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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

PYCR1 Gene

protein-coding   GIFtS: 67
GCID: GC17M079890

Pyrroline-5-Carboxylate Reductase 1

Microbiology & Infectious Diseases Congress
  See 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)
About This Section

Aliases
Pyrroline-5-Carboxylate Reductase 11 2     P5CR2
P5C Reductase 12 3     PIG452
EC 1.5.1.23 8     PP2222
ARCL2B2 5     PYCR2
PRO32 5     Proliferation-Inducing Protein 452
ARCL3B2     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, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

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 de barsy syndrome, and pycr1-related cutis laxa, and among its related super-pathways are Metabolic pathways and Urea cycle and metabolism of amino groups. GO annotations related to this gene include pyrroline-5-carboxylate reductase activity and nucleotide 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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000017.10  NT_010663.15  NC_018928.2  
Regulatory elements:
   SABiosciences 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 SABiosciences Chromatin IP Primers for PYCR1

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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 UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB 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, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

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
Subcellular location: Mitochondrion
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:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_P32322

  • 4/7 DME Specific Peptides for PYCR1 (P32322) (see all 7)
     LLGAAKML  TVYATGTHA  TGLSGSGPAY  SPGGATIHALH 

    PYCR1 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    PYCR1 Protein Expression
    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
    Human Recombinant Protein Products for PYCR1: 
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    Cloud-Clone Corp. Proteins for PYCR1 

    Gene Ontology (GO): 3 cellular component terms (GO ID links to tree view):    About this table

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

    PYCR1 for ontologies           About GeneDecksing



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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    4 InterPro protein domains:
     IPR004455 NADP_OxRdtase_F420
     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


    PYCR1 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    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 (GO ID links to tree view):    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 ----
         
    PYCR1 for ontologies           About GeneDecksing


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

         1 MGI phenotypic allele for Pycr1 (no phenotypes)

    PYCR1 for phenotypes           About GeneDecksing

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

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    Inhib. RNA
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    (Pathways according to EMD Millipore, 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 SABiosciences, 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 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for PYCR1 About   (see all 6)                                                                                              See pathways by source

    SuperPathContained pathways About
    1Metabolism
    Metabolism0.40
    Metabolic pathways0.40
    2Arginine and proline metabolism
    Arginine and proline metabolism0.35
    Urea cycle and metabolism of amino groups0.35
    3proline biosynthesis II (from arginine)
    proline biosynthesis II (from arginine)0.60
    proline biosynthesis I0.40
    arginine degradation VI (arginase 2 pathway)0.60
    4Carbon metabolism
    Biosynthesis of amino acids0.37
    5Metabolism of amino acids and derivatives
    Metabolism of amino acids and derivatives

    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)

    3        Reactome Pathways for PYCR1
        Metabolism
    Amino acid synthesis and interconversion (transamination)
    Metabolism of amino acids and derivatives


    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


    PYCR1 for pathways           About GeneDecksing

    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for PYCR1

    STRING Interaction Network Preview (showing 5 interactants - click image to see 10)

    5/33 Interacting proteins for PYCR1 (P323221, 2, 3 ENSP000003288584) via UniProtKB, MINT, STRING, and/or I2D (see all 33)

    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): 5/8 biological process terms (GO ID links to tree view) (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--

    PYCR1 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    PYCR1 for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
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    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)

    Search CenterWatch for drugs/clinical trials and news about PYCR1 / P5CR1

    (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,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    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

    Congresses - knowledge worth sharing:  
    European Congress of Clinical Microbiology and Infectious Diseases (ECCMID) 10 - 13 May 2014

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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 

    24/644 AceView cDNA sequences (see all 644):

    BQ059176 CR615012 BM678527 BU501007 BM783387 BQ057863 CR595130 CR590479 
    BM727402 AL561248 AW303331 BM742824 BU178282 CF146624 NM_006907 BG823122 
    AI863663 BQ052454 BG323977 BQ643495 CD671517 BE257550 AU142632 CR597376 

    GeneLoc Exon Structure

    5/26 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™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    PYCR1 expression in normal human tissues (normalized intensities)      PYCR1 embryonic expression: see
    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 
     5/17 selected tissues (see all 17) fully expand
     
     Bone (Muscoskeletal System)    fully expand to see all 7 entries
             Membranous Facial Bones
             sensory organ/ear/inner ear   
     
     Cartilage (Muscoskeletal System)    fully expand to see all 5 entries
             sensory organ/nose/nasal septum   
     
     Brain (Nervous System)    fully expand to see all 3 entries
             Cerebral Cortex
             brain/midbrain   
     
     Neural Crest (Gastrulation Derivatives)    fully expand to see all 3 entries
             skeleton/cranium/chondrocranium   
     
     Mesoderm (Gastrulation Derivatives)    fully expand to see all 2 entries
             skeleton/axial skeleton   

    See PYCR1 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for PYCR1

    SOURCE GeneReport for Unigene cluster: Hs.163451
        SABiosciences Expression via Pathway-Focused 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)
    About This Section

    This gene was present in the common ancestor of animals and fungi.

    Orthologs for PYCR1 gene from 8/17 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 PYCR26
    Uncharacterized protein
    83(a)
    1 → many
    18(10246616-10250302)
    lizard
    (Anolis carolinensis)
    Reptilia --
    --
    84(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...
    29(a)
    1 → many
    V(201076-201936)


    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)
    About This Section
    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

    PYCR1 for paralogs           About GeneDecksing



    (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) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/12 SNPs in PYCR1 are shown (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
    ----------
    VAR_0590724
    Cutis laxa, autosomal recessive, 2B (ARCL2B)4--see VAR_0590722 G R mis40--------
    VAR_0590764
    Cutis laxa, autosomal recessive, 2B (ARCL2B)4--see VAR_0590762 R Q mis40--------
    VAR_0590694
    Cutis laxa, autosomal recessive, 2B (ARCL2B)4--see VAR_0590692 R H 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--------
    VAR_0676004
    Cutis laxa, autosomal recessive, 3B (ARCL3B)4--see VAR_0676002 G E mis40--------
    VAR_0590734
    Cutis laxa, autosomal recessive, 2B (ARCL2B)4--see VAR_0590732 G W mis40--------
    VAR_0590754
    Cutis laxa, autosomal recessive, 3B (ARCL3B)4--see VAR_0590752 A T 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) 10/22 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
    SABiosciences Cancer Mutation 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, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 179035   
    OMIM disorders: 612940  
    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

  • 12 diseases for PYCR1:    About MalaCards
    de barsy syndrome    pycr1-related cutis laxa    pycr1-related debarsy syndrome    cutis laxa, autosomal recessive type 2b
    geroderma osteodysplasticum    gyrate atrophy    cutis laxa    pneumonia
    tuberculosis    adenoma    prostate cancer    prostatitis

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

    PYCR1 for disorders           About GeneDecksing


    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)
    About This Section

    PubMed articles for PYCR1 gene, integrated from 9 sources (see all 49):
    (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. (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. (2009)
    3. Crystal structure of human pyrroline-5-carboxylate reductase. (PubMed id 16730026)1, 2, 9 Meng Z.... Rao Z. (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. (2011)
    5. Mutations in PYCR1 cause cutis laxa with progeroid features. (PubMed id 19648921)1, 2 Reversade B....Kornak U. (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. (2004)
    7. Purification, characterization, and crystallization of human pyrroline-5-carboxylate reductase. (PubMed id 16600630)7, 9 Meng Z....Rao Z. (2006)
    8. Bcl2-associated Athanogene 3 Interactome Analysis Reve als a New Role in Modulating Proteasome Activity. (PubMed id 23824909)1 Chen Y....Ge F. (2013)
    9. DJ-1 cooperates with PYCR1 in cell protection against oxidative stress. (PubMed id 23743200)1 Yasuda T....Iguchi-Ariga S.M. (2013)
    10. Charting the landscape of tandem BRCT domain-mediated protein interactions. (PubMed id 22990118)1 Woods N.T....Monteiro A.N. (2012)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     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)
    About This Section
    Entrez Gene: 5831 HGNC: 9721 AceView: PYCR1 Ensembl:ENSG00000183010 euGenes: HUgn5831
    ECgene: PYCR1 Kegg: 5831 H-InvDB: PYCR1

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    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
    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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    About This Section

     
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    GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 4 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

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