laxa, autosomal recessive, type iiib    cutis laxa, autosomal recessive type 2b
    geroderma osteodysplastica    gyrate atrophy

    2 diseases from the University of Copenhagen DISEASES database for PYCR1:
    Cutis laxa     Gyrate atrophy

    Find genes that share disorders with PYCR1           About GenesLikeMe


    Export disorders for PYCR1 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for PYCR1 gene, integrated from 10 sources (see all 50):
    (articles sorted by number of sources associating them with PYCR1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Cloning human pyrroline-5-carboxylate reductase cDNA by complementation in Saccharomyces cerevisiae. (PubMed id 1730675)1, 2, 3 Dougherty K.M.... Valle D. (J. Biol. Chem. 1992)
    2. Mutation in pyrroline-5-carboxylate reductase 1 gene in families with cutis laxa type 2. (PubMed id 19576563)1, 2, 9 Guernsey D.L.... Samuels M.E. (Am. J. Hum. Genet. 2009)
    3. Crystal structure of human pyrroline-5-carboxylate reductase. (PubMed id 16730026)1, 2, 9 Meng Z.... Rao Z. (J. Mol. Biol. 2006)
    4. Compound heterozygous mutations in PYCR1 further expand the phenotypic spectrum of De Barsy syndrome. (PubMed id 22052856)1, 2 Lin D.S.... Lin S.P. (Am. J. Med. Genet. A 2011)
    5. Mutations in PYCR1 cause cutis laxa with progeroid features. (PubMed id 19648921)1, 2 Reversade B....Kornak U. (Nat. Genet. 2009)
    6. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S.... Malek J. (Genome Res. 2004)
    7. Purification, characterization, and crystallization of human pyrroline-5-carboxylate reductase. (PubMed id 16600630)7, 9 Meng Z....Rao Z. (Protein Expr. Purif. 2006)
    8. Bcl2-associated athanogene 3 interactome analysis reveals a new role in modulating proteasome activity. (PubMed id 23824909)1 Chen Y....Ge F. (amp 2013)
    9. DJ-1 cooperates with PYCR1 in cell protection against oxidative stress. (PubMed id 23743200)1 Yasuda T....Iguchi-Ariga S.M. (Biochem. Biophys. Res. Commun. 2013)
    10. Mutations in PYCR1 gene in three families with autosomal recessive cutis laxa, type 2. (PubMed id 23531708)1 Scherrer D.Z....Steiner C.E. (Eur J Med Genet 2013)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 5831 HGNC: 9721 AceView: PYCR1 Ensembl:ENSG00000183010 euGenes: HUgn5831
    ECgene: PYCR1 Kegg: 5831 H-InvDB: PYCR1

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for PYCR1 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section

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    Patent Information for PYCR1 gene:
    Search GeneIP for patents involving PYCR1

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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