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Q6P1J9

- CDC73_HUMAN

UniProt

Q6P1J9 - CDC73_HUMAN

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Protein

Parafibromin

Gene

CDC73

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli

Functioni

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 indepentently 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.10 Publications

GO - Molecular functioni

  1. RNA polymerase II core binding Source: UniProtKB

GO - Biological processi

  1. cell cycle Source: UniProtKB-KW
  2. cellular response to lipopolysaccharide Source: UniProtKB
  3. endodermal cell fate commitment Source: UniProtKB
  4. histone H2B ubiquitination Source: UniProtKB
  5. histone monoubiquitination Source: UniProtKB
  6. mRNA polyadenylation Source: UniProtKB
  7. negative regulation of cell proliferation Source: UniProtKB
  8. negative regulation of epithelial cell proliferation Source: UniProtKB
  9. negative regulation of fibroblast proliferation Source: UniProtKB
  10. negative regulation of G1/S transition of mitotic cell cycle Source: UniProtKB
  11. negative regulation of myeloid cell differentiation Source: UniProtKB
  12. negative regulation of transcription from RNA polymerase II promoter Source: UniProtKB
  13. positive regulation of mRNA 3'-end processing Source: UniProtKB
  14. positive regulation of transcription elongation from RNA polymerase II promoter Source: UniProtKB
  15. positive regulation of transcription from RNA polymerase II promoter Source: UniProtKB
  16. positive regulation of Wnt signaling pathway Source: UniProtKB
  17. protein destabilization Source: UniProtKB
  18. stem cell maintenance Source: UniProtKB
  19. transcription, DNA-templated Source: UniProtKB-KW
  20. Wnt signaling pathway Source: UniProtKB-KW
Complete GO annotation...

Keywords - Biological processi

Cell cycle, Transcription, Transcription regulation, Wnt signaling pathway

Enzyme and pathway databases

ReactomeiREACT_200753. formation of the beta-catenin:TCF transactivating complex.
SignaLinkiQ6P1J9.

Names & Taxonomyi

Protein namesi
Recommended name:
Parafibromin
Alternative name(s):
Cell division cycle protein 73 homolog
Hyperparathyroidism 2 protein
Gene namesi
Name:CDC73
Synonyms:C1orf28, HRPT2
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640: Chromosome 1

Organism-specific databases

HGNCiHGNC:16783. CDC73.

Subcellular locationi

Nucleus 3 Publications

GO - Cellular componenti

  1. Cdc73/Paf1 complex Source: UniProtKB
  2. nucleus Source: UniProtKB
Complete GO annotation...

Keywords - Cellular componenti

Nucleus

Pathology & Biotechi

Involvement in diseasei

Familial isolated hyperparathyroidism (FIHP) [MIM:145000]: Autosomal dominant disorder characterized by hypercalcemia, elevated parathyroid hormone (PTH) levels, and uniglandular or multiglandular parathyroid tumors.2 Publications
Note: The disease is caused by mutations affecting the gene represented in this entry.
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti64 – 641L → P in FIHP; does not affect interaction with the Pfa1 complex. 2 Publications
VAR_024082
Hyperparathyroidism-jaw tumor syndrome (HPT-JT) [MIM:145001]: Autosomal dominant, multiple neoplasia syndrome primarily characterized by hyperparathyroidism due to parathyroid tumors. Thirty percent of individuals with HPT-JT may also develop ossifying fibromas, primarily of the mandible and maxilla, which are distinct from the brown tumors associated with severe hyperparathyroidism. Kidney lesions may also occur in HPT-JT as bilateral cysts, renal hamartomas or Wilms tumors.3 Publications
Note: The disease is caused by mutations affecting the gene represented in this entry.
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti379 – 3791D → N in HPT-JT. 1 Publication
VAR_064936
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.1 Publication
Note: The gene represented in this entry is involved in disease pathogenesis.

Keywords - Diseasei

Disease mutation, Tumor suppressor

Organism-specific databases

MIMi145000. phenotype.
145001. phenotype.
608266. phenotype.
Orphaneti99879. Familial isolated hyperparathyroidism.
99877. Familial parathyroid adenoma.
99880. Hyperparathyroidism-jaw tumor syndrome.
143. Parathyroid carcinoma.
PharmGKBiPA29464.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Initiator methioninei1 – 11Removed3 Publications
Chaini2 – 531530ParafibrominPRO_0000191803Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Modified residuei2 – 21N-acetylalanine3 Publications
Modified residuei212 – 2121Phosphoserine2 Publications

Keywords - PTMi

Acetylation, Phosphoprotein

Proteomic databases

MaxQBiQ6P1J9.
PaxDbiQ6P1J9.
PRIDEiQ6P1J9.

PTM databases

PhosphoSiteiQ6P1J9.

Expressioni

Tissue specificityi

Found in adrenal and parathyroid glands, kidney and heart.1 Publication

Gene expression databases

BgeeiQ6P1J9.
CleanExiHS_CDC73.
GenevestigatoriQ6P1J9.

Organism-specific databases

HPAiCAB016359.

Interactioni

Subunit structurei

Component of the PAF1 complex, which consists of CDC73, PAF1, LEO1, CTR9, RTF1 and WDR61. Interacts with POLR2A, CPSF1, CPSF4, CSTF2, KMT2A/MLL1 and CTNNB1. Interacts with a Set1-like complex that has histone methyltransferase activity and methylates histone H3. Found in a complex with BCL9L or BCL9, CDC73, CTNNB1 and PYGO1 indicative for the participation in a nuclear Wnt signaling complex.8 Publications

Binary interactionsi

WithEntry#Exp.IntActNotes
BCL9O005122EBI-930143,EBI-533127
CTNNB1P352229EBI-930143,EBI-491549
CTR9Q6PD6215EBI-930143,EBI-1019583
KMT2AQ031644EBI-930143,EBI-591370
LEO1Q8WVC011EBI-930143,EBI-932432
PAF1Q8N7H525EBI-930143,EBI-2607770
POLR2AP249285EBI-930143,EBI-295301
RTF1Q9254112EBI-930143,EBI-1055239

Protein-protein interaction databases

BioGridi122724. 59 interactions.
DIPiDIP-37884N.
IntActiQ6P1J9. 36 interactions.
MINTiMINT-2817439.
STRINGi9606.ENSP00000356405.

Structurei

3D structure databases

ProteinModelPortaliQ6P1J9.
SMRiQ6P1J9. Positions 358-523.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Region

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Regioni200 – 531332Interaction with POLR2A and PAF1Add
BLAST
Regioni200 – 25051Interaction with CTNNB1Add
BLAST

Motif

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Motifi125 – 13915Nuclear localization signalAdd
BLAST

Compositional bias

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Compositional biasi361 – 3644Poly-Ile

Sequence similaritiesi

Belongs to the CDC73 family.Curated

Phylogenomic databases

eggNOGiCOG5157.
GeneTreeiENSGT00390000001114.
HOVERGENiHBG055033.
InParanoidiQ6P1J9.
KOiK15175.
OMAiEYYTLEC.
OrthoDBiEOG7KM5SP.
PhylomeDBiQ6P1J9.
TreeFamiTF313016.

Family and domain databases

InterProiIPR007852. RNA_pol_access_fac_Cdc73.
[Graphical view]
PANTHERiPTHR12466. PTHR12466. 1 hit.
PfamiPF05179. CDC73. 1 hit.
[Graphical view]

Sequencei

Sequence statusi: Complete.

Sequence processingi: The displayed sequence is further processed into a mature form.

Q6P1J9 [UniParc]FASTAAdd to Basket

« Hide

        10         20         30         40         50
MADVLSVLRQ YNIQKKEIVV KGDEVIFGEF SWPKNVKTNY VVWGTGKEGQ
60 70 80 90 100
PREYYTLDSI LFLLNNVHLS HPVYVRRAAT ENIPVVRRPD RKDLLGYLNG
110 120 130 140 150
EASTSASIDR SAPLEIGLQR STQVKRAADE VLAEAKKPRI EDEECVRLDK
160 170 180 190 200
ERLAARLEGH KEGIVQTEQI RSLSEAMSVE KIAAIKAKIM AKKRSTIKTD
210 220 230 240 250
LDDDITALKQ RSFVDAEVDV TRDIVSRERV WRTRTTILQS TGKNFSKNIF
260 270 280 290 300
AILQSVKARE EGRAPEQRPA PNAAPVDPTL RTKQPIPAAY NRYDQERFKG
310 320 330 340 350
KEETEGFKID TMGTYHGMTL KSVTEGASAR KTQTPAAQPV PRPVSQARPP
360 370 380 390 400
PNQKKGSRTP IIIIPAATTS LITMLNAKDL LQDLKFVPSD EKKKQGCQRE
410 420 430 440 450
NETLIQRRKD QMQPGGTAIS VTVPYRVVDQ PLKLMPQDWD RVVAVFVQGP
460 470 480 490 500
AWQFKGWPWL LPDGSPVDIF AKIKAFHLKY DEVRLDPNVQ KWDVTVLELS
510 520 530
YHKRHLDRPV FLRFWETLDR YMVKHKSHLR F
Length:531
Mass (Da):60,577
Last modified:July 5, 2004 - v1
Checksum:i894A7448DBC0E793
GO

Sequence cautioni

The sequence AAH07325.1 differs from that shown. Reason: Contaminating sequence. Potential poly-A sequence starting in position 300.
The sequence BAB15608.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.

Experimental Info

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti123 – 1231Q → G in AAH14351. (PubMed:15489334)Curated
Sequence conflicti184 – 1874AIKA → CNQT in BAB15608. (PubMed:14702039)Curated
Sequence conflicti372 – 3721I → K in BAB15608. (PubMed:14702039)Curated

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti2 – 21A → S Found in parathyroid adenoma samples; somatic mutation; parathyroid adenoma samples are from a patient with isolated hyperparathyroidism who also carries germline mutation P-91. 1 Publication
VAR_064927
Natural varianti5 – 106Missing Found in a parathyroid carcinoma sample; somatic mutation; parathyroid carcinoma sample is from a patient with hyperparathyroidism-jaw tumor syndrome who also carries a germline mutation causing a splicing defect. 1 Publication
VAR_064928
Natural varianti34 – 341K → Q Found in a clear cell renal carcinoma sample; somatic mutation; unlike wild-type protein the mutant is defective in suppressing CCND1 expression in vivo. 1 Publication
VAR_064929
Natural varianti59 – 591S → F Found in a parathyroid carcinoma sample; somatic mutation. 1 Publication
VAR_064930
Natural varianti63 – 631L → P Found in a kindred with familial hyperparathyroidism. 1 Publication
VAR_064931
Natural varianti64 – 641L → P in FIHP; does not affect interaction with the Pfa1 complex. 2 Publications
VAR_024082
Natural varianti91 – 911R → P Found in a patient with isolated hyperparathyroidism and parathyroid adenomas. 1 Publication
VAR_064932
Natural varianti95 – 951L → P Found in a parathyroid adenoma sample; somatic mutation; parathyroid adenoma sample is from a patient with familial hyperparathyroidism who also carries a germline frameshift mutation. 1 Publication
VAR_064933
Natural varianti272 – 2721N → S Found in a parathyroid adenoma sample. 1 Publication
VAR_064934
Natural varianti292 – 2921R → K Found in a Wilms tumor sample; somatic mutation. 1 Publication
VAR_064935
Natural varianti379 – 3791D → N in HPT-JT. 1 Publication
VAR_064936
Natural varianti384 – 3841L → P.
Corresponds to variant rs35590728 [ dbSNP | Ensembl ].
VAR_031825

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
AF312865 mRNA. Translation: AAG45339.1.
AK026969 mRNA. Translation: BAB15608.1. Different initiation.
AK314772 mRNA. Translation: BAG37309.1.
AL139133, AL390863 Genomic DNA. Translation: CAH71049.1.
AL390863, AL139133 Genomic DNA. Translation: CAH71589.1.
CH471067 Genomic DNA. Translation: EAW91250.1.
BC007325 mRNA. Translation: AAH07325.1. Sequence problems.
BC014351 mRNA. Translation: AAH14351.2.
BC065037 mRNA. Translation: AAH65037.1.
CCDSiCCDS1382.1.
RefSeqiNP_078805.3. NM_024529.4.
UniGeneiHs.378996.

Genome annotation databases

EnsembliENST00000367435; ENSP00000356405; ENSG00000134371.
GeneIDi79577.
KEGGihsa:79577.
UCSCiuc001gtb.3. human.

Polymorphism databases

DMDMi74749063.

Cross-referencesi

Web resourcesi

Atlas of Genetics and Cytogenetics in Oncology and Haematology

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
AF312865 mRNA. Translation: AAG45339.1 .
AK026969 mRNA. Translation: BAB15608.1 . Different initiation.
AK314772 mRNA. Translation: BAG37309.1 .
AL139133 , AL390863 Genomic DNA. Translation: CAH71049.1 .
AL390863 , AL139133 Genomic DNA. Translation: CAH71589.1 .
CH471067 Genomic DNA. Translation: EAW91250.1 .
BC007325 mRNA. Translation: AAH07325.1 . Sequence problems.
BC014351 mRNA. Translation: AAH14351.2 .
BC065037 mRNA. Translation: AAH65037.1 .
CCDSi CCDS1382.1.
RefSeqi NP_078805.3. NM_024529.4.
UniGenei Hs.378996.

3D structure databases

ProteinModelPortali Q6P1J9.
SMRi Q6P1J9. Positions 358-523.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 122724. 59 interactions.
DIPi DIP-37884N.
IntActi Q6P1J9. 36 interactions.
MINTi MINT-2817439.
STRINGi 9606.ENSP00000356405.

PTM databases

PhosphoSitei Q6P1J9.

Polymorphism databases

DMDMi 74749063.

Proteomic databases

MaxQBi Q6P1J9.
PaxDbi Q6P1J9.
PRIDEi Q6P1J9.

Protocols and materials databases

DNASUi 79577.
Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000367435 ; ENSP00000356405 ; ENSG00000134371 .
GeneIDi 79577.
KEGGi hsa:79577.
UCSCi uc001gtb.3. human.

Organism-specific databases

CTDi 79577.
GeneCardsi GC01P193090.
GeneReviewsi CDC73.
HGNCi HGNC:16783. CDC73.
HPAi CAB016359.
MIMi 145000. phenotype.
145001. phenotype.
607393. gene.
608266. phenotype.
neXtProti NX_Q6P1J9.
Orphaneti 99879. Familial isolated hyperparathyroidism.
99877. Familial parathyroid adenoma.
99880. Hyperparathyroidism-jaw tumor syndrome.
143. Parathyroid carcinoma.
PharmGKBi PA29464.
GenAtlasi Search...

Phylogenomic databases

eggNOGi COG5157.
GeneTreei ENSGT00390000001114.
HOVERGENi HBG055033.
InParanoidi Q6P1J9.
KOi K15175.
OMAi EYYTLEC.
OrthoDBi EOG7KM5SP.
PhylomeDBi Q6P1J9.
TreeFami TF313016.

Enzyme and pathway databases

Reactomei REACT_200753. formation of the beta-catenin:TCF transactivating complex.
SignaLinki Q6P1J9.

Miscellaneous databases

ChiTaRSi CDC73. human.
GeneWikii CDC73.
GenomeRNAii 79577.
NextBioi 68562.
PROi Q6P1J9.
SOURCEi Search...

Gene expression databases

Bgeei Q6P1J9.
CleanExi HS_CDC73.
Genevestigatori Q6P1J9.

Family and domain databases

InterProi IPR007852. RNA_pol_access_fac_Cdc73.
[Graphical view ]
PANTHERi PTHR12466. PTHR12466. 1 hit.
Pfami PF05179. CDC73. 1 hit.
[Graphical view ]
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  1. "Cloning and characterization of 13 novel transcripts and the human RGS8 gene from the 1q25 region encompassing the hereditary prostate cancer (HPC1) locus."
    Sood R., Bonner T.I., Malakowska I., Stephan D.A., Robbins C.M., Connors T.D., Morgenbesser S.D., Su K., Faruque M.U., Pinkett H., Graham C., Baxevanis A.D., Klinger K.W., Landes G.M., Trent J.M., Carpten J.D.
    Genomics 73:211-222(2001) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA].
  2. "Complete sequencing and characterization of 21,243 full-length human cDNAs."
    Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.
    , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.
    Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
  3. "The DNA sequence and biological annotation of human chromosome 1."
    Gregory S.G., Barlow K.F., McLay K.E., Kaul R., Swarbreck D., Dunham A., Scott C.E., Howe K.L., Woodfine K., Spencer C.C.A., Jones M.C., Gillson C., Searle S., Zhou Y., Kokocinski F., McDonald L., Evans R., Phillips K.
    , Atkinson A., Cooper R., Jones C., Hall R.E., Andrews T.D., Lloyd C., Ainscough R., Almeida J.P., Ambrose K.D., Anderson F., Andrew R.W., Ashwell R.I.S., Aubin K., Babbage A.K., Bagguley C.L., Bailey J., Beasley H., Bethel G., Bird C.P., Bray-Allen S., Brown J.Y., Brown A.J., Buckley D., Burton J., Bye J., Carder C., Chapman J.C., Clark S.Y., Clarke G., Clee C., Cobley V., Collier R.E., Corby N., Coville G.J., Davies J., Deadman R., Dunn M., Earthrowl M., Ellington A.G., Errington H., Frankish A., Frankland J., French L., Garner P., Garnett J., Gay L., Ghori M.R.J., Gibson R., Gilby L.M., Gillett W., Glithero R.J., Grafham D.V., Griffiths C., Griffiths-Jones S., Grocock R., Hammond S., Harrison E.S.I., Hart E., Haugen E., Heath P.D., Holmes S., Holt K., Howden P.J., Hunt A.R., Hunt S.E., Hunter G., Isherwood J., James R., Johnson C., Johnson D., Joy A., Kay M., Kershaw J.K., Kibukawa M., Kimberley A.M., King A., Knights A.J., Lad H., Laird G., Lawlor S., Leongamornlert D.A., Lloyd D.M., Loveland J., Lovell J., Lush M.J., Lyne R., Martin S., Mashreghi-Mohammadi M., Matthews L., Matthews N.S.W., McLaren S., Milne S., Mistry S., Moore M.J.F., Nickerson T., O'Dell C.N., Oliver K., Palmeiri A., Palmer S.A., Parker A., Patel D., Pearce A.V., Peck A.I., Pelan S., Phelps K., Phillimore B.J., Plumb R., Rajan J., Raymond C., Rouse G., Saenphimmachak C., Sehra H.K., Sheridan E., Shownkeen R., Sims S., Skuce C.D., Smith M., Steward C., Subramanian S., Sycamore N., Tracey A., Tromans A., Van Helmond Z., Wall M., Wallis J.M., White S., Whitehead S.L., Wilkinson J.E., Willey D.L., Williams H., Wilming L., Wray P.W., Wu Z., Coulson A., Vaudin M., Sulston J.E., Durbin R.M., Hubbard T., Wooster R., Dunham I., Carter N.P., McVean G., Ross M.T., Harrow J., Olson M.V., Beck S., Rogers J., Bentley D.R.
    Nature 441:315-321(2006) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  4. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  5. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
    The MGC Project Team
    Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
    Tissue: Eye and Urinary bladder.
  6. Cited for: PROTEIN SEQUENCE OF 2-9; 38-47; 78-87; 111-120; 127-136; 172-181; 212-222; 235-243; 248-257; 332-342; 379-385 AND 400-407, CLEAVAGE OF INITIATOR METHIONINE, ACETYLATION AT ALA-2, IDENTIFICATION BY MASS SPECTROMETRY.
    Tissue: Embryonic kidney and Ovarian carcinoma.
  7. Cited for: FUNCTION, INTERACTION WITH PAF1; LEO1 AND POLR2A, INTERACTION WITH SET1-LIKE COMPLEX, SUBCELLULAR LOCATION, CHARACTERIZATION OF VARIANT FIHP PRO-64.
  8. "The HRPT2 tumor suppressor gene product parafibromin associates with human PAF1 and RNA polymerase II."
    Yart A., Gstaiger M., Wirbelauer C., Pecnik M., Anastasiou D., Hess D., Krek W.
    Mol. Cell. Biol. 25:5052-5060(2005) [PubMed] [Europe PMC] [Abstract]
    Cited for: FUNCTION, SUBCELLULAR LOCATION, INTERACTION WITH PAF1 AND POLR2A.
  9. "Parafibromin, product of the hyperparathyroidism-jaw tumor syndrome gene HRPT2, regulates cyclin D1/PRAD1 expression."
    Woodard G.E., Lin L., Zhang J.-H., Agarwal S.K., Marx S.J., Simonds W.F.
    Oncogene 24:1272-1276(2005) [PubMed] [Europe PMC] [Abstract]
    Cited for: FUNCTION, TISSUE SPECIFICITY, SUBCELLULAR LOCATION.
  10. "Identification of a functional bipartite nuclear localization signal in the tumor suppressor parafibromin."
    Hahn M.A., Marsh D.J.
    Oncogene 24:6241-6248(2005) [PubMed] [Europe PMC] [Abstract]
    Cited for: CHARACTERIZATION OF NUCLEAR LOCALIZATION SIGNAL.
  11. Cited for: INVOLVEMENT IN HPT-JT, VARIANT FIHP PRO-64.
  12. Cited for: INVOLVEMENT IN PRTC.
  13. Cited for: FUNCTION.
  14. "Parafibromin/Hyrax activates Wnt/Wg target gene transcription by direct association with beta-catenin/Armadillo."
    Mosimann C., Hausmann G., Basler K.
    Cell 125:327-341(2006) [PubMed] [Europe PMC] [Abstract]
    Cited for: FUNCTION, INTERACTION WITH CTNNB1.
  15. "BCL9-2 binds Arm/beta-catenin in a Tyr142-independent manner and requires Pygopus for its function in Wg/Wnt signaling."
    Hoffmans R., Basler K.
    Mech. Dev. 124:59-67(2007) [PubMed] [Europe PMC] [Abstract]
    Cited for: IDENTIFICATION IN A COMPLEX WITH BCL9L; CTNNB1 AND PYGO1.
  16. Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-212, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
    Tissue: Cervix carcinoma.
  17. "DSIF, the Paf1 complex, and Tat-SF1 have nonredundant, cooperative roles in RNA polymerase II elongation."
    Chen Y., Yamaguchi Y., Tsugeno Y., Yamamoto J., Yamada T., Nakamura M., Hisatake K., Handa H.
    Genes Dev. 23:2765-2777(2009) [PubMed] [Europe PMC] [Abstract]
    Cited for: IDENTIFICATION IN THE PAF1 COMPLEX, FUNCTION OF THE PAF1 COMPLEX.
  18. "The tumor suppressor Cdc73 functionally associates with CPSF and CstF 3' mRNA processing factors."
    Rozenblatt-Rosen O., Nagaike T., Francis J.M., Kaneko S., Glatt K.A., Hughes C.M., LaFramboise T., Manley J.L., Meyerson M.
    Proc. Natl. Acad. Sci. U.S.A. 106:755-760(2009) [PubMed] [Europe PMC] [Abstract]
    Cited for: FUNCTION, INTERACTION WITH CPSF1; CPSF4 AND CSTF2.
  19. "The PAF complex synergizes with MLL fusion proteins at HOX loci to promote leukemogenesis."
    Muntean A.G., Tan J., Sitwala K., Huang Y., Bronstein J., Connelly J.A., Basrur V., Elenitoba-Johnson K.S., Hess J.L.
    Cancer Cell 17:609-621(2010) [PubMed] [Europe PMC] [Abstract]
    Cited for: FUNCTION OF THE PAF1 COMPLEX, INTERACTION WITH KMT2A.
  20. "The human PAF1 complex acts in chromatin transcription elongation both independently and cooperatively with SII/TFIIS."
    Kim J., Guermah M., Roeder R.G.
    Cell 140:491-503(2010) [PubMed] [Europe PMC] [Abstract]
    Cited for: IDENTIFICATION IN THE PAF1 COMPLEX, COMPOSITION OF THE PAF1 COMPLEX, FUNCTION OF THE PAF1 COMPLEX.
  21. "Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis."
    Olsen J.V., Vermeulen M., Santamaria A., Kumar C., Miller M.L., Jensen L.J., Gnad F., Cox J., Jensen T.S., Nigg E.A., Brunak S., Mann M.
    Sci. Signal. 3:RA3-RA3(2010) [PubMed] [Europe PMC] [Abstract]
    Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-212, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
    Tissue: Cervix carcinoma.
  22. Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
  23. "Transcriptional activators enhance polyadenylation of mRNA precursors."
    Nagaike T., Logan C., Hotta I., Rozenblatt-Rosen O., Meyerson M., Manley J.L.
    Mol. Cell 41:409-418(2011) [PubMed] [Europe PMC] [Abstract]
    Cited for: FUNCTION, FUNCTION OF THE PAF1 COMPLEX.
  24. "Comparative large-scale characterisation of plant vs. mammal proteins reveals similar and idiosyncratic N-alpha acetylation features."
    Bienvenut W.V., Sumpton D., Martinez A., Lilla S., Espagne C., Meinnel T., Giglione C.
    Mol. Cell. Proteomics 11:M111.015131-M111.015131(2012) [PubMed] [Europe PMC] [Abstract]
    Cited for: ACETYLATION [LARGE SCALE ANALYSIS] AT ALA-2, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
  25. Cited for: ACETYLATION [LARGE SCALE ANALYSIS] AT ALA-2, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
  26. Cited for: VARIANT FIHP PRO-64.
  27. "A Novel IVS2-1G>A mutation causes aberrant splicing of the HRPT2 gene in a family with hyperparathyroidism-jaw tumor syndrome."
    Moon S.D., Park J.H., Kim E.M., Kim J.H., Han J.H., Yoo S.J., Yoon K.H., Kang M.I., Lee K.W., Son H.Y., Kang S.K., Oh S.J., Kim K.M., Yoon S.J., Park J.G., Kim I.J., Kang H.C., Hong S.W., Kim K.R., Cha B.Y.
    J. Clin. Endocrinol. Metab. 90:878-883(2005) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT 5-LEU--GLN-10 DEL, INVOLVEMENT IN HPT-JT.
  28. Cited for: VARIANT HPT-JT ASN-379, VARIANT PRO-95, ASSOCIATION WITH FIHP.
  29. Cited for: VARIANT SER-272, ASSOCIATION WITH PARATHYROID ADENOMA.
  30. "Identification of MEN1 and HRPT2 somatic mutations in paraffin-embedded (sporadic) parathyroid carcinomas."
    Haven C.J., van Puijenbroek M., Tan M.H., Teh B.T., Fleuren G.J., van Wezel T., Morreau H.
    Clin. Endocrinol. (Oxf.) 67:370-376(2007) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT PHE-59, ASSOCIATION WITH PARATHYROID CARCINOMA.
  31. "Different somatic alterations of the HRPT2 gene in a patient with recurrent sporadic primary hyperparathyroidism carrying an HRPT2 germline mutation."
    Cetani F., Pardi E., Ambrogini E., Viacava P., Borsari S., Lemmi M., Cianferotti L., Miccoli P., Pinchera A., Arnold A., Marcocci C.
    Endocr. Relat. Cancer 14:493-499(2007) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANTS SER-2 AND PRO-91, ASSOCIATION WITH PARATHYROID ADENOMA.
  32. "Sporadic human renal tumors display frequent allelic imbalances and novel mutations of the HRPT2 gene."
    Zhao J., Yart A., Frigerio S., Perren A., Schraml P., Weisstanner C., Stallmach T., Krek W., Moch H.
    Oncogene 26:3440-3449(2007) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANTS GLN-34 AND LYS-292, CHARACTERIZATION OF VARIANT GLN-34, ASSOCIATION WITH RENAL TUMORS.
  33. "Clinical, genetic, and histopathologic investigation of CDC73-related familial hyperparathyroidism."
    Masi G., Barzon L., Iacobone M., Viel G., Porzionato A., Macchi V., De Caro R., Favia G., Palu G.
    Endocr. Relat. Cancer 15:1115-1126(2008) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT PRO-63, ASSOCIATION WITH FIHP.

Entry informationi

Entry nameiCDC73_HUMAN
AccessioniPrimary (citable) accession number: Q6P1J9
Secondary accession number(s): A6NLZ8
, B2RBR2, Q6PK51, Q96A07, Q9H245, Q9H5L7
Entry historyi
Integrated into UniProtKB/Swiss-Prot: December 20, 2005
Last sequence update: July 5, 2004
Last modified: October 29, 2014
This is version 118 of the entry and version 1 of the sequence. [Complete history]
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Direct protein sequencing, Reference proteome

Documents

  1. Human chromosome 1
    Human chromosome 1: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. SIMILARITY comments
    Index of protein domains and families

External Data

Dasty 3