PRB1

Summary

PRB1 (proline rich protein BstNI subfamily 1, HGNC:9337) is a protein-coding gene on chromosome 12p13.2, encoding Basic salivary proline-rich protein 1 (P04280).

Predicted to be located in extracellular region.

Source: NCBI Gene 5542 — RefSeq curated summary.

At a glance

• Clinical variants (ClinVar): 123 total

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:9337
Approved symbol	PRB1
Name	proline rich protein BstNI subfamily 1
Location	12p13.2
Locus type	gene with protein product
Status	Approved
Aliases	PM, PMF, PMS, PRB1M, PRB1L
Ensembl gene	ENSG00000251655
Ensembl biotype	protein_coding
OMIM	180989
Entrez	5542

Gene structure

Transcript identifiers

Ensembl transcripts: 3 — 2 protein_coding, 1 nonsense_mediated_decay

ENST00000240636, ENST00000500254, ENST00000545626

RefSeq mRNA: 0 — MANE Select: None

Canonical transcript exons

ENST00000240636 — 4 exons

Exon	Start	End
ENSE00002034275	11353074	11354002
ENSE00002213614	11351823	11351929
ENSE00002241430	11355490	11355590
ENSE00003508248	11354519	11354554

Expression profiles

Bgee: expression breadth broad, 56 present calls, max score 94.67.

FANTOM5 (CAGE): breadth tissue_specific, TPM avg 0.0185 / max 33.9165, expressed in 1 samples.

FANTOM5 promoters (2 alternative TSS)

Promoter ID	TPM avg	Samples expressed
129673	3.2896	7
129662	0.0185	1

Top tissues by expression

114 total, by Bgee expression score (0-100, higher = more expressed):

Tissue	Anatomy ID	Expression score	Quality
olfactory segment of nasal mucosa	UBERON:0005386	94.67	gold quality
tonsil	UBERON:0002372	65.59	gold quality
bone marrow	UBERON:0002371	63.68	gold quality
sural nerve	UBERON:0015488	62.64	gold quality
bone marrow cell	CL:0002092	62.10	silver quality
putamen	UBERON:0001874	59.27	gold quality
caudate nucleus	UBERON:0001873	58.95	gold quality
nucleus accumbens	UBERON:0001882	56.04	gold quality
colonic epithelium	UBERON:0000397	52.69	gold quality
skin of leg	UBERON:0001511	49.78	gold quality
zone of skin	UBERON:0000014	48.45	gold quality
superior frontal gyrus	UBERON:0002661	48.36	gold quality
skin of abdomen	UBERON:0001416	46.37	gold quality
Ammon’s horn	UBERON:0001954	46.27	gold quality
primary visual cortex	UBERON:0002436	46.17	gold quality
right frontal lobe	UBERON:0002810	44.41	gold quality
dorsolateral prefrontal cortex	UBERON:0009834	42.63	gold quality
cerebral cortex	UBERON:0000956	42.45	gold quality
anterior cingulate cortex	UBERON:0009835	42.29	gold quality
frontal cortex	UBERON:0001870	41.53	gold quality
Brodmann (1909) area 9	UBERON:0013540	41.31	gold quality
brain	UBERON:0000955	39.85	gold quality
granulocyte	CL:0000094	39.26	gold quality
prefrontal cortex	UBERON:0000451	39.21	gold quality
liver	UBERON:0002107	38.52	gold quality
amygdala	UBERON:0001876	37.37	gold quality
temporal lobe	UBERON:0001871	37.27	gold quality
skeletal muscle tissue	UBERON:0001134	37.07	silver quality
ventricular zone	UBERON:0003053	36.48	gold quality
cortical plate	UBERON:0005343	36.47	gold quality

Single-cell (SCXA)

Detected in 1 experiment(s), a significant marker in 0.

Experiment	Marker?	Max mean expression
E-ANND-3	no	1.41

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

6 targeting PRB1, top 30 by miRDB confidence (max_score; target_count = how many genes the miRNA targets in total — lower means more specific):

miRNA	Max score	Avg score	miRNA target_count
HSA-MIR-15B-3P	97.85	66.68	974
HSA-MIR-4639-3P	97.54	67.12	787
HSA-MIR-4670-3P	97.37	68.35	1378
HSA-MIR-6748-3P	97.20	65.66	836
HSA-MIR-6759-3P	96.94	68.31	823
HSA-MIR-616-3P	96.82	66.99	784

Literature-anchored findings (GeneRIF, showing 1)

• MP4 and Prb1 in mouse are closely related with the physiology and pathological processes of the ocular surface, and might ontribute to homeostasis of ocular surface or pathogenesis of diseases like dry eye. (PMID:27588265)

Cross-species orthologs

0 orthologs

Paralogs (6): PRR4 (ENSG00000111215), PRB2 (ENSG00000121335), PRH2 (ENSG00000134551), PRB3 (ENSG00000197870), PRB4 (ENSG00000230657), PRH1 (ENSG00000231887)

Protein

Protein identifiers

Basic salivary proline-rich protein 1 — P04280 (reviewed: P04280)

All UniProt accessions (3): A0A0D9SET1, A0A4W8X8U3, G3V1R1

UniProt curated annotations — full annotation on UniProt →

Subcellular location. Secreted.

Post-translational modifications. 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.

Polymorphism. 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 respectively.

RefSeq proteins (0): (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR026086	Pro-rich	Family

Pfam: PF15240

UniProt features (57 total): repeat 15, sequence conflict 12, compositionally biased region 10, sequence variant 5, chain 4, modified residue 4, glycosylation site 4, region of interest 2, signal peptide 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-P04280-F1	47.26	0.02

Functional residue map

Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.

Post-translational modifications (4): 17, 40, 92, 150

Glycosylation sites (4): 40, 87, 150, 330

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 27 (showing top): ENK_UV_RESPONSE_KERATINOCYTE_UP, SHEPARD_BMYB_MORPHOLINO_DN, BROWNE_HCMV_INFECTION_6HR_UP, SA_G1_AND_S_PHASES, YOSHIMURA_MAPK8_TARGETS_UP, BRUINS_UVC_RESPONSE_VIA_TP53_GROUP_A, BYSTRYKH_HEMATOPOIESIS_STEM_CELL_QTL_TRANS, RAO_BOUND_BY_SALL4_ISOFORM_A, MIR15B_3P, SA_REG_CASCADE_OF_CYCLIN_EXPR, WP_SPINAL_CORD_INJURY, DESCARTES_FETAL_ADRENAL_CSH1_CSH2_POSITIVE_CELLS, TRAVAGLINI_LUNG_SEROUS_CELL, WP_PLEURAL_MESOTHELIOMA, GSE18791_UNSTIM_VS_NEWCATSLE_VIRUS_DC_2H_UP

GO Biological Process (0):

GO Molecular Function (0):

GO Cellular Component (1): extracellular region (GO:0005576)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cellular anatomical structure	1

Protein interactions and networks

STRING

1354 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
PRB1	PRB4	P02813	956
PRB1	PRH1	P02810	890
PRB1	C4BPA	P04003	819
PRB1	RB1	P06400	786
PRB1	STATH	P02808	581
PRB1	SMR3B	P02814	513
PRB1	X6REF7	X6REF7	500
PRB1	SFTPA2	P07714	497
PRB1	OPRPN	P85047	453
PRB1	IL6R	P08887	406
PRB1	FURIN	P09958	388
PRB1	PMF1	Q6P1K2	377
PRB1	A0A087WT04	A0A087WT04	370
PRB1	PRR4	Q16378	368
PRB1	SLC29A4	Q7RTT9	351

IntAct

2 interactions, top by confidence:

A	B	Type	Score
GTF2B	NME2P1	psi-mi:“MI:0914”(association)	0.350

BioGRID (25): UBQLN1 (Two-hybrid), PRB1 (Affinity Capture-MS), PRB1 (Reconstituted Complex), PRB1 (Affinity Capture-MS), PRB1 (Positive Genetic), PRB1 (Two-hybrid), PRB1 (Two-hybrid), PRB1 (Two-hybrid), PRB1 (Two-hybrid), PRB1 (Two-hybrid), PRB1 (Two-hybrid), PRB1 (Two-hybrid), PRB1 (Two-hybrid), PRB1 (Two-hybrid), PRB1 (Two-hybrid)

ESM2 similar proteins: A0A087WUL8, A0A1D9BZF0, B2SU53, F8W0I5, H0YM25, O36421, O46383, P02812, P02849, P02895, P03211, P04280, P04927, P04928, P06916, P08116, P08676, P08726, P09593, P0DPF3, P0DX00, P12027, P13813, P13822, P14708, P16230, P17437, P21850, Q01033, Q01042, Q03400, Q04118, Q1HVF7, Q26005, Q27905, Q3BBV0, Q3KSS4, Q4WW98, Q54G14, Q5MJ10

Diamond homologs: P02810, P02812, P04280, Q04118, Q16378, P10163

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

123 variants total. Per-class counts are floors (≥ shown; pagination cap):

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	112
Likely benign	7
Benign	1

Top pathogenic / likely-pathogenic (0)

SpliceAI

267 predictions. Top by Δscore:

Variant	Effect	Δscore
12:11353998:ATTTC:A	acceptor_gain	1.0000
12:11353999:TTTC:T	acceptor_gain	1.0000
12:11354000:TTC:T	acceptor_gain	1.0000
12:11354000:TTCC:T	acceptor_loss	1.0000
12:11354001:TC:T	acceptor_gain	1.0000
12:11354002:CC:C	acceptor_gain	1.0000
12:11354003:C:A	acceptor_loss	1.0000
12:11354003:C:CC	acceptor_gain	1.0000
12:11354003:C:T	acceptor_gain	1.0000
12:11354004:T:C	acceptor_loss	1.0000
12:11354011:C:CT	acceptor_gain	1.0000
12:11354012:A:T	acceptor_gain	1.0000
12:11353068:TCATA:T	donor_loss	0.9900
12:11353069:CATA:C	donor_loss	0.9900
12:11353070:ATAC:A	donor_loss	0.9900
12:11353071:TAC:T	donor_loss	0.9900
12:11353072:ACC:A	donor_loss	0.9900
12:11353073:C:G	donor_loss	0.9900
12:11353999:TTTCC:T	acceptor_gain	0.9900
12:11354000:TTCCT:T	acceptor_gain	0.9900
12:11355486:TTA:T	donor_loss	0.9900
12:11355487:TA:T	donor_loss	0.9900
12:11355489:C:CA	donor_loss	0.9900
12:11351926:CTTC:C	acceptor_gain	0.9800
12:11354001:TCCT:T	acceptor_gain	0.9800
12:11351928:TCCT:T	acceptor_loss	0.9700
12:11351929:CCTG:C	acceptor_loss	0.9700
12:11351930:C:A	acceptor_loss	0.9700
12:11351931:TGAAA:T	acceptor_loss	0.9700
12:11354002:CCTG:C	acceptor_gain	0.9700

AlphaMissense

927 scored. Top likely-pathogenic:

dbSNP variants (sampled 300 via entrez): RS1001613411 (12:11355159 A>G), RS1001834186 (12:11356720 G>A), RS1001941977 (12:11356950 G>A,C,T), RS1002501604 (12:11351986 G>A,C), RS1003040034 (12:11354792 C>A), RS1004869310 (12:11355292 C>A,T), RS1005307269 (12:11355684 G>A,C,T), RS1005900671 (12:11354180 A>C), RS1005976583 (12:11351622 G>T), RS1006283943 (12:11353176 A>G,T), RS1006705566 (12:11357423 T>C), RS1009044932 (12:11355871 A>G,T), RS1009353147 (12:11356351 G>A), RS1010132510 (12:11356654 T>C), RS1010720794 (12:11354727 G>A)

Disease associations

OMIM: gene MIM:180989 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

0 total (0 of 0 shown, HPO-id order):

GWAS associations

0 associations (top):

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

PharmGKB: 1 entry (VIP=true, CPIC=false)

CTD chemical–gene interactions

9 total (human), top 9 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Resveratrol	decreases expression, affects cotreatment	1
Air Pollutants	increases abundance, increases expression	1
Benzo(a)pyrene	increases methylation	1
Plant Extracts	affects cotreatment, decreases expression	1
Propylthiouracil	affects response to substance	1
Silicon Dioxide	increases expression	1
Smoke	decreases expression	1
Zinc	decreases expression	1
Particulate Matter	increases abundance, increases expression	1

Clinical trials (associated diseases)

0 trials via MONDO — disease-level, not drug-specific.