catalog number :
MBS717059
products type :
Recombinant Protein
products full name :
Recombinant human Active regulator of SIRT1 protein
products short name :
Active regulator of SIRT1 protein
other names :
Homo sapiens ribosomal protein S19 (RPS19), mRNA; 40S ribosomal protein S19; 40S ribosomal protein S19; ribosomal protein S19
other gene names :
RPS19; RPS19; DBA; S19; DBA1
uniprot entry name :
RS19_HUMAN
sequence :
MPGVTVKDVNQQEFVRALAAFLKKSGKLKVPEWVDTVKL
AKHKELAPYDENWFYTRAASTARHLYLRGGAGVGSMTKI
YGGRQRNGVMPSHFSRGSKSVARRVLQALEGLKMVEKDQ
DGGRKLTPQGQRDLDRIAGQVAAANKKH
storage stability :
Store at -20 degree C. For extended storage, conserve at -20 or -80 degree C.
ncbi acc num :
NP_001013.1
ncbi gb acc num :
NM_001022.3
ncbi pathways :
Activation Of The MRNA Upon Binding Of The Cap-binding Complex And EIFs, And Subsequent Binding To 43S Pathway 105970!!Cap-dependent Translation Initiation Pathway 105967!!Cytoplasmic Ribosomal Proteins Pathway 198853!!Disease Pathway 530764!!Eukaryotic Translation Elongation Pathway 105976!!Eukaryotic Translation Initiation Pathway 105966!!Eukaryotic Translation Termination Pathway 105978!!Formation Of A Pool Of Free 40S Subunits Pathway 105968!!Formation Of The Ternary Complex, And Subsequently, The 43S Complex Pathway 105969!!GTP Hydrolysis And Joining Of The 60S Ribosomal Subunit Pathway 105973
ncbi summary :
Ribosomes, the organelles that catalyze protein synthesis, consist of a small 40S subunit and a large 60S subunit. Together these subunits are composed of 4 RNA species and approximately 80 structurally distinct proteins. This gene encodes a ribosomal protein that is a component of the 40S subunit. The protein belongs to the S19E family of ribosomal proteins. It is located in the cytoplasm. Mutations in this gene cause Diamond-Blackfan anemia (DBA), a constitutional erythroblastopenia characterized by absent or decreased erythroid precursors, in a subset of patients. This suggests a possible extra-ribosomal function for this gene in erythropoietic differentiation and proliferation, in addition to its ribosomal function. Higher expression levels of this gene in some primary colon carcinomas compared to matched normal colon tissues has been observed. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through the genome. [provided by RefSeq, Jul 2008]
uniprot summary :
Function: Required for pre-rRNA processing and maturation of 40S ribosomal subunits. Ref.8. Subunit structure: Interacts with RPS19BP1 . By similarity. Subcellular location: Nucleus. Note: Located more specifically in the nucleoli. Ref.9 Ref.15. Tissue specificity: Higher level expression is seen in the colon carcinoma tissue than normal colon tissue. Involvement in disease: Defects in RPS19 are the cause of Diamond-Blackfan anemia type 1 (DBA1) [. MIM:105650]. DBA1 is a form of Diamond-Blackfan anemia, a congenital non-regenerative hypoplastic anemia that usually presents early in infancy. Diamond-Blackfan anemia is characterized by a moderate to severe macrocytic anemia, erythroblastopenia, and an increased risk of malignancy. 30 to 40% of Diamond-Blackfan anemia patients present with short stature and congenital anomalies, the most frequent being craniofacial (Pierre-Robin syndrome and cleft palate), thumb and urogenital anomalies. Ref.2 Ref.9 Ref.13 Ref.14 Ref.15 Ref.16 Ref.17 Ref.18. Sequence similarities: Belongs to the ribosomal protein S19e family.