PRCC proline rich mitotic checkpoint control factor [Homo sapiens (human)] - Gene

Summary

Official Symbol: PRCCprovided by HGNC
Official Full Name: proline rich mitotic checkpoint control factorprovided by HGNC
Primary source: HGNC:HGNC:9343
See related: Ensembl:ENSG00000143294 MIM:179755; AllianceGenome:HGNC:9343
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: TPRC; RCCP1
Summary: This gene encodes a protein that may play a role in pre-mRNA splicing. Chromosomal translocations (X;1)(p11;q21) that result in fusion of this gene to TFE3 (GeneID 7030) have been associated with papillary renal cell carcinoma. A PRCC-TFE3 fusion protein is expressed in affected carcinomas and is likely associated with altered gene transactivation. This fusion protein has also been associated with disruption of the cell cycle.[provided by RefSeq, Aug 2010]
Expression: Ubiquitous expression in brain (RPKM 14.8), spleen (RPKM 14.1) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 1q23.1

Exon count:: 7

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	1	NC_000001.11 (156767535..156800815)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	1	NC_060925.1 (155904386..155937668)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	1	NC_000001.10 (156737327..156770607)

Chromosome 1 - NC_000001.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

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Expression

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See details

Project title: 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?

PRCC-TFE3 fusion-mediated PRKN/parkin-dependent mitophagy promotes cell survival and proliferation in PRCC-TFE3 translocation renal cell carcinoma.
Title: PRCC-TFE3 fusion-mediated PRKN/parkin-dependent mitophagy promotes cell survival and proliferation in PRCC-TFE3 translocation renal cell carcinoma.
results reveal that PRCC-TFE3 dual-fusion FISH probe is an efficient and concise technique for diagnosing PRCC-TFE3 RCC in paraffin-embedded tissue
Title: PRCC-TFE3 dual-fusion FISH assay: A new method for identifying PRCC-TFE3 renal cell carcinoma in paraffin-embedded tissue.
Our data suggest a scenario in which, during the course of renal cell carcinoma development, an initial PRCCTFE3-induced cell cycle delay must be numbed, thus permitting continued proliferation and progression towards full-blown malignancy.
Title: The renal cell carcinoma-associated oncogenic fusion protein PRCCTFE3 provokes p21 WAF1/CIP1-mediated cell cycle delay.

Submit: New GeneRIF Correction

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
Papillary renal cell carcinoma type 1 MedGen: C1336839 OMIM: 605074 GeneReviews: Not available	Compare labs

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

HIV-1 interactions

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Replication interactions

Interaction	Pubs
Knockdown of papillary renal cell carcinoma protein (PRCC) by siRNA inhibits HIV-1 replication in HeLa P4/R5 cells	PubMed

Go to the HIV-1, Human Interaction Database

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

AL033656 (e-PCR)
- UniSTS:93495

D1S3554 (e-PCR)
- UniSTS:81490

AL009821 (e-PCR)
- UniSTS:69737

SHGC-132150 (e-PCR)
- UniSTS:170677

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in cell cycle	IEA Inferred from Electronic Annotation more info
involved_in regulation of cell cycle	IDA Inferred from Direct Assay more info	PubMed

Component	Evidence Code	Pubs
located_in nuclear speck	IDA Inferred from Direct Assay more info
located_in nucleoplasm	TAS Traceable Author Statement more info
is_active_in nucleus	IBA Inferred from Biological aspect of Ancestor more info
located_in nucleus	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: proline-rich protein PRCC

Names: PRCC, proline rich mitotic checkpoint control factor; papillary renal cell carcinoma (translocation-associated); papillary renal cell carcinoma translocation-associated gene 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.

Genomic

NG_008138.1 RefSeqGene

Range

5054..38334

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_005973.5 → NP_005964.3 proline-rich protein PRCC

See identical proteins and their annotated locations for NP_005964.3

Status: REVIEWED

Source sequence(s)

BC004913, BC010450, BM423590

Consensus CDS

CCDS1157.1

UniProtKB/Swiss-Prot

A8K1F7, O00665, O00724, Q5SZ06, Q92733

UniProtKB/TrEMBL

A0A0S2Z456, Q96FT4

Related

ENSP00000271526.4, ENST00000271526.9

Conserved Domains (1) summary

pfam10253
Location:370 → 491

PRCC; Mitotic checkpoint regulator, MAD2B-interacting

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000001.11 Reference GRCh38.p14 Primary Assembly

Range

156767535..156800815

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GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

NC_060925.1 Alternate T2T-CHM13v2.0

Range

155904386..155937668

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GenBank, FASTA, Sequence Viewer (Graphics)

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

NM_199416.1: Suppressed sequence

Description

NM_199416.1: This RefSeq was permanently suppressed because currently there is insufficient support for the transcript and the protein.