产品名称
CTDP1 Rabbit Polyclonal Antibody
别名
RNA polymerase II subunit A C-terminal domain phosphatase (EC 3.1.3.16) (TFIIF-associating CTD phosphatase)
存储缓冲液
Liquid in PBS containing 50% glycerol, 0.5% BSA and 0.255% New type preservative N.
Human Gene Link
https://www.uniprot.org/uniprot/9150
Human Swissprot No.
Q9Y5B0
Human Swissprot Link
https://www.uniprot.org/uniprotkb/Q9Y5B0/entry
Mouse Gene Link
https://www.uniprot.org/uniprot/67655
Mouse Swissprot No.
Q7TSG2
Mouse Swissprot Link
https://www.uniprot.org/uniprotkb/Q7TSG2
免疫原
Synthesized peptide derived from human CTDP1 AA range: 73-123
特异性
This antibody detects endogenous levels of CTDP1 at Human/Mouse
宿主
Polyclonal, Rabbit,IgG
背景介绍
This gene encodes a protein which interacts with the carboxy-terminus of the RAP74 subunit of transcription initiation factor TFIIF, and functions as a phosphatase that processively dephosphorylates the C-terminus of POLR2A (a subunit of RNA polymerase II), making it available for initiation of gene expression. Mutations in this gene are associated with congenital cataracts, facial dysmorphism and neuropathy syndrome (CCFDN). Alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Feb 2011],
组织表达
Ubiquitously expressed.
细胞定位
Nucleus . Cytoplasm, cytoskeleton, microtubule organizing center, centrosome . Cytoplasm, cytoskeleton, spindle pole . Midbody . Found at centrosomes in prometaphase, at spindle and spindle poles in metaphase and at spindle midzone and midbody in anaphase and telophase-G1 respectively.
功能
catalytic activity:A phosphoprotein + H(2)O = a protein + phosphate.,disease:Defects in CTDP1 are a cause of congenital cataracts facial dysmorphism and neuropathy syndrome (CCFDN) [MIM:604168]. CCFDN is an autosomal recessive developmental disorder that occurs in an endogamous group of Vlax Roma (Gypsies). The syndrome is characterized by a complex clinical phenotype with seemingly unrelated features involving multiple organs and systems. Developmental abnormalities include congenital cataracts and microcorneae, hypomyelination of the peripheral nervous system, impaired physical growth, delayed early motor and intellectual development, facial dysmorphism and hypogonadism. Central nervous system involvement, with cerebral and spinal cord atrophy, may be the result of disrupted development with superimposed degenerative changes. Affected individuals are prone to severe rhabdomyolysis after viral infections and to serious complications related to general anesthesia (such as pulmonary edema and epileptic seizures).,function:Processively dephosphorylates 'Ser-2' and 'Ser-5' of the heptad repeats YSPTSPS in the C-terminal domain of the largest RNA polymerase II subunit. This promotes the activity of RNA polymerase II.,PTM:Phosphorylated. In the presence of TFIIF, the phosphorylated form has an increased CTD phosphatase activity. The phosphorylation is required for the physical interaction with GTF2F1.,similarity:Contains 1 BRCT domain.,similarity:Contains 1 FCP1 homology domain.,subunit:Homodimer. Interacts with GTF2F1. Interacts with WDR77, SNRPB and SNRNP70.,tissue specificity:Ubiquitously expressed. Isoform 3 is expressed in heart, brain, placenta, lung, liver, skeletal muscle, kidney and placenta.,
纯化
The antibody was affinity-purified from rabbit antiserum by affinity-chromatography using epitope-specific immunogen.
