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] See more...

Aliases for PYCR1 Gene

Aliases for PYCR1 Gene

  • Pyrroline-5-Carboxylate Reductase 1 2 3 5
  • Pyrroline-5-Carboxylate Reductase 1, Mitochondrial 3 4
  • P5C Reductase 1 3 4
  • EC 1.5.1.2 4 52
  • Proliferation-Inducing Protein 45 3
  • ARCL2B 3
  • ARCL3B 3
  • P5CR 1 4
  • PIG45 3
  • PP222 3
  • P5CR 3
  • PRO3 3
  • PYCR 3
  • P5C 3

External Ids for PYCR1 Gene

Previous GeneCards Identifiers for PYCR1 Gene

  • GC17P079270
  • GC17P9I0077
  • GC17M080426
  • GC17M080569
  • GC17M077463
  • GC17M077484
  • GC17M079890
  • GC17M075291

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 lysine degradation II (pipecolate pathway) and Arginine and proline metabolism. Gene Ontology (GO) annotations related to this gene include identical protein binding and oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor. An important paralog of this gene is PYCR2.

UniProtKB/Swiss-Prot Summary 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

Additional gene information for PYCR1 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for PYCR1 Gene

Genomics for PYCR1 Gene

GeneHancer (GH) Regulatory Elements for PYCR1 Gene

Promoters and enhancers for PYCR1 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around PYCR1 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for PYCR1

Top Transcription factor binding sites by QIAGEN in the PYCR1 gene promoter:
  • ATF-2
  • c-Jun
  • ER-alpha
  • MyoD
  • NF-kappaB
  • NF-kappaB1
  • RelA
  • Zic3

Genomic Locations for PYCR1 Gene

Genomic Locations for PYCR1 Gene
chr17:81,932,384-81,942,412
(GRCh38/hg38)
Size:
10,029 bases
Orientation:
Minus strand
chr17:79,890,260-79,900,288
(GRCh37/hg19)
Size:
10,029 bases
Orientation:
Minus strand

Genomic View for PYCR1 Gene

Genes around PYCR1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
PYCR1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for PYCR1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence 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 (PubMed:16730026, Ref.18). Interacts with LTO1 (PubMed:24930674).
    SequenceCaution:
    • Sequence=AAG17242.1; Type=Frameshift; 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

Selected DME Specific Peptides for PYCR1 Gene

P32322:
  • TVYATGTHA
  • HSDVLFLAVKPHIIPFILDEI
  • ALDALADGGVKMGLPRRLA
  • LLGAAKML
  • SPGGATIHALH
  • LESGGFRSLLI
  • TGLSGSGPAY

Post-translational modifications for PYCR1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Domains & Families for PYCR1 Gene

Gene Families for PYCR1 Gene

Human Protein Atlas (HPA):
  • Disease related genes
  • Enzymes
  • Potential drug targets
  • Predicted intracellular proteins

Protein Domains for PYCR1 Gene

Blocks:
  • Delta 1-pyrroline-5-carboxylate reductase
InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for PYCR1 Gene

GenScript: Design optimal peptide antigens:
  • Pyrroline-5-carboxylate reductase (A6NFM2_HUMAN)
  • Pyrroline-5-carboxylate reductase (B4DMU0_HUMAN)
  • Truncated pyrroline-5-carboxylate reductase 1 (D6QXZ5_HUMAN)
  • Pyrroline-5-carboxylate reductase 1, mitochondrial (P5CR1_HUMAN)
  • Proliferation-inducing protein 45 (Q2TU78_HUMAN)

Graphical View of Domain Structure for InterPro Entry

P32322

UniProtKB/Swiss-Prot:

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

Function for PYCR1 Gene

Molecular function for PYCR1 Gene

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.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=L-proline + NADP(+) = 1-pyrroline-5-carboxylate + 2 H(+) + NADPH; Xref=Rhea:RHEA:14109, ChEBI:CHEBI:15378, ChEBI:CHEBI:15893, ChEBI:CHEBI:57783, ChEBI:CHEBI:58349, ChEBI:CHEBI:60039; EC=1.5.1.2; Evidence=. ;.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=L-proline + NAD(+) = 1-pyrroline-5-carboxylate + 2 H(+) + NADH; Xref=Rhea:RHEA:14105, ChEBI:CHEBI:15378, ChEBI:CHEBI:15893, ChEBI:CHEBI:57540, ChEBI:CHEBI:57945, ChEBI:CHEBI:60039; EC=1.5.1.2; Evidence=. ;.
UniProtKB/Swiss-Prot EnzymeRegulation:
Subject to competitive inhibition by the reaction product proline. Subject to competitive inhibition by stearoyl coenzyme A.
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};
GENATLAS Biochemistry:
pyrroline-5-carboxylate reductase 1,proline metabolic pathway,cytoplasmic

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 IDA 16730026
GO:0005515 protein binding IPI 23743200
GO:0016491 oxidoreductase activity IEA --
GO:0042802 identical protein binding IPI 2722838
genes like me logo Genes that share ontologies with PYCR1: view
genes like me logo Genes that share phenotypes with PYCR1: view

Human Phenotype Ontology for PYCR1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for PYCR1 Gene

MGI Knock Outs for PYCR1:
  • Pycr1 Pycr1<tm1.1(KOMP)Vlcg>

Animal Model Products

  • Taconic Biosciences Mouse Models for PYCR1

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for PYCR1

Clone Products

  • Addgene plasmids for PYCR1

No data available for Phenotypes From GWAS Catalog , Transcription Factor Targets and HOMER Transcription for PYCR1 Gene

Localization for PYCR1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for PYCR1 Gene

Mitochondrion.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for PYCR1 gene
Compartment Confidence
mitochondrion 5
cytosol 3
plasma membrane 2
extracellular 2
cytoskeleton 2
nucleus 2
endoplasmic reticulum 2
peroxisome 1
endosome 1
lysosome 1
golgi apparatus 1

Gene Ontology (GO) - Cellular Components for PYCR1 Gene

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

No data available for Subcellular locations from the Human Protein Atlas (HPA) for PYCR1 Gene

Pathways & Interactions 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 TAS,IDA 16730026
GO:0008652 cellular amino acid biosynthetic process TAS --
GO:0034599 cellular response to oxidative stress IMP 19648921
GO:0051881 regulation of mitochondrial membrane potential IMP 23743200
GO:0055114 oxidation-reduction process IEA --
genes like me logo Genes that share ontologies with PYCR1: view

No data available for SIGNOR curated interactions for PYCR1 Gene

Drugs & Compounds for PYCR1 Gene

(5) Drugs for PYCR1 Gene - From: DrugBank, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
NADH Approved Nutra Target 0
hydroxyproline Experimental Pharma 0
NAD Experimental Pharma Full agonist, Agonist, Activator 0
NADP Experimental Pharma 0
Proline Nutra Target 41

(5) Additional Compounds for PYCR1 Gene - From: HMDB and Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
nadph
  • 2'-(Dihydrogen phosphate) 5'-(trihydrogen pyrophosphate) adenosine 5'-ester with 1,4-dihydro-1-b-D-ribofuranosylnicotinamide
  • 2'-(Dihydrogen phosphate) 5'-(trihydrogen pyrophosphate) adenosine 5'-ester with 1,4-dihydro-1-beta-delta-ribofuranosylnicotinamide
  • Adenosine 5'-(trihydrogen diphosphate) 2'-(dihydrogen phosphate) p'-5'-ester with 1,4-dihydro-1-beta-D-ribofuranosyl-3-pyridinecarboxamide
  • Adenosine 5'-(trihydrogen diphosphate) 2'-(dihydrogen phosphate) p'-5'-ester with 1,4-dihydro-1-beta-delta-ribofuranosyl-3-pyridinecarboxamide
  • b-NADPH
53-57-6
1-Pyrroline-5-carboxylic acid
  • 3,4-dihydro-2H-Pyrrole-2-carboxylate
  • Delta(1)-Pyrroline-5-carboxylic acid
  • 3,4-dihydro-2H-Pyrrole-2-carboxylic acid
  • 1-Pyrroline-5-carboxylate
  • delta(1)-Pyrroline-5-carboxylate
2906-39-0
Hydrogen Ion
  • H+
  • H(+)
  • Hydrogen cation
  • Hydron
  • Proton
Pyrroline hydroxycarboxylic acid
  • 3-Hydroxy-L-1-pyrroline-5-carboxylate
  • L-1-Pyrroline 3-hydroxy-5-carboxylate
  • L-1-Pyrroline-3-hydroxy-5-carboxylate
  • L-Delta1-Pyrroline 3-hydroxy-5-carboxylate
  • Pyrroline-hydroxy-carboxylate
22573-88-2
genes like me logo Genes that share compounds with PYCR1: view

Transcripts for PYCR1 Gene

mRNA/cDNA for PYCR1 Gene

6 REFSEQ mRNAs :
16 NCBI additional mRNA sequence :
17 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for PYCR1

Clone Products

  • Addgene plasmids for PYCR1

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

Expression for PYCR1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE 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 (x6.8).

Protein differential expression in normal tissues from HIPED for PYCR1 Gene

This gene is overexpressed in Skin (23.8), Liver (15.2), Salivary gland (12.8), and Bone (7.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for PYCR1 Gene



Transcriptomic regulation report from SPP (The Signaling Pathways Project) for PYCR1

SOURCE GeneReport for Unigene cluster for PYCR1 Gene:

Hs.163451

Evidence on tissue expression from TISSUES for PYCR1 Gene

  • Nervous system(4.9)
  • Stomach(3.7)
  • Lung(3.5)
  • Eye(3.3)
  • Intestine(3.2)
  • Liver(2.6)
  • Kidney(2.2)
  • Muscle(2.2)
  • Blood(2.1)
  • Skin(2.1)

Phenotype-based relationships between genes and organs from Gene ORGANizer for PYCR1 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • immune
  • integumentary
  • nervous
  • reproductive
  • respiratory
  • skeletal muscle
  • skeleton
Regions:
Head and neck:
  • brain
  • cerebellum
  • cerebrospinal fluid
  • cheek
  • chin
  • ear
  • eye
  • eyelid
  • face
  • forehead
  • head
  • jaw
  • lip
  • mandible
  • maxilla
  • meninges
  • mouth
  • neck
  • nose
  • outer ear
  • skull
  • tooth
Thorax:
  • chest wall
  • clavicle
  • esophagus
  • heart
  • heart valve
  • lung
  • rib
  • rib cage
  • scapula
  • sternum
Abdomen:
  • abdominal wall
  • intestine
  • stomach
Pelvis:
  • pelvis
  • testicle
Limb:
  • ankle
  • arm
  • digit
  • elbow
  • femur
  • fibula
  • finger
  • foot
  • forearm
  • hand
  • hip
  • humerus
  • knee
  • lower limb
  • radius
  • shin
  • shoulder
  • thigh
  • tibia
  • toe
  • ulna
  • upper limb
  • wrist
General:
  • hair
  • skin
  • spinal column
  • vertebrae
genes like me logo Genes that share expression patterns with PYCR1: view

No data available for Protein tissue co-expression partners and 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 31 30
  • 99.5 (n)
OneToOne
cow
(Bos Taurus)
Mammalia PYCR1 31 30
  • 89.73 (n)
OneToOne
dog
(Canis familiaris)
Mammalia PYCR1 31 30
  • 87.98 (n)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia PYCR1 31
  • 87 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Pycr1 30
  • 86.6 (n)
mouse
(Mus musculus)
Mammalia Pycr1 17 31 30
  • 86.3 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia -- 31
  • 70 (a)
OneToMany
chicken
(Gallus gallus)
Aves -- 31
  • 83 (a)
OneToMany
lizard
(Anolis carolinensis)
Reptilia -- 31
  • 83 (a)
OneToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia Str.1952 30
zebrafish
(Danio rerio)
Actinopterygii pycr1a 31
  • 80 (a)
ManyToMany
pycr1b 31
  • 70 (a)
ManyToMany
zgc73112 30
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.1655 30
fruit fly
(Drosophila melanogaster)
Insecta P5cr 32 30
  • 52.18 (n)
CG5840 31 32
  • 43 (a)
OneToMany
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP002308 30
  • 50.57 (n)
worm
(Caenorhabditis elegans)
Secernentea M153.1 31 32
  • 47 (a)
OneToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes PRO3 31
  • 30 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea CSA.9500 31
  • 52 (a)
OneToMany
Species where no ortholog for PYCR1 was found in the sources mined by GeneCards:
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for PYCR1: view image

Paralogs for PYCR1 Gene

Paralogs for PYCR1 Gene

(5) SIMAP similar genes for PYCR1 Gene using alignment to 15 proteins:

  • P5CR1_HUMAN
  • B4DMU0_HUMAN
  • D6QXZ5_HUMAN
  • E2QRB3_HUMAN
  • J3KQ22_HUMAN
  • J3KSA9_HUMAN
  • J3KTA8_HUMAN
  • J3QKT3_HUMAN
  • J3QKT4_HUMAN
  • J3QL23_HUMAN
  • J3QL24_HUMAN
  • J3QL32_HUMAN
  • J3QLK9_HUMAN
  • J3QR88_HUMAN
  • J3QRZ0_HUMAN
genes like me logo Genes that share paralogs with PYCR1: view

Variants for PYCR1 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for PYCR1 Gene

SNP ID Clinical significance and condition Chr 17 pos Variation AA Info Type
13192 Pathogenic: Autosomal recessive cutis laxa type 2B 81,934,645(-) ACACTGACCAGGAGGG SPLICE_DONOR_VARIANT,INTRON_VARIANT
13195 Pathogenic: Autosomal recessive cutis laxa type 2B 81,936,803(-) GC/G FRAMESHIFT_VARIANT
678602 Likely Benign: not provided 81,934,671(-) G/A SYNONYMOUS_VARIANT,INTRON_VARIANT
678636 Benign: not provided 81,934,186(-) G/A INTRON_VARIANT
678652 Likely Benign: not provided 81,934,848(-) C/T INTRON_VARIANT

Additional dbSNP identifiers (rs#s) for PYCR1 Gene

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

Variant ID Type Subtype PubMed ID
esv21913 CNV gain+loss 19812545
esv29964 CNV loss 17803354
esv32874 CNV loss 17666407
nsv428351 CNV gain 18775914
nsv470620 CNV loss 18288195
nsv833569 CNV loss 17160897
nsv833571 CNV loss 17160897
nsv952392 CNV deletion 24416366

Variation tolerance for PYCR1 Gene

Residual Variation Intolerance Score: 32% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.03; 21.19% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for PYCR1 Gene

Human Gene Mutation Database (HGMD)
PYCR1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
PYCR1

SNP Genotyping and Copy Number Assay Products

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

Disorders for PYCR1 Gene

MalaCards: The human disease database

(13) MalaCards diseases for PYCR1 Gene - From: UniProtKB/Swiss-Prot, OMIM, ClinVar, GTR, Orphanet, DISEASES, and GeneCards

- elite association - COSMIC cancer census association via MalaCards
Search PYCR1 in MalaCards View complete list of genes associated with diseases

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.

Additional Disease Information for PYCR1

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

No data available for Genatlas for PYCR1 Gene

Publications for PYCR1 Gene

  1. Mutation in pyrroline-5-carboxylate reductase 1 gene in families with cutis laxa type 2. (PMID: 19576563) Guernsey DL … Samuels ME (American journal of human genetics 2009) 3 4 23 54
  2. Crystal structure of human pyrroline-5-carboxylate reductase. (PMID: 16730026) Meng Z … Rao Z (Journal of molecular biology 2006) 3 4 23 54
  3. Cloning human pyrroline-5-carboxylate reductase cDNA by complementation in Saccharomyces cerevisiae. (PMID: 1730675) Dougherty KM … Valle D (The Journal of biological chemistry 1992) 2 3 4 54
  4. Frequent amplification of ORAOV1 gene in esophageal squamous cell cancer promotes an aggressive phenotype via proline metabolism and ROS production. (PMID: 24930674) Togashi Y … Nishio K (Oncotarget 2014) 3 4 54
  5. Compound heterozygous mutations in PYCR1 further expand the phenotypic spectrum of De Barsy syndrome. (PMID: 22052856) Lin DS … Lin SP (American journal of medical genetics. Part A 2011) 3 4 54

Products for PYCR1 Gene

  • Signalway ELISA kits for PYCR1
  • Signalway Proteins for PYCR1

Sources for PYCR1 Gene