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    PRR4 proline rich 4 [ Homo sapiens (human) ]

    Gene ID: 11272, updated on 28-Oct-2024

    Summary

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    Official Symbol
    PRR4provided by HGNC
    Official Full Name
    proline rich 4provided by HGNC
    Primary source
    HGNC:HGNC:18020
    See related
    Ensembl:ENSG00000111215 MIM:605359; AllianceGenome:HGNC:18020
    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
    LPRP; PROL4
    Summary
    This gene encodes a member of the proline-rich protein family that lacks a conserved repetitive domain. This protein may play a role in protective functions in the eye. Alternative splicing result in multiple transcript variants. Read-through transcription also exists between this gene and the upstream PRH1 (proline-rich protein HaeIII subfamily 1) gene. [provided by RefSeq, Feb 2011]
    Expression
    Restricted expression toward salivary gland (RPKM 1815.0) See more
    Orthologs
    all
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    Genomic context

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    See PRR4 in Genome Data Viewer
    Location:
    12p13.2
    Exon count:
    4
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 12 NC_000012.12 (10845849..10849475, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 12 NC_060936.1 (10718942..10722568, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (10998448..11002074, complement)

    Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene taste 2 receptor member 7 pseudogene Neighboring gene taste 2 receptor member 10 Neighboring gene PRH1-PRR4 readthrough Neighboring gene Sharpr-MPRA regulatory region 13514 Neighboring gene taste 2 receptor member 12 pseudogene Neighboring gene proline rich protein HaeIII subfamily 1 Neighboring gene taste 2 receptor member 13

    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. Characterization of lacrimal proline-rich protein 4 (PRR4) in human tear proteome. Perumal N, et al. Proteomics, 2014 Jul. PMID 24782455
    2. A major human lacrimal gland mRNA encodes a new proline-rich protein family member. Dickinson DP, et al. Invest Ophthalmol Vis Sci, 1995 Sep. PMID 7544782
    3. Characterization of the in vivo forms of lacrimal-specific proline-rich proteins in human tear fluid. Fung KY, et al. Proteomics, 2004 Dec. PMID 15526346
    4. Characterization of human reflex tear proteome reveals high expression of lacrimal proline-rich protein 4 (PRR4). Perumal N, et al. Proteomics, 2015 Oct. PMID 26173177
    5. Lacrimal proline rich 4 (LPRR4) protein in the tear fluid is a potential biomarker of dry eye syndrome. Aluru SV, et al. PLoS One, 2012. PMID 23272196, Free PMC Article

    See all (25) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. High expression of lacrimal proline-rich protein 4 (PRR4) was found in reflex tears.
      Title: Characterization of human reflex tear proteome reveals high expression of lacrimal proline-rich protein 4 (PRR4).
    2. A new PRR4 isoform designated as PRR4-N3 in addition to PRR4 (gi154448886) and pHL E1F1 (gi1050983) was identified in human tear proteome.
      Title: Characterization of lacrimal proline-rich protein 4 (PRR4) in human tear proteome.
    3. Lacrimal proline rich 4 (LPRR4) protein in the tear fluid is a potential biomarker of dry eye syndrome.
      Title: Lacrimal proline rich 4 (LPRR4) protein in the tear fluid is a potential biomarker of dry eye syndrome.
    4. Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
      Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
    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

    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

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Readthrough PRH1-PRR4

    Readthrough gene: PRH1-PRR4, Included gene: PRH1

    Homology

    Clone Names

    • FLJ18757, DKFZp779L1763

    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 visual perception TAS
    Traceable Author Statement
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in extracellular space HDA PubMed 

    General protein information

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    Preferred Names
    proline-rich protein 4
    Names
    lacrimal proline-rich protein
    nasopharyngeal carcinoma-associated proline-rich protein 4
    proline rich 4 (lacrimal)
    proline-rich polypeptide 4

    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_001098538.3 → NP_001092008.2  proline-rich protein 4 isoform 1 precursor

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) uses an alternate splice site that causes a frameshift in the 3' coding region, compared to variant 2. The resulting isoform (1) has a distinct and shorter C-terminus, compared to isoform 2.
      Source sequence(s)
      AF530472, AK292934, BX537839
      Consensus CDS
      CCDS55804.1
      UniProtKB/Swiss-Prot
      Q16378
      Related
      ENSP00000438046.1, ENST00000544994.5

    2. NM_007244.3 → NP_009175.2  proline-rich protein 4 isoform 2 precursor

      See identical proteins and their annotated locations for NP_009175.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) represents the longer transcript and encodes the longer isoform (2).
      Source sequence(s)
      AF530472, DB229285
      Consensus CDS
      CCDS41756.1
      UniProtKB/Swiss-Prot
      A8KA69, F5H0D7, Q16378, Q8NFB3
      Related
      ENSP00000228811.4, ENST00000228811.8

    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_000012.12 Reference GRCh38.p14 Primary Assembly

      Range
      10845849..10849475 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Reference GRCh38.p14 ALT_REF_LOCI_1

    Genomic

    1. NW_003571050.1 Reference GRCh38.p14 ALT_REF_LOCI_1

      Range
      44555..48181 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Reference GRCh38.p14 ALT_REF_LOCI_2

    Genomic

    1. NT_187658.1 Reference GRCh38.p14 ALT_REF_LOCI_2

      Range
      44555..48181 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060936.1 Alternate T2T-CHM13v2.0

      Range
      10718942..10722568 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q16378.3 GenPept UniProtKB/Swiss-Prot:Q16378

    Gene LinkOut

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

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