Rabbit anti-Human HRPT2 / CDC73 Polyclonal Antibody

Uniprot Id

Q6P1J9

Target Species

Human

Target Name

CDC73

Target Full Name

Parafibromin

Target Function

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.

Target Involvement

Hyperparathyroidism 1 (HRPT1); Hyperparathyroidism 2 with jaw tumors (HRPT2); Parathyroid carcinoma (PRTC)

Target Subcellular Location

Nucleus.

Target Protein Families

CDC73 family

Target Tissue Specificity

Found in adrenal and parathyroid glands, kidney and heart.

Target Synonyms

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

Target Background

This gene encodes a tumor suppressor that is involved in transcriptional and post-transcriptional control pathways. The protein is a component of the the PAF protein complex, which associates with the RNA polymerase II subunit POLR2A and with a histone methyltransferase complex. This protein appears to facilitate the association of 3' mRNA processing factors with actively-transcribed chromatin. Mutations in this gene have been linked to hyperparathyroidism-jaw tumor syndrome, familial isolated hyperparathyroidism, and parathyroid carcinoma.