产品货号 :  mlR19000

英文名称 :  NAF1

中文名称 :  核组装因子1核糖核蛋白抗体

别    名 :  H/ACA ribonucleoprotein complex non-core subunit NAF1; hNAF1; Naf1; NAF1_HUMAN; Nuclear assembly factor 1 homolog; Nuclear assembly factor 1 ribonucleoprotein.  

研究领域 :  细胞生物  转录调节因子  表观遗传学  

抗体来源 :  Rabbit

克隆类型 :  Polyclonal

交叉反应 :  Human, Mouse, Rat,

产品应用 :  ELISA=1:500-1000 IHC-P=1:400-800 IHC-F=1:400-800 ICC=1:100-500 IF=1:100-500 （石蜡切片需做抗原修复）
not yet tested in other applications.
optimal dilutions/concentrations should be determined by the end user.

分 子 量 :  54kDa

细胞定位 :  细胞核 细胞浆

性    状 :  Lyophilized or Liquid

浓    度 :  1mg/ml

免 疫 原 :  KLH conjugated synthetic peptide derived from human NAF1:301-400/494

亚    型 :  IgG

纯化方法 :  affinity purified by Protein A

储 存 液 :  0.01M TBS(pH7.4) with 1% BSA, 0.03% Proclin300 and 50% Glycerol.

保存条件 :  Store at -20 °C for one year. Avoid repeated freeze/thaw cycles. The lyophilized antibody is stable at room temperature for at least one month and for greater than a year when kept at -20°C. When reconstituted in sterile pH 7.4 0.01M PBS or diluent of antibody the antibody is stable for at least two weeks at 2-4 °C.

PubMed :  PubMed

产品介绍 :   NAF1 is a 494 amino acid RNA-binding protein belonging to the NAF1 family. Encoded by a gene that maps to human chromosome 4q32.2, NAF1 associates with mature RNA in cell lysates and is essential for ribosome biogenesis, premessenger RNA splicing, stable RNA accumulation, maturation of box snoRNP complexes and telomere maintenance. NAF1 mobilizes at the site of transcription where it binds to and escorts the core protein Dyskerin between the nucleus and cytoplasm. NAF1 is replaced by GAR1, which binds competitively with NAF1, resulting in mature RNPs in Cajal bodies and nucleoli. NAF1 delocalizes to the cytoplasm during overexpression but NAF1 shuttling properties continue to be operative. Dyskeratosis congenita mutations in human telomerase RNA may affect NAF1 assembly function.

Function:

Transcriptional modulator activated by BMP (bone morphogenetic proteins) type 1 receptor kinase. SMAD1 is a receptor-regulated SMAD (R-SMAD). SMAD1/OAZ1/PSMB4 complex mediates the degradation of the CREBBP/EP300 repressor SNIP1.

Subunit:

Interacts with HGS, NANOG and ZCCHC12 By similarity. May form trimers with another SMAD1 and the co-SMAD SMAD4. Interacts with PEBP2-alpha subunit, CREB-binding protein (CBP), p300, SMURF1, SMURF2, USP15 and HOXC8. Associates with ZNF423 or ZNF521 in response to BMP2 leading to activate transcription of BMP target genes. Interacts with SKOR1. Interacts (via MH2 domain) with LEMD3. Binding to LEMD3 results in at least a partial reduction of receptor-mediated phosphorylation. Forms a ternary complex with PSMB4 and OAZ1 before PSMB4 is incorporated into the 20S proteasome.

Subcellular Location:

Cytoplasm. Nucleus. Shuttles between the cytoplasm and the nucleus. Absent from the nucleolus.

Tissue Specificity:

Ubiquitous. Highest expression seen in the heart and skeletal muscle.

Post-translational modifications:

Phosphorylated on serine by BMP type 1 receptor kinase. Ref.11 Ref.22 Ubiquitinated by SMAD-specific E3 ubiquitin ligase SMURF1, leading to its degradation. Monoubiquitinated, leading to prevent DNA-binding.

Deubiquitination by USP15 alleviates inhibition and promotes activation of TGF-beta target genes.

DISEASE:

SMAD1 variants may be associated with susceptibility to pulmonary hypertension, a disorder characterized by plexiform lesions of proliferating endothelial cells in pulmonary arterioles. The lesions lead to elevated pulmonary arterial pression, right ventricular failure, and death. The disease can occur from infancy throughout life and it has a mean age at onset of 36 years. Penetrance is reduced. Although familial pulmonary hypertension is rare, cases secondary to known etiologies are more common and include those associated with the appetite-suppressant drugs.

Similarity:

Belongs to the dwarfin/SMAD family.

Contains 1 MH1 (MAD homology 1) domain.

Contains 1 MH2 (MAD homology 2) domain.

SWISS:

Q96HR8

Gene ID:

92345

Important Note:

This product as supplied is intended for research use only, not for use in human, therapeutic or diagnostic applications.