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

Gene ID: 5545, updated on 7-Jun-2020

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
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

Genomic context

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See PRB4 in Genome Data Viewer
Location:
12p13.2
Exon count:
4
Annotation release Status Assembly Chr Location
109.20200522 current GRCh38.p13 (GCF_000001405.39) 12 NC_000012.12 (11307077..11310436, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (11460015..11463369, complement)

Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC107987183 Neighboring gene proline rich protein BstNI subfamily 3 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

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. Top-down platform for deciphering the human salivary proteome. Castagnola M, et al. J Matern Fetal Neonatal Med, 2012 Oct. PMID 23025766
  2. 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
  3. 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
  4. Alignment of amino acid and DNA sequences of human proline-rich proteins. Kauffman DL, et al. Crit Rev Oral Biol Med, 1993. PMID 8373986
  5. Complete amino acid sequence of a basic proline-rich peptide, P-D, from human parotid saliva. Saitoh E, et al. J Biochem, 1983 Feb. PMID 6841349

See all (21) 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)

Genotypes

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

Function Evidence Code Pubs
molecular_function ND
No biological Data available
more info
  
Process Evidence Code Pubs
biological_process ND
No biological Data available
more info
  
Component Evidence Code Pubs
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_001261399.2 → NP_001248328.1  basic salivary proline-rich protein 4 isoform 2 precursor

    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
    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, ENST00000279575.6
    Conserved Domains (1) summary
    pfam15240
    Location:68 → 170
    Pro-rich; Proline-rich

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000012.12 Reference GRCh38.p13 Primary Assembly

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

Reference GRCh38.p13 ALT_REF_LOCI_2

Genomic

  1. NT_187658.1 Reference GRCh38.p13 ALT_REF_LOCI_2

    Range
    502040..505399 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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