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

    Gene ID: 5546, updated on 28-Oct-2024

    Summary

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    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

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    See PRCC in Genome Data Viewer
    Location:
    1q23.1
    Exon count:
    7
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (156767535..156800815)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (155904386..155937668)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (156737327..156770607)

    Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1434 Neighboring gene interferon stimulated exonuclease gene 20 like 2 Neighboring gene methyltransferase like 25B Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr1:156711011-156711988 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1877 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1878 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:156717051-156717748 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:156717749-156718446 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:156718447-156719143 Neighboring gene mitochondrial ribosomal protein L24 Neighboring gene H3K27ac hESC enhancer GRCh37_chr1:156721068-156721842 Neighboring gene heparin binding growth factor Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:156729657-156730190 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:156730191-156730723 Neighboring gene H3K27ac hESC enhancer GRCh37_chr1:156736100-156736726 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr1:156736727-156737352 Neighboring gene Sharpr-MPRA regulatory region 3718 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:156774267-156774768 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:156778787-156779288 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:156783176-156783722 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1438 Neighboring gene SH2 domain containing 2A Neighboring gene neurotrophic receptor tyrosine kinase 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1882 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1883 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1884 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:156808560-156809060 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:156811133-156811814 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:156811815-156812494 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:156814249-156814884 Neighboring gene Sharpr-MPRA regulatory region 5756 Neighboring gene insulin receptor related receptor

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • 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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    Related articles in PubMed

    1. Cloning of cDNAs with possible association with senescence and immortalization of human cells. Satoh Y, et al. Mutat Res, 1994 Feb. PMID 7507566
    2. Hereditary papillary renal cell carcinoma: clinical studies in 10 families. Zbar B, et al. J Urol, 1995 Mar. PMID 7853572
    3. Translocation (X;1) in papillary renal cell carcinoma. A new cytogenetic subtype. Meloni AM, et al. Cancer Genet Cytogenet, 1993 Jan. PMID 8431910
    4. PRCC-TFE3 fusion-mediated PRKN/parkin-dependent mitophagy promotes cell survival and proliferation in PRCC-TFE3 translocation renal cell carcinoma. Wang B, et al. Autophagy, 2021 Sep. PMID 33019842, Free PMC Article
    5. The renal cell carcinoma-associated oncogenic fusion protein PRCCTFE3 provokes p21 WAF1/CIP1-mediated cell cycle delay. Medendorp K, et al. Exp Cell Res, 2009 Aug 15. PMID 19422821

    See all (61) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. 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.
    2. 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.
    3. 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)

    Genotypes

    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

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • MGC4723, MGC17178

    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 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

    1. NG_008138.1 RefSeqGene

      Range
      5054..38334
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. 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_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
      156767535..156800815
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060925.1 Alternate T2T-CHM13v2.0

      Range
      155904386..155937668
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. 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.
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q92733.1 GenPept UniProtKB/Swiss-Prot:Q92733

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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