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Aliases for CDC73 Gene

Aliases for CDC73 Gene

  • Cell Division Cycle 73 2 3
  • C1orf28 3 4 6
  • HRPT2 3 4 6
  • Paf1/RNA Polymerase II Complex Component 2 3
  • Cell Division Cycle Protein 73 Homolog 3 4
  • Hyperparathyroidism 2 Protein 3 4
  • Cell Division Cycle 73, Paf1/RNA Polymerase II Complex Component, Homolog (S. Cerevisiae) 2
  • Cell Division Cycle 73, Paf1/RNA Polymerase II Complex Component, Homolog 3
  • Hyperparathyroidism 2 (With Jaw Tumor) 2
  • Chromosome 1 Open Reading Frame 28 2
  • Hyperparathyroidism 1 2
  • Parafibromin 3
  • HPTJT 3
  • HRPT1 3
  • FIHP 3
  • HYX 3

External Ids for CDC73 Gene

Previous Symbols for CDC73 Gene

  • C1orf28
  • HRPT2
  • HRPT1

Summaries for CDC73 Gene

Entrez Gene Summary for CDC73 Gene

  • 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. [provided by RefSeq, Jul 2009]

GeneCards Summary for CDC73 Gene

CDC73 (Cell Division Cycle 73) is a Protein Coding gene. Diseases associated with CDC73 include parathyroid carcinoma and hyperparathyroidism-jaw tumor syndrome. Among its related pathways are Cell Cycle / Checkpoint Control and Translational Control. GO annotations related to this gene include RNA polymerase II core binding.

UniProtKB/Swiss-Prot for CDC73 Gene

  • 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.

Gene Wiki entry for CDC73 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for CDC73 Gene

Genomics for CDC73 Gene

Genomic Location for CDC73 Gene

Start:
193,121,958 bp from pter
End:
193,254,815 bp from pter
Size:
132,858 bases
Orientation:
Plus strand

Genomic View for CDC73 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for CDC73 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CDC73 Gene

Regulatory Elements for CDC73 Gene

Proteins for CDC73 Gene

  • Protein details for CDC73 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q6P1J9-CDC73_HUMAN
    Recommended name:
    Parafibromin
    Protein Accession:
    Q6P1J9
    Secondary Accessions:
    • A6NLZ8
    • B2RBR2
    • Q6PK51
    • Q96A07
    • Q9H245
    • Q9H5L7

    Protein attributes for CDC73 Gene

    Size:
    531 amino acids
    Molecular mass:
    60577 Da
    Quaternary structure:
    • 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.
    SequenceCaution:
    • Sequence=AAH07325.1; Type=Miscellaneous discrepancy; Note=Contaminating sequence. Potential poly-A sequence starting in position 300.; Evidence={ECO:0000305}; Sequence=BAB15608.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305};

neXtProt entry for CDC73 Gene

Proteomics data for CDC73 Gene at MOPED

Post-translational modifications for CDC73 Gene

  • Modification sites at PhosphoSitePlus
  • Ubiquitination at Lys209, Lys247, and Lys257

Other Protein References for CDC73 Gene

ENSEMBL proteins:
Reactome Protein details:
REFSEQ proteins:

No data available for DME Specific Peptides for CDC73 Gene

Domains for CDC73 Gene

Protein Domains for CDC73 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for CDC73 Gene

Graphical View of Domain Structure for InterPro Entry

Q6P1J9

UniProtKB/Swiss-Prot:

CDC73_HUMAN
Family:
  • Belongs to the CDC73 family.:
    • Q6P1J9
genes like me logo Genes that share domains with CDC73: view

No data available for Gene Families for CDC73 Gene

Function for CDC73 Gene

Molecular function for CDC73 Gene

UniProtKB/Swiss-Prot 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 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.

Gene Ontology (GO) - Molecular Function for CDC73 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000993 RNA polymerase II core binding IDA 15923622
GO:0005515 protein binding IPI 15923622
genes like me logo Genes that share ontologies with CDC73: view
genes like me logo Genes that share phenotypes with CDC73: view

Animal Models for CDC73 Gene

MGI Knock Outs for CDC73:

miRNA for CDC73 Gene

miRTarBase miRNAs that target CDC73

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targeting and HOMER Transcription for CDC73 Gene

Localization for CDC73 Gene

Subcellular locations from UniProtKB/Swiss-Prot for CDC73 Gene

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for CDC73 Gene COMPARTMENTS Subcellular localization image for CDC73 gene
Compartment Confidence
nucleus 5
cytosol 2
cytoskeleton 1

Gene Ontology (GO) - Cellular Components for CDC73 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IDA 15923622
GO:0005654 nucleoplasm TAS --
GO:0016593 Cdc73/Paf1 complex IDA 16307923
genes like me logo Genes that share ontologies with CDC73: view

Pathways for CDC73 Gene

genes like me logo Genes that share pathways with CDC73: view

Pathways by source for CDC73 Gene

3 Cell Signaling Technology pathways for CDC73 Gene

Gene Ontology (GO) - Biological Process for CDC73 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000122 negative regulation of transcription from RNA polymerase II promoter IMP 18987311
GO:0001711 endodermal cell fate commitment ISS --
GO:0006351 transcription, DNA-templated IEA --
GO:0006378 mRNA polyadenylation IMP 21329879
GO:0007049 cell cycle IEA --
genes like me logo Genes that share ontologies with CDC73: view

Transcripts for CDC73 Gene

mRNA/cDNA for CDC73 Gene

Unigene Clusters for CDC73 Gene

Cell division cycle 73:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for CDC73 Gene

ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9a · 9b ^ 10 ^ 11a · 11b ^ 12 ^ 13 ^ 14a · 14b ^ 15 ^ 16a · 16b · 16c ^ 17 ^ 18 ^ 19a · 19b
SP1: - -
SP2:
SP3: - - - -
SP4: -

Relevant External Links for CDC73 Gene

GeneLoc Exon Structure for
CDC73
ECgene alternative splicing isoforms for
CDC73

Expression for CDC73 Gene

mRNA expression in normal human tissues for CDC73 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for CDC73 Gene

SOURCE GeneReport for Unigene cluster for CDC73 Gene Hs.378996

mRNA Expression by UniProt/SwissProt for CDC73 Gene

Q6P1J9-CDC73_HUMAN
Tissue specificity: Found in adrenal and parathyroid glands, kidney and heart.
genes like me logo Genes that share expressions with CDC73: view

No data available for mRNA differential expression in normal tissues for CDC73 Gene

Orthologs for CDC73 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for CDC73 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia CDC73 35
  • 99.81 (n)
  • 100 (a)
CDC73 36
  • 100 (a)
OneToOne
cow
(Bos Taurus)
Mammalia CDC73 35
  • 92.97 (n)
  • 100 (a)
CDC73 36
  • 100 (a)
OneToOne
dog
(Canis familiaris)
Mammalia CDC73 35
  • 94.92 (n)
  • 100 (a)
HRPT2 36
  • 100 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Cdc73 35
  • 92.66 (n)
  • 100 (a)
Cdc73 16
Cdc73 36
  • 100 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia -- 36
  • 97 (a)
OneToMany
-- 36
  • 92 (a)
OneToMany
platypus
(Ornithorhynchus anatinus)
Mammalia -- 36
  • 94 (a)
OneToMany
-- 36
  • 99 (a)
OneToMany
rat
(Rattus norvegicus)
Mammalia Cdc73 35
  • 92.4 (n)
  • 99.81 (a)
chicken
(Gallus gallus)
Aves CDC73 35
  • 85.44 (n)
  • 97.74 (a)
CDC73 36
  • 98 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia -- 36
  • 93 (a)
OneToMany
-- 36
  • 93 (a)
OneToMany
African clawed frog
(Xenopus laevis)
Amphibia MGC53995 35
tropical clawed frog
(Silurana tropicalis)
Amphibia cdc73 35
  • 80.48 (n)
  • 93.97 (a)
Str.6253 35
zebrafish
(Danio rerio)
Actinopterygii cdc73 35
  • 76.17 (n)
  • 90.94 (a)
cdc73 36
  • 91 (a)
OneToOne
zgc63956 35
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP008885 35
  • 57.89 (n)
  • 63.94 (a)
fruit fly
(Drosophila melanogaster)
Insecta CG6220 36
  • 31 (a)
OneToMany
hyx 35
  • 59.79 (n)
  • 62.45 (a)
hyx 36
  • 58 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea F35F11.1 35
  • 45.63 (n)
  • 32.92 (a)
F35F11.1 36
  • 30 (a)
OneToOne
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes CDC73 36
  • 24 (a)
OneToOne
CDC73 38
thale cress
(Arabidopsis thaliana)
eudicotyledons PHP 35
  • 45.35 (n)
  • 36.99 (a)
rice
(Oryza sativa)
Liliopsida Os03g0664700 35
  • 46.56 (n)
  • 38.89 (a)
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.5207 35
sea squirt
(Ciona savignyi)
Ascidiacea CSA.1785 36
  • 59 (a)
OneToOne
Species with no ortholog for CDC73:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for CDC73 Gene

ENSEMBL:
Gene Tree for CDC73 (if available)
TreeFam:
Gene Tree for CDC73 (if available)

Paralogs for CDC73 Gene

Pseudogenes.org Pseudogenes for CDC73 Gene

genes like me logo Genes that share paralogs with CDC73: view

No data available for Paralogs for CDC73 Gene

Variants for CDC73 Gene

Sequence variations from dbSNP and Humsavar for CDC73 Gene

SNP ID Clin Chr 01 pos Sequence Context AA Info Type MAF
rs1046869 -- 193,252,826(+) cagtg(A/C)cttgc utr-variant-3-prime
rs1238595 -- 193,222,044(-) TTTTT(C/T)TTTGT intron-variant
rs1325196 -- 193,176,515(+) CAGCA(A/G)ACAAT intron-variant
rs1408830 -- 193,228,277(-) gaaac(C/T)aggaa intron-variant
rs1536097 -- 193,175,659(+) attta(A/G)attgt intron-variant

Structural Variations from Database of Genomic Variants (DGV) for CDC73 Gene

Variant ID Type Subtype PubMed ID
nsv466994 CNV Loss 19166990
esv2720818 CNV Deletion 23290073
nsv832148 CNV Gain 17160897
nsv872831 CNV Gain 21882294
esv275335 CNV Gain+Loss 21479260
esv275411 CNV Gain+Loss 21479260
nsv506970 CNV Insertion 20534489
esv275037 CNV Loss 21479260

Relevant External Links for CDC73 Gene

HapMap Linkage Disequilibrium report
CDC73
Human Gene Mutation Database (HGMD)
CDC73

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CDC73 Gene

Disorders for CDC73 Gene

(3) OMIM Diseases for CDC73 Gene (607393)

UniProtKB/Swiss-Prot

CDC73_HUMAN
  • Familial isolated hyperparathyroidism (FIHP) [MIM:145000]: Autosomal dominant disorder characterized by hypercalcemia, elevated parathyroid hormone (PTH) levels, and uniglandular or multiglandular parathyroid tumors. {ECO:0000269 PubMed:12434154, ECO:0000269 PubMed:12960210}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • 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. {ECO:0000269 PubMed:12434154, ECO:0000269 PubMed:15613436, ECO:0000269 PubMed:16487440}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • 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.

(22) Novoseek inferred disease relationships for CDC73 Gene

Disease -log(P) Hits PubMed IDs
hrpt2 99.4 227
parathyroid carcinoma 96.6 56
parathyroid cancer 92.7 12
parathyroid adenoma 85.4 11
hyperparathyroidism 84.3 25

Relevant External Links for CDC73

GeneTests
CDC73
GeneReviews
CDC73
Genetic Association Database (GAD)
CDC73
Human Genome Epidemiology (HuGE) Navigator
CDC73
genes like me logo Genes that share disorders with CDC73: view

Publications for CDC73 Gene

  1. The parafibromin tumor suppressor protein is part of a human Paf1 complex. (PMID: 15632063) Rozenblatt-Rosen O. … Meyerson M. (Mol. Cell. Biol. 2005) 2 3 4 23
  2. Identification of MEN1 and HRPT2 somatic mutations in paraffin- embedded (sporadic) parathyroid carcinomas. (PMID: 17555500) Haven C.J. … Morreau H. (Clin. Endocrinol. (Oxf.) 2007) 3 4 23 48
  3. Clinical, genetic, and histopathologic investigation of CDC73-related familial hyperparathyroidism. (PMID: 18755853) Masi G. … Palu G. (Endocr. Relat. Cancer 2008) 2 3 4 23
  4. Parafibromin/Hyrax activates Wnt/Wg target gene transcription by direct association with beta-catenin/Armadillo. (PMID: 16630820) Mosimann C. … Basler K. (Cell 2006) 3 4 23
  5. Sporadic human renal tumors display frequent allelic imbalances and novel mutations of the HRPT2 gene. (PMID: 17130827) Zhao J. … Moch H. (Oncogene 2007) 3 4 23

Products for CDC73 Gene

  • Addgene plasmids for CDC73

Sources for CDC73 Gene

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