Ghr growth hormone receptor [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Ghrprovided by MGI
Official Full Name: growth hormone receptorprovided by MGI
Primary source: MGI:MGI:95708
See related: Ensembl:ENSMUSG00000055737 AllianceGenome:MGI:95708
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: GHBP; GHR/BP
Summary: Enables growth hormone receptor activity and peptide hormone binding activity. Involved in growth hormone receptor signaling pathway; positive regulation of peptidyl-tyrosine phosphorylation; and regulation of growth. Acts upstream of with a positive effect on taurine metabolic process. Located in nucleus and plasma membrane. Is expressed in several structures, including alimentary system; brain; early conceptus; genitourinary system; and integumental system. Used to study Laron syndrome. Human ortholog(s) of this gene implicated in several diseases, including Laron syndrome; familial hypercholesterolemia; isolated growth hormone deficiency; osteoarthritis; and type 2 diabetes mellitus. Orthologous to human GHR (growth hormone receptor). [provided by Alliance of Genome Resources, Nov 2024]
Expression: Biased expression in subcutaneous fat pad adult (RPKM 66.2), genital fat pad adult (RPKM 39.4) and 12 other tissues See more
Orthologs: human all
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Genomic context

Location:: 15 A1; 15 1.84 cM

Exon count:: 13

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	15	NC_000081.7 (3347237..3612834, complement)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	15	NC_000081.6 (3317755..3583352, complement)

Chromosome 15 - NC_000081.7 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: Mouse ENCODE transcriptome data Mouse ENCODE transcriptome data
Description: RNA profiling data sets generated by the Mouse ENCODE project.
BioProject: PRJNA66167
Publication: PMID 25409824
Analysis date: n/a

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Insulin-like Growth Factor 1, Growth Hormone, and Anti-Mullerian Hormone Receptors Are Differentially Expressed during GnRH Neuron Development.
Title: Insulin-like Growth Factor 1, Growth Hormone, and Anti-Müllerian Hormone Receptors Are Differentially Expressed during GnRH Neuron Development.
Growth hormone receptor (GHR) in AgRP neurons regulates thermogenesis in a sex-specific manner.
Title: Growth hormone receptor (GHR) in AgRP neurons regulates thermogenesis in a sex-specific manner.
Deletion of hepatic growth hormone receptor (GHR) alters the mouse gut microbiota by affecting bile acid metabolism.
Title: Deletion of hepatic growth hormone receptor (GHR) alters the mouse gut microbiota by affecting bile acid metabolism.
Growth hormone receptor contributes to the activation of STAT5 in the hypothalamus of pregnant mice.
Title: Growth hormone receptor contributes to the activation of STAT5 in the hypothalamus of pregnant mice.
Deletion of growth hormone receptor in hypothalamic neurons affects the adaptation capacity to aerobic exercise.
Title: Deletion of growth hormone receptor in hypothalamic neurons affects the adaptation capacity to aerobic exercise.
GHR(-/-) Mice are protected from obesity-related white adipose tissue inflammation.
Title: GHR(-/-) Mice are protected from obesity-related white adipose tissue inflammation.
Effects of Growth Hormone Receptor Ablation in Corticotropin-Releasing Hormone Cells.
Title: Effects of Growth Hormone Receptor Ablation in Corticotropin-Releasing Hormone Cells.
Hypothalamic GHR-SIRT1 Axis in Fasting.
Title: Hypothalamic GHR-SIRT1 Axis in Fasting.
Ghrelin-induced Food Intake, but not GH Secretion, Requires the Expression of the GH Receptor in the Brain of Male Mice.
Title: Ghrelin-induced Food Intake, but not GH Secretion, Requires the Expression of the GH Receptor in the Brain of Male Mice.
Loss of growth hormone signaling in the mouse germline or in adulthood reduces islet mass and alters islet function with notable sex differences.
Title: Loss of growth hormone signaling in the mouse germline or in adulthood reduces islet mass and alters islet function with notable sex differences.

Submit: New GeneRIF Correction See all GeneRIFs (78)

Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Chemically induced (ENU) (1)
Endonuclease-mediated (7) 1 citation
Targeted (11) 1 citation

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

D15Mit13 (e-PCR), detects polymorphism
- UniSTS:127491

Ghr (e-PCR), detects polymorphism
- UniSTS:143202

Ghr (e-PCR), detects polymorphism
- UniSTS:143203

D2Chm149 (e-PCR)
- UniSTS:518043

AA986417 (e-PCR)
- UniSTS:160432

D15Mit174 (e-PCR), detects polymorphism
- UniSTS:116428

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables SH2 domain binding	ISO Inferred from Sequence Orthology more info
enables cytokine binding	IBA Inferred from Biological aspect of Ancestor more info
enables growth factor binding	ISO Inferred from Sequence Orthology more info
enables growth hormone receptor activity	IBA Inferred from Biological aspect of Ancestor more info
enables growth hormone receptor activity	IDA Inferred from Direct Assay more info	PubMed
enables growth hormone receptor activity	ISO Inferred from Sequence Orthology more info
enables identical protein binding	ISO Inferred from Sequence Orthology more info
enables lipid binding	ISO Inferred from Sequence Orthology 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 peptide hormone binding	ISO Inferred from Sequence Orthology more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein homodimerization activity	ISO Inferred from Sequence Orthology more info
enables protein kinase binding	ISO Inferred from Sequence Orthology more info
enables protein phosphatase binding	ISO Inferred from Sequence Orthology more info

Process	Evidence Code	Pubs
involved_in cell surface receptor signaling pathway via JAK-STAT	ISO Inferred from Sequence Orthology more info
involved_in cellular response to hormone stimulus	ISO Inferred from Sequence Orthology more info
involved_in cytokine-mediated signaling pathway	IBA Inferred from Biological aspect of Ancestor more info
involved_in cytokine-mediated signaling pathway	IEA Inferred from Electronic Annotation more info
involved_in endocytosis	IEA Inferred from Electronic Annotation more info
involved_in growth hormone receptor signaling pathway	IBA Inferred from Biological aspect of Ancestor more info
involved_in growth hormone receptor signaling pathway	IDA Inferred from Direct Assay more info	PubMed
involved_in growth hormone receptor signaling pathway	ISO Inferred from Sequence Orthology more info
involved_in hormone metabolic process	ISO Inferred from Sequence Orthology more info
involved_in hormone-mediated signaling pathway	ISO Inferred from Sequence Orthology more info
involved_in insulin-like growth factor receptor signaling pathway	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of cell population proliferation	IBA Inferred from Biological aspect of Ancestor more info
involved_in positive regulation of multicellular organism growth	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of peptidyl-tyrosine phosphorylation	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of receptor signaling pathway via JAK-STAT	IBA Inferred from Biological aspect of Ancestor more info
involved_in positive regulation of receptor signaling pathway via JAK-STAT	ISO Inferred from Sequence Orthology more info
involved_in receptor internalization	ISO Inferred from Sequence Orthology more info
involved_in regulation of multicellular organism growth	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in regulation of response to nutrient levels	ISO Inferred from Sequence Orthology more info
involved_in response to cycloheximide	ISO Inferred from Sequence Orthology more info
involved_in response to estradiol	ISO Inferred from Sequence Orthology more info
acts_upstream_of_positive_effect taurine metabolic process	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
located_in cell surface	ISO Inferred from Sequence Orthology more info
located_in cytoplasmic ribonucleoprotein granule	ISO Inferred from Sequence Orthology more info
is_active_in cytosol	IBA Inferred from Biological aspect of Ancestor more info
located_in cytosol	ISO Inferred from Sequence Orthology more info
is_active_in external side of plasma membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in extracellular region	TAS Traceable Author Statement more info
located_in extracellular space	HDA more info	PubMed
located_in extracellular space	ISO Inferred from Sequence Orthology more info
part_of growth hormone receptor complex	IBA Inferred from Biological aspect of Ancestor more info
part_of growth hormone receptor complex	ISO Inferred from Sequence Orthology more info
located_in membrane	IDA Inferred from Direct Assay more info	PubMed
located_in membrane	ISO Inferred from Sequence Orthology more info
located_in neuronal cell body	ISO Inferred from Sequence Orthology more info
located_in nucleus	IDA Inferred from Direct Assay more info	PubMed
located_in plasma membrane	IDA Inferred from Direct Assay more info	PubMed
located_in plasma membrane	ISO Inferred from Sequence Orthology more info
located_in plasma membrane	TAS Traceable Author Statement more info
part_of receptor complex	ISO Inferred from Sequence Orthology more info

General protein information

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Preferred Names: growth hormone receptor

Names: GH receptor; Growth hormone receptor precursor (GH receptor) (GH binding protein) (GHBP) (Serum binding protein); growth hormone receptor/binding protein, high molecular weight; growth hormone receptor/binding protein, low molecular weight; somatotropin receptor

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_001048178.2 → NP_001041643.1 growth hormone receptor isoform 2 precursor

See identical proteins and their annotated locations for NP_001041643.1

Status: VALIDATED

Description

Transcript Variant: This variant (2) lacks several exons and uses an alternate 3'-terminal exon, compared to variant 1. The encoded isoform (2) has a shorter and distinct C-terminus, compared to isoform 1.

Source sequence(s)

AC113323, AC121307, AK143925, AK148440

Consensus CDS

CCDS37024.1

UniProtKB/Swiss-Prot

P16882

UniProtKB/TrEMBL

Q3UNY8

Related

ENSMUSP00000106326.3, ENSMUST00000110698.9

Conserved Domains (2) summary

cd00063
Location:157 → 258

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:49 → 135

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_001286370.1 → NP_001273299.1 growth hormone receptor isoform 1 precursor

See identical proteins and their annotated locations for NP_001273299.1

Status: VALIDATED

Description

Transcript Variant: This variant (4) differs in the 5' UTR, compared to variant 1. Both variants 1 and 4 encode the same isoform (1).

Source sequence(s)

AC166491, AK143886

Consensus CDS

CCDS27358.1

UniProtKB/TrEMBL

Q3UNY8, Q3UP14

Related

ENSMUSP00000124064.2, ENSMUST00000161561.8

Conserved Domains (3) summary

cd00063
Location:157 → 258

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:325 → 628

GHBP; Growth hormone receptor binding

cl21522
Location:49 → 135

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_010284.3 → NP_034414.2 growth hormone receptor isoform 1 precursor

See identical proteins and their annotated locations for NP_034414.2

Status: VALIDATED

Description

Transcript Variant: This variant (1) represents the longest transcript and encodes the longer isoform (1). Both variants 1 and 4 encode the same isoform.

Source sequence(s)

AC113323, AC166491, AK143925, AK148440

Consensus CDS

CCDS27358.1

UniProtKB/TrEMBL

Q3UNY8, Q3UP14

Related

ENSMUSP00000069457.5, ENSMUST00000069451.11

Conserved Domains (3) summary

cd00063
Location:157 → 258

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:325 → 628

GHBP; Growth hormone receptor binding

cl21522
Location:49 → 135

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 ...

RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

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

Reference GRCm39 C57BL/6J

Genomic

NC_000081.7 Reference GRCm39 C57BL/6J

Range

3347237..3612834 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

NM_001048147.1: Suppressed sequence

Description

NM_001048147.1: This RefSeq was permanently suppressed because currently there is insufficient support for the transcript.