PRLR prolactin receptor [Homo sapiens (human)] - Gene

Summary

Official Symbol: PRLRprovided by HGNC
Official Full Name: prolactin receptorprovided by HGNC
Primary source: HGNC:HGNC:9446
See related: Ensembl:ENSG00000113494 MIM:176761; AllianceGenome:HGNC:9446
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: HPRL; MFAB; hPRLrI; RI-PRLR
Summary: This gene encodes a receptor for the anterior pituitary hormone, prolactin, and belongs to the type I cytokine receptor family. Prolactin-dependent signaling occurs as the result of ligand-induced dimerization of the prolactin receptor. Several alternatively spliced transcript variants encoding different membrane-bound and soluble isoforms have been described for this gene, which may function to modulate the endocrine and autocrine effects of prolactin in normal tissue and cancer. [provided by RefSeq, Feb 2011]
Expression: Biased expression in placenta (RPKM 18.9), endometrium (RPKM 11.6) and 8 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 5p13.2

Exon count:: 16

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	5	NC_000005.10 (35048756..35230487, complement)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	5	NC_060929.1 (35295805..35484954, complement)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	5	NC_000005.9 (35048861..35230589, complement)

Chromosome 5 - NC_000005.10 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?

The prolactin receptor gene (PRLR) is linked and associated with the risk of polycystic ovarian syndrome.
Title: The prolactin receptor gene (PRLR) is linked and associated with the risk of polycystic ovarian syndrome.
The prolactin receptor scaffolds Janus kinase 2 via co-structure formation with phosphoinositide-4,5-bisphosphate.
Title: The prolactin receptor scaffolds Janus kinase 2 via co-structure formation with phosphoinositide-4,5-bisphosphate.
PRL-R Variants Are Not Only Associated With Prolactinomas But Also With Dopamine Agonist Resistance.
Title: PRL-R Variants Are Not Only Associated With Prolactinomas But Also With Dopamine Agonist Resistance.
[Prolactin and its receptor: From animal models to pituitary pathophysiology].
Title: [Prolactin and its receptor: From animal models to pituitary pathophysiology].
Prolactin receptor gene transcriptional control, regulatory modalities relevant to breast cancer resistance and invasiveness.
Title: Prolactin receptor gene transcriptional control, regulatory modalities relevant to breast cancer resistance and invasiveness.
Breast Cancer and Prolactin - New Mechanisms and Models.
Title: Breast Cancer and Prolactin - New Mechanisms and Models.
Prolactin receptor expression and its role in trophoblast outgrowth in human embryos.
Title: Prolactin receptor expression and its role in trophoblast outgrowth in human embryos.
Upregulation of Prolactin Receptor Expression and Activation of Prolactin Signaling in an Aggressive Triple-Negative Breast Carcinoma During Pregnancy: A Case Report.
Title: Upregulation of Prolactin Receptor Expression and Activation of Prolactin Signaling in an Aggressive Triple-Negative Breast Carcinoma During Pregnancy: A Case Report.
Immunohistochemical localization of prolactin receptor (PRLR) to Hodgkin's and Reed-Sternberg cells of Hodgkin's lymphoma.
Title: Immunohistochemical localization of prolactin receptor (PRLR) to Hodgkin's and Reed-Sternberg cells of Hodgkin's lymphoma.
The short isoform of PRLR suppresses the pentose phosphate pathway and nucleotide synthesis through the NEK9-Hippo axis in pancreatic cancer.
Title: The short isoform of PRLR suppresses the pentose phosphate pathway and nucleotide synthesis through the NEK9-Hippo axis in pancreatic cancer.

Submit: New GeneRIF Correction See all GeneRIFs (122)

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

Associated conditions

Description	Tests
Familial hyperprolactinemia MedGen: C4706551 OMIM: 615555 GeneReviews: Not available	Compare labs
Multiple fibroadenoma of the breast MedGen: C3809918 OMIM: 615554 GeneReviews: Not available	Compare labs

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

human.PRLR (e-PCR)
- UniSTS:181773

STS-M31661 (e-PCR)
- UniSTS:28174

D5S2592 (e-PCR)
- UniSTS:29994

RH16173 (e-PCR)
- UniSTS:13650

RH46591 (e-PCR)
- UniSTS:90728

RH102042 (e-PCR)
- UniSTS:96376

D5S1900 (e-PCR)
- UniSTS:181710

STS-W35369 (e-PCR)
- UniSTS:51923

D5S1900 (e-PCR)
- UniSTS:44788

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables cytokine binding	IBA Inferred from Biological aspect of Ancestor more info
enables lipid binding	EXP Inferred from Experiment more info	PubMed
enables lipid binding	IPI Inferred from Physical Interaction more info	PubMed
enables metal ion binding	IEA Inferred from Electronic Annotation more info
enables peptide hormone binding	IBA Inferred from Biological aspect of Ancestor more info
enables peptide hormone binding	IPI Inferred from Physical Interaction more info	PubMed
enables prolactin receptor activity	IBA Inferred from Biological aspect of Ancestor more info
enables prolactin receptor activity	IDA Inferred from Direct Assay more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein kinase binding	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
involved_in activation of Janus kinase activity	IDA Inferred from Direct Assay more info	PubMed
involved_in activation of transmembrane receptor protein tyrosine kinase activity	IDA Inferred from Direct Assay more info	PubMed
involved_in cell surface receptor signaling pathway via JAK-STAT	IEA Inferred from Electronic Annotation more info
involved_in cellular response to granulocyte macrophage colony-stimulating factor stimulus	IEA Inferred from Electronic Annotation more info
involved_in cytokine-mediated signaling pathway	IBA Inferred from Biological aspect of Ancestor more info
involved_in embryo implantation	TAS Traceable Author Statement more info	PubMed
involved_in lactation	IEA Inferred from Electronic Annotation more info
involved_in mammary gland alveolus development	IEA Inferred from Electronic Annotation more info
involved_in mammary gland epithelial cell differentiation	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of apoptotic process	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of B cell proliferation	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of cell population proliferation	IBA Inferred from Biological aspect of Ancestor more info
involved_in positive regulation of cold-induced thermogenesis	ISS Inferred from Sequence or Structural Similarity more info	PubMed
involved_in positive regulation of protein autophosphorylation	IEA Inferred from Electronic Annotation more info
involved_in prolactin signaling pathway	IEA Inferred from Electronic Annotation more info
involved_in prostate gland growth	IEA Inferred from Electronic Annotation more info
involved_in regulation of cell adhesion	IEA Inferred from Electronic Annotation more info
involved_in regulation of epithelial cell differentiation	IEA Inferred from Electronic Annotation more info
involved_in response to bacterium	IEA Inferred from Electronic Annotation more info
involved_in steroid biosynthetic process	NAS Non-traceable Author Statement more info	PubMed

Component	Evidence Code	Pubs
located_in cell surface	IDA Inferred from Direct Assay more info	PubMed
located_in endosome lumen	TAS Traceable Author Statement more info
is_active_in external side of plasma membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in extracellular region	IEA Inferred from Electronic Annotation more info
located_in plasma membrane	TAS Traceable Author Statement more info
part_of receptor complex	IBA Inferred from Biological aspect of Ancestor more info

General protein information

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Preferred Names: prolactin receptor

Names: hPRL receptor; secreted prolactin binding protein

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.

Genomic

NG_029042.2 RefSeqGene

Range

5235..180020

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_000949.7 → NP_000940.1 prolactin receptor isoform 1 precursor

See identical proteins and their annotated locations for NP_000940.1

Status: REVIEWED

Description

Transcript Variant: This variant (1) represents the longest transcript, and encodes the longest isoform (1, also known as long form).

Source sequence(s)

AC010368, AI079645, AK313270, BP357907, KF573643

Consensus CDS

CCDS3909.1

UniProtKB/Swiss-Prot

B2R882, D1MDP1, P16471, Q16354, Q8TD75, Q8TD78, Q96P35, Q96P36, Q9BX87, Q9UHJ5

Related

ENSP00000482954.1, ENST00000618457.5

Conserved Domains (3) summary

cd00063
Location:127 → 225

FN3; Fibronectin type 3 domain; One of three types of internal repeats found in the plasma protein fibronectin. Its tenth fibronectin type III repeat contains an RGD cell recognition sequence in a flexible loop between 2 strands. Approximately 2% of all ...

pfam12772
Location:286 → 362

GHBP; Growth hormone receptor binding

cl21522
Location:24 → 120

FN3; Fibronectin type 3 domain; One of three types of internal repeats found in the plasma protein fibronectin. Its tenth fibronectin type III repeat contains an RGD cell recognition sequence in a flexible loop between 2 strands. Approximately 2% of all ...
NM_001204314.2 → NP_001191243.1 prolactin receptor isoform 6 precursor

See identical proteins and their annotated locations for NP_001191243.1

Status: REVIEWED

Description

Transcript Variant: This variant (6) lacks two in-frame coding exons compared to variant 1. This results in a shorter isoform (6, also known as deltaS1) missing an internal protein segment coding for the S1 motif, compared to isoform 1. This isoform has been shown to be expressed at the protein level on the cell surface, and is functional (PMID:12351696).

Source sequence(s)

AC010368, AF349939, AI079645, DA640476, KF573643

Consensus CDS

CCDS56358.1

UniProtKB/Swiss-Prot

P16471

Related

ENSP00000482689.1, ENST00000620785.4

Conserved Domains (2) summary

cd00063
Location:26 → 124

FN3; Fibronectin type 3 domain; One of three types of internal repeats found in the plasma protein fibronectin. Its tenth fibronectin type III repeat contains an RGD cell recognition sequence in a flexible loop between 2 strands. Approximately 2% of all ...

pfam12772
Location:185 → 261

GHBP; Growth hormone receptor binding
NM_001204315.1 → NP_001191244.1 prolactin receptor isoform 2 precursor

See identical proteins and their annotated locations for NP_001191244.1

Status: REVIEWED

Description

Transcript Variant: This variant (2) is alternatively spliced at the 3' end compared to variant 1. This results in a frame-shift and a shorter isoform (2, also known as intermediate form) with a distinct C-terminus compared to isoform 1. This isoform is functional, but has different tissue specific expression and signaling pattern from isoform 1 (PMID:10585417).

Source sequence(s)

AF166329, M31661

Consensus CDS

CCDS56362.1

UniProtKB/Swiss-Prot

P16471

Related

ENSP00000484768.1, ENST00000619676.4

Conserved Domains (2) summary

cd00063
Location:127 → 225

FN3; Fibronectin type 3 domain; One of three types of internal repeats found in the plasma protein fibronectin. Its tenth fibronectin type III repeat contains an RGD cell recognition sequence in a flexible loop between 2 strands. Approximately 2% of all ...

cl21522
Location:24 → 120

FN3; Fibronectin type 3 domain; One of three types of internal repeats found in the plasma protein fibronectin. Its tenth fibronectin type III repeat contains an RGD cell recognition sequence in a flexible loop between 2 strands. Approximately 2% of all ...
NM_001204316.1 → NP_001191245.1 prolactin receptor isoform 3 precursor

See identical proteins and their annotated locations for NP_001191245.1

Status: REVIEWED

Description

Transcript Variant: This variant (3) contains an alternate 3' terminal exon compared to variant 1. This results in a frame-shift and a shorter isoform (3, also known as SF1a for short form 1a) with a distinct C-terminus compared to isoform 1. This isoform is functional with a dominant-negative effect on the function of isoform 1 (PMID:12580759).

Source sequence(s)

AF416619, M31661

Consensus CDS

CCDS56361.1

UniProtKB/Swiss-Prot

P16471

Related

ENSP00000441813.2, ENST00000542609.5

Conserved Domains (2) summary

cd00063
Location:127 → 225

FN3; Fibronectin type 3 domain; One of three types of internal repeats found in the plasma protein fibronectin. Its tenth fibronectin type III repeat contains an RGD cell recognition sequence in a flexible loop between 2 strands. Approximately 2% of all ...

cl21522
Location:24 → 120

FN3; Fibronectin type 3 domain; One of three types of internal repeats found in the plasma protein fibronectin. Its tenth fibronectin type III repeat contains an RGD cell recognition sequence in a flexible loop between 2 strands. Approximately 2% of all ...
NM_001204317.1 → NP_001191246.1 prolactin receptor isoform 4 precursor

See identical proteins and their annotated locations for NP_001191246.1

Status: REVIEWED

Description

Transcript Variant: This variant (4) is missing an exon at the 3' end, and contains an alternate 3' terminal exon compared to variant 1. This results in a frame-shift and a shorter isoform (4, also known as SF1b for short form 1b) with a distinct C-terminus compared to isoform 1. This isoform is functional with a strong dominant-negative effect on the function of isoform 1 (PMID:12580759).

Source sequence(s)

AF416618, M31661

Consensus CDS

CCDS56360.1

UniProtKB/Swiss-Prot

P16471

Related

ENSP00000425300.2, ENST00000509140.5

Conserved Domains (2) summary

cd00063
Location:127 → 225

FN3; Fibronectin type 3 domain; One of three types of internal repeats found in the plasma protein fibronectin. Its tenth fibronectin type III repeat contains an RGD cell recognition sequence in a flexible loop between 2 strands. Approximately 2% of all ...

cl21522
Location:24 → 120

FN3; Fibronectin type 3 domain; One of three types of internal repeats found in the plasma protein fibronectin. Its tenth fibronectin type III repeat contains an RGD cell recognition sequence in a flexible loop between 2 strands. Approximately 2% of all ...
NM_001204318.1 → NP_001191247.1 prolactin receptor isoform 5 precursor

See identical proteins and their annotated locations for NP_001191247.1

Status: REVIEWED

Description

Transcript Variant: This variant (5) is missing 3 consecutive exons, and contains an alternate 3' terminal exon compared to variant 1. This results in a frame-shift and a shorter isoform (5, also known as delta 7/11) with a distinct C-terminus compared to isoform 1. This isoform, lacking a transmembrane domain, but containing a complete extracellular binding domain, was shown to be a secreted, prolactin-binding protein (PMID:12580759).

Source sequence(s)

AF416619, M31661

Consensus CDS

CCDS56359.1

UniProtKB/Swiss-Prot

P16471

Related

ENSP00000422935.2, ENST00000514088.5

Conserved Domains (2) summary

cd00063
Location:127 → 225

FN3; Fibronectin type 3 domain; One of three types of internal repeats found in the plasma protein fibronectin. Its tenth fibronectin type III repeat contains an RGD cell recognition sequence in a flexible loop between 2 strands. Approximately 2% of all ...

cl21522
Location:24 → 120

FN3; Fibronectin type 3 domain; One of three types of internal repeats found in the plasma protein fibronectin. Its tenth fibronectin type III repeat contains an RGD cell recognition sequence in a flexible loop between 2 strands. Approximately 2% of all ...

RNA

NR_037910.1 RNA Sequence

Status: REVIEWED

Description

Transcript Variant: This variant (7) lacks two non-consecutive exons, and contains an alternate 3' terminal exon compared to variant 1. This variant is represented as non-coding because the use of the 5'-most supported translational start codon, as used in variant 1, renders this transcript a candidate for nonsense-mediated mRNA decay (NMD).

Source sequence(s)

AF416619, AF493069, M31661

Related

ENST00000618625.4

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000005.10 Reference GRCh38.p14 Primary Assembly

Range

35048756..35230487 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_024446131.2 → XP_024301899.1 prolactin receptor isoform X1

Conserved Domains (3) summary

cd00063
Location:161 → 259

FN3; Fibronectin type 3 domain; One of three types of internal repeats found in the plasma protein fibronectin. Its tenth fibronectin type III repeat contains an RGD cell recognition sequence in a flexible loop between 2 strands. Approximately 2% of all ...

pfam12772
Location:320 → 396

GHBP; Growth hormone receptor binding

cl21522
Location:58 → 154

FN3; Fibronectin type 3 domain; One of three types of internal repeats found in the plasma protein fibronectin. Its tenth fibronectin type III repeat contains an RGD cell recognition sequence in a flexible loop between 2 strands. Approximately 2% of all ...
XM_047417388.1 → XP_047273344.1 prolactin receptor isoform X2

UniProtKB/Swiss-Prot

B2R882, D1MDP1, P16471, Q16354, Q8TD75, Q8TD78, Q96P35, Q96P36, Q9BX87, Q9UHJ5
XM_011514068.3 → XP_011512370.1 prolactin receptor isoform X2

See identical proteins and their annotated locations for XP_011512370.1

UniProtKB/Swiss-Prot

B2R882, D1MDP1, P16471, Q16354, Q8TD75, Q8TD78, Q96P35, Q96P36, Q9BX87, Q9UHJ5

Conserved Domains (3) summary

cd00063
Location:127 → 225

FN3; Fibronectin type 3 domain; One of three types of internal repeats found in the plasma protein fibronectin. Its tenth fibronectin type III repeat contains an RGD cell recognition sequence in a flexible loop between 2 strands. Approximately 2% of all ...

pfam12772
Location:286 → 362

GHBP; Growth hormone receptor binding

cl21522
Location:24 → 120

FN3; Fibronectin type 3 domain; One of three types of internal repeats found in the plasma protein fibronectin. Its tenth fibronectin type III repeat contains an RGD cell recognition sequence in a flexible loop between 2 strands. Approximately 2% of all ...
XM_047417390.1 → XP_047273346.1 prolactin receptor isoform X2

UniProtKB/Swiss-Prot

B2R882, D1MDP1, P16471, Q16354, Q8TD75, Q8TD78, Q96P35, Q96P36, Q9BX87, Q9UHJ5
XM_006714484.3 → XP_006714547.1 prolactin receptor isoform X2

See identical proteins and their annotated locations for XP_006714547.1

UniProtKB/Swiss-Prot

B2R882, D1MDP1, P16471, Q16354, Q8TD75, Q8TD78, Q96P35, Q96P36, Q9BX87, Q9UHJ5

Conserved Domains (3) summary

cd00063
Location:127 → 225

FN3; Fibronectin type 3 domain; One of three types of internal repeats found in the plasma protein fibronectin. Its tenth fibronectin type III repeat contains an RGD cell recognition sequence in a flexible loop between 2 strands. Approximately 2% of all ...

pfam12772
Location:286 → 362

GHBP; Growth hormone receptor binding

cl21522
Location:24 → 120

FN3; Fibronectin type 3 domain; One of three types of internal repeats found in the plasma protein fibronectin. Its tenth fibronectin type III repeat contains an RGD cell recognition sequence in a flexible loop between 2 strands. Approximately 2% of all ...
XM_047417391.1 → XP_047273347.1 prolactin receptor isoform X3