CDC73
Parafibromin
Also known as: C1orf28, CDC73_HUMAN, FIHP, HRPT1, HRPT2, parafibromin
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- Q6P1J9
- Gene
- CDC73
- Ensembl
- ENSG00000134371
- Chromosome
- 1
- Canonical length
- 531 aa
- Protein class
- Cancer-related genes, Disease related genes, Human disease related genes, Predicted intracellular proteins
- Subcellular location
- Nucleoplasm,Cytosol
OverviewNCBI 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]
Canonical amino-acid sequenceUniProt
531 residues, UniProt reviewed canonical sequence.
>Q6P1J9|CDC73
1 MADVLSVLRQ YNIQKKEIVV KGDEVIFGEF SWPKNVKTNY VVWGTGKEGQ PREYYTLDSI
61 LFLLNNVHLS HPVYVRRAAT ENIPVVRRPD RKDLLGYLNG EASTSASIDR SAPLEIGLQR
121 STQVKRAADE VLAEAKKPRI EDEECVRLDK ERLAARLEGH KEGIVQTEQI RSLSEAMSVE
181 KIAAIKAKIM AKKRSTIKTD LDDDITALKQ RSFVDAEVDV TRDIVSRERV WRTRTTILQS
241 TGKNFSKNIF AILQSVKARE EGRAPEQRPA PNAAPVDPTL RTKQPIPAAY NRYDQERFKG
301 KEETEGFKID TMGTYHGMTL KSVTEGASAR KTQTPAAQPV PRPVSQARPP PNQKKGSRTP
361 IIIIPAATTS LITMLNAKDL LQDLKFVPSD EKKKQGCQRE NETLIQRRKD QMQPGGTAIS
421 VTVPYRVVDQ PLKLMPQDWD RVVAVFVQGP AWQFKGWPWL LPDGSPVDIF AKIKAFHLKY
481 DEVRLDPNVQ KWDVTVLELS YHKRHLDRPV FLRFWETLDR YMVKHKSHLR FLocalizationUniProt · AlphaFold · HPA
Whether an antibody against CDC73 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.
- Antibody reachability
- Intracellular
- Secreted
- No
- Transmembrane segments
- 0
- Mean surface accessibility (rSASA)
- 0.46
- Highest tissue expression
- 14 nTPM
Expression across tissuesHPA
Tissue
- prostate: 14 nTPM
- blood vessel: 13 nTPM
- thyroid gland: 12 nTPM
- parathyroid gland: 12 nTPM
- cervix: 11 nTPM
- adipose tissue: 10 nTPM
Single-cell type
- neutrophil progenitors: 330 nCPM
- neutrophils: 313 nCPM
- cardiomyocytes: 301 nCPM
- prostatic glandular cells: 265 nCPM
- pituicytes/fscs: 219 nCPM
- myonuclei: 198 nCPM
Immune cell
- basophil: 2.2 nTPM
- naive CD4 T-cell: 1.4 nTPM
- NK-cell: 1.3 nTPM
- MAIT T-cell: 1.2 nTPM
- naive CD8 T-cell: 1.2 nTPM
- memory CD4 T-cell: 1.1 nTPM
Brain region
- hypothalamus: 17 nTPM
- white matter: 17 nTPM
- spinal cord: 17 nTPM
- medulla oblongata: 16 nTPM
- midbrain: 15 nTPM
- basal ganglia: 14 nTPM
DiseaseUniProt · ClinVar · IEDB · PubMed
Four sources answering four different questions about CDC73.
Disease | AllUniProt
Conditions CDC73 is implicated in, by any mechanism.
- Hyperparathyroidism 1 (HRPT1) MIM:145000
- Hyperparathyroidism 2 with jaw tumors (HRPT2) MIM:145001
- Parathyroid carcinoma (PRTC) MIM:608266
Disease | GeneticClinVar
158 pathogenic / likely-pathogenic of 1,954 ClinVar records.
Conditions with pathogenic or likely-pathogenic variants.
- Parathyroid carcinoma
- Hereditary cancer-predisposing syndrome
- Hyperparathyroidism 2 with jaw tumors
- Hyperparathyroidism 1
- CDC73-related disorder
Genetic constraint and essentialitygnomAD · DepMap
Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.
- gnomAD LOEUF (loss-of-function intolerance)
- 0.19
- gnomAD pLI
- 1
- gnomAD missense Z
- 3.73
- DepMap mean gene effect
- -1.38
- DepMap dependency class
- pan
Cancer expressionTCGA
Across TCGA tumor cohorts, this protein is over-expressed in roughly 11% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).
OntologyGO
Biological processes
- cellular response to lipopolysaccharide
- endodermal cell fate commitment
- mRNA 3'-end processing
- negative regulation of apoptotic process
- negative regulation of cell population proliferation
- negative regulation of epithelial cell proliferation
- negative regulation of fibroblast proliferation
- negative regulation of G1/S transition of mitotic cell cycle
- negative regulation of myeloid cell differentiation
- negative regulation of transcription by RNA polymerase II
- positive regulation of cell cycle G1/S phase transition
- positive regulation of mRNA 3'-end processing
- positive regulation of transcription by RNA polymerase II
- positive regulation of transcription elongation by RNA polymerase II
- positive regulation of Wnt signaling pathway
- protein destabilization
- regulation of cell growth
- stem cell population maintenance
- transcription elongation by RNA polymerase II
- Wnt signaling pathway
Molecular functions
Cellular components
Protein domainsUniProt · Pfam · InterPro
- Cdc73/Parafibromin
- Cell division control protein 73, C-terminal
- Paf1 complex subunit Cdc73, N-terminal domain
- Cell division control protein 73, C-terminal domain superfamily
- RNA pol II accessory factor, Cdc73 family, C-terminal
- Paf1 complex subunit CDC73 N-terminal
KeywordsUniProt
InteractionsUniProt · HPA
Protein binding partners of CDC73 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.
Antibody and autoantibody relevanceSeroatlas analysis
Seroatlas reads CDC73 as an antibody target. Whether an autoantibody or antibody against CDC73 could matter depends on whether native CDC73 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
CDC73 is annotated as predominantly intracellular. Intracellular proteins are common autoantibody markers, becoming visible to the immune system after cell injury or altered processing, but are usually markers of disease rather than direct drivers.
Annotation status
The present source text does not explicitly label CDC73 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
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