Free for academic non-profit institutions. Other users need a Commercial license

Aliases for PYCR1 Gene

Aliases for PYCR1 Gene

  • Pyrroline-5-Carboxylate Reductase 1 2 3
  • P5C Reductase 1 3 4
  • EC 1.5.1.2 4 63
  • ARCL2B 3 6
  • ARCL3B 3 6
  • PRO3 3 6
  • Pyrroline-5-Carboxylate Reductase 1, Mitochondrial 3
  • Proliferation-Inducing Protein 45 3
  • P5CR 1 4
  • PIG45 3
  • PP222 3
  • P5CR 3
  • PYCR 3
  • P5C 3

External Ids for PYCR1 Gene

Summaries for PYCR1 Gene

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 cutis laxa, autosomal recessive, type iib and cutis laxa, autosomal recessive, type iiib. Among its related pathways are Metabolism and Carbon metabolism. GO annotations related to this gene include identical protein binding and pyrroline-5-carboxylate reductase activity. An important paralog of this gene is PYCR2.

UniProtKB/Swiss-Prot for PYCR1 Gene

  • 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

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for PYCR1 Gene

Genomics for PYCR1 Gene

Genomic Location for PYCR1 Gene

Start:
81,932,384 bp from pter
End:
81,942,412 bp from pter
Size:
10,029 bases
Orientation:
Minus strand

Genomic View for PYCR1 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for PYCR1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for PYCR1 Gene

Regulatory Elements for PYCR1 Gene

Proteins for PYCR1 Gene

  • Protein details for PYCR1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P32322-P5CR1_HUMAN
    Recommended name:
    Pyrroline-5-carboxylate reductase 1, mitochondrial
    Protein Accession:
    P32322
    Secondary Accessions:
    • A6NFM2
    • B4DMU0
    • Q6FHI4
    • Q96DI6
    • Q9HBQ4

    Protein attributes for PYCR1 Gene

    Size:
    319 amino acids
    Molecular mass:
    33361 Da
    Quaternary structure:
    • Homodecamer; composed of 5 homodimers.
    SequenceCaution:
    • Sequence=AAG17242.1; Type=Frameshift; Positions=214; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for PYCR1 Gene

    Alternative splice isoforms for PYCR1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for PYCR1 Gene

Proteomics data for PYCR1 Gene at MOPED

Post-translational modifications for PYCR1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Domains for PYCR1 Gene

Graphical View of Domain Structure for InterPro Entry

P32322

UniProtKB/Swiss-Prot:

P5CR1_HUMAN
Family:
  • Belongs to the pyrroline-5-carboxylate reductase family.:
    • P32322
genes like me logo Genes that share domains with PYCR1: view

No data available for Gene Families for PYCR1 Gene

Function for PYCR1 Gene

Molecular function for PYCR1 Gene

GENATLAS Biochemistry: pyrroline-5-carboxylate reductase 1,proline metabolic pathway,cytoplasmic
UniProtKB/Swiss-Prot BiophysicochemicalProperties: Kinetic parameters: KM=0.151 mM for NAD(+) {ECO:0000269 PubMed:16730026}; KM=3.06 mM for NADP(+) {ECO:0000269 PubMed:16730026};
UniProtKB/Swiss-Prot CatalyticActivity: L-proline + NAD(P)(+) = 1-pyrroline-5-carboxylate + NAD(P)H.
UniProtKB/Swiss-Prot EnzymeRegulation: Subject to competitive inhibition by the reaction product proline. Subject to competitive inhibition by stearoyl coenzyme A.
UniProtKB/Swiss-Prot 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.

Enzyme Numbers (IUBMB) for PYCR1 Gene

Gene Ontology (GO) - Molecular Function for PYCR1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004735 pyrroline-5-carboxylate reductase activity TAS --
GO:0005515 protein binding IPI 23743200
GO:0016616 oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor --
GO:0042802 identical protein binding IPI 16730026
GO:0051287 NAD binding --
genes like me logo Genes that share ontologies with PYCR1: view

Phenotypes for PYCR1 Gene

genes like me logo Genes that share phenotypes with PYCR1: view

miRNA for PYCR1 Gene

miRTarBase miRNAs that target PYCR1

No data available for Animal Models , Transcription Factor Targeting and HOMER Transcription for PYCR1 Gene

Localization for PYCR1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for PYCR1 Gene

Mitochondrion.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for PYCR1 Gene COMPARTMENTS Subcellular localization image for PYCR1 gene
Compartment Confidence
mitochondrion 5
cytosol 2
nucleus 2
cytoskeleton 1
extracellular 1

Gene Ontology (GO) - Cellular Components for PYCR1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm --
GO:0005739 mitochondrion IDA 19648921
GO:0005759 mitochondrial matrix TAS --
genes like me logo Genes that share ontologies with PYCR1: view

Pathways for PYCR1 Gene

genes like me logo Genes that share pathways with PYCR1: view

UniProtKB/Swiss-Prot P32322-P5CR1_HUMAN

  • Pathway: Amino-acid biosynthesis; L-proline biosynthesis; L-proline from L-glutamate 5-semialdehyde: step 1/1

Gene Ontology (GO) - Biological Process for PYCR1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006561 proline biosynthetic process IDA 16730026
GO:0008652 cellular amino acid biosynthetic process TAS --
GO:0034599 cellular response to oxidative stress IMP 19648921
GO:0034641 cellular nitrogen compound metabolic process TAS --
GO:0044281 small molecule metabolic process TAS --
genes like me logo Genes that share ontologies with PYCR1: view

Compounds for PYCR1 Gene

(7) HMDB Compounds for PYCR1 Gene

Compound Synonyms Cas Number PubMed IDs
Hydroxyproline
  • (2S,4R)-4-hydroxy-2-pyrrolidinecarboxylic acid
51-35-4
L-Proline
  • (-)-(S)-Proline
147-85-3
NAD
  • 3-Carbamoyl-1-D-ribofuranosylpyridinium hydroxide 5'-ester with adenosine 5'-pyrophosphate
53-84-9
NADH
  • 1,4-Dihydronicotinamide adenine dinucleotide
58-68-4
NADP
  • Adenine-nicotinamide dinucleotide phosphate
53-59-8

(2) Drugbank Compounds for PYCR1 Gene

Compound Synonyms Cas Number Type Actions PubMed IDs
L-Proline
  • (-)-2-Pyrrolidinecarboxylic acid
147-85-3 target
NADH
  • beta-DPNH
606-68-8 target

(3) Novoseek inferred chemical compound relationships for PYCR1 Gene

Compound -log(P) Hits PubMed IDs
delta(1)pyrroline-5-carboxylate 96.6 13
proline 69 10
nadph 44.4 3
genes like me logo Genes that share compounds with PYCR1: view

Transcripts for PYCR1 Gene

Unigene Clusters for PYCR1 Gene

Pyrroline-5-carboxylate reductase 1:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for PYCR1 Gene

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: - - - -
SP6:
SP7:
SP8:
SP9:
SP10: - - -
SP11: -
SP12: - -
SP13:
SP14: - - - - -
SP15: - - -
SP16: - - -
SP17:
SP18:
SP19:
SP20:
SP21:
SP22: - - - - -
SP23: - - -
SP24:
SP25:
SP26:

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: - - - - - -
SP6:
SP7: - - - - - -
SP8: - - - - -
SP9: - - - -
SP10:
SP11:
SP12:
SP13: - - - - - - -
SP14:
SP15:
SP16:
SP17:
SP18: - - -
SP19: - -
SP20: -
SP21:
SP22:
SP23:
SP24: - -
SP25:
SP26:

Relevant External Links for PYCR1 Gene

GeneLoc Exon Structure for
PYCR1
ECgene alternative splicing isoforms for
PYCR1

Expression for PYCR1 Gene

mRNA expression in normal human tissues for PYCR1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for PYCR1 Gene

This gene is overexpressed in Pancreas (6.8).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for PYCR1 Gene

SOURCE GeneReport for Unigene cluster for PYCR1 Gene Hs.163451

genes like me logo Genes that share expressions with PYCR1: view

No data available for mRNA Expression by UniProt/SwissProt for PYCR1 Gene

Orthologs for PYCR1 Gene

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

Orthologs for PYCR1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia PYCR1 35
  • 99.5 (n)
  • 99.7 (a)
PYCR1 36
  • 91 (a)
OneToOne
cow
(Bos Taurus)
Mammalia PYCR1 35
  • 89.73 (n)
  • 93.4 (a)
PYCR1 36
  • 93 (a)
OneToOne
dog
(Canis familiaris)
Mammalia PYCR1 35
  • 87.98 (n)
  • 90.28 (a)
PYCR1 36
  • 84 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Pycr1 35
  • 86.3 (n)
  • 91.59 (a)
Pycr1 16
Pycr1 36
  • 92 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia PYCR1 36
  • 87 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 36
  • 70 (a)
OneToMany
rat
(Rattus norvegicus)
Mammalia Pycr1 35
  • 86.6 (n)
  • 92.48 (a)
chicken
(Gallus gallus)
Aves -- 36
  • 83 (a)
OneToMany
lizard
(Anolis carolinensis)
Reptilia -- 36
  • 83 (a)
OneToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia Str.1952 35
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.1655 35
zebrafish
(Danio rerio)
Actinopterygii pycr1a 36
  • 80 (a)
ManyToMany
pycr1b 36
  • 70 (a)
ManyToMany
zgc73112 35
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP002308 35
  • 50.57 (n)
  • 43.02 (a)
fruit fly
(Drosophila melanogaster)
Insecta CG5840 36
  • 43 (a)
OneToMany
P5cr 35
  • 52.18 (n)
  • 42.31 (a)
P5cr 37
  • 39 (a)
CG5840 37
  • 45 (a)
worm
(Caenorhabditis elegans)
Secernentea M153.1 36
  • 47 (a)
OneToMany
M153.1 37
  • 50 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes PRO3 36
  • 30 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea CSA.9500 36
  • 52 (a)
OneToMany
Species with no ortholog for PYCR1:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for PYCR1 Gene

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

Paralogs for PYCR1 Gene

Paralogs for PYCR1 Gene

genes like me logo Genes that share paralogs with PYCR1: view

Variants for PYCR1 Gene

Sequence variations from dbSNP and Humsavar for PYCR1 Gene

SNP ID Clin Chr 17 pos Sequence Context AA Info Type MAF
rs872029 -- 81,934,710(-) GGGGG(C/T)GTGAA intron-variant, synonymous-codon, reference
rs1105627 -- 81,933,937(+) GTCCT(A/G)CTGGT intron-variant
rs1105628 -- 81,934,186(+) ACCTC(A/G)GGGCC intron-variant
rs2272031 -- 81,936,624(-) TGGCA(A/G)CTTCT intron-variant
rs3744807 -- 81,932,942(+) GCTCC(C/T)GAGCT utr-variant-3-prime, missense, reference

Structural Variations from Database of Genomic Variants (DGV) for PYCR1 Gene

Variant ID Type Subtype PubMed ID
nsv909052 CNV Loss 21882294
nsv428351 CNV Gain 18775914
dgv3330n71 CNV Loss 21882294
dgv3332n71 CNV Loss 21882294
nsv470620 CNV Loss 18288195
dgv3333n71 CNV Loss 21882294
nsv909134 CNV Loss 21882294
esv21913 CNV Gain+Loss 19812545
nsv909128 CNV Gain+Loss 21882294
nsv833569 CNV Loss 17160897
dgv3337n71 CNV Loss 21882294
dgv3338n71 CNV Loss 21882294
dgv3339n71 CNV Loss 21882294
nsv909151 CNV Gain+Loss 21882294
dgv3340n71 CNV Loss 21882294
dgv3341n71 CNV Loss 21882294
dgv3342n71 CNV Loss 21882294
esv29964 CNV Loss 17803354
nsv909160 CNV Gain 21882294
nsv909161 CNV Loss 21882294
nsv833571 CNV Loss 17160897
esv32874 CNV Loss 17666407

Relevant External Links for PYCR1 Gene

HapMap Linkage Disequilibrium report
PYCR1
Human Gene Mutation Database (HGMD)
PYCR1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for PYCR1 Gene

Disorders for PYCR1 Gene

(2) OMIM Diseases for PYCR1 Gene (179035)

UniProtKB/Swiss-Prot

P5CR1_HUMAN
  • 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. {ECO:0000269 PubMed:19576563, ECO:0000269 PubMed:19648921}. 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. {ECO:0000269 PubMed:19648921, ECO:0000269 PubMed:22052856}. Note=The disease is caused by mutations affecting the gene represented in this entry.

(2) University of Copenhagen DISEASES for PYCR1 Gene

genes like me logo Genes that share disorders with PYCR1: view

Publications for PYCR1 Gene

  1. Cloning human pyrroline-5-carboxylate reductase cDNA by complementation in Saccharomyces cerevisiae. (PMID: 1730675) Dougherty K.M. … Valle D. (J. Biol. Chem. 1992) 2 3 4
  2. Crystal structure of human pyrroline-5-carboxylate reductase. (PMID: 16730026) Meng Z. … Rao Z. (J. Mol. Biol. 2006) 3 4 23
  3. Mutation in pyrroline-5-carboxylate reductase 1 gene in families with cutis laxa type 2. (PMID: 19576563) Guernsey D.L. … Samuels M.E. (Am. J. Hum. Genet. 2009) 3 4 23
  4. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 3 4
  5. Mutations in PYCR1 cause cutis laxa with progeroid features. (PMID: 19648921) Reversade B. … Kornak U. (Nat. Genet. 2009) 3 4

Products for PYCR1 Gene

Sources for PYCR1 Gene

Back to Top

Content