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PRB1 proline rich protein BstNI subfamily 1 [ Homo sapiens (human) ]

Gene ID: 5542, updated on 2-Nov-2024

Summary

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Official Symbol
PRB1provided by HGNC
Official Full Name
proline rich protein BstNI subfamily 1provided by HGNC
Primary source
HGNC:HGNC:9337
See related
Ensembl:ENSG00000251655 MIM:180989; AllianceGenome:HGNC:9337
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
PM; PMF; PMS; PRB1L; PRB1M
Summary
Predicted to be located in extracellular region. [provided by Alliance of Genome Resources, Nov 2024]
Annotation information
Note: Genetic polymorphisms result in both protein coding and non-coding alleles of this gene.
Expression
Restricted expression toward salivary gland (RPKM 6228.4) See more
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Genomic context

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See PRB1 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 (11351821..11355591, complement)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 12 NC_060936.1 (11221005..11224775, complement)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (11504755..11508525, complement)

Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC107987435 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 proline rich protein BstNI subfamily 4 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr12:11512579-11513778 Neighboring gene uncharacterized LOC124902878 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 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. New Genetic marker in human parotid saliva (pm). Ikemoto S, et al. Science, 1977 Jul 22. PMID 877561
  2. Further fractionation of basic proline-rich peptides from human parotid saliva and complete amino acid sequence of basic proline-rich peptide P-H. Saitoh E, et al. J Biochem, 1983 Dec. PMID 6671974
  3. PRBI gene variants coding for length and null polymorphisms among human salivary Ps, PmF, PmS, and Pe proline-rich proteins (PRPs). Azen EA, et al. Am J Hum Genet, 1993 Jul. PMID 8317492, Free PMC Article
  4. Encoding of human basic and glycosylated proline-rich proteins by the PRB gene complex and proteolytic processing of their precursor proteins. Stubbs M, et al. Arch Oral Biol, 1998 Oct. PMID 9796777
  5. Enhanced glycosylation and sulfation of secretory proteoglycans is coupled to the expression of a basic secretory protein. Castle AM, et al. Mol Biol Cell, 1998 Mar. PMID 9487127, Free PMC Article

See all (28) 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)

Genotypes

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables molecular_function ND
No biological Data available
more info
  
Process Evidence Code Pubs
involved_in biological_process ND
No biological Data available
more info
  
Component Evidence Code Pubs
located_in extracellular region IEA
Inferred from Electronic Annotation
more info
  

General protein information

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Preferred Names
basic salivary proline-rich protein 1
Names
BstNI type basic salivary proline-rich protein 1
parotid middle band protein
salivary protein Pe

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_005039.4 → NP_005030.2  basic salivary proline-rich protein 1 isoform 1 preproprotein

    See identical proteins and their annotated locations for NP_005030.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longest transcript and encodes the longest protein (isoform 1).
    Source sequence(s)
    AC010176, K03204
    UniProtKB/TrEMBL
    G3V1M9

RNA

  1. NR_160307.2 RNA Sequence

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1, non-coding) contains a polymorphic nt that creates an early termination codon compared to variant 1, coding. The resulting transcript is considered to be non-protein coding since it is a candidate for nonsense-mediated mRNA decay (NMD).
    Source sequence(s)
    AC010176
    Related
    ENST00000240636.10

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
    11351821..11355591 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
    546784..550554 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060936.1 Alternate T2T-CHM13v2.0

    Range
    11221005..11224775 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_047446044.1 → XP_047302000.1  basic salivary proline-rich protein 1 isoform X2

  2. XM_047446043.1 → XP_047301999.1  basic salivary proline-rich protein 1 isoform X1

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

  1. NM_199353.2: Suppressed sequence

    Description
    NM_199353.2: This RefSeq was removed because currently there is insufficient support for the transcript and the protein.

  2. NM_199354.2: Suppressed sequence

    Description
    NM_199354.2: This RefSeq was removed because currently there is insufficient support for the transcript and the protein.
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
P04280.3 GenPept UniProtKB/Swiss-Prot:P04280

Gene LinkOut

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