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    PRRC1 proline rich coiled-coil 1 [ Homo sapiens (human) ]

    Gene ID: 133619, updated on 10-Dec-2024

    Summary

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    Official Symbol
    PRRC1provided by HGNC
    Official Full Name
    proline rich coiled-coil 1provided by HGNC
    Primary source
    HGNC:HGNC:28164
    See related
    Ensembl:ENSG00000164244 AllianceGenome:HGNC:28164
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Summary
    Predicted to enable protein kinase A regulatory subunit binding activity. Predicted to be located in Golgi apparatus. Predicted to be active in cytoplasm. [provided by Alliance of Genome Resources, Dec 2024]
    Expression
    Ubiquitous expression in thyroid (RPKM 18.8), endometrium (RPKM 14.7) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See PRRC1 in Genome Data Viewer
    Location:
    5q23.2
    Exon count:
    10
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 5 NC_000005.10 (127517640..127555085)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 5 NC_060929.1 (128037517..128074953)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 5 NC_000005.9 (126853332..126890777)

    Chromosome 5 - NC_000005.10Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105379199 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr5:126590405-126591604 Neighboring gene multiple EGF like domains 10 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr5:126643564-126644192 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:126755293-126755794 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23033 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16293 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23034 Neighboring gene heterogeneous nuclear ribonucleoprotein K pseudogene 1 Neighboring gene uncharacterized LOC124901058 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16294 Neighboring gene uncharacterized LOC105379164 Neighboring gene cortexin 3

    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
    • 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. Structural analysis and expression profile of a novel gene on chromosome 5q23 encoding a Golgi-associated protein with six splice variants, and involved within the 5q deletion of a Ph(-) CML patient. Kamakari S, et al. Leuk Res, 2005 Jan. PMID 15541471
    2. WW domains provide a platform for the assembly of multiprotein networks. Ingham RJ, et al. Mol Cell Biol, 2005 Aug. PMID 16055720, Free PMC Article
    3. Myotubularin-related proteins 3 and 4 interact with polo-like kinase 1 and centrosomal protein of 55 kDa to ensure proper abscission. St-Denis N, et al. Mol Cell Proteomics, 2015 Apr. PMID 25659891, Free PMC Article
    4. Flotillin-2 regulates epidermal growth factor receptor activation, degradation by Cbl-mediated ubiquitination, and cancer growth. Wisniewski DJ, et al. J Biol Chem, 2023 Jan. PMID 36470425, Free PMC Article
    5. Rearrangement of the Protein Phosphatase 1 Interactome During Heart Failure Progression. Chiang DY, et al. Circulation, 2018 Oct 9. PMID 29669786, Free PMC Article

    See all (36) citations in PubMed

    GeneRIFs: Gene References Into Functions

    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

    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

    Homology

    Clone Names

    • FLJ32875

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables identical protein binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables protein kinase A regulatory subunit binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Process Evidence Code Pubs
    involved_in epithelial structure maintenance IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Component Evidence Code Pubs
    located_in Golgi apparatus IEA
    Inferred from Electronic Annotation
    more info
    		  
    is_active_in cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  

    General protein information

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    Preferred Names
    protein PRRC1
    Names
    proline-rich and coiled-coil-containing protein 1

    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.

    mRNA and Protein(s)

    1. NM_001286808.2 → NP_001273737.1  protein PRRC1 isoform 1

      See identical proteins and their annotated locations for NP_001273737.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) encodes the longer isoform (1).
      Source sequence(s)
      AC010424, AJ441110, BX099255, DA808343
      Consensus CDS
      CCDS68943.1
      UniProtKB/Swiss-Prot
      Q96M27
      Related
      ENSP00000421965.2, ENST00000512635.2
      Conserved Domains (1) summary
      cl00866
      Location:263 → 376
      NTPase_I-T; Protein of unknown function DUF84

    2. NM_130809.5 → NP_570721.1  protein PRRC1 isoform 2

      See identical proteins and their annotated locations for NP_570721.1

      Status: VALIDATED

      Description
      Transcript Variant: (2) has multiple differences in the coding region, compared to variant 1. This variant encodes isoform 2, which is shorter than isoform 1.
      Source sequence(s)
      AC010424, BC017066, DA808343
      Consensus CDS
      CCDS4143.1
      UniProtKB/Swiss-Prot
      Q69YM8, Q7L2U7, Q86Y42, Q8IVJ4, Q8IVL4, Q8NEZ7, Q96AJ3, Q96M27
      Related
      ENSP00000296666.9, ENST00000296666.13
      Conserved Domains (1) summary
      cl00866
      Location:263 → 376
      NTPase_I-T; Protein of unknown function DUF84

    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_000005.10 Reference GRCh38.p14 Primary Assembly

      Range
      127517640..127555085
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060929.1 Alternate T2T-CHM13v2.0

      Range
      128037517..128074953
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q96M27.1 GenPept UniProtKB/Swiss-Prot:Q96M27

    Gene LinkOut

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

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