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Aliases for PRB1 Gene

Aliases for PRB1 Gene

  • Proline Rich Protein BstNI Subfamily 1 2 3 5
  • BstNI Type Basic Salivary Proline-Rich Protein 1 3
  • Basic Salivary Proline-Rich Protein 1 3
  • Salivary Proline-Rich Protein 4
  • Parotid Middle Band Protein 3
  • Salivary Protein Pe 3
  • PRB1L 3
  • PRB1M 3
  • PMF 3
  • PMS 3
  • PM 3

External Ids for PRB1 Gene

Previous GeneCards Identifiers for PRB1 Gene

  • GC12P011051
  • GC12M011648
  • GC12M011405
  • GC12M011398
  • GC12M011399
  • GC12M011401
  • GC12M011504
  • GC12M011269
  • GC12M011352
  • GC12M011483
  • GC12M011562
  • GC12M011752
  • GC12M011939

Summaries for PRB1 Gene

Entrez Gene Summary for PRB1 Gene

  • 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 "Medium" 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]

GeneCards Summary for PRB1 Gene

PRB1 (Proline Rich Protein BstNI Subfamily 1) is a Protein Coding gene. Diseases associated with PRB1 include Transient Global Amnesia. Among its related pathways are Salivary secretion and Spinal Cord Injury. An important paralog of this gene is PRB2.

Gene Wiki entry for PRB1 Gene

Additional gene information for PRB1 Gene

No data available for CIViC summary , UniProtKB/Swiss-Prot , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for PRB1 Gene

Genomics for PRB1 Gene

GeneHancer (GH) Regulatory Elements for PRB1 Gene

Promoters and enhancers for PRB1 Gene
GeneHancer (GH) Identifier GH Type GH
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH12J011355 Promoter 0.5 EPDnew 650.3 +40.0 39955 0.1 PRB1 PRB4 GC12M012309
GH12J011307 Enhancer 0.2 FANTOM5 67.6 +87.8 87829 0.1 PRB1 PRB4 PRB3 PRB2 PRH1 PRH2
GH12J011310 Promoter 0.5 EPDnew 0.2 +85.1 85113 0.1 PRB4 PRB1
GH12J011429 Enhancer 0.2 FANTOM5 0.3 -34.1 -34137 0.3 TAS2R50 TAS2R42 TAS2R43 GC12M012309 PRB1 ENSG00000255790 PRB2
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around PRB1 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the PRB1 gene promoter:
  • STAT3
  • ATF-2
  • c-Jun
  • STAT1

Genomic Locations for PRB1 Gene

Genomic Locations for PRB1 Gene
43,744 bases
Minus strand
43,744 bases
Minus strand

Genomic View for PRB1 Gene

Genes around PRB1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
PRB1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for PRB1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for PRB1 Gene

Proteins for PRB1 Gene

  • Protein details for PRB1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Basic salivary proline-rich protein 1
    Protein Accession:
    Secondary Accessions:
    • G5E9X6
    • Q08805
    • Q15186
    • Q15187
    • Q15214
    • Q15215
    • Q16038

    Protein attributes for PRB1 Gene

    392 amino acids
    Molecular mass:
    38562 Da
    Quaternary structure:
    No Data Available

neXtProt entry for PRB1 Gene

Post-translational modifications for PRB1 Gene

  • O-glycosylated. O-glycosylation on Ser-87 is prevalent in head and neck cancer patients. O-Glycosylation on Ser-330 has a 5 times prevalence in head and neck cancers.
  • Proteolytically cleaved at the tripeptide Xaa-Pro-Gln, where Xaa in the P(3) position is mostly lysine. The endoprotease may be of microbial origin.
  • Pyroglutamate formation occurs on terminal Gln residues of cleaved peptides. Besides on the N-terminal of mature PBR1, pyroglutamate formation found on at least Gln-58.
  • Glycosylation at Ser330, Ser150, posLast=8787, and posLast=4040
  • Modification sites at PhosphoSitePlus

Other Protein References for PRB1 Gene

No data available for DME Specific Peptides for PRB1 Gene

Domains & Families for PRB1 Gene

Gene Families for PRB1 Gene

Human Protein Atlas (HPA):
  • Predicted secreted proteins

Protein Domains for PRB1 Gene


Suggested Antigen Peptide Sequences for PRB1 Gene

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with PRB1: view

No data available for UniProtKB/Swiss-Prot for PRB1 Gene

Function for PRB1 Gene

Molecular function for PRB1 Gene

GENATLAS Biochemistry:
salivary proline-rich protein,basic,glycosylated,BstNI subfamily 1,including among others,the polymorphic variant concavalin-A binding protein in exon 3 of PRB1M (CON 2+)

Gene Ontology (GO) - Molecular Function for PRB1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003674 molecular_function ND --
genes like me logo Genes that share ontologies with PRB1: view
genes like me logo Genes that share phenotypes with PRB1: view

Animal Model Products

Clone Products

No data available for Enzyme Numbers (IUBMB) , Phenotypes From GWAS Catalog , Human Phenotype Ontology , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for PRB1 Gene

Localization for PRB1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for PRB1 Gene


Subcellular locations from

Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for PRB1 gene
Compartment Confidence
extracellular 3
plasma membrane 1

Gene Ontology (GO) - Cellular Components for PRB1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region IEA --
genes like me logo Genes that share ontologies with PRB1: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for PRB1 Gene

Pathways & Interactions for PRB1 Gene

genes like me logo Genes that share pathways with PRB1: view

Pathways by source for PRB1 Gene

1 BioSystems pathway for PRB1 Gene
1 KEGG pathway for PRB1 Gene

Interacting Proteins for PRB1 Gene

Gene Ontology (GO) - Biological Process for PRB1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0008150 biological_process ND --
genes like me logo Genes that share ontologies with PRB1: view

No data available for SIGNOR curated interactions for PRB1 Gene

Drugs & Compounds for PRB1 Gene

(1) Additional Compounds for PRB1 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with PRB1: view

Transcripts for PRB1 Gene

mRNA/cDNA for PRB1 Gene

(3) REFSEQ mRNAs :
(5) Additional mRNA sequences :
(22) Selected AceView cDNA sequences:
(4) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for PRB1 Gene

Proline-rich protein BstNI subfamily 1:
Representative Sequences:

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for PRB1 Gene

No ASD Table

Relevant External Links for PRB1 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for PRB1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for PRB1 Gene

mRNA differential expression in normal tissues according to GTEx for PRB1 Gene

This gene is overexpressed in Skin - Sun Exposed (Lower leg) (x10.5), Brain - Caudate (basal ganglia) (x9.2), Brain - Putamen (basal ganglia) (x7.6), Brain - Nucleus accumbens (basal ganglia) (x6.3), and Skin - Not Sun Exposed (Suprapubic) (x5.6).

Protein differential expression in normal tissues from HIPED for PRB1 Gene

This gene is overexpressed in Saliva (69.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for PRB1 Gene

Protein tissue co-expression partners for PRB1 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of PRB1 Gene:


SOURCE GeneReport for Unigene cluster for PRB1 Gene:


Evidence on tissue expression from TISSUES for PRB1 Gene

  • Saliva(4.3)
genes like me logo Genes that share expression patterns with PRB1: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for PRB1 Gene

Orthologs for PRB1 Gene

This gene was present in the common ancestor of human and chimp.

Orthologs for PRB1 Gene

Organism Taxonomy Gene Similarity Type Details
(Pan troglodytes)
Mammalia -- 34
  • 94 (a)
-- 34
  • 52 (a)
Species where no ortholog for PRB1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • cow (Bos Taurus)
  • dog (Canis familiaris)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • lizard (Anolis carolinensis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • mouse (Mus musculus)
  • oppossum (Monodelphis domestica)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • rainbow trout (Oncorhynchus mykiss)
  • rat (Rattus norvegicus)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)
  • zebrafish (Danio rerio)

Evolution for PRB1 Gene

Gene Tree for PRB1 (if available)
Gene Tree for PRB1 (if available)
Evolutionary constrained regions (ECRs) for PRB1: view image

Paralogs for PRB1 Gene

Paralogs for PRB1 Gene

(1) SIMAP similar genes for PRB1 Gene using alignment to 5 proteins:

  • A5D903_HUMAN
  • G3V1M9_HUMAN
  • G3V1R1_HUMAN
  • Q86YA1_HUMAN
genes like me logo Genes that share paralogs with PRB1: view

Variants for PRB1 Gene

Polymorphic Variants from UniProtKB/Swiss-Prot for PRB1 Gene

The number of repeats is polymorphic and varies among different alleles. The sequence shown is that of allele L (long). There are allele M (medium) and allele S (short) which contain 12 and 9 approximate tandem repeats repectively.

Sequence variations from dbSNP and Humsavar for PRB1 Gene

SNP ID Clin Chr 12 pos Variation AA Info Type
rs1001613411 -- 11,355,159(-) A/G intron_variant
rs1001834186 -- 11,356,720(-) G/A upstream_transcript_variant
rs1001941977 -- 11,356,950(-) G/A/T upstream_transcript_variant
rs1002501604 -- 11,351,986(-) G/A intron_variant
rs1003040034 -- 11,354,792(-) C/A intron_variant

Structural Variations from Database of Genomic Variants (DGV) for PRB1 Gene

Variant ID Type Subtype PubMed ID
dgv1379n100 CNV loss 25217958
dgv1380n100 CNV loss 25217958
dgv1381n100 CNV gain 25217958
dgv1382n100 CNV gain 25217958
dgv1383n100 CNV loss 25217958
dgv1384n100 CNV gain+loss 25217958
dgv13e213 CNV loss 24956385
dgv175e201 CNV deletion 23290073
dgv184n27 CNV loss 19166990
dgv2373n54 CNV loss 21841781
dgv2374n54 CNV gain 21841781
dgv2375n54 CNV gain 21841781
dgv2376n54 CNV gain+loss 21841781
dgv2377n54 CNV loss 21841781
dgv23e203 CNV gain+loss 21179565
dgv253e214 CNV gain 21293372
dgv272n67 CNV loss 20364138
dgv35n17 CNV loss 16327808
esv1483948 CNV insertion 17803354
esv2421844 OTHER complex 20811451
esv25911 CNV loss 19812545
esv2745560 CNV deletion 23290073
esv2759879 CNV loss 17122850
esv3580146 CNV loss 25503493
esv3580148 CNV loss 25503493
esv3581027 CNV gain 25503493
esv3584654 CNV gain 24956385
esv3584665 CNV gain 24956385
esv3628571 CNV loss 21293372
esv3628574 CNV loss 21293372
esv3892140 CNV gain 25118596
esv3892141 CNV loss 25118596
esv3892142 CNV gain 25118596
nsv1040563 CNV loss 25217958
nsv1159980 OTHER complex 26073780
nsv428272 CNV gain+loss 18775914
nsv437137 CNV loss 16327808
nsv438190 CNV loss 16468122
nsv482164 CNV gain 20164927
nsv509455 CNV insertion 20534489
nsv514648 CNV loss 21397061
nsv516262 CNV gain+loss 19592680
nsv557526 CNV gain 21841781
nsv557529 CNV loss 21841781
nsv557530 CNV loss 21841781
nsv608 CNV deletion 18451855
nsv821059 CNV duplication 20802225
nsv826251 CNV gain 20364138
nsv8921 CNV gain+loss 18304495
nsv976576 CNV duplication 23825009

Variation tolerance for PRB1 Gene

Residual Variation Intolerance Score: 94.7% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.79; 58.18% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for PRB1 Gene

Human Gene Mutation Database (HGMD)
SNPedia medical, phenotypic, and genealogical associations of SNPs for

SNP Genotyping and Copy Number Assay Products

Disorders for PRB1 Gene

MalaCards: The human disease database

(1) MalaCards diseases for PRB1 Gene - From: HGMD and DISEASES

Disorder Aliases PubMed IDs
transient global amnesia
  • amnesia, transient global
- elite association - COSMIC cancer census association via MalaCards
Search PRB1 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for PRB1

genes like me logo Genes that share disorders with PRB1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for PRB1 Gene

Publications for PRB1 Gene

  1. PRBI gene variants coding for length and null polymorphisms among human salivary Ps, PmF, PmS, and Pe proline-rich proteins (PRPs). (PMID: 8317492) Azen EA … Niece RL (American journal of human genetics 1993) 2 3 4 22 58
  2. The structure and evolution of the human salivary proline-rich protein gene family. (PMID: 8422499) Kim HS … Maeda N (Mammalian genome : official journal of the International Mammalian Genome Society 1993) 3 4 22 58
  3. Encoding of human basic and glycosylated proline-rich proteins by the PRB gene complex and proteolytic processing of their precursor proteins. (PMID: 9796777) Stubbs M … Bennick A (Archives of oral biology 1998) 3 22 58
  4. Length polymorphisms in human proline-rich protein genes generated by intragenic unequal crossing over. (PMID: 2851479) Lyons KM … Smithies O (Genetics 1988) 3 4 58
  5. Basic proline-rich proteins from human parotid saliva: complete covalent structures of proteins IB-1 and IB-6. (PMID: 3521730) Kauffman D … Keller P (Biochemistry 1986) 3 4 58

Products for PRB1 Gene

Sources for PRB1 Gene

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