Enzymes Recombinant Proteins

Human PYCR1 Recombinant Protein (RPPB2232)

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SKU:
RPPB2232
Product Type:
Recombinant Protein
Species:
Human
Uniprot:
P32322
Research Area:
Enzymes

Description

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Product Name:Human PYCR1 Recombinant Protein
Product Code:RPPB2232
Size:10µg
Species:Human
Target:PYCR1
Synonyms:P5C, PRO3, P5CR 1, Pyrroline-5-Carboxylate Reductase 1 mitochondrial, ARCL2B, PYCR, PIG45, PP222, Proliferation-Inducing Protein 45.
Source:Escherichia Coli
Physical Appearance:Sterile Filtered clear solution.
Formulation:The PYCR1 protein solution (0.5mg/1ml) is formulated in 20 mM Tris-HCl Buffer (pH 8.5) and 10% Glycerol.
Stability:Store at 4°C if entire vial will be used within 2-4 weeks. Store, frozen at -20°C for longer periods of time. For long term storage it is recommended to add a carrier protein (0.1% HSA or BSA).Avoid multiple freeze-thaw cycles.
Purity:Greater than 90% as determined by SDS-PAGE.
Amino Acid Sequence:MGSSHHHHHH SSGLVPRGSH MSVGFIGAGQ LAFALAKGFT AAGVLAAHKI MASSPDMDLA TVSALRKMGV KLTPHNKETV QHSDVLFLAV KPHIIPFILD EIGADIEDRH IVVSCAAGVT ISSIEKKLSA FRPAPRVIRC MTNTPVVVRE GATVYATGTH AQVEDGRLME QLLSSVGFCT EVEEDLIDAV TGLSGSGPAY AFTALDALAD GGVKMGLPRR LAVRLGAQAL LGAAKMLLHS EQHPGQLKDN VSSPGGATIH ALHVLESGGF RSLLINAVEA SCIRTRELQS MADQEQVSPA AIKKTILDKV KLDSPAGTAL SPSGHTKLLP RSLAPAGKD

PYCR1 is a universal housekeeping enzyme which catalyzes the NAD(P)H-dependent conversion of pyrroline-5-carboxylate to proline. PYCR1 enzyme also takes a physiologic part in the generation of NADP(+) in certain cell types. PYCR1 forms a homopolymer and localizes to the mitochondrion. Mutations in PYCR1 are the source of cutis laxa autosomal recessive type 2B (ARCL2B).

PYCR1 produced in E.Coli is a single, non-glycosylated polypeptide chain containing 339 amino acids (1-319a.a.) and having a molecular mass of 35.5kDa.PYCR1 is fused to a 20 amino acid His-tag at N-terminus & purified by proprietary chromatographic techniques.

UniProt Protein Function:PYCR1: 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. Defects in PYCR1 are the cause of cutis laxa autosomal recessive type 2B (ARCL2B). A multisystem disorder characterized by the appearance of premature aging, wrinkled and lax skin with reduced elasticity, joint laxity, craniofacial dysmorphic features, intrauterine growth retardation with some degree of postnatal growth deficiency, and developmental delay. Defects in PYCR1 are the cause of cutis laxa, autosomal recessive, type 3B (ARCL3B). ARCL3B is a disorder characterized by an aged appearance with distinctive facial features, sparse hair, ophthalmologic abnormalities, intrauterine growth retardation, and cutis laxa. Belongs to the pyrroline-5-carboxylate reductase family.
UniProt Protein Details:

Protein type:EC 1.5.1.2; Oxidoreductase; Mitochondrial; Amino Acid Metabolism - arginine and proline

Chromosomal Location of Human Ortholog: 17q25.3

Cellular Component: mitochondrial matrix; mitochondrion

Molecular Function:identical protein binding; protein binding; pyrroline-5-carboxylate reductase activity

Biological Process: amino acid biosynthetic process; proline biosynthetic process; regulation of mitochondrial membrane potential

Disease: Cutis Laxa, Autosomal Recessive, Type Iib; Cutis Laxa, Autosomal Recessive, Type Iiib

NCBI Summary: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]
UniProt Code:P32322
NCBI GenInfo Identifier:60416434
NCBI Gene ID:5831
NCBI Accession:P32322.2
UniProt Secondary Accession:P32322,Q6FHI4, Q96DI6, Q9HBQ4, A6NFM2, B4DMU0,
UniProt Related Accession:P32322
Molecular Weight:35,981 Da
NCBI Full Name:Pyrroline-5-carboxylate reductase 1, mitochondrial
NCBI Synonym Full Names:pyrroline-5-carboxylate reductase 1
NCBI Official Symbol:PYCR1��
NCBI Official Synonym Symbols:P5C; P5CR; PRO3; PYCR; PIG45; PP222; ARCL2B; ARCL3B��
NCBI Protein Information:pyrroline-5-carboxylate reductase 1, mitochondrial
UniProt Protein Name:Pyrroline-5-carboxylate reductase 1, mitochondrial
Protein Family:Pyrroline-5-carboxylate reductase
UniProt Gene Name:PYCR1��
UniProt Entry Name:P5CR1_HUMAN
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