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    PRB4 proline rich protein BstNI subfamily 4 [ Homo sapiens (human) ]

    Gene ID: 5545, updated on 10-Dec-2024

    Summary

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    Official Symbol
    PRB4provided by HGNC
    Official Full Name
    proline rich protein BstNI subfamily 4provided by HGNC
    Primary source
    HGNC:HGNC:9340
    See related
    Ensembl:ENSG00000230657 MIM:180990; AllianceGenome:HGNC:9340
    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
    Po
    Summary
    This gene encodes a member of the heterogeneous family of basic, proline-rich, human salivary glycoproteins. The encoded preproprotein undergoes proteolytic processing to generate one or more mature peptides before secretion from the parotid glands. Multiple alleles of this gene exhibiting variations in the length of the tandem repeats have been identified. The reference genome encodes the "Small" allele. This gene is located in a cluster of closely related salivary proline-rich proteins on chromosome 12. Alternative splicing results in multiple transcript variants encoding different isoforms that may undergo similar proteolytic processing. [provided by RefSeq, Nov 2015]
    Expression
    Restricted expression toward salivary gland (RPKM 1203.4) See more
    Orthologs
    all
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    Genomic context

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    See PRB4 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 (11307077..11310436, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 12 NC_060936.1 (11176189..11179610, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (11460011..11463370, complement)

    Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC107987435 Neighboring gene taste 2 receptor member 7 pseudogene Neighboring gene proline rich protein BstNI subfamily 3 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:11443165-11443666 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:11443667-11444166 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:11450808-11451403 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr12:11512579-11513778 Neighboring gene proline rich protein BstNI subfamily 1 Neighboring gene proline rich protein BstNI subfamily 2

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Bibliography

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    Related articles in PubMed

    1. Top-down platform for deciphering the human salivary proteome. Castagnola M, et al. J Matern Fetal Neonatal Med, 2012 Oct. PMID 23025766
    2. Many protein products from a few loci: assignment of human salivary proline-rich proteins to specific loci. Lyons KM, et al. Genetics, 1988 Sep. PMID 3220251, Free PMC Article
    3. Diagnostic value of ultrastructural nerve examination in Charcot-Marie-Tooth disease: two CMT 1B cases with pseudo-recessive inheritance. Vallat JM, et al. Acta Neuropathol, 2007 Apr. PMID 17294201
    4. Characterization of the human salivary basic proline-rich protein complex by a proteomic approach. Messana I, et al. J Proteome Res, 2004 Jul-Aug. PMID 15359733
    5. Proline-rich proteins are present in serous cells of submucosal glands in the respiratory tract. Warner TF, et al. Am Rev Respir Dis, 1984 Jul. PMID 6377992

    See all (22) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Two heterozygous mutations of po gene were identified: S63F and N131Y in Charcot-Marie-Tooth disease.
      Title: Diagnostic value of ultrastructural nerve examination in Charcot-Marie-Tooth disease: two CMT 1B cases with pseudo-recessive inheritance.
    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)

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by GOA

    Component Evidence Code Pubs
    located_in extracellular region NAS
    Non-traceable Author Statement
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    basic salivary proline-rich protein 4
    Names
    BstNI type basic salivary proline-rich protein 4
    parotid o protein
    salivary proline-rich protein II-1
    salivary proline-rich protein Po

    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_001261399.3 → NP_001248328.1  basic salivary proline-rich protein 4 isoform 2 preproprotein

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) lacks an alternate in-frame segment, compared to variant 1. The resulting isoform (2) has the same N- and C-termini but is shorter, compared to isoform 1. This isoform (2) may undergo proteolytic processing similar to isoform 1.
      Source sequence(s)
      AC010176
      Consensus CDS
      CCDS58208.1
      UniProtKB/TrEMBL
      A2VCL9, E7EXA8
      Related
      ENSP00000481695.1, ENST00000621732.4
      Conserved Domains (1) summary
      pfam15240
      Location:89 → 176
      Pro-rich; Proline-rich

    2. NM_002723.6 → NP_002714.2  basic salivary proline-rich protein 4 isoform 1 preproprotein

      See identical proteins and their annotated locations for NP_002714.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
      Source sequence(s)
      AC010176
      Consensus CDS
      CCDS8641.1
      UniProtKB/TrEMBL
      E9PAL0
      Related
      ENSP00000279575.1, ENST00000279575.7
      Conserved Domains (1) summary
      pfam15240
      Location:68 → 170
      Pro-rich; Proline-rich

    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
      11307077..11310436 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
      502040..505399 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060936.1 Alternate T2T-CHM13v2.0

      Range
      11176189..11179610 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    P10163.4 GenPept UniProtKB/Swiss-Prot:P10163

    Gene LinkOut

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

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