PRL (Prolactin) Gene

Prolactin: A key hormone in lactation, reproduction, and immune modulation

Gene Information Card

Symbol PRL
Full Name Prolactin
Gene Type protein-coding
Chromosomal Location 6p22.3
NCBI Gene ID 5617 ncbi.nlm.nih.gov/gene/5617
Ensembl ID ENSG00000172179
UniProt ID P01236
OMIM ID 176760
HGNC ID 9345
Aliases hPRL, PRL-1, GHA1

Description

The PRL gene encodes prolactin, a peptide hormone primarily synthesized and secreted by the anterior pituitary gland. Prolactin plays essential roles in lactation, reproductive function, osmoregulation, and immune modulation. It acts through the prolactin receptor (PRLR) to regulate gene expression and cellular signaling.

Disease Associations

Disease category Pathophysiological mechanism Genomic evidence
Hyperprolactinemia Elevated serum prolactin due to PRL gene overexpression or pituitary adenoma ClinVar, OMIM
Prolactinoma Benign pituitary tumor secreting excess prolactin; often associated with PRL gene amplification or somatic mutations OMIM, COSMIC
Infertility (female) Disruption of hypothalamic-pituitary-ovarian axis by hyperprolactinemia ClinVar
Galactorrhea Non-puerperal milk secretion due to elevated prolactin levels OMIM

Expression Profile

Tissue Expression
Tissue nTPM level
Pituitary Gland >1000 High
Placenta ~50 Medium
Breast ~20 Low
Endometrium ~10 Low
Cell Line Expression
Cell Line nTPM Notes
MCF-7 (breast cancer) ~30 PRL expression detected
HeLa (cervical cancer) ~5 Low expression
HepG2 (liver cancer) ~2 Very low
Data source:Human Protein Atlas(proteinatlas.org)

Mutations & Variants

Hotspot Mutations
Variant Type Frequency Functional Description
c.211C>T (p.Arg71Trp) Missense <0.01% Reduced receptor binding affinity
c.68G>A (p.Arg23Gln) Missense <0.01% Altered secretion
c.344G>A (p.Arg115His) Missense <0.01% Unknown functional effect
Mutation functional classification

Loss of Function (LOF)

Rare missense variants (e.g., p.Arg71Trp) reduce prolactin receptor binding and signaling.

Gain of Function (GOF)

Not well documented; somatic mutations in prolactinomas may increase secretion.

Dominant Negative (DN)

No dominant-negative mutations reported.

Gene Ontology (GO)

• hormone activity • prolactin receptor binding
• extracellular space • positive regulation of lactation
• positive regulation of cell proliferation

Pathways

• Prolactin signaling pathway (KEGG hsa04917)
• Neuroactive ligand-receptor interaction (KEGG hsa04080)

Protein Summary

Prolactin is a 199-amino-acid single-chain polypeptide hormone with a four-helix bundle structure. It is synthesized as a preprohormone and cleaved to the mature form. Prolactin binds to the prolactin receptor (PRLR) to activate JAK2/STAT5, MAPK, and PI3K/Akt pathways, promoting milk protein synthesis, cell growth, and differentiation.

Related Products

Product name Cat.No. Species Gene ID
PRL Knockout HEK293 Cell Line EDJ-KQ522 Human 5617 Details Get a Quote
PRLR Knockout HEK293 Cell Line EDJ-KQ523 Human 5618 Details Get a Quote
PRLHR Knockout HEK293 Cell Line EDJ-KQ4777 Human 2834 Details Get a Quote
PRLH Knockout HEK293 Cell Line EDJ-KQ10889 Human 51052 Details Get a Quote
Prlr Knockout HT22 Cell Line EDJ-KZ415 Mouse 19116 Details Get a Quote
PRLHR Knockout HeLa Cell Line EDJ-KQ53389 Human 2834 Details Get a Quote
PRL Knockout HeLa Cell Line EDJ-KQ54218 Human 5617 Details Get a Quote
PRLR Knockout HeLa Cell Line EDJ-KQ54219 Human 5618 Details Get a Quote
PRLH Knockout HeLa Cell Line EDJ-KQ56220 Human 51052 Details Get a Quote
PRLHR Knockout A-549 Cell Line EDJ-KQ61867 Human 2834 Details Get a Quote
PRL Knockout A-549 Cell Line EDJ-KQ62712 Human 5617 Details Get a Quote
PRLR Knockout A-549 Cell Line EDJ-KQ62713 Human 5618 Details Get a Quote
PRLH Knockout A-549 Cell Line EDJ-KQ64711 Human 51052 Details Get a Quote
PRLHR Knockout HCT 116 Cell Line EDJ-KQ70349 Human 2834 Details Get a Quote
PRL Knockout HCT 116 Cell Line EDJ-KQ71184 Human 5617 Details Get a Quote
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