Seroatlas · Human Serome Atlas

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 F

LocalizationUniProt · 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.

Disease | GeneticClinVar

158 pathogenic / likely-pathogenic of 1,954 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

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

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.

Canonical record: https://seroatlas.com/gene/CDC73. Study-independent annotations aggregated from UniProt, Human Protein Atlas, PubMed, IEDB, Pfam, InterPro, Gene Ontology, AlphaFold, gnomAD, DepMap, ClinVar, TCGA. Catalog release seroatlas-reviewed-human-uniprot-20260313.

Seroatlas is the reference for exploring autoantibody and antibody serology at the human-protein level: the autoreactome and human serome, multiplex serology (HuProt, HuScan, VirScan, PhIP-Seq).

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