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

Gene ID: 133619, updated on 2-Nov-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, Nov 2024]
Expression
Ubiquitous expression in thyroid (RPKM 18.8), endometrium (RPKM 14.7) and 25 other tissues See more
Orthologs
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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 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

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