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

    Gene ID: 5542, updated on 10-Dec-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, Dec 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
    • 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)

    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

      UniProtKB/TrEMBL
      A0A4W8X8U3

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

      UniProtKB/TrEMBL
      Q86YA1

    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

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

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