catalog number :
MBS965169
products type :
Recombinant Protein
products full name :
Recombinant Human Delta-1-pyrroline-5-carboxylate synthase (ALDH18A1)
products short name :
Delta-1-pyrroline-5-carboxylate synthase (ALDH18A1)
products name syn :
Delta-1-pyrroline-5-carboxylate synthase; P5CS; Aldehyde dehydrogenase family 18 member A1; Including the following 2 domains:; Glutamate 5-kinase; GK; EC=2.7.2.11; Gamma-glutamyl kinase; Gamma-glutamyl phosphate reductase; GPR; EC=1.2.1.41; Glutamate-5-s
other names :
delta-1-pyrroline-5-carboxylate synthase isoform 2; Delta-1-pyrroline-5-carboxylate synthase; delta-1-pyrroline-5-carboxylate synthase; delta1-pyrroline-5-carboxlate synthetase; aldehyde dehydrogenase family 18 member A1; delta-1-pyrroline-5-carboxylate synthetase; pyrroline-5-carboxylate synthetase (glutamate gamma-semialdehyde synthetase); aldehyde dehydrogenase 18 family, member A1; Aldehyde dehydrogenase family 18 member A1Including the following 2 domains:Glutamate 5-kinase (EC:2.7.2.11); GKAlternative name(s):Gamma-glutamyl kinase
products gene name :
ALDH18A1
products gene name syn :
ALDH18A1; GSAS; P5CS; PYCS
other gene names :
ALDH18A1; ALDH18A1; GSAS; P5CS; PYCS; ARCL3A; GSAS; P5CS; PYCS; P5CS; GK; GPR
uniprot entry name :
P5CS_HUMAN
host :
E Coli or Yeast or Baculovirus or Mammalian Cell
sequence positions :
1-795
sequence :
MLSQVYRCGF QPFNQHLLPW VKCTTVFRSH CIQPSVIRHV RSWSNIPFIT VPLSRTHGKS FAHRSELKHA KRIVVKLGSA VVTRGDECGL ALGRLASIVE QVSVLQNQGR EMMLVTSGAV AFGKQRLRHE ILLSQSVRQA LHSGQNQLKE MAIPVLEARA CAAAGQSGLM ALYEAMFTQY SICAAQILVT NLDFHDEQKR RNLNGTLHEL LRMNIVPIVN TNDAVVPPAE PNSDLQGVNV ISVKDNDSLA ARLAVEMKTD LLIVLSDVEG LFDSPPGSDD AKLIDIFYPG DQQSVTFGTK SRVGMGGMEA KVKAALWALQ GGTSVVIANG THPKVSGHVI TDIVEGKKVG TFFSEVKPAG PTVEQQGEMA RSGGRMLATL EPEQRAEIIH HLADLLTDQR DEILLANKKD LEEAEGRLAA PLLKRLSLST SKLNSLAIGL RQIAASSQDS VGRVLRRTRI AKNLELEQVT VPIGVLLVIF ESRPDCLPQV AALAIASGNG LLLKGGKEAA HSNRILHLLT QEALSIHGVK EAVQLVNTRE EVEDLCRLDK MIDLIIPRGS SQLVRDIQKA AKGIPVMGHS EGICHMYVDS EASVDKVTRL VRDSKCEYPA ACNALETLLI HRDLLRTPLF DQIIDMLRVE QVKIHAGPKF ASYLTFSPSE VKSLRTEYGD LELCIEVVDN VQDAIDHIHK YGSSHTDVIV TEDENTAEFF LQHVDSACVF WNASTRFSDG YRFGLGAEVG ISTSRIHARG PVGLEGLLTT KWLLRGKDHV VSDFSEHGSL KYLHENLPIP QRNTN
form :
Liquid containing glycerol; lyophilization may be available upon request.
storage stability :
Store at -20 degrees C. For long-term storage, store at -20 degrees C or -80 degrees C. Store working aliquots at 4 degrees C for up to one week. Repeated freezing and thawing is not recommended.
other info1 :
Species: Homo sapiens (Human)
ncbi acc num :
NP_001017423.1
ncbi gb acc num :
NM_001017423.1
ncbi mol weight :
87,089 Da
ncbi pathways :
Amino Acid Synthesis And Interconversion (transamination) Pathway (106173); Arginine And Proline Metabolism Pathway (82957); Arginine And Proline Metabolism Pathway (323); Biosynthesis Of Amino Acids Pathway (790012); Biosynthesis Of Amino Acids Pathway (795174); Metabolic Pathways (132956); Metabolism Pathway (477135); Metabolism Of Amino Acids And Derivatives Pathway (106169); Proline Biosynthesis, Glutamate = Proline Pathway (413349); Proline Biosynthesis, Glutamate = Proline Pathway (468208)
ncbi summary :
This gene is a member of the aldehyde dehydrogenase family and encodes a bifunctional ATP- and NADPH-dependent mitochondrial enzyme with both gamma-glutamyl kinase and gamma-glutamyl phosphate reductase activities. The encoded protein catalyzes the reduction of glutamate to delta1-pyrroline-5-carboxylate, a critical step in the de novo biosynthesis of proline, ornithine and arginine. Mutations in this gene lead to hyperammonemia, hypoornithinemia, hypocitrullinemia, hypoargininemia and hypoprolinemia and may be associated with neurodegeneration, cataracts and connective tissue diseases. Alternatively spliced transcript variants, encoding different isoforms, have been described for this gene. [provided by RefSeq, Jul 2008]
uniprot summary :
ALDH18A1: Bifunctional enzyme that converts glutamate to glutamate 5-semialdehyde, an intermediate in the biosynthesis of proline, ornithine and arginine. Defects in ALDH18A1 are the cause of cutis laxa, autosomal recessive, type 3A (ARCL3A). A syndrome characterized by facial dysmorphism with a progeroid appearance, large and late-closing fontanel, cutis laxa, joint hyperlaxity, athetoid movements and hyperreflexia, pre- and postnatal growth retardation, intellectual deficit, developmental delay, and ophthalmologic abnormalities. 2 isoforms of the human protein are produced by alternative splicing. Protein type: Mitochondrial; Kinase, other; Amino Acid Metabolism - arginine and proline; Oxidoreductase; EC 2.7.2.11; EC 1.2.1.41. Chromosomal Location of Human Ortholog: 10q24.3. Cellular Component: mitochondrion; cytoplasm; mitochondrial inner membrane. Molecular Function: glutamate 5-kinase activity; glutamate-5-semialdehyde dehydrogenase activity; ATP binding. Biological Process: citrulline biosynthetic process; glutamate metabolic process; proline biosynthetic process; ornithine biosynthetic process; amino acid biosynthetic process; phosphorylation. Disease: Cutis Laxa, Autosomal Recessive, Type Iiia
size2 :
0.05 mg (Baculovirus)
size4 :
0.05 mg (Mammalian-Cell)