Human IMPDH1 Recombinant Protein (RPPB1850)

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SKU:
RPPB1850
Product type:
Recombinant Protein
Size:
10ug
Species:
Human
Target:
IMPDH1
Synonyms:
EC 111205
Synonyms:
IMP (inosine monophosphate) dehydrogenase 1
Synonyms:
LCA11
Synonyms:
RP10
Source:
Escherichia Coli
Uniprot:
P20839
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Description

Product Name:Human IMPDH1 Recombinant Protein
Product Code:RPPB1850
Size:10µg
Species:Human
Target:IMPDH1
Synonyms:EC 1.1.1.205, IMP (inosine monophosphate) dehydrogenase 1, LCA11, RP10, IMPDH 1, IMPD 1, IMPDH-I, SwSS2608, DKFZp781N0678.
Source:Escherichia Coli
Physical Appearance:Sterile filtered colorless solution.
Formulation:IMPDH1 Human solution containing 20mM Tris-HCl pH-8, 1mM DTT & 20% 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 95.0% as determined by SDS-PAGE.
Amino Acid Sequence:MGSSHHHHHH SSGLVPRGSH MADYLISGGT GYVPEDGLTA QQLFASADGL TYNDFLILPG FIDFIADEVD LTSALTRKIT LKTPLISSPM DTVTEADMAI AMALMGGIGF IHHNCTPEFQ ANEVRKVKKF EQGFITDPVV LSPSHTVGDV LEAKMRHGFS GIPITETGTM GSKLVGIVTS RDIDFLAEKD HTTLLSEVMT PRIELVVAPA GVTLKEANEI LQRSKKGKLP IVNDCDELVA IIARTDLKKN RDYPLASKDS QKQLLCGAAV GTREDDKYRL DLLTQAGVDV IVLDSSQGNS VYQIAMVHYI KQKYPHLQVI GGNVVTAAQA KNLIDAGVDG LRVGMGCGSI CITQEVMACG RPQGTAVYKV AEYARRFGVP IIADGGIQTV GHVVKALALG ASTVMMGSLL AATTEAPGEY FFSDGVRLKK YRGMGSLDAM EKSSSSQKRY FSEGDKVKIA QGVSGSIQDK GSIQKFVPYL IAGIQHGCQD IGARSLSVLR SMMYSGELKF EKRTMSAQIE GGVHGLHSYE KRLY

IMPDH1 is a rate limiting enzyme in the de novo synthesis of guanine nucleotides and consequently participates in the regulation of cell growth. IMPDH1 takes part in the development of malignancy and the growth progression of some tumors. IMPDH1 performs as a homotetramer to regulate cell growth. IMPDH1 catalyzes the synthesis of xanthine monophosphate (XMP) from inosine-5''-monophosphate (IMP). Defects in this gene are a cause of retinitis pigmentosa type 10 (RP10).

IMPDH1 Recombinant Human produced in E.Coli is a single, non-glycosylated polypeptide chain containing 534 amino acids (1-514 a.a.) and having a molecular mass of 57.5 kDa. The IMPDH1 is fused to 20 amino acid His-Tag at N-terminus and purified by proprietary chromatographic techniques.

UniProt Protein Function:IMPDH1: Catalyzes the conversion of inosine 5'-phosphate (IMP) to xanthosine 5'-phosphate (XMP), the first committed and rate- limiting step in the de novo synthesis of guanine nucleotides, and therefore plays an important role in the regulation of cell growth. Could also have a single-stranded nucleic acid-binding activity and could play a role in RNA and/or DNA metabolism. It may also have a role in the development of malignancy and the growth progression of some tumors. Defects in IMPDH1 are the cause of retinitis pigmentosa type 10 (RP10). RP leads to degeneration of retinal photoreceptor cells. Patients typically have night vision blindness and loss of midperipheral visual field. As their condition progresses, they lose their far peripheral visual field and eventually central vision as well. RP10 inheritance is autosomal dominant. Defects in IMPDH1 are the cause of Leber congenital amaurosis type 11 (LCA11). LCA11 is a severe dystrophy of the retina, typically becoming evident in the first years of life. Visual function is usually poor and often accompanied by nystagmus, sluggish or near-absent pupillary responses, photophobia, high hyperopia and keratoconus. Belongs to the IMPDH/GMPR family. 4 isoforms of the human protein are produced by alternative splicing.
UniProt Protein Details:

Protein type:Oxidoreductase; Xenobiotic Metabolism - drug metabolism - other enzymes; Nucleotide Metabolism - purine; EC 1.1.1.205

Chromosomal Location of Human Ortholog: 7q31.3-q32

Cellular Component: cell junction; cytoplasm; cytosol; nucleoplasm; nucleus

Molecular Function:DNA binding; IMP dehydrogenase activity; nucleic acid binding

Biological Process: purine ribonucleoside monophosphate biosynthetic process

Disease: Leber Congenital Amaurosis 11; Retinitis Pigmentosa 10

NCBI Summary:The protein encoded by this gene acts as a homotetramer to regulate cell growth. The encoded protein is an enzyme that catalyzes the synthesis of xanthine monophosphate (XMP) from inosine-5'-monophosphate (IMP). This is the rate-limiting step in the de novo synthesis of guanine nucleotides. Defects in this gene are a cause of retinitis pigmentosa type 10 (RP10). Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2008]
UniProt Code:P20839
NCBI GenInfo Identifier:25014074
NCBI Gene ID:3614
NCBI Accession:P20839.2
UniProt Secondary Accession:P20839,Q8N194, Q96NU2, A4D0Z6, A4D0Z7, A6NDW5, A6NNI6 B3KNP7, B3KVM8, B4DE09, C9JV30, J3KNX8,
UniProt Related Accession:P20839
Molecular Weight:60,898 Da
NCBI Full Name:Inosine-5'-monophosphate dehydrogenase 1
NCBI Synonym Full Names:inosine monophosphate dehydrogenase 1
NCBI Official Symbol:IMPDH1  
NCBI Official Synonym Symbols:IMPD; RP10; IMPD1; LCA11; IMPDH-I; sWSS2608  
NCBI Protein Information:inosine-5'-monophosphate dehydrogenase 1
UniProt Protein Name:Inosine-5'-monophosphate dehydrogenase 1
UniProt Synonym Protein Names:IMPDH-I
Protein Family:Inosine-5'-monophosphate dehydrogenase
UniProt Gene Name:IMPDH1  
UniProt Entry Name:IMDH1_HUMAN
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