Q6P1J9 (CDC73_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
Parafibromin

Alternative name(s):
Cell division cycle protein 73 homolog
Hyperparathyroidism 2 protein

Gene names

Name:	CDC73
Synonyms:	C1orf28, HRPT2

Organism

Homo sapiens (Human)

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo

Protein attributes

Sequence length	531 AA.
Sequence status	Complete.
Sequence processing	The displayed sequence is further processed into a mature form.
Protein existence	Evidence at protein level

General annotation (Comments)

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. Ref.7 Ref.8 Ref.9
Subunit structure	Part of the PAF1 complex. Interacts with the RNA polymerase II large subunit (RPB1) and LEO1. Interacts with a Set1-like complex that has histone methyltransferase activity and methylates histone H3. Found in a complex with BCL9L, CDC73, CTNNB1 and PYGO1. Ref.7 Ref.8
Subcellular location	Nucleus Ref.7 Ref.9.
Tissue specificity	Found in adrenal and parathyroid glands, kidney and heart. Ref.9
Involvement in disease	Defects in CDC73 are a cause of familial isolated hyperparathyroidism (FIHP) [MIM:145000]; also known as hyperparathyroidism type 1 (HRPT1). FIHP is an autosomal dominant disorder characterized by hypercalcemia, elevated parathyroid hormone (PTH) levels, and uniglandular or multiglandular parathyroid tumors. Ref.7 Ref.11 Ref.17 Ref.19 Ref.24 Defects in CDC73 are the cause of hyperparathyroidism-jaw tumor syndrome (HPT-JT) [MIM:145001]; also known as hyperparathyroidism type 2 (HRPT2) or familial primary hyperparathyroidism with multiple ossifying jaw fibromas. HPT-JT is an 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 distinc from the brown tumors associated with severe hyperparathyroidism. Kidney lesions may also occur in HPT-JT as bilateral cysts, renal hamartomas or Wilms tumors. Ref.11 Ref.18 Ref.19 Defects in CDC73 are a cause of 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. Ref.12
Sequence similarities	Belongs to the CDC73 family.
Sequence caution	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.

Ontologies

Keywords
Biological process	Cell cycle Transcription
Cellular component	Nucleus
Disease	Disease mutation Tumor suppressor
PTM	Acetylation Phosphoprotein
Technical term	Complete proteome Direct protein sequencing Reference proteome
Gene Ontology (GO)
Biological process	cell cycle Inferred from electronic annotation. Source: UniProtKB-KW histone H2B ubiquitination Inferred from direct assay. Source: UniProtKB histone monoubiquitination Inferred from direct assay. Source: UniProtKB transcription, DNA-dependent Inferred from electronic annotation. Source: UniProtKB-KW
Cellular component	Cdc73/Paf1 complex Inferred from direct assay. Source: UniProtKB
Molecular function	protein binding Inferred from physical interaction. Source: IntAct
Complete GO annotation...

Binary interactions

With	Entry	#Exp.	IntAct	Notes
BCL9	O00512	2	EBI-930143,EBI-533127
CTNNB1	P35222	9	EBI-930143,EBI-491549
CTR9	Q6PD62	12	EBI-930143,EBI-1019583
LEO1	Q8WVC0	5	EBI-930143,EBI-932432
MLL	Q03164	4	EBI-930143,EBI-591370
PAF1	Q8N7H5	13	EBI-930143,EBI-2607770
RTF1	Q92541	10	EBI-930143,EBI-1055239

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Initiator methionine	1	1	Removed Ref.6
	Chain	2 – 531	530	Parafibromin		PRO_0000191803
Regions
	Motif	125 – 139	15	Nuclear localization signal Ref.10
	Compositional bias	361 – 364	4	Poly-Ile
Amino acid modifications
	Modified residue	2	1	N-acetylalanine Ref.6
	Modified residue	174	1	Phosphoserine Ref.14
	Modified residue	178	1	Phosphoserine Ref.14
	Modified residue	212	1	Phosphoserine Ref.15
Natural variations
	Natural variant	2	1	A → 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. Ref.22		VAR_064927
	Natural variant	5 – 10	6	Missing 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.		VAR_064928
	Natural variant	34	1	K → 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. Ref.23		VAR_064929
	Natural variant	59	1	S → F Found in a parathyroid carcinoma sample; somatic mutation. Ref.21		VAR_064930
	Natural variant	63	1	L → P Found in a kindred with familial hyperparathyroidism. Ref.24		VAR_064931
	Natural variant	64	1	L → P in FIHP; does not affect interaction with the Pfa1 complex. Ref.7 Ref.11 Ref.17		VAR_024082
	Natural variant	91	1	R → P Found in a patient with isolated hyperparathyroidism and parathyroid adenomas. Ref.22		VAR_064932
	Natural variant	95	1	L → 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. Ref.19		VAR_064933
	Natural variant	272	1	N → S Found in a parathyroid adenoma sample. Ref.20		VAR_064934
	Natural variant	292	1	R → K Found in a Wilms tumor sample; somatic mutation. Ref.23		VAR_064935
	Natural variant	379	1	D → N in HPT-JT. Ref.19		VAR_064936
	Natural variant	384	1	L → P. Corresponds to variant rs35590728 [ dbSNP | Ensembl ].		VAR_031825
Experimental info
	Sequence conflict	123	1	Q → G in AAH14351. Ref.5
	Sequence conflict	184 – 187	4	AIKA → CNQT in BAB15608. Ref.2
	Sequence conflict	372	1	I → K in BAB15608. Ref.2

Sequences

	Sequence		Length	Mass (Da)
	Q6P1J9 [UniParc]. Last modified July 5, 2004. Version 1. Checksum: 894A7448DBC0E793	FASTA	531	60,577
	10 20 30 40 50 60 MADVLSVLRQ YNIQKKEIVV KGDEVIFGEF SWPKNVKTNY VVWGTGKEGQ PREYYTLDSI 70 80 90 100 110 120 LFLLNNVHLS HPVYVRRAAT ENIPVVRRPD RKDLLGYLNG EASTSASIDR SAPLEIGLQR 130 140 150 160 170 180 STQVKRAADE VLAEAKKPRI EDEECVRLDK ERLAARLEGH KEGIVQTEQI RSLSEAMSVE 190 200 210 220 230 240 KIAAIKAKIM AKKRSTIKTD LDDDITALKQ RSFVDAEVDV TRDIVSRERV WRTRTTILQS 250 260 270 280 290 300 TGKNFSKNIF AILQSVKARE EGRAPEQRPA PNAAPVDPTL RTKQPIPAAY NRYDQERFKG 310 320 330 340 350 360 KEETEGFKID TMGTYHGMTL KSVTEGASAR KTQTPAAQPV PRPVSQARPP PNQKKGSRTP 370 380 390 400 410 420 IIIIPAATTS LITMLNAKDL LQDLKFVPSD EKKKQGCQRE NETLIQRRKD QMQPGGTAIS 430 440 450 460 470 480 VTVPYRVVDQ PLKLMPQDWD RVVAVFVQGP AWQFKGWPWL LPDGSPVDIF AKIKAFHLKY 490 500 510 520 530 DEVRLDPNVQ KWDVTVLELS YHKRHLDRPV FLRFWETLDR YMVKHKSHLR F

References

	« Hide 'large scale' referencesShow 'large scale' references »
[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: 11318611] [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: 14702039] [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: 16710414] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[4]	Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S., Turner R. , Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H., Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K., Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D., Hunkapiller M.W., Myers E.W., Venter J.C. Submitted (JUL-2005) to the EMBL/GenBank/DDBJ databases 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: 15489334] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA]. Tissue: Eye and Urinary bladder.
[6]	Bienvenut W.V., Lilla S., von Kriegsheim A., Lempens A., Kolch W., Ramsay A., Leung H.Y. Submitted (FEB-2008) to UniProtKB 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, MASS SPECTROMETRY. Tissue: Embryonic kidney and Ovarian carcinoma.
[7]	"The parafibromin tumor suppressor protein is part of a human Paf1 complex." Rozenblatt-Rosen O., Hughes C.M., Nannepaga S.J., Shanmugam K.S., Copeland T.D., Guszczynski T., Resau J.H., Meyerson M. Mol. Cell. Biol. 25:612-620(2005) [PubMed: 15632063] [Abstract] Cited for: FUNCTION, INTERACTION WITH PAF1 AND LEO1, INTERACTION WITH RNA POLYMERASE II, 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: 15923622] [Abstract] Cited for: FUNCTION, INTERACTION WITH PAF1, INTERACTION WITH RNA POLYMERASE II.
[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: 15580289] [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: 16116486] [Abstract] Cited for: CHARACTERIZATION OF NUCLEAR LOCALIZATION SIGNAL.
[11]	"HRPT2, encoding parafibromin, is mutated in hyperparathyroidism-jaw tumor syndrome." Carpten J.D., Robbins C.M., Villablanca A., Forsberg L., Presciuttini S., Bailey-Wilson J., Simonds W.F., Gillanders E.M., Kennedy A.M., Chen J.D., Agarwal S.K., Sood R., Jones M.P., Moses T.Y., Haven C., Petillo D., Leotlela P.D., Harding B. , Cameron D., Pannett A.A., Hoeoeg A., Heath H. III, James-Newton L.A., Robinson B., Zarbo R.J., Cavaco B.M., Wassif W., Perrier N.D., Rosen I.B., Kristoffersson U., Turnpenny P.D., Farnebo L.-O., Besser G.M., Jackson C.E., Morreau H., Trent J.M., Thakker R.V., Marx S.J., Teh B.T., Larsson C., Hobbs M.R. Nat. Genet. 32:676-680(2002) [PubMed: 12434154] [Abstract] Cited for: INVOLVEMENT IN HPT-JT, VARIANT FIHP PRO-64.
[12]	"Somatic and germ-line mutations of the HRPT2 gene in sporadic parathyroid carcinoma." Shattuck T.M., Vaelimaeki S., Obara T., Gaz R.D., Clark O.H., Shoback D., Wierman M.E., Tojo K., Robbins C.M., Carpten J.D., Farnebo L.-O., Larsson C., Arnold A. N. Engl. J. Med. 349:1722-1729(2003) [PubMed: 14585940] [Abstract] Cited for: INVOLVEMENT IN PRTC.
[13]	"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: 17113272] [Abstract] Cited for: IDENTIFICATION IN A COMPLEX WITH BCL9L; CTNNB1 AND PYGO1.
[14]	"Evaluation of the low-specificity protease elastase for large-scale phosphoproteome analysis." Wang B., Malik R., Nigg E.A., Korner R. Anal. Chem. 80:9526-9533(2008) [PubMed: 19007248] [Abstract] Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-174 AND SER-178, MASS SPECTROMETRY. Tissue: Cervix carcinoma.
[15]	"A quantitative atlas of mitotic phosphorylation." Dephoure N., Zhou C., Villen J., Beausoleil S.A., Bakalarski C.E., Elledge S.J., Gygi S.P. Proc. Natl. Acad. Sci. U.S.A. 105:10762-10767(2008) [PubMed: 18669648] [Abstract] Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-212, MASS SPECTROMETRY. Tissue: Cervix carcinoma.
[16]	"Initial characterization of the human central proteome." Burkard T.R., Planyavsky M., Kaupe I., Breitwieser F.P., Buerckstuemmer T., Bennett K.L., Superti-Furga G., Colinge J. BMC Syst. Biol. 5:17-17(2011) [PubMed: 21269460] [Abstract] Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
[17]	"HRPT2 mutations are associated with malignancy in sporadic parathyroid tumours." Howell V.M., Haven C.J., Kahnoski K., Khoo S.K., Petillo D., Chen J., Fleuren G.J., Robinson B.G., Delbridge L.W., Philips J., Nelson A.E., Krause U., Hammje K., Dralle H., Hoang-Vu C., Gimm O., Marsh D.J., Morreau H., Teh B.T. J. Med. Genet. 40:657-663(2003) [PubMed: 12960210] [Abstract] Cited for: VARIANT FIHP PRO-64.
[18]	"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: 15613436] [Abstract] Cited for: VARIANT 5-LEU--GLN-10 DEL, INVOLVEMENT IN HPT-JT.
[19]	"Parafibromin mutations in hereditary hyperparathyroidism syndromes and parathyroid tumours." Bradley K.J., Cavaco B.M., Bowl M.R., Harding B., Cranston T., Fratter C., Besser G.M., Conceicao Pereira M., Davie M.W., Dudley N., Leite V., Sadler G.P., Seller A., Thakker R.V. Clin. Endocrinol. (Oxf.) 64:299-306(2006) [PubMed: 16487440] [Abstract] Cited for: VARIANT HPT-JT ASN-379, VARIANT PRO-95, ASSOCIATION WITH FIHP.
[20]	"Loss of parafibromin expression in a subset of parathyroid adenomas." Juhlin C., Larsson C., Yakoleva T., Leibiger I., Leibiger B., Alimov A., Weber G., Hoog A., Villablanca A. Endocr. Relat. Cancer 13:509-523(2006) [PubMed: 16728578] [Abstract] Cited for: VARIANT SER-272, ASSOCIATION WITH PARATHYROID ADENOMA.
[21]	"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: 17555500] [Abstract] Cited for: VARIANT PHE-59, ASSOCIATION WITH PARATHYROID CARCINOMA.
[22]	"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: 17639062] [Abstract] Cited for: VARIANTS SER-2 AND PRO-91, ASSOCIATION WITH PARATHYROID ADENOMA.
[23]	"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: 17130827] [Abstract] Cited for: VARIANTS GLN-34 AND LYS-292, CHARACTERIZATION OF VARIANT GLN-34, ASSOCIATION WITH RENAL TUMORS.
[24]	"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: 18755853] [Abstract] Cited for: VARIANT PRO-63, ASSOCIATION WITH FIHP.
+	Additional computationally mapped references.

Web resources

Atlas of Genetics and Cytogenetics in Oncology and Haematology

GeneReviews

Cross-references

Sequence databases
EMBL GenBank DDBJ	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.
IPI	IPI00300659.
RefSeq	NP_078805.3. NM_024529.4.
UniGene	Hs.378996.
3D structure databases
ProteinModelPortal	Q6P1J9.
ModBase	Search...
Protein-protein interaction databases
DIP	DIP-37884N.
IntAct	Q6P1J9. 25 interactions.
STRING	Q6P1J9.
PTM databases
PhosphoSite	Q6P1J9.
Polymorphism databases
DMDM	74749063.
Proteomic databases
PRIDE	Q6P1J9.
Protocols and materials databases
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000367435; ENSP00000356405; ENSG00000134371.
GeneID	79577.
KEGG	hsa:79577.
UCSC	uc001gtb.1. human.
Organism-specific databases
CTD	79577.
GeneCards	GC01P193090.
H-InvDB	HIX0021545.
HGNC	HGNC:16783. CDC73.
HPA	CAB016359.
MIM	145000. phenotype. 145001. phenotype. 607393. gene. 608266. phenotype.
neXtProt	NX_Q6P1J9.
Orphanet	99879. Familial isolated hyperparathyroidism. 99877. Familial parathyroid adenoma. 99880. Hyperparathyroidism - jaw tumor syndrome. 143. Parathyroid carcinoma.
PharmGKB	PA29464.
GenAtlas	Search...
Phylogenomic databases
eggNOG	prNOG10539.
GeneTree	ENSGT00390000001114.
HOVERGEN	HBG055033.
InParanoid	Q6P1J9.
OMA	EYYTLEC.
OrthoDB	EOG4PC9RV.
PhylomeDB	Q6P1J9.
Gene expression databases
ArrayExpress	Q6P1J9.
Bgee	Q6P1J9.
CleanEx	HS_CDC73.
Genevestigator	Q6P1J9.
GermOnline	ENSG00000134371. Homo sapiens.
Family and domain databases
InterPro	IPR007852. RNA_pol_access_fac_Cdc73. [Graphical view]
KO	K15175.
PANTHER	PTHR12466. Cdc73. 1 hit.
Pfam	PF05179. CDC73. 1 hit. [Graphical view]
ProtoNet	Search...
Other
NextBio	68562.
SOURCE	Search...

Entry information

Entry name

CDC73_HUMAN

Accession

Primary (citable) accession number: Q6P1J9
Secondary accession number(s): A6NLZ8 , B2RBR2, Q6PK51, Q96A07, Q9H245, Q9H5L7

Entry history

Integrated into UniProtKB/Swiss-Prot:	December 20, 2005
Last sequence update:	July 5, 2004
Last modified:	January 25, 2012
This is version 90 of the entry and version 1 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation program

Chordata Protein Annotation Program

Disclaimer

Any 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.