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

Summary

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; AllianceGenome:HGNC:9340
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
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Genomic context

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 (11307077..11310436, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	12	NC_060936.1 (11176189..11179610, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	12	NC_000012.11 (11460011..11463370, complement)

Chromosome 12 - NC_000012.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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.

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Phenotypes

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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)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

RH71347 (e-PCR)
- UniSTS:3684

NoName (e-PCR)
- UniSTS:484302

Gene Ontology Provided by GOA

Component	Evidence Code	Pubs
located_in 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)

NM_001261399.3 → NP_001248328.1 basic salivary proline-rich protein 4 isoform 2 preproprotein

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

A2VCL9, E7EXA8

Related

ENSP00000481695.1, ENST00000621732.4

Conserved Domains (1) summary

pfam15240
Location:89 → 176

Pro-rich; Proline-rich
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, ENST00000279575.7

Conserved Domains (1) summary

pfam15240
Location:68 → 170

Pro-rich; Proline-rich