CDC73
entrez
79577
canonical
uniprot
Q6P1J9
canonical
ensembl
ENSG00000134371
resolver
ensp
ENSP00000356405
resolver
ensp
ENSP00000628368
resolver
ensp
ENSP00000784973
resolver
enst
ENST00000367435
resolver
enst
ENST00000958309
resolver
genesymbol
CDC73
resolver
genesymbol_syn
C1orf28
resolver
genesymbol_syn
HRPT2
resolver
hgnc
HGNC:16783
resolver
uniprot
A6NLZ8
resolver
uniprot
B2RBR2
resolver
uniprot
Q6PK51
resolver
uniprot
Q96A07
resolver
uniprot
Q9H245
resolver
uniprot
Q9H5L7
resolver
uniprot_entry
CDC73_HUMAN
resolver
uniprot_sec
A6NLZ8
resolver
uniprot_sec
B2RBR2
resolver
uniprot_sec
Q6PK51
resolver
uniprot_sec
Q96A07
resolver
uniprot_sec
Q9H245
resolver
uniprot_sec
Q9H5L7
resolver
amino_acid_sequence
MADVLSVLRQYNIQKKEIVVKGDEVIFGEFSWPKNVKTNYVVWGTGKEGQPREYYTLDSILFLLNNVHLSHPVYVRRAATENIPVVRRPDRKDLLGYLNGEASTSASIDRSAPLEIGLQRSTQVKRAADEVLAEAKKPRIEDEECVRLDKERLAARLEGHKEGIVQTEQIRSLSEAMSVEKIAAIKAKIMAKKRSTIKTDLDDDITALKQRSFVDAEVDVTRDIVSRERVWRTRTTILQSTGKNFSKNIFAILQSVKAREEGRAPEQRPAPNAAPVDPTLRTKQPIPAAYNRYDQERFKGKEETEGFKIDTMGTYHGMTLKSVTEGASARKTQTPAAQPVPRPVSQARPPPNQKKGSRTPIIIIPAATTSLITMLNAKDLLQDLKFVPSDEKKKQGCQRENETLIQRRKDQMQPGGTAISVTVPYRVVDQPLKLMPQDWDRVVAVFVQGPAWQFKGWPWLLPDGSPVDIFAKIKAFHLKYDEVRLDPNVQKWDVTVLELSYHKRHLDRPVFLRFWETLDRYMVKHKSHLRF
uniprot
proteins
disease_involvement
DISEASE: Hyperparathyroidism 1 (HRPT1) [MIM:145000]: An autosomal dominant disorder characterized by hypercalcemia, elevated parathyroid hormone (PTH) levels, and uniglandular or multiglandular parathyroid hyperplasia, adenomas, and carcinomas. {ECO:0000269|PubMed:12434154, ECO:0000269|PubMed:12960210, ECO:0000269|PubMed:15632063, ECO:0000269|PubMed:16487440, ECO:0000269|PubMed:18755853}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Hyperparathyroidism 2 with jaw tumors (HRPT2) [MIM:145001]: An autosomal dominant neoplasia syndrome characterized by primary hyperparathyroidism, ossifying fibroma of the maxilla and/or mandible, renal tumor, and uterine tumors. It is associated with increased risk of parathyroid cancer. {ECO:0000269|PubMed:12434154, ECO:0000269|PubMed:15613436, ECO:0000269|PubMed:16487440}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Parathyroid carcinoma (PRTC) [MIM:608266]: These cancers characteristically result in more profound clinical manifestations of hyperparathyroidism than do parathyroid adenomas, the most frequent cause of primary hyperparathyroidism. Early en bloc resection of the primary tumor is the only curative treatment. {ECO:0000269|PubMed:14585940}. Note=The gene represented in this entry is involved in disease pathogenesis.
uniprot
proteins
function
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. {ECO:0000269|PubMed:15580289, ECO:0000269|PubMed:15632063, ECO:0000269|PubMed:15923622, ECO:0000269|PubMed:16630820, ECO:0000269|PubMed:16989776, ECO:0000269|PubMed:19136632, ECO:0000269|PubMed:19952111, ECO:0000269|PubMed:20178742, ECO:0000269|PubMed:20541477, ECO:0000269|PubMed:21329879}.
uniprot
proteins
mass_dalton
60577
uniprot
proteins
post_translational_modification
PTM: Phosphorylated. Dephosphorylated by PTPN11. {ECO:0000269|PubMed:26742426}.
uniprot
proteins
protein_family
CDC73 family
uniprot
proteins
pubmed
11318611
uniprot
proteins
pubmed
12434154
uniprot
proteins
pubmed
12960210
uniprot
proteins
pubmed
14585940
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
15580289
uniprot
proteins
pubmed
15613436
uniprot
proteins
pubmed
15632063
uniprot
proteins
pubmed
15923622
uniprot
proteins
pubmed
16116486
uniprot
proteins
pubmed
16487440
uniprot
proteins
pubmed
16630820
uniprot
proteins
pubmed
16710414
uniprot
proteins
pubmed
16728578
uniprot
proteins
pubmed
16989776
uniprot
proteins
pubmed
17113272
uniprot
proteins
pubmed
17130827
uniprot
proteins
pubmed
17555500
uniprot
proteins
pubmed
17639062
uniprot
proteins
pubmed
18669648
uniprot
proteins
pubmed
18755853
uniprot
proteins
pubmed
19136632
uniprot
proteins
pubmed
19952111
uniprot
proteins
pubmed
20068231
uniprot
proteins
pubmed
20178742
uniprot
proteins
pubmed
20541477
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
21329879
uniprot
proteins
pubmed
22223895
uniprot
proteins
pubmed
22814378
uniprot
proteins
pubmed
23186163
uniprot
proteins
pubmed
25218447
uniprot
proteins
pubmed
26742426
uniprot
proteins
pubmed
28112733
uniprot
proteins
pubmed
30550790
uniprot
proteins
sequence_length
531
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:15580289, ECO:0000269|PubMed:15632063, ECO:0000269|PubMed:15923622}.
uniprot
proteins