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  4. Recombinant Human Parafibromin (CDC73)

Recombinant Human Parafibromin (CDC73)

  • 货号：
    CSB-YP750783HU
  • 规格：
  • 来源：
    Yeast
  • 其他：
  • 货号：
    CSB-EP750783HU
  • 规格：
  • 来源：
    E.coli
  • 其他：
  • 货号：
    CSB-EP750783HU-B
  • 规格：
  • 来源：
    E.coli
  • 共轭：
    Avi-tag Biotinylated

    E. coli biotin ligase (BirA) is highly specific in covalently attaching biotin to the 15 amino acid AviTag peptide. This recombinant protein was biotinylated in vivo by AviTag-BirA technology, which method is BriA catalyzes amide linkage between the biotin and the specific lysine of the AviTag.

  • 其他：
  • 货号：
    CSB-BP750783HU
  • 规格：
  • 来源：
    Baculovirus
  • 其他：
  • 货号：
    CSB-MP750783HU
  • 规格：
  • 来源：
    Mammalian cell
  • 其他：

产品详情

  • 纯度：
    >85% (SDS-PAGE)
  • 基因名：
    CDC73
  • Uniprot No.：
  • 别名：
    C1orf28; CDC 73; Cdc73; CDC73_HUMAN; Cell division cycle 73; Cell division cycle 73 Paf1/RNA polymerase II complex component homolog; Cell division cycle 73 Paf1/RNA polymerase II complex component like protein; Cell division cycle protein 73 homolog; FIHP; FLJ23316; HPT JT; HPTJT; HRPT 2; HRPT1; HRPT2; Hyperparathyroidism 2 (with jaw tumor); Hyperparathyroidism 2; Hyperparathyroidism 2 protein; HYX; Paf1/RNA polymerase II complex component; Parafibromin
  • 种属：
    Homo sapiens (Human)
  • 蛋白长度：
    Full Length of Mature Protein
  • 表达区域：
    2-531
  • 氨基酸序列
    ADVLSVLRQ YNIQKKEIVV KGDEVIFGEF SWPKNVKTNY VVWGTGKEGQ PREYYTLDSI LFLLNNVHLS HPVYVRRAAT ENIPVVRRPD RKDLLGYLNG EASTSASIDR SAPLEIGLQR STQVKRAADE VLAEAKKPRI EDEECVRLDK ERLAARLEGH KEGIVQTEQI RSLSEAMSVE KIAAIKAKIM AKKRSTIKTD LDDDITALKQ RSFVDAEVDV TRDIVSRERV WRTRTTILQS TGKNFSKNIF AILQSVKARE EGRAPEQRPA PNAAPVDPTL RTKQPIPAAY NRYDQERFKG KEETEGFKID TMGTYHGMTL KSVTEGASAR KTQTPAAQPV PRPVSQARPP PNQKKGSRTP IIIIPAATTS LITMLNAKDL LQDLKFVPSD EKKKQGCQRE NETLIQRRKD QMQPGGTAIS VTVPYRVVDQ PLKLMPQDWD RVVAVFVQGP AWQFKGWPWL LPDGSPVDIF AKIKAFHLKY DEVRLDPNVQ KWDVTVLELS YHKRHLDRPV FLRFWETLDR YMVKHKSHLR F
  • 蛋白标签：
    Tag type will be determined during the manufacturing process.
    The tag type will be determined during production process. If you have specified tag type, please tell us and we will develop the specified tag preferentially.
  • 产品提供形式：
    Lyophilized powder
    Note: We will preferentially ship the format that we have in stock, however, if you have any special requirement for the format, please remark your requirement when placing the order, we will prepare according to your demand.
  • 复溶：
    We recommend that this vial be briefly centrifuged prior to opening to bring the contents to the bottom. Please reconstitute protein in deionized sterile water to a concentration of 0.1-1.0 mg/mL.We recommend to add 5-50% of glycerol (final concentration) and aliquot for long-term storage at -20℃/-80℃. Our default final concentration of glycerol is 50%. Customers could use it as reference.
  • 储存条件：
    Store at -20°C/-80°C upon receipt, aliquoting is necessary for mutiple use. Avoid repeated freeze-thaw cycles.
  • 保质期：
    The shelf life is related to many factors, storage state, buffer ingredients, storage temperature and the stability of the protein itself.
    Generally, the shelf life of liquid form is 6 months at -20°C/-80°C. The shelf life of lyophilized form is 12 months at -20°C/-80°C.
  • 货期：
    Delivery time may differ from different purchasing way or location, please kindly consult your local distributors for specific delivery time.
    Note: All of our proteins are default shipped with normal blue ice packs, if you request to ship with dry ice, please communicate with us in advance and extra fees will be charged.
  • 注意事项：
    Repeated freezing and thawing is not recommended. Store working aliquots at 4°C for up to one week.
  • Datasheet ：
    Please contact us to get it.

产品评价

靶点详情

  • 功能：
    Tumor suppressor probably involved in transcriptional and post-transcriptional control pathways. May be involved in cell cycle progression through the regulation of cyclin D1/PRAD1 expression. Component of the PAF1 complex (PAF1C) which has multiple functions during transcription by RNA polymerase II and is implicated in regulation of development and maintenance of embryonic stem cell pluripotency. PAF1C associates with RNA polymerase II through interaction with POLR2A CTD non-phosphorylated and 'Ser-2'- and 'Ser-5'-phosphorylated forms and is involved in transcriptional elongation, acting both independently and synergistically with TCEA1 and in cooperation with the DSIF complex and HTATSF1. PAF1C is required for transcription of Hox and Wnt target genes. PAF1C is involved in hematopoiesis and stimulates transcriptional activity of KMT2A/MLL1; it promotes leukemogenesis through association with KMT2A/MLL1-rearranged oncoproteins, such as KMT2A/MLL1-MLLT3/AF9 and KMT2A/MLL1-MLLT1/ENL. PAF1C is involved in histone modifications such as ubiquitination of histone H2B and methylation on histone H3 'Lys-4' (H3K4me3). PAF1C recruits the RNF20/40 E3 ubiquitin-protein ligase complex and the E2 enzyme UBE2A or UBE2B to chromatin which mediate monoubiquitination of 'Lys-120' of histone H2B (H2BK120ub1); UB2A/B-mediated H2B ubiquitination is proposed to be coupled to transcription. PAF1C is involved in mRNA 3' end formation probably through association with cleavage and poly(A) factors. In case of infection by influenza A strain H3N2, PAF1C associates with viral NS1 protein, thereby regulating gene transcription. Connects PAF1C with the cleavage and polyadenylation specificity factor (CPSF) complex and the cleavage stimulation factor (CSTF) complex, and with Wnt signaling. Involved in polyadenylation of mRNA precursors.
  • 基因功能参考文献：
    1. post-transcriptional down-regulation of CDC73 contributed to cellular senescence. PMID: 29621547
    2. The HPT-JT syndrome - multiple Parathyroid Adenomas, Parathyroid Carcinomas in 15% of patients, as well as Fibro-osseous Jaw tumours (in 35% of patients) results from mutations of the CDC73 (HRPT2) gene (encoding parafibromin). PMID: 27864865
    3. CDC73 mutations are major driver mutations in the etiology of parathyroid carcinomas (PCs). PMID: 28881068
    4. Each of these autosomal dominant syndromes results from a specific germline mutation in unique genes: MEN1 is due to pathogenic MEN1 variants (11q13), MEN2A and MEN2B are due to pathogenic RET variants (10q11.21), MEN4 is due to pathogenic CDKN1B variants (12p13.1), and the HPT-JT syndrome is due to pathogenic CDC73 variants (1q25). PMID: 28674121
    5. Recurrent Hyperparathyroidism Due to a Novel CDC73 Splice Mutation. PMID: 28394026
    6. Pathogenic germline CDC73 variants were identified in primary hyperparathyroidism patients, with (suspected) hyperparathyroidism-jaw tumor syndrome familial isolated primary hyperparathyroidism and apparently sporadic parathyroid carcinoma PMID: 29040582
    7. Data suggest that down-regulated parafibromin (HRPT2; CDC73) expression might be closely linked to colorectal carcinogenesis and cancer differentiation. PMID: 28223542
    8. A novel deletion of exons 4 to 10 of CDC73 was detected by CNV analysis in the three affecteds. A novel insertion in the 5'UTR (c.-4_-11insG) that co-segregated with the deletion was identified. PMID: 28774260
    9. Germline mutation of HRPT2 is associated with parathyroid carcinoma. PMID: 27544721
    10. parafibromin downregulation might promote the pathogenesis, dedifferentiation and metastasis of ovarian cancers possibly by suppressing aggressive phenotypes, such as proliferation, cell cycle, apoptosis, migration and invasion. PMID: 26409451
    11. We suggest that parafibromin may be a possible prognostic and predictive parameter for breast carcinomas PMID: 26832176
    12. These findings suggest that downregulated expression of parafibromin protein plays an important role in the pathogenesis, differentiation, and metastasis of head and neck squamous cell carcinomas PMID: 26124004
    13. Parafibromin interacted with JAK1/2, promoted the interactions of JAK1-JAK2 and JAK1/2-STAT1, and promoted tyrosine phosphorylation of STAT1 by JAKs after IFN-gamma stimulation. PMID: 26232434
    14. targets and destabilizes p53 mRNA to control p53-mediated apoptosis PMID: 25388829
    15. Data report a novel mutation in the CDC73 gene that may underlie HPT-JT syndrome. PMID: 25113791
    16. 3 unrelated Chinese families with familial isolated primary hyperparathyroidism and 1 with hyperparathyroidism-jaw tumour syndrome were described; genetic analysis revealed 4 germline mutations that were responsible for the 4 kindreds including 2 novel point mutations, 1 recurrent point mutation and 1 deletion mutation PMID: 24716902
    17. gene expression profiling experiments suggest that upregulated FGFR1 expression appears to be associated with parathyroid carcinoma in HPT-JT syndrome due to an HRPT2 splicing mutation PMID: 24889687
    18. A previously unreported intragenic deletion of exons 1 to 10 of CDC73 was detected in a three-generation family with familial primary hyperparathyroidism with parathyroid carcinoma. PMID: 24823466
    19. Mutations within the nucleolar localisation signals of the CDC73 gene led to instability either of the corresponding mutated protein or mRNA or both. PMID: 24340015
    20. Negative parafibromin staining is associated with malignant behavior in atypical parathyroid adenomas. PMID: 24081804
    21. Genetic analysis of a patient with hyperparathyroidism-jaw tumor revealed a novel nonsense mutation in exon 1 of CDC73 PMID: 23757631
    22. Data indicate that overexpression of Wilms tumor 1 gene (WT1) decreased CDC73 levels and promoted proliferation of oral squamous cell carcinoma (OSCC) cells. PMID: 24257751
    23. We present three siblings with familial isolated hyperparathyroidism due to solitary parathyroid adenoma and favorable evolution post-parathyroidectomy. Genetic tests revealed HRPT2 mutation. PMID: 24121387
    24. High parafibromin expression is associated with colorectal carcinomas. PMID: 23991985
    25. Twenty cases of CCPRCC were stained for parafibromin and showed diffuse and strong nuclear positivity for this marker PMID: 23060304
    26. The contribution of HRPT2 inactivation to the pathogenesis of OF, FD, and OS is marginal at best and may be limited to progression rather than tumor initiation. PMID: 23453027
    27. CDC73 mutations and negative immunostaining were common in atypical parathyroid adenomas PMID: 22987117
    28. we have firstly demonstrated the high prevalence of HRPT2/CDC mutations and loss of expression of its corresponding protein in clinically sporadic parathyroid carcinomas in Chinese population. PMID: 23029104
    29. Oncogenic microRNA-155 down-regulates tumor suppressor CDC73 and promotes oral squamous cell carcinoma cell proliferation PMID: 23166327
    30. CDC73-mutated carcinomas displayed losses in chromosome 1p and loss of the entire chromosome 13 which are not seen in CDC73-mutated adenomas. PMID: 23029479
    31. Complete loss of parafibromin expression was seen in 9 of 15 (60%) carcinomas, and all normal parathyroid tissues and parathyroid benign tumors stained positive for parafibromin except for one (4%) adenoma. PMID: 22932087
    32. germ-line inactivating mutations in CDC73 gene are common in young patients with clinically non-familial primary hyperparathyroidism PMID: 22187299
    33. identified one novel germline mutation CDC73 NM_024529.4: c.1475G > A; NP_078805.3: p.Trp492X and one novel somatic mutation CDC73 NM_024529.4: c.142G > T; NP_078805.3: p.Glu48X associated with parathyroid neoplasm PMID: 21732217
    34. These results suggest that not only HRPT2 but also MEN1 mutations may play a role in sporadic parathyroid cancer formation. PMID: 17555500
    35. Mutational analysis of the CDC73 gene identified 8 sequence changes, 3 of them have been reported previously, whereas 5 are novel: c.1346delG, c.88_94delTTCTCCT, non-coding variants, c.307+5G>T and c.424-5T>C and c.*12C>A of unknown significance. PMID: 21652691
    36. Parafibromin expression could be employed to indicate the favorable prognosis of patients with adenocarcinoma. PMID: 21692036
    37. It was suggested that parafibromin overexpression might suppress cell cycle progression and promote differentiation of DLD-1 cells. PMID: 21315421
    38. The demonstrated absence of nucleolar parafibromin in three carcinomas with HRPT2 mutations suggests that parafibromin exhibits nucleolar tumour suppressor properties also in vivo. PMID: 21221636
    39. Downregulation of CASR expression and global loss of parafibromin staining are strong negative determinants of prognosis in parathyroid carcinoma PMID: 21240254
    40. Detected HRPT2 mutation in parathyroid carcinoma or atypical parathyroid adenoma in sporadic hyperparathyroidism in Thai patients. PMID: 21717873
    41. The present data suggests that patients with apparently sporadic parathyroid carcinomas, or parathyroid tumors with atypical histological features, should undergo molecular genetic testing, as it may detect germline HRPT2 mutations. PMID: 21360064
    42. HRPT2 (replaced with this gene ID 79577) gene mutation may be associated with tumor recurrence. PMID: 20480190
    43. analysis of the cell division cycle protein 73 homolog (CDC73) mutations in the hyperparathyroidism-jaw tumor syndrome (HPT-JT) and parathyroid tumors PMID: 20052758
    44. The stability of the altered HRPT2 transcripts and translation products produced in the hyperparathyroidim-jaw tumors syndrome, was investigated. PMID: 20541447
    45. The simultaneous loss of nucleolar localization and acquisition of a growth stimulatory phenotype with the L95P mutation raise the possibility that parafibromin must interact with targets in the nucleolus to fully execute its tumor suppressor functions. PMID: 20304979
    46. Alternative mechanisms such as mutation in intronic regions, additional epigenetic regulation, or other regulatory inactivation mechanisms may play a role in the loss of parafibromin expression. PMID: 20026646
    47. This gene is now identified as associated with the hyperparathyroidism-jaw tumor syndrome. PMID: 12434154
    48. It is hypothesised that HRPT2 mutation is an early event that may lead to parathyroid malignancy and suggest intragenic mutation of HRPT2 as a marker of malignant potential in both familial and sporadic parathyroid tumours. PMID: 12960210
    49. among 32 familial isolated hyperparathyroidism families, only a single one was found to have a mutation in parafibromin (HRPT2) gene PMID: 14715834
    50. genotype phenotype analysis in familial isolated hyperparathyroidism PMID: 14985373

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  • 相关疾病：
    Hyperparathyroidism 1 (HRPT1); Hyperparathyroidism 2 with jaw tumors (HRPT2); Parathyroid carcinoma (PRTC)
  • 亚细胞定位：
    Nucleus.
  • 蛋白家族：
    CDC73 family
  • 组织特异性：
    Found in adrenal and parathyroid glands, kidney and heart.
  • 数据库链接：

    HGNC: 16783

    OMIM: 145000

    KEGG: hsa:79577

    STRING: 9606.ENSP00000356405

    UniGene: Hs.378996