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

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: mouse all
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Genomic context

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_000001.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Targeting UBR5 inhibits postsurgical breast cancer lung metastases by inducing CDC73 and p53 mediated apoptosis.
Title: Targeting UBR5 inhibits postsurgical breast cancer lung metastases by inducing CDC73 and p53 mediated apoptosis.
The clinicopathological and prognostic significances of CDC73 expression in breast cancer: A pathological and bioinformatics analysis.
Title: The clinicopathological and prognostic significances of CDC73 expression in breast cancer: A pathological and bioinformatics analysis.
Heterozygous CDC73 mutation causing hyperparathyroidism in children and adolescents: a report of 2 cases.
Title: Heterozygous CDC73 mutation causing hyperparathyroidism in children and adolescents: a report of 2 cases.
Para This, Fibromin That: The Role of CDC73 in Parathyroid Tumors and Familial Tumor Syndromes.
Title: Para This, Fibromin That: The Role of CDC73 in Parathyroid Tumors and Familial Tumor Syndromes.
A novel long-range deletion spanning CDC73 and upper-stream genes discovered in a kindred of familial primary hyperparathyroidism.
Title: A novel long-range deletion spanning CDC73 and upper-stream genes discovered in a kindred of familial primary hyperparathyroidism.
Cell-cell adhesion regulates Merlin/NF2 interaction with the PAF complex.
Title: Cell-cell adhesion regulates Merlin/NF2 interaction with the PAF complex.
The Oncosuppressors MEN1 and CDC73 Are Involved in lncRNA Deregulation in Human Parathyroid Tumors.
Title: The Oncosuppressors MEN1 and CDC73 Are Involved in lncRNA Deregulation in Human Parathyroid Tumors.
Tumor predisposition in an individual with chromosomal rearrangements of 1q31.2-q41 encompassing cell division cycle protein 73.
Title: Tumor predisposition in an individual with chromosomal rearrangements of 1q31.2-q41 encompassing cell division cycle protein 73.
Loss of parafibromin expression was significantly higher in the parathyroid carcinoma than in the atypical parathyroid adenoma, parathyroid adenoma and parathyroid hyperplasia.[meta-analysis]
Title: Diagnostic and prognostic implications of parafibromin immunohistochemistry in parathyroid carcinomaT.
Parafibromin immunohistochemistry is a useful marker in the clinical routine when applied on a pre-selected material of cases, with positive immunoreactivity as a confident rule out marker of parathyroid malignancy.
Title: Parafibromin immunostainings of parathyroid tumors in clinical routine: a near-decade experience from a tertiary center.

Submit: New GeneRIF Correction See all GeneRIFs (105)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Hyperparathyroidism 1 MedGen: C1840402 OMIM: 145000 GeneReviews: CDC73-Related Disorders	not available
Hyperparathyroidism 2 with jaw tumors MedGen: C1704981 OMIM: 145001 GeneReviews: Wilms Tumor Predisposition, CDC73-Related Disorders	not available
Parathyroid carcinoma MedGen: C0687150 OMIM: 608266 GeneReviews: CDC73-Related Disorders	not available

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 EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

SHGC-76074 (e-PCR)
- UniSTS:16406

G64641 (e-PCR)
- UniSTS:163872

SHGC-76070 (e-PCR)
- UniSTS:16436

CDC73 (e-PCR)
- UniSTS:506430

SGC32835 (e-PCR)
- UniSTS:839

A009C03 (e-PCR)
- UniSTS:5713

D1S2534 (e-PCR)
- UniSTS:62827

HRPT2__6588 (e-PCR)
- UniSTS:463990

AL009959 (e-PCR)
- UniSTS:77978

G20261 (e-PCR)
- UniSTS:25814

A005A18 (e-PCR)
- UniSTS:25815

D1S2239 (e-PCR)
- UniSTS:153560

SHGC-37629 (e-PCR)
- UniSTS:483

RH120134 (e-PCR)
- UniSTS:132339

G32402 (e-PCR)
- UniSTS:116989

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 more info	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

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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)

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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.