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CDC73 Gene

protein-coding   GIFtS: 64
GCID: GC01P193090

Cell Division Cycle 73

(Previous names: chromosome 1 open reading frame 28, hyperparathyroidism...)
(Previous symbols: C1orf28, HRPT2, HRPT1)
  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Cell Division Cycle 731 2     Cell Division Cycle 73, Paf1/RNA Polymerase II Complex Component, Homolog
(S. Cerevisiae)1
C1orf281 2 3 5     Chromosome 1 Open Reading Frame 281
HRPT21 2 3 5     Hyperparathyroidism 2 (With Jaw Tumor)1
HRPT11 2     FIHP2
Hyperparathyroidism 11 2     HPTJT2
Paf1/RNA Polymerase II Complex Component1 2     HYX2
Cell Division Cycle Protein 73 Homolog2 3     Cell Division Cycle 73, Paf1/RNA Polymerase II Complex Component, Homolog2
Hyperparathyroidism 2 Protein2 3     parafibromin2

External Ids:    HGNC: 167831   Entrez Gene: 795772   Ensembl: ENSG000001343717   OMIM: 6073935   UniProtKB: Q6P1J93   

Export aliases for CDC73 gene to outside databases

Previous GC identifers: GC01P189823 GC01P191357 GC01P164327


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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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 hyperparathyroidism-jaw tumor syndrome, and cdc73-related parathyroid carcinoma. GO annotations related to this gene include RNA polymerase II core binding.

UniProtKB/Swiss-Prot: CDC73_HUMAN, Q6P1J9
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 Wiki entry for CDC73 Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence:
NC_000001.11  NT_004487.20  NC_018912.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the CDC73 gene promoter:
         NF-1   NF-1/L   AML1a   Tal-1beta   E47   GATA-1   Sox9   FOXO1a   ITF-2   FOXO1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 3): CDC73 promoter sequence
   Search Chromatin IP Primers for CDC73

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat CDC73


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 1q25   Ensembl cytogenetic band:  1q31.2   HGNC cytogenetic band: 1q25

CDC73 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
CDC73 gene location

GeneLoc information about chromosome 1         GeneLoc Exon Structure

GeneLoc location for GC01P193090:  view genomic region     (about GC identifiers)

Start:
193,091,088 bp from pter      End:
193,223,945 bp from pter
Size:
132,858 bases      Orientation:
plus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: CDC73_HUMAN, Q6P1J9 (See protein sequence)
Recommended Name: Parafibromin  
Size: 531 amino acids; 60577 Da
Subunit: 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
Sequence caution: Sequence=AAH07325.1; Type=Miscellaneous discrepancy; Note=Contaminating sequence. Potential
poly-A sequence starting in position 300; Sequence=BAB15608.1; Type=Erroneous initiation; Note=Translation
N-terminally extended;
Secondary accessions: A6NLZ8 B2RBR2 Q6PK51 Q96A07 Q9H245 Q9H5L7

Explore the universe of human proteins at neXtProt for CDC73: NX_Q6P1J9

Explore proteomics data for CDC73 at MOPED

Post-translational modifications: 

  • Ubiquitination2 at Lys209, Lys247, Lys257
  • Modification sites at PhosphoSitePlus

  • See CDC73 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_078805.3  
    ENSEMBL proteins: 
     ENSP00000356405  
    Reactome Protein details: Q6P1J9

    CDC73 Human Recombinant Protein Products:

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    Novus Biologicals CDC73 Protein
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    CDC73 Assay Products:

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    Cloud-Clone Corp. CLIAs for CDC73


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    1 InterPro protein domain:
     IPR007852 RNA_pol_access_fac_Cdc73

    Graphical View of Domain Structure for InterPro Entry Q6P1J9

    ProtoNet protein and cluster: Q6P1J9

    UniProtKB/Swiss-Prot: CDC73_HUMAN, Q6P1J9
    Similarity: Belongs to the CDC73 family


    CDC73 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: CDC73_HUMAN, Q6P1J9
    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): 2 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000993RNA polymerase II core binding IDA15923622
    GO:0005515protein binding IPI15923622
         
    CDC73 for ontologies           About GeneDecksing


    Phenotypes:
         6 GenomeRNAi human phenotypes for CDC73:
     Increased S DNA content  Increased cell size  Increased circadian period len  Increased gamma-H2AX phosphory 
     S arrest  Synthetic lethal with Ras 

         Selected MGI mutant phenotypes (inferred from 3 alleles(MGI details for Cdc73) (see all 19):
     adipose tissue  behavior/neurological  cardiovascular system  cellular  digestive/alimentary 
     embryogenesis  endocrine/exocrine gland  growth/size/body  hematopoietic system  homeostasis/metabolism 
     immune system  integument  liver/biliary system  mortality/aging  muscle 

    CDC73 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-out Cdc73tm1.1Btt for CDC73

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for CDC73
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for CDC73

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for CDC73
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for CDC73

    miRNA
    Products:
        
    miRTarBase miRNAs that target CDC73:
    hsa-mir-100-5p (MIRT048545), hsa-mir-23b-3p (MIRT046249), hsa-mir-155-5p (MIRT020706)

    Block miRNA regulation of human, mouse, rat CDC73 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate CDC73 (see all 87):
    hsa-miR-579 hsa-miR-100* hsa-miR-300 hsa-miR-371-5p hsa-miR-3161 hsa-miR-1244 hsa-miR-149 hsa-miR-489
    SwitchGear 3'UTR luciferase reporter plasmidCDC73 3' UTR sequence
    Inhib. RNA
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    OriGene RNAi products in human, mouse, rat for CDC73
    Predesigned siRNA for gene silencing in human, mouse, rat CDC73

    Gene Editing
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    Clone
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    OriGene ORF clones in mouse, rat for CDC73
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    GenScript: all cDNA clones in your preferred vector: CDC73 (NM_024529)
    Sino Biological Human cDNA Clone for CDC73
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    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat CDC73

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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CDC73


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    CDC73_HUMAN, Q6P1J9: Nucleus
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    nucleus5
    cytosol2
    cytoskeleton1

    Gene Ontology (GO): 2 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus IDA15923622
    GO:0016593Cdc73/Paf1 complex IDA16307923

    CDC73 for ontologies           About GeneDecksing


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    SuperPaths for CDC73 About    
    See pathways by source

    SuperPathContained pathways About
    1Cell Cycle / Checkpoint Control
    Cell Cycle / Checkpoint Control0.32
    2Wnt / Hedgehog / Notch
    Wnt / Hedgehog / Notch
    3Translational Control
    Translational Control

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    3 Cell Signaling Technology (CST) Pathways for CDC73
        Wnt / Hedgehog / Notch
    Translational Control
    Cell Cycle / Checkpoint Control


    1 Reactome Pathway for CDC73
        formation of the beta-catenin:TCF transactivating complex



    CDC73 for pathways           About GeneDecksing

        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for CDC73
    Interactions:

        GeneGlobe Interaction Network for CDC73

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    Selected Interacting proteins for CDC73 (Q6P1J91, 2, 3 ENSP000003564054) via UniProtKB, MINT, STRING, and/or I2D (see all 1074)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    DDAH2O958652, 3MINT-8251087 I2D: score=2 
    ENSG00000206395O958652, 3MINT-8251087 I2D: score=2 
    ENSG00000225635O958652, 3MINT-8251087 I2D: score=2 
    ENSG00000226634O958652, 3MINT-8251087 I2D: score=2 
    ENSG00000227317O958652, 3MINT-8251087 I2D: score=2 
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 20):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000122negative regulation of transcription from RNA polymerase II promoter IMP18987311
    GO:0001711endodermal cell fate commitment ISS--
    GO:0006351transcription, DNA-templated IEA--
    GO:0006378mRNA polyadenylation IMP--
    GO:0007049cell cycle IEA--

    CDC73 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for CDC73



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for CDC73 gene: 
    NM_024529.4  

    Unigene Cluster for CDC73:

    Cell division cycle 73
    Hs.378996  [show with all ESTs]
    Unigene Representative Sequence: NM_024529
    3 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000367435(uc001gtb.3) ENST00000482484 ENST00000477868
    miRNA
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    Block miRNA regulation of human, mouse, rat CDC73 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate CDC73 (see all 87):
    hsa-miR-579 hsa-miR-100* hsa-miR-300 hsa-miR-371-5p hsa-miR-3161 hsa-miR-1244 hsa-miR-149 hsa-miR-489
    SwitchGear 3'UTR luciferase reporter plasmidCDC73 3' UTR sequence
    Inhib. RNA
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      QuantiTect SYBR Green Assays in human, mouse, rat CDC73
      QuantiFast Probe-based Assays in human, mouse, rat CDC73

    Additional mRNA sequence: 

    AF312865.1 AK026969.1 AK226038.1 AK300929.1 AK314772.1 BC007325.2 BC013075.1 BC014351.1 
    BC065037.1 

    9 DOTS entries:

    DT.114228  DT.443323  DT.100816499  DT.100816501  DT.91638650  DT.100026312  DT.121363485  DT.121363541 
    DT.411694 

    Selected AceView cDNA sequences (see all 141):

    AI701334 R77682 BE079299 AA331747 BM463202 BU178011 AW029389 BX106205 
    AI079467 AI183810 AI422655 AI081752 AF312865 NM_024529 BM698263 BC065037 
    BQ417005 BU902623 AL691599 BC007325 AI302169 AI263326 AA450190 AW236326 

    GeneLoc Exon Structure

    4 Alternative Splicing Database (ASD) splice patterns (SP) for CDC73    About this scheme

    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:                                                                                                                                -                     


    ECgene alternative splicing isoforms for CDC73

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

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    CDC73 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GTAAAGCATA
    CDC73 Expression
    About this image


    CDC73 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 5) fully expand
     
     Brain (Nervous System)    fully expand to see all 2 entries
             Cerebral Cortex
     
     Trophoblast (Extraembryonic Tissues)
             Trophoblast Cells Trophoblast
     
     Ovary (Reproductive System)
             Oviduct
     
     Bone (Muscoskeletal System)
             Bone Marrow
     
     Thyroid (Endocrine System)
    CDC73 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    CDC73 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.378996

    UniProtKB/Swiss-Prot: CDC73_HUMAN, Q6P1J9
    Tissue specificity: Found in adrenal and parathyroid glands, kidney and heart

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    QuantiFast Probe-based Assays in human, mouse, rat CDC73
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CDC73

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of eukaryotes.

    Orthologs for CDC73 gene from Selected species (see all 20)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Cdc731 , 5 cell division cycle 73, Paf1/RNA polymerase II complex more1, 5 92.66(n)1
    100(a)1
      1 (62.52 cM)5
    2144981  NM_145991.11  NP_666103.11 
     1435987975 
    chicken
    (Gallus gallus)
    Aves CDC731 cell division cycle 73, Paf1/RNA polymerase II complex more 85.44(n)
    97.74(a)
      424356  NM_001031265.1  NP_001026436.1 
    lizard
    (Anolis carolinensis)
    Reptilia --
    --
    Uncharacterized protein
    93(a)
    93(a)
    many → 1
    many → 1
    GL343267.1(1174801-1214764)
    GL343267.1(1076819-1156992)
    African clawed frog
    (Xenopus laevis)
    Amphibia MGC539952 hypothetical protein MGC53995 80.83(n)    BC043965.1 
    zebrafish
    (Danio rerio)
    Actinopterygii zgc639562 hypothetical protein MGC63956 77.55(n)   393319  BC053163.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta hyx1 hyrax 59.79(n)
    62.45(a)
      41086  NM_141606.4  NP_649863.1 
    worm
    (Caenorhabditis elegans)
    Secernentea F35F11.11 F35F11.1 45.63(n)
    32.92(a)
      177160  NM_068064.5  NP_500465.3 
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes CDC73(YLR418C)4 Component of the Paf1p complex; binds to and modulates more   --   12(958095-956914) 851136  NP_013522.1 
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons PHP1 PHP 45.35(n)
    36.99(a)
      821831  NM_113158.2  NP_188898.1 
    rice
    (Oryza sativa)
    Liliopsida Os03g06647001 Os03g0664700 46.56(n)
    38.89(a)
      4333654  NM_001057373.1  NP_001050838.1 


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for CDC73 gene

    CDC73 for paralogs           About GeneDecksing


    1 Pseudogenes.org Pseudogene for CDC73
    PGOHUM00000243685


    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for CDC73 (see all 2590)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 1 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0240824
    Familial isolated hyperparathyroidism (FIHP)4--see VAR_0240822 L P mis40--------
    VAR_0649364
    Hyperparathyroidism-jaw tumor syndrome (HPT-JT)4--see VAR_0649362 D N mis40--------
    rs803566471,2
    Cnon-pathogenic1199720067(+) GAGGTC/TGTGCA 1 -- int10--------
    rs115834141,2
    C,F,Hnon-pathogenic1199757677(+) CTTCTC/GTCCAC 1 -- int18Minor allele frequency- G:0.08NS EA NA EU 1761
    rs289420981,2
    Cpathogenic1199630265(+) AAGATG/AGCGGA 2 /I /M mis12Minor allele frequency- A:0.00NA 4
    rs108011851,2
    C,H--164366639(+) TATATA/TATATA 1 -- int10--------
    rs1829250761,2
    --164366680(+) ATATAA/TTATAT 1 -- int10--------
    rs1872364991,2
    --164366765(+) TATATC/TATATT 1 -- int10--------
    rs715224601,2
    C,F--164366791(+) TATATT/CATATT 1 -- int11Minor allele frequency- C:0.00NA 2
    rs1837858601,2
    --164366843(+) TATATC/TATATT 1 -- int10--------

    HapMap Linkage Disequilibrium report for CDC73 (193091088 - 193223945 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 8 variations for CDC73:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2720818CNV Deletion23290073
    nsv506970CNV Insertion20534489
    esv275037CNV Loss21479260
    nsv466994CNV Loss19166990
    nsv832148CNV Gain17160897
    nsv872831CNV Gain21882294
    esv275335CNV Gain+Loss21479260
    esv275411CNV Gain+Loss21479260

    Human Gene Mutation Database (HGMD): CDC73
    Selected Site Specific Mutation Identification with PCR Assays for CDC73 (see all 6):
    Cosmic IdAA Change
    86065p.Y54*
    26047p.Y55fs*1
    26046p.W43*
    86066p.L5P
    26065p.L8fs*13
    SeqTarget long-range PCR primers for resequencing CDC73
    DNA2.0 Custom Variant and Variant Library Synthesis for CDC73

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 607393   
    OMIM disorders: 145001  145000  608266  
    UniProtKB/Swiss-Prot: CDC73_HUMAN, Q6P1J9
  • Familial isolated hyperparathyroidism (FIHP) [MIM:145000]: Autosomal dominant disorder characterized by
    hypercalcemia, elevated parathyroid hormone (PTH) levels, and uniglandular or multiglandular parathyroid tumors.
    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. 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. Note=The gene
    represented in this entry is involved in disease pathogenesis

  • Selected diseases for CDC73 (see all 41):    
    About MalaCards
    hyperparathyroidism-jaw tumor syndrome    cdc73-related parathyroid carcinoma    cdc73-related disorders    hereditary wilms' tumor
    hyperparathyroidism    cdc73-related familial isolated hyperparathyroidism    parathyroid adenoma with cystic changes    parathyroid adenoma
    familial isolated hyperparathyroidism    parathyroid carcinoma    ossifying fibroma    primary hyperparathyroidism
    parathyroid gland disease    wermer syndrome    multiple endocrine neoplasia    gonorrhea
    wilms tumor    was-related disorders    fibrous dysplasia    hypercalcemia

    9 diseases from the University of Copenhagen DISEASES database for CDC73:
    Parathyroid carcinoma     Hyperparathyroidism     Wermer syndrome     Hereditary Wilms' tumor
    Ossifying fibroma     Parathyroid adenoma     Adenoma     Hypercalcemia
    Gonorrhea

    CDC73 for disorders           About GeneDecksing

    Selected Novoseek inferred disease relationships for CDC73 gene (see all 22)    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    hrpt2 99.4 352 14585940 (10), 16995822 (9), 20026646 (8), 17468190 (8) (see all 76)
    parathyroid carcinoma 96.6 76 14585940 (7), 16931959 (4), 19017757 (4), 15475453 (4) (see all 30)
    parathyroid cancer 92.7 13 15531515 (3), 15580289 (2), 17555500 (1), 16357559 (1) (see all 9)
    parathyroid adenoma 85.4 13 17490066 (3), 16728578 (3), 16931959 (1), 17118068 (1) (see all 7)
    hyperparathyroidism 84.3 28 18063086 (3), 18436011 (3), 16487440 (2), 15580289 (2) (see all 19)
    hyperparathyroidism primary 84 18 19092296 (2), 15531515 (2), 16061557 (2), 19474519 (1) (see all 11)
    multiple endocrine neoplasia type 1 72.9 6 12960210 (1), 19474519 (1), 19705144 (1), 10396361 (1) (see all 5)
    adenoma 67.6 38 17468190 (3), 16931959 (2), 18063086 (2), 15475453 (2) (see all 16)
    parathyroid diseases 66.2 2 18436011 (1), 16995822 (1)
    fibroma ossifying 66 1 16458039 (1)

    GeneTests: CDC73
    GeneReviews: CDC73
    Genetic Association Database (GAD): CDC73
    Human Genome Epidemiology (HuGE) Navigator: CDC73 (4 documents)

    Export disorders for CDC73 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for CDC73 gene, integrated from 10 sources (see all 172):
    (articles sorted by number of sources associating them with CDC73)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Identification of MEN1 and HRPT2 somatic mutations in paraffin- embedded (sporadic) parathyroid carcinomas. (PubMed id 17555500)1, 2, 4, 9 Haven C.J.... Morreau H. (Clin. Endocrinol. (Oxf.) 2007)
    2. The parafibromin tumor suppressor protein is part of a human Paf1 complex. (PubMed id 15632063)1, 2, 3, 9 Rozenblatt-Rosen O.... Meyerson M. (Mol. Cell. Biol. 2005)
    3. Clinical, genetic, and histopathologic investigation of CDC73-related familial hyperparathyroidism. (PubMed id 18755853)1, 2, 3, 9 Masi G.... Palu G. (Endocr. Relat. Cancer 2008)
    4. Cloning and characterization of 13 novel transcripts and the human RGS8 gene from the 1q25 region encompassing the hereditary prostate cancer (HPC1) locus. (PubMed id 11318611)1, 2, 3 Sood R....Carpten J.D. (Genomics 2001)
    5. HRPT2 mutations are associated with malignancy in sporadic parathyroid tumours. (PubMed id 12960210)1, 2, 9 Howell V.M.... Teh B.T. (J. Med. Genet. 2003)
    6. Loss of parafibromin expression in a subset of parathyroid adenomas. (PubMed id 16728578)1, 2, 9 Juhlin C.... Villablanca A. (Endocr. Relat. Cancer 2006)
    7. Somatic and germ-line mutations of the HRPT2 gene in sporadic parathyroid carcinoma. (PubMed id 14585940)1, 2, 9 Shattuck T.M.... Arnold A. (N. Engl. J. Med. 2003)
    8. Sporadic human renal tumors display frequent allelic imbalances and novel mutations of the HRPT2 gene. (PubMed id 17130827)1, 2, 9 Zhao J.... Moch H. (Oncogene 2007)
    9. Parafibromin inhibits cancer cell growth and causes G1 phase arrest. (PubMed id 16989776)1, 2, 9 Zhang C.... Teh B.T. (Biochem. Biophys. Res. Commun. 2006)
    10. Parafibromin, product of the hyperparathyroidism-jaw tumor syndrome gene HRPT2, regulates cyclin D1/PRAD1 expression. (PubMed id 15580289)1, 2, 9 Woodard G.E....Simonds W.F. (Oncogene 2005)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 79577 HGNC: 16783 AceView: HRPT2 Ensembl:ENSG00000134371 euGenes: HUgn79577
    ECgene: CDC73 H-InvDB: CDC73

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for CDC73 Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for CDC73 Genetics and Cytogenetics in Oncology and Haematology
    GeneReviewshttp://www.ncbi.nlm.nih.gov/books/NBK1116/?term=CDC73[genesymbol]

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for CDC73 gene:
    Search GeneIP for patents involving CDC73

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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