PENK proenkephalin [Homo sapiens (human)] - Gene

Summary

Official Symbol: PENKprovided by HGNC
Official Full Name: proenkephalinprovided by HGNC
Primary source: HGNC:HGNC:8831
See related: Ensembl:ENSG00000181195 MIM:131330; AllianceGenome:HGNC:8831
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: PE; PENK-A
Summary: This gene encodes a preproprotein that is proteolytically processed to generate multiple protein products. These products include the pentapeptide opioids Met-enkephalin and Leu-enkephalin, which are stored in synaptic vesicles, then released into the synapse where they bind to mu- and delta-opioid receptors to modulate the perception of pain. Other non-opioid cleavage products may function in distinct biological activities. [provided by RefSeq, Jul 2015]
Expression: Biased expression in adrenal (RPKM 200.5), testis (RPKM 60.4) and 1 other tissue See more
Orthologs: mouse all
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Genomic context

Location:: 8q12.1

Exon count:: 4

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	8	NC_000008.11 (56440957..56446641, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	8	NC_060932.1 (56818203..56823883, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	8	NC_000008.10 (57353516..57359200, complement)

Chromosome 8 - NC_000008.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

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?

Plasma proenkephalin A and incident chronic kidney disease and albuminuria in the REasons for Geographic And Racial Differences in Stroke (REGARDS) cohort.
Title: Plasma proenkephalin A and incident chronic kidney disease and albuminuria in the REasons for Geographic And Racial Differences in Stroke (REGARDS) cohort.
Proenkephalin as a biomarker correlates with acute kidney injury: a systematic review with meta-analysis and trial sequential analysis.
Title: Proenkephalin as a biomarker correlates with acute kidney injury: a systematic review with meta-analysis and trial sequential analysis.
PENK inhibits osteosarcoma cell migration by activating the PI3K/Akt signaling pathway.
Title: PENK inhibits osteosarcoma cell migration by activating the PI3K/Akt signaling pathway.
PENK-A was neither independently associated with functional outcome (OR: 1.29, 95% CI: 0.16-10.35) nor mortality
Title: Proenkephalin A Adds No Incremental Prognostic Value After Acute Ischemic Stroke.
The opioid system, reflected by PENK (proenkephalin), is not only independently associated with glomerular dysfunction, but also with tubular damage in heart failure.
Title: Proenkephalin, an Opioid System Surrogate, as a Novel Comprehensive Renal Marker in Heart Failure.
High PENK is associated with increased risk of CKD defined by eGFR in men, but not in women. No association of PENK with CKD defined by urinary albumin excretion UAE was observed.
Title: Proenkephalin and risk of developing chronic kidney disease: the Prevention of Renal and Vascular End-stage Disease study.
These results demonstrate that proinflammatory molecules and endogenous enkephalin have opposite gene regulation during Dry eye disease.
Title: Proinflammatory Markers, Chemokines, and Enkephalin in Patients Suffering from Dry Eye Disease.
These data indicate that in untrained women exercise training will not change resting of plasma Peptide F concentrations unless both forms of exercise are performed but will result in significant increases in the immediate post-exercise responses.
Title: The effects of different exercise training modalities on plasma proenkephalin Peptide F in women.
The concentration of PENK 143-183 was significantly greater in patients with Moyamoya disease (MMD) than control patients and decreased in an age-dependent manner in MMD.
Title: Elevation of Proenkephalin 143-183 in Cerebrospinal Fluid in Moyamoya Disease.
Peptide F is bound to white blood cells in the blood. Exercise alters Peptide F in the plasma and white blood cell blood fractions.
Title: Responses of proenkephalin Peptide F to aerobic exercise stress in the plasma and white blood cell biocompartments.

Submit: New GeneRIF Correction See all GeneRIFs (37)

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

EBI GWAS Catalog

Description
Many sequence variants affecting diversity of adult human height. EBI GWAS Catalog EBI GWAS CatalogPubMed

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

PENK (e-PCR)
- UniSTS:504326

RH18068 (e-PCR)
- UniSTS:4648

PENK_1026 (e-PCR)
- UniSTS:277579

PENK_V284 (e-PCR)
- UniSTS:277579

RH46963 (e-PCR)
- UniSTS:47959

SHGC-106945 (e-PCR)
- UniSTS:184667

PENK (e-PCR)
- UniSTS:266857

D8S1816 (e-PCR), detects polymorphism
- UniSTS:71310

GDB:174923 (e-PCR)
- UniSTS:154780

GDB:190878 (e-PCR)
- UniSTS:155629

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables neuropeptide hormone activity	TAS Traceable Author Statement more info	PubMed
enables opioid peptide activity	IEA Inferred from Electronic Annotation more info
enables opioid peptide activity	ISS Inferred from Sequence or Structural Similarity more info
enables opioid receptor binding	IBA Inferred from Biological aspect of Ancestor more info
enables opioid receptor binding	ISS Inferred from Sequence or Structural Similarity more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in G protein-coupled opioid receptor signaling pathway	IEA Inferred from Electronic Annotation more info
involved_in aggressive behavior	IEA Inferred from Electronic Annotation more info
involved_in behavioral fear response	IEA Inferred from Electronic Annotation more info
involved_in cellular response to cAMP	IEA Inferred from Electronic Annotation more info
involved_in cellular response to oxidative stress	IEA Inferred from Electronic Annotation more info
involved_in cellular response to transforming growth factor beta stimulus	IEA Inferred from Electronic Annotation more info
involved_in cellular response to virus	IEA Inferred from Electronic Annotation more info
involved_in cellular response to vitamin D	IEA Inferred from Electronic Annotation more info
involved_in chemical synaptic transmission	IBA Inferred from Biological aspect of Ancestor more info
involved_in general adaptation syndrome, behavioral process	IEA Inferred from Electronic Annotation more info
involved_in glial cell proliferation	IEA Inferred from Electronic Annotation more info
involved_in locomotory exploration behavior	IEA Inferred from Electronic Annotation more info
involved_in neuropeptide signaling pathway	IBA Inferred from Biological aspect of Ancestor more info
involved_in osteoblast differentiation	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of behavioral fear response	IEA Inferred from Electronic Annotation more info
involved_in regulation of long-term synaptic depression	ISS Inferred from Sequence or Structural Similarity more info
involved_in response to calcium ion	IEA Inferred from Electronic Annotation more info
involved_in response to epinephrine	IEA Inferred from Electronic Annotation more info
involved_in response to estradiol	IEA Inferred from Electronic Annotation more info
involved_in response to ethanol	IEA Inferred from Electronic Annotation more info
involved_in response to hypoxia	IEA Inferred from Electronic Annotation more info
involved_in response to immobilization stress	IEA Inferred from Electronic Annotation more info
involved_in response to lipopolysaccharide	IEA Inferred from Electronic Annotation more info
involved_in response to nicotine	IEA Inferred from Electronic Annotation more info
involved_in response to toxic substance	IEA Inferred from Electronic Annotation more info
involved_in sensory perception	IBA Inferred from Biological aspect of Ancestor more info
involved_in sensory perception of pain	IEA Inferred from Electronic Annotation more info
involved_in signal transduction	IEA Inferred from Electronic Annotation more info
involved_in signal transduction	TAS Traceable Author Statement more info	PubMed
involved_in startle response	IEA Inferred from Electronic Annotation more info
involved_in synaptic signaling via neuropeptide	IEA Inferred from Electronic Annotation more info
involved_in transmission of nerve impulse	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
is_active_in axon terminus	IBA Inferred from Biological aspect of Ancestor more info
located_in cell body fiber	IEA Inferred from Electronic Annotation more info
located_in chromaffin granule lumen	IEA Inferred from Electronic Annotation more info
is_active_in dendrite	IBA Inferred from Biological aspect of Ancestor more info
located_in endoplasmic reticulum lumen	TAS Traceable Author Statement more info
located_in extracellular region	TAS Traceable Author Statement more info
is_active_in neuronal cell body	IBA Inferred from Biological aspect of Ancestor more info
located_in neuronal dense core vesicle lumen	IEA Inferred from Electronic Annotation more info
located_in perikaryon	IEA Inferred from Electronic Annotation more info
is_active_in plasma membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in symmetric synapse	IEA Inferred from Electronic Annotation more info
located_in synaptic vesicle lumen	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: proenkephalin-A

Names: enkephalin A; peptide F; preproenkephalin

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_001135690.3 → NP_001129162.1 proenkephalin-A preproprotein

See identical proteins and their annotated locations for NP_001129162.1

Status: REVIEWED

Source sequence(s)

AK314908, BI496610

Consensus CDS

CCDS6168.1

UniProtKB/Swiss-Prot

B2RC23, P01210, Q6FHC6, Q6FHE6

Related

ENSP00000400894.2, ENST00000451791.7

Conserved Domains (1) summary

pfam01160
Location:25 → 70

Opiods_neuropep; Vertebrate endogenous opioids neuropeptide

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

NC_000008.11 Reference GRCh38.p14 Primary Assembly

Range

56440957..56446641 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

NC_060932.1 Alternate T2T-CHM13v2.0

Range

56818203..56823883 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

NM_006211.3: Suppressed sequence

Description

NM_006211.3: This RefSeq was removed because currently there is not sufficient data to support this transcript.