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    PRH1 proline rich protein HaeIII subfamily 1 [ Homo sapiens (human) ]

    Gene ID: 5554, updated on 10-Dec-2024

    Summary

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    Official Symbol
    PRH1provided by HGNC
    Official Full Name
    proline rich protein HaeIII subfamily 1provided by HGNC
    Primary source
    HGNC:HGNC:9366
    See related
    Ensembl:ENSG00000231887 MIM:168730; AllianceGenome:HGNC:9366
    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
    PA; Db-s; PRH2; PIF-S; Pr1/Pr2; PRP-1/PRP-2
    Summary
    This gene encodes a member of the heterogeneous family of proline-rich salivary glycoproteins. The encoded preproprotein undergoes proteolytic processing to generate one or more mature isoforms before secretion from the parotid and submandibular/sublingual glands. Multiple distinct alleles of this locus including the parotid isoelectric-focusing variant slow (PIF-s), the parotid acidic protein (Pa), and the double band slow (Db-s) isoforms have been characterized. The reference genome encodes the Db-s allele. Certain alleles of this gene are associated with susceptibility to dental caries. This gene is located in a cluster of closely related salivary proline-rich proteins on chromosome 12. Co-transcription of this gene with adjacent genes has been observed. Alternate splicing of this gene results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Oct 2015]
    Expression
    Restricted expression toward salivary gland (RPKM 9623.1) See more
    Orthologs
    all
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    Genomic context

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    See PRH1 in Genome Data Viewer
    Location:
    12p13.2
    Exon count:
    8
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 12 NC_000012.12 (10880965..11171611, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 12 NC_060936.1 (10754065..11040818, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (11033564..11324210, complement)

    Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene taste 2 receptor member 7 pseudogene Neighboring gene PRH1-PRR4 readthrough Neighboring gene proline rich 4 Neighboring gene Sharpr-MPRA regulatory region 13514 Neighboring gene taste 2 receptor member 12 pseudogene Neighboring gene taste 2 receptor member 13 Neighboring gene PRH1-TAS2R14 readthrough Neighboring gene MED14-independent group 3 enhancer GRCh37_chr12:11094509-11095708 Neighboring gene taste 2 receptor member 14 Neighboring gene proline rich protein HaeIII subfamily 2 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr12:11127502-11128380 Neighboring gene taste 2 receptor member 15 pseudogene Neighboring gene taste 2 receptor member 50 Neighboring gene taste 2 receptor member 20 Neighboring gene taste 2 receptor member 19 Neighboring gene taste 2 receptor member 31 Neighboring gene taste 2 receptor member 63 pseudogene Neighboring gene MPRA-validated peak1573 silencer Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr12:11223850-11224544 Neighboring gene taste 2 receptor member 46 Neighboring gene taste 2 receptor member 64 pseudogene Neighboring gene H3K27ac hESC enhancer GRCh37_chr12:11261275-11261775 Neighboring gene taste 2 receptor member 43 Neighboring gene taste 2 receptor member 30 Neighboring gene taste 2 receptor member 18 pseudogene Neighboring gene small integral membrane protein 10 like 1 Neighboring gene taste 2 receptor member 67 pseudogene Neighboring gene taste 2 receptor member 42

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: Tissue-specific circular RNA induction during human fetal development
    • Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
    • BioProject: PRJNA270632
    • Publication: PMID 26076956
    • Analysis date: Mon Apr 2 22:54:59 2018

    Bibliography

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    Related articles in PubMed

    1. Acidic proline-rich protein Db and caries in young children. Zakhary GM, et al. J Dent Res, 2007 Dec. PMID 18037651
    2. Partial purification and characterization of a polymorphic protein (Pa) in human parotid saliva. Friedman RD, et al. Am J Hum Genet, 1975 May. PMID 803013, Free PMC Article
    3. Susceptibility to dental caries and the salivary proline-rich proteins. Levine M. Int J Dent, 2011. PMID 22190937, Free PMC Article
    4. The complete primary structure of a proline-rich phosphoprotein from human saliva. Wong RS, et al. J Biol Chem, 1979 Jun 10. PMID 438215
    5. Different isoforms and post-translational modifications of human salivary acidic proline-rich proteins. Inzitari R, et al. Proteomics, 2005 Feb. PMID 15693058

    See all (29) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Human PRH1, PRH2 susceptibility and resistance and Streptococcus mutans virulence phenotypes specify different microbial profiles in caries.
      Title: Human PRH1, PRH2 susceptibility and resistance and Streptococcus mutans virulence phenotypes specify different microbial profiles in caries.
    2. We investigated whether PRH1 and PRH2 polymorphisms in saliva acidic proline-rich protein (PRP) receptors for indigenous bacteria match and predict individual differences in the development of caries..They instead developed 3.9-fold more caries than P1 children from plaque accumulation in general when treated with orthodontic multibrackets; and had basic PRP polymorphisms and low DMBT1-mediated S. mutans adhesion
      Title: Genetic- and Lifestyle-dependent Dental Caries Defined by the Acidic Proline-rich Protein Genes PRH1 and PRH2.
    3. 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.
    4. Compared with African-Americans, all Caucasians had significantly greater Streptococcus mutans colonization, but only Db-negative Caucasians had significantly more caries. Alleles linked to Db may explain racial differences in caries experience.
      Title: Acidic proline-rich protein Db and caries in young children.
    Submit: New GeneRIF Correction

    Phenotypes

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    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

    Readthrough PRH1-PRR4

    Readthrough gene: PRH1-PRR4, Included gene: PRR4

    Readthrough PRH1-TAS2R14

    Readthrough gene: PRH1-TAS2R14, Included gene: TAS2R14

    Homology

    Clone Names

    • FLJ41554, MGC74956

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in extracellular space TAS
    Traceable Author Statement
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    salivary acidic proline-rich phosphoprotein 1/2
    Names
    parotid acidic protein
    parotid double-band protein
    parotid isoelectric focusing variant protein
    parotid proline-rich protein 1/2
    protein C

    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_001291314.2 → NP_001278243.1  salivary acidic proline-rich phosphoprotein 1/2 isoform a preproprotein

      See identical proteins and their annotated locations for NP_001278243.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes the shorter isoform (a, also known as Db-s).
      Source sequence(s)
      AB593029, BC064553
      Consensus CDS
      CCDS76533.1
      UniProtKB/TrEMBL
      A0A087WV42, A0A087WYT0

    2. NM_001291315.2 → NP_001278244.1  salivary acidic proline-rich phosphoprotein 1/2 isoform b

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) differs in the 5' coding region and uses an alternate start codon, compared to variant 1. The encoded isoform (b) has a longer and distinct N-terminus, compared to isoform a.
      Source sequence(s)
      AB593029, BC064553
      UniProtKB/Swiss-Prot
      P02810
      UniProtKB/TrEMBL
      F1T0A8
      Conserved Domains (1) summary
      pfam15240
      Location:35 → 78
      Pro-rich; Proline-rich

    3. NM_001393989.1 → NP_001380918.1  salivary acidic proline-rich phosphoprotein 1/2 isoform a preproprotein

      Status: REVIEWED

      Source sequence(s)
      AC006518
      Consensus CDS
      CCDS76533.1
      UniProtKB/TrEMBL
      A0A087WV42, A0A087WYT0
      Related
      ENSP00000479168.1, ENST00000543626.5
      Conserved Domains (1) summary
      pfam15240
      Location:7 → 66
      Pro-rich; Proline-rich

    RNA

    1. NR_133575.2 RNA Sequence

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) lacks multiple exons and contains an alternate 3' terminal exon, compared to variant 1. This variant is represented as non-coding because the predicted protein does not meet RefSeq quality criteria.
      Source sequence(s)
      AB593028, AB593029, AC018630, AC134349, R39258

    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
      10880965..11171611 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
      79671..402265 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
      79671..366551 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060936.1 Alternate T2T-CHM13v2.0

      Range
      10754065..11040818 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_006250.3: Suppressed sequence

      Description
      NM_006250.3: This RefSeq was permanently suppressed because currently there is insufficient support for the transcript.
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    P02810.3 GenPept UniProtKB/Swiss-Prot:P02810

    Gene LinkOut

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

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