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    CDC73 cell division cycle 73 [ Homo sapiens (human) ]

    Gene ID: 79577, updated on 3-Nov-2024

    Summary

    Official Symbol
    CDC73provided by HGNC
    Official Full Name
    cell division cycle 73provided by HGNC
    Primary source
    HGNC:HGNC:16783
    See related
    Ensembl:ENSG00000134371 MIM:607393; AllianceGenome:HGNC:16783
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    HYX; FIHP; HPTJT; HRPT1; HRPT2; C1orf28
    Summary
    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]
    Expression
    Ubiquitous expression in thyroid (RPKM 11.2), prostate (RPKM 9.6) and 25 other tissues See more
    Orthologs
    NEW
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    Genomic context

    See CDC73 in Genome Data Viewer
    Location:
    1q31.2
    Exon count:
    18
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (193122031..193254815)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (192469240..192602060)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (193091161..193223945)

    Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene Sharpr-MPRA regulatory region 7925 Neighboring gene uncharacterized LOC124904474 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:193082253-193083159 Neighboring gene Sharpr-MPRA regulatory region 4625 Neighboring gene H3K27ac hESC enhancer GRCh37_chr1:193090658-193091304 Neighboring gene H3K27ac hESC enhancer GRCh37_chr1:193091305-193091949 Neighboring gene glutaredoxin 2 Neighboring gene microRNA 1278 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2269 Neighboring gene beta-1,3-galactosyltransferase 2 Neighboring gene long intergenic non-protein coding RNA 1031 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr1:193324401-193325600 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2270 Neighboring gene uncharacterized LOC124904475 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2271 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2272 Neighboring gene ReSE screen-validated silencer GRCh37_chr1:193538144-193538280 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr1:193583455-193584654 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:193692068-193692676 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:193692677-193693283 Neighboring gene uncharacterized LOC124904676

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    Copy number response

    Description
    Copy number response
    Triplosensitivity

    No evidence available (Last evaluated 2022-04-13)

    ClinGen Genome Curation Page
    Haploinsufficency

    Sufficient evidence for dosage pathogenicity (Last evaluated 2022-04-13)

    ClinGen Genome Curation PagePubMed

    EBI GWAS Catalog

    Description
    Genome-wide association for abdominal subcutaneous and visceral adipose reveals a novel locus for visceral fat in women.
    EBI GWAS Catalog

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Clone Names

    • FLJ23316

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables RNA polymerase II complex binding IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables RNA polymerase II complex binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in Wnt signaling pathway IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in cellular response to lipopolysaccharide ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in endodermal cell fate commitment ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in mRNA 3'-end processing IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in negative regulation of G1/S transition of mitotic cell cycle IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in negative regulation of apoptotic process IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in negative regulation of cell population proliferation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in negative regulation of epithelial cell proliferation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in negative regulation of fibroblast proliferation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in negative regulation of myeloid cell differentiation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in negative regulation of transcription by RNA polymerase II IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in positive regulation of Wnt signaling pathway IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in positive regulation of cell cycle G1/S phase transition IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in positive regulation of mRNA 3'-end processing IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in positive regulation of transcription by RNA polymerase II IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in positive regulation of transcription elongation by RNA polymerase II IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in protein destabilization IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in regulation of cell growth IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in stem cell population maintenance ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in transcription elongation by RNA polymerase II IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Component Evidence Code Pubs
    part_of Cdc73/Paf1 complex IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    part_of Cdc73/Paf1 complex IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in chromosome, telomeric region HDA PubMed 
    located_in cytosol IDA
    Inferred from Direct Assay
    more info
     
    located_in nucleoplasm IDA
    Inferred from Direct Assay
    more info
     
    located_in nucleoplasm TAS
    Traceable Author Statement
    more info
     
    located_in nucleus IDA
    Inferred from Direct Assay
    more info
    PubMed 

    General protein information

    Preferred Names
    parafibromin
    Names
    Familial isolated hyperparathyroidism
    Paf1/RNA polymerase II complex component
    cell division cycle 73 Paf1/RNA polymerase II complex component-like protein
    cell division cycle 73, Paf1/RNA polymerase II complex component, homolog
    cell division cycle protein 73 homolog
    hyperparathyroidism 2 protein

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_012691.1 RefSeqGene

      Range
      5001..137858
      Download
      GenBank, FASTA, Sequence Viewer (Graphics), LRG_507

    mRNA and Protein(s)

    1. NM_024529.5NP_078805.3  parafibromin

      See identical proteins and their annotated locations for NP_078805.3

      Status: REVIEWED

      Source sequence(s)
      AI638120, AL139133, BC065037, DC298135
      Consensus CDS
      CCDS1382.1
      UniProtKB/Swiss-Prot
      A6NLZ8, B2RBR2, Q6P1J9, Q6PK51, Q96A07, Q9H245, Q9H5L7
      UniProtKB/TrEMBL
      A0A3B3IRP5
      Related
      ENSP00000356405.4, ENST00000367435.5
      Conserved Domains (2) summary
      pfam05179
      Location:357520
      CDC73_C; RNA pol II accessory factor, Cdc73 family, C-terminal
      pfam16050
      Location:1297
      CDC73_N; Paf1 complex subunit CDC73 N-terminal

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000001.11 Reference GRCh38.p14 Primary Assembly

      Range
      193122031..193254815
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_006711537.5XP_006711600.1  parafibromin isoform X1

      See identical proteins and their annotated locations for XP_006711600.1

      UniProtKB/TrEMBL
      A0A2R8YHB3
      Related
      ENSP00000496633.1, ENST00000643006.1
      Conserved Domains (1) summary
      pfam16050
      Location:1297
      CDC73_N; Paf1 complex subunit CDC73 N-terminal

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060925.1 Alternate T2T-CHM13v2.0

      Range
      192469240..192602060
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054338731.1XP_054194706.1  parafibromin isoform X1