PGA5 pepsinogen A5 [Homo sapiens (human)] - Gene

Summary

Official Symbol: PGA5provided by HGNC
Official Full Name: pepsinogen A5provided by HGNC
Primary source: HGNC:HGNC:8887
See related: Ensembl:ENSG00000256713 MIM:169730; AllianceGenome:HGNC:8887
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: Pg5
Summary: This gene encodes a protein precursor of the digestive enzyme pepsin, a member of the peptidase A1 family of endopeptidases. The encoded precursor is secreted by gastric chief cells and undergoes autocatalytic cleavage in acidic conditions to form the active enzyme, which functions in the digestion of dietary proteins. This gene is found in a cluster of related genes on chromosome 11, each of which encodes one of multiple pepsinogens. Pepsinogen levels in serum may serve as a biomarker for atrophic gastritis and gastric cancer. [provided by RefSeq, Jul 2015]
Expression: Restricted expression toward stomach (RPKM 16682.6) See more
Orthologs: all
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Genomic context

Location:: 11q12.2

Exon count:: 9

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	11	NC_000011.10 (61241175..61251444)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	11	NC_060935.1 (61230171..61240432)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	11	NC_000011.9 (61008647..61018916)

Chromosome 11 - NC_000011.10 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?

The Role of Salivary Pepsin in the Diagnosis of Gastroesophageal Reflux Disease (GERD) Evaluated Using High-Resolution Manometry and 24-Hour Multichannel Intraluminal Impedance-pH Monitoring.
Title: The Role of Salivary Pepsin in the Diagnosis of Gastroesophageal Reflux Disease (GERD) Evaluated Using High-Resolution Manometry and 24-Hour Multichannel Intraluminal Impedance-pH Monitoring.
Local synthesis of pepsin and proton pumps in BE and EAC is not uncommon. Absence of these molecules in normal (noncancer) esophagi, SCC, and in vitro data support a role for pepsin in reflux-attributed carcinogenic changes in the esophagus
Title: Esophageal pepsin and proton pump synthesis in barrett's esophagus and esophageal adenocarcinoma.
Pepsin and pepsinogen in middle ear effusion are probably caused by LPR and may be involved in the pathogenesis of OME.
Title: Role of pepsin and pepsinogen: linking laryngopharyngeal reflux with otitis media with effusion in children.
Levels of pepsinogen/pepsin A and C are higher in the mouth swabs of preterm infants with gastroesophageal reflux.
Title: Detection of pepsin in mouth swab: correlation with clinical gastroesophageal reflux in preterm infants.

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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

STS-R83655 (e-PCR)
- UniSTS:21261

GDB:197565 (e-PCR)
- UniSTS:155946

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables aspartic-type endopeptidase activity	IBA Inferred from Biological aspect of Ancestor more info

Process	Evidence Code	Pubs
involved_in digestion	IEA Inferred from Electronic Annotation more info
involved_in proteolysis	IBA Inferred from Biological aspect of Ancestor more info

Component	Evidence Code	Pubs
located_in extracellular exosome	HDA more info	PubMed
located_in multivesicular body lumen	TAS Traceable Author Statement more info

General protein information

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Preferred Names: pepsin A-5

Names: Pepsin A-4; Pepsinogen-4; pepsin A; pepsinogen 5, group I (pepsinogen A); pepsinogen-5

NP_055039.1

EC 3.4.23.1

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_014224.5 → NP_055039.1 pepsin A-5 preproprotein

See identical proteins and their annotated locations for NP_055039.1

Status: REVIEWED

Source sequence(s)

AP003037

Consensus CDS

CCDS8001.1

UniProtKB/Swiss-Prot

B7ZW62, P0DJD9

UniProtKB/TrEMBL

B7ZW66

Related

ENSP00000309542.6, ENST00000312403.10

Conserved Domains (3) summary

cd05478
Location:66 → 386

pepsin_A; Pepsin A, aspartic protease produced in gastric mucosa of mammals

pfam00026
Location:75 → 387

Asp; Eukaryotic aspartyl protease

pfam07966
Location:17 → 45

A1_Propeptide; A1 Propeptide