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parafibromin; hyperparathyroidism 2 protein; cell division cycle protein 73 homolog (CDC73, C1orf28, HRPT2)
Function:
1) tumor suppressor
2) role in transcriptional & posttranscriptional control pathways
3) cell cycle progression via the regulation of cyclin D1/PRAD1 expression
4) part of the PAF1 complex
5) interacts with:
a) RNA polymerase 2 large subunit (RPB1)
b) Set1-like complex that has histone methyltransferase activity & methylates histone H3
Expression: adrenal & parathyroid glands, kidney & heart.
Pathology:
- defects in CDC73 are a cause familial hyperparathyroidism types 1 & 2
Related
hyperparathyroidism
General
nuclear protein
Properties
SIZE: MW = 61 kD
entity length = 531 aa
COMPARTMENT: cell nucleus
MOTIF: nuclear translocation signal {125-139}
Database Correlations
OMIM correlations
MORBIDMAP 607393
UniProt Q6P1J9
Pfam PF05179
References
- OMIM :accession 607393
- UniProt :accession Q6P1J9
Component-of
PAF1 complex