GHR growth hormone receptor [Homo sapiens] - Gene

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Summary

Official Symbol: GHRprovided by HGNC
Official Full Name: growth hormone receptorprovided by HGNC
Primary source: HGNC:4263
See related: Ensembl:ENSG00000112964; HPRD:02971; MIM:600946; Vega:OTTHUMG00000094791
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: GHBP
Summary: This gene encodes a member of the type I cytokine receptor family, which is a transmembrane receptor for growth hormone. Binding of growth hormone to the receptor leads to receptor dimerization and the activation of an intra- and intercellular signal transduction pathway leading to growth. Mutations in this gene have been associated with Laron syndrome, also known as the growth hormone insensitivity syndrome (GHIS), a disorder characterized by short stature. In humans and rabbits, but not rodents, growth hormone binding protein (GHBP) is generated by proteolytic cleavage of the extracellular ligand-binding domain from the mature growth hormone receptor protein. Multiple alternatively spliced transcript variants have been found for this gene.[provided by RefSeq, Jun 2011]

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Genomic context

Location :: 5p13-p12

Sequence :: Chromosome: 5; NC_000005.9 (42423877..42721980)

See GHR in Epigenomics, MapViewer

Chromosome 5 - NC_000005.9 Genomic Context describing neighboring genes

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Genomic regions, transcripts, and products

Genomic Sequence

Go to nucleotideGraphics FASTA GenBank

Go to reference sequence details

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Bibliography

GeneRIFs: Gene References Into Functions What's a GeneRIF?

The exon 3-deleted GHR explains the better growth response to GH only for the first and not for the second year.
Title: Different relationships between the first 2 years on growth hormone treatment and the d3-growth hormone receptor polymorphism in short small-for-gestational-age (SGA) children.
The results of this study demonstrated that patients with Prader-Willi syndrome (PWS) carrying one d3GHR allele had significantly greater height.
Title: A polymorphism in the growth hormone receptor is associated with height in children with Prader-Willi syndrome.
Data suggest that the d3-polymorphism of the growth hormone receptor seems to be associated with a higher efficacy to growth hormone replacement, at least at the beginning of the treatment.
Title: Correlation of fl/d3 polymorphism of growth hormone receptor with the first- and second-year response to recombinant human growth hormone therapy in pre-pubertal Greek children with idiopathic isolated growth hormone deficiency.
A better response of d3GHR to PEG-V treatment in acromegaly.
Title: Growth hormone receptor variants and response to pegvisomant in monotherapy or in combination with somatostatin analogs in acromegalic patients: a multicenter study.
Mutations in the region of the GHR gene that codes for the extracellular domain of the receptor were found in 15.5%; one newly described mutation was recorded.
Title: Growth hormone/IGF-I axis and growth hormone receptor mutations in idiopathic short stature.
Results support hypothesis that, with obesity, there is lower GHR expression in the adipocyte, and suggest one possible explanation why GH supplementation is not an effective treatment for individuals with idiopathic obesity.
Title: Human growth hormone receptor (GHR) expression in obesity: I. GHR mRNA expression in omental and subcutaneous adipose tissues of obese women.
the c.899dupC variant is a novel dominant negative mutation that disrupted normal GHR signaling and is the cause for the GH insensitivity phenotype of a severe short stature patient previously described
Title: The growth hormone receptor (GHR) c.899dupC mutation functions as a dominant negative: insights into the pathophysiology of intracellular GHR defects.
SOCS2 regulates cellular growth hormone receptor levels through direct ubiquitination and in a proteasomally dependent manner
Title: The SOCS2 ubiquitin ligase complex regulates growth hormone receptor levels.
GHR exon 3 polymorphism is associated with PCOS in Han Chinese women.
Title: Evaluation of the association between GHR exon 3 polymorphism and polycystic ovary syndrome among Han Chinese women.
the exon 3 GHR polymorphism is associated with responsiveness to recombinant GH treatment in small for gestational age children with short stature
Title: GH responsiveness in a large multinational cohort of SGA children with short stature (NESTEGG) is related to the exon 3 GHR polymorphism.

Submit: New GeneRIF Correction See all (132)

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Phenotypes

Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Association of systemic lupus erythematosus with C8orf13-BLK and ITGAM-ITGAX.

Hypercholesterolemia, familial, modification of

MIM: 143890

Increased responsiveness to growth hormone

MIM: 600946

Variants in TF and HFE explain approximately 40% of genetic variation in serum-transferrin levels.

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Products	Interactant	Other Gene	Source	Pubs	Description
P10912	O95782	AP2A1	HPRD	PubMed
P10912	Q9NSE2	CISH	HPRD	PubMed
P10912	P01242	GH2	HPRD	PubMed
P10912	P10912	GHR	HPRD	PubMed
P10912	Q13322	GRB10	HPRD	PubMed
P10912	P62993	GRB2	HPRD	PubMed
P10912	P35568	IRS1	HPRD	PubMed
P10912	P23458	JAK1	HPRD	PubMed
P10912	O60674	JAK2	HPRD	PubMed
P10912	Q14686	NCOA6	HPRD	PubMed
P10912	P27986	PIK3R1	HPRD	PubMed
P10912	P16471	PRLR	HPRD	PubMed
P10912	Q06124	PTPN11	HPRD	PubMed
P10912	P17706	PTPN2	HPRD	PubMed
P10912	P29350	PTPN6	HPRD	PubMed
P10912	O43765	SGTA	HPRD	PubMed
P10912	P29353	SHC1	HPRD	PubMed
P10912	O15524	SOCS1	HPRD	PubMed
P10912	O14508	SOCS2	HPRD	PubMed
P10912	O14543	SOCS3	HPRD	PubMed
P10912	P40763	STAT3	HPRD	PubMed
P10912	P42229	STAT5A	HPRD	PubMed
P10912	P51692	STAT5B	HPRD	PubMed
P10912	P29597	TYK2	HPRD	PubMed
BioGRID:108957	BioGRID:114457	BTRC	BioGRID	PubMed	Reconstituted Complex
BioGRID:108957	BioGRID:107574	CISH	BioGRID	PubMed	Affinity Capture-Western; Reconstituted Complex
BioGRID:108957	BioGRID:108182	DUSP7	BioGRID	PubMed	Reconstituted Complex
BioGRID:108957	BioGRID:108955	GH1	BioGRID	PubMed	Reconstituted Complex
BioGRID:108957	BioGRID:109144	GRB10	BioGRID	PubMed	Affinity Capture-Western
BioGRID:108957	BioGRID:109142	GRB2	BioGRID	PubMed	Reconstituted Complex
BioGRID:108957	BioGRID:109919	JAK1	BioGRID	PubMed	Affinity Capture-Western
BioGRID:108957	BioGRID:109920	JAK2	BioGRID	PubMed	Affinity Capture-Western
BioGRID:108957	BioGRID:111313	PIK3R1	BioGRID	PubMed	Reconstituted Complex
BioGRID:108957	BioGRID:111351	PLCG1	BioGRID	PubMed	Reconstituted Complex
BioGRID:108957	BioGRID:111736	PTPN1	BioGRID	PubMed	Far Western; Reconstituted Complex
BioGRID:108957	BioGRID:111745	PTPN11	BioGRID	PubMed	Reconstituted Complex
BioGRID:108957	BioGRID:111747	PTPN13	BioGRID	PubMed	Far Western
BioGRID:108957	BioGRID:111737	PTPN2	BioGRID	PubMed	Far Western; Reconstituted Complex
BioGRID:108957	BioGRID:111740	PTPN3	BioGRID	PubMed	Far Western; Reconstituted Complex
BioGRID:108957	BioGRID:111744	PTPN9	BioGRID	PubMed	Far Western; Reconstituted Complex
BioGRID:108957	BioGRID:111751	PTPRB	BioGRID	PubMed	Reconstituted Complex
BioGRID:108957	BioGRID:111758	PTPRH	BioGRID	PubMed	Far Western; Reconstituted Complex
BioGRID:108957	BioGRID:112347	SGTA	BioGRID	PubMed	Affinity Capture-MS; Affinity Capture-Western; Reconstituted Complex
BioGRID:108957	BioGRID:112361	SHC1	BioGRID	PubMed	Reconstituted Complex
BioGRID:108957	BioGRID:114203	SOCS1	BioGRID	PubMed	Affinity Capture-Western; Reconstituted Complex
BioGRID:108957	BioGRID:114362	SOCS2	BioGRID	PubMed	Biochemical Activity; Reconstituted Complex
BioGRID:108957	BioGRID:114488	SOCS3	BioGRID	PubMed	Reconstituted Complex
BioGRID:108957	BioGRID:112651	STAT3	BioGRID	PubMed	Reconstituted Complex
BioGRID:108957	BioGRID:112654	STAT5B	BioGRID	PubMed	Reconstituted Complex
BioGRID:108957	BioGRID:113148	TYK2	BioGRID	PubMed	Affinity Capture-Western
BioGRID:108957	BioGRID:204403	Ubc	BioGRID	PubMed	Affinity Capture-Western

Function	Evidence Code	Pubs
SH2 domain binding	IEA Inferred from Electronic Annotation more info
growth factor binding	IPI Inferred from Physical Interaction more info	PubMed
growth hormone receptor activity	IEA Inferred from Electronic Annotation more info
peptide hormone binding	IPI Inferred from Physical Interaction more info	PubMed
proline-rich region binding	ISS Inferred from Sequence or Structural Similarity more info	PubMed
protein binding	IPI Inferred from Physical Interaction more info	PubMed
protein homodimerization activity	IDA Inferred from Direct Assay more info	PubMed
protein kinase binding	ISS Inferred from Sequence or Structural Similarity more info
protein phosphatase binding	IEA Inferred from Electronic Annotation more info
receptor activity	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
2-oxoglutarate metabolic process	ISS Inferred from Sequence or Structural Similarity more info
JAK-STAT cascade	ISS Inferred from Sequence or Structural Similarity more info
JAK-STAT cascade involved in growth hormone signaling pathway	TAS Traceable Author Statement more info
activation of JAK2 kinase activity	ISS Inferred from Sequence or Structural Similarity more info
activation of MAPK activity	ISS Inferred from Sequence or Structural Similarity more info
allantoin metabolic process	ISS Inferred from Sequence or Structural Similarity more info
cartilage development involved in endochondral bone morphogenesis	IEA Inferred from Electronic Annotation more info
cellular response to hormone stimulus	IMP Inferred from Mutant Phenotype more info	PubMed
cellular response to insulin stimulus	IEA Inferred from Electronic Annotation more info
citrate metabolic process	ISS Inferred from Sequence or Structural Similarity more info
creatine metabolic process	ISS Inferred from Sequence or Structural Similarity more info
creatinine metabolic process	ISS Inferred from Sequence or Structural Similarity more info
endocytosis	IEA Inferred from Electronic Annotation more info
fatty acid metabolic process	ISS Inferred from Sequence or Structural Similarity more info
growth hormone receptor signaling pathway	IMP Inferred from Mutant Phenotype more info	PubMed
hormone-mediated signaling pathway	IEA Inferred from Electronic Annotation more info
insulin-like growth factor receptor signaling pathway	IMP Inferred from Mutant Phenotype more info	PubMed
isoleucine metabolic process	ISS Inferred from Sequence or Structural Similarity more info
multicellular organismal metabolic process	IMP Inferred from Mutant Phenotype more info	PubMed
neuroprotection	IEA Inferred from Electronic Annotation more info
oxaloacetate metabolic process	ISS Inferred from Sequence or Structural Similarity more info
positive regulation of JAK-STAT cascade	IEA Inferred from Electronic Annotation more info
positive regulation of cell differentiation	IEA Inferred from Electronic Annotation more info
positive regulation of multicellular organism growth	IMP Inferred from Mutant Phenotype more info	PubMed
positive regulation of peptidyl-tyrosine phosphorylation	ISS Inferred from Sequence or Structural Similarity more info
positive regulation of tyrosine phosphorylation of Stat3 protein	ISS Inferred from Sequence or Structural Similarity more info	PubMed
positive regulation of tyrosine phosphorylation of Stat5 protein	ISS Inferred from Sequence or Structural Similarity more info	PubMed
receptor internalization	IDA Inferred from Direct Assay more info	PubMed
NOT receptor internalization	IDA Inferred from Direct Assay more info	PubMed
regulation of multicellular organism growth	ISS Inferred from Sequence or Structural Similarity more info
response to cycloheximide	IDA Inferred from Direct Assay more info	PubMed
NOT response to cycloheximide	IDA Inferred from Direct Assay more info	PubMed
response to estradiol stimulus	IDA Inferred from Direct Assay more info	PubMed
response to food	IEA Inferred from Electronic Annotation more info
response to glucocorticoid stimulus	IEA Inferred from Electronic Annotation more info
response to interleukin-1	IEA Inferred from Electronic Annotation more info
response to morphine	IEA Inferred from Electronic Annotation more info
response to peptide hormone stimulus	IEA Inferred from Electronic Annotation more info
succinate metabolic process	ISS Inferred from Sequence or Structural Similarity more info
taurine metabolic process	ISS Inferred from Sequence or Structural Similarity more info
valine metabolic process	ISS Inferred from Sequence or Structural Similarity more info

Component	Evidence Code	Pubs
cell surface	IDA Inferred from Direct Assay more info	PubMed
cytoplasm	IEA Inferred from Electronic Annotation more info
extracellular region	TAS Traceable Author Statement more info
extracellular space	IDA Inferred from Direct Assay more info	PubMed
extracellular space	IMP Inferred from Mutant Phenotype more info	PubMed
extrinsic to membrane	IEA Inferred from Electronic Annotation more info
growth hormone receptor complex	IDA Inferred from Direct Assay more info	PubMed
integral to membrane	IDA Inferred from Direct Assay more info	PubMed
integral to plasma membrane	IDA Inferred from Direct Assay more info	PubMed
mitochondrion	IEA Inferred from Electronic Annotation more info
neuronal cell body	IEA Inferred from Electronic Annotation more info
nucleus	IEA Inferred from Electronic Annotation more info
plasma membrane	TAS Traceable Author Statement more info
receptor complex	IDA Inferred from Direct Assay more info	PubMed

General protein information

Preferred Names: growth hormone receptor

Names: growth hormone receptor; GH receptor; serum binding protein; somatotropin receptor; growth hormone binding protein

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NCBI Reference Sequences (RefSeq)

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_011688.1 RefSeqGene

Range

4852..302955

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_000163.4 → NP_000154.1 growth hormone receptor isoform 1 precursor

Status: REVIEWED

Description

Transcript Variant: This variant (1, also known as V2) and variants 3 through 9 encode the predominant protein (isoform 1).

Source sequence(s)

AC113368, AC116343, X06562, Z11801

Consensus CDS

CCDS3940.1

UniProtKB/Swiss-Prot

P10912

Related

ENSP00000230882, OTTHUMP00000120020, ENST00000230882, OTTHUMT00000211605

Conserved Domains (3) summary

cd00063
Location:149 – 250
Blast Score: 122

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:316 – 621
Blast Score: 989

GHBP; Growth hormone receptor binding

cl12153
Location:49 – 127
Blast Score: 153

IL6Ra-bind; Interleukin-6 receptor alpha chain, binding
NM_001242399.2 → NP_001229328.1 growth hormone receptor isoform 2 precursor

Status: REVIEWED

Description

Transcript Variant: This variant (2, also known as V9B) has an alternate 5' exon, which includes an in-frame AUG start codon, compared to variant 1. The resulting isoform (2) has a longer N-terminus, compared to isoform 1.

Source sequence(s)

AC113368, AF230801, X06562

UniProtKB/Swiss-Prot

P10912

Conserved Domains (3) summary

cd00063
Location:156 – 257
Blast Score: 121

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 ...

cl12153
Location:56 – 134
Blast Score: 154

EpoR_lig-bind; Erythropoietin receptor, ligand binding

pfam12772
Location:323 – 628
Blast Score: 991

GHBP; Growth hormone receptor binding
NM_001242400.2 → NP_001229329.1 growth hormone receptor isoform 1 precursor

Status: REVIEWED

Description

Transcript Variant: This variant (3, also known as V9A) has an alternate 5' UTR and encodes the same isoform 1, compared to variant 1.

Source sequence(s)

AC113368, AF230800, AF230801, X06562

Consensus CDS

CCDS3940.1

UniProtKB/Swiss-Prot

P10912

Conserved Domains (3) summary

cd00063
Location:149 – 250
Blast Score: 122

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:316 – 621
Blast Score: 989

GHBP; Growth hormone receptor binding

cl12153
Location:49 – 127
Blast Score: 153

IL6Ra-bind; Interleukin-6 receptor alpha chain, binding
NM_001242401.3 → NP_001229330.1 growth hormone receptor isoform 1 precursor

Status: REVIEWED

Description

Transcript Variant: This variant (4, also known as V3) has an alternate 5' UTR and encodes the same isoform 1, compared to variant 1.

Source sequence(s)

AC113368, X06562, Z11851

Consensus CDS

CCDS3940.1

UniProtKB/Swiss-Prot

P10912

Conserved Domains (3) summary

cd00063
Location:149 – 250
Blast Score: 122

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:316 – 621
Blast Score: 989

GHBP; Growth hormone receptor binding

cl12153
Location:49 – 127
Blast Score: 153

IL6Ra-bind; Interleukin-6 receptor alpha chain, binding
NM_001242402.2 → NP_001229331.1 growth hormone receptor isoform 1 precursor

Status: REVIEWED

Description

Transcript Variant: This variant (5, also known as V7) has an alternate 5' UTR exon and encodes the same isoform 1, compared to variant 1.

Source sequence(s)

AC113368, AC114941, X06562, Z11853

Consensus CDS

CCDS3940.1

UniProtKB/Swiss-Prot

P10912

Conserved Domains (3) summary

cd00063
Location:149 – 250
Blast Score: 122

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:316 – 621
Blast Score: 989

GHBP; Growth hormone receptor binding

cl12153
Location:49 – 127
Blast Score: 153

IL6Ra-bind; Interleukin-6 receptor alpha chain, binding
NM_001242403.2 → NP_001229332.1 growth hormone receptor isoform 1 precursor

Status: REVIEWED

Description

Transcript Variant: This variant (6, also known as V1) has an alternate 5' UTR exon and encodes the same isoform 1, compared to variant 1.

Source sequence(s)

AC113368, X06562, Z11802

Consensus CDS

CCDS3940.1

UniProtKB/Swiss-Prot

P10912

Conserved Domains (3) summary

cd00063
Location:149 – 250
Blast Score: 122

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:316 – 621
Blast Score: 989

GHBP; Growth hormone receptor binding

cl12153
Location:49 – 127
Blast Score: 153

IL6Ra-bind; Interleukin-6 receptor alpha chain, binding
NM_001242404.2 → NP_001229333.1 growth hormone receptor isoform 1 precursor

Status: REVIEWED

Description

Transcript Variant: This variant (7, also known as V4) has an alternate 5' UTR exon and encodes the same isoform 1, compared to variant 1.

Source sequence(s)

AC113368, X06562, Z11849

Consensus CDS

CCDS3940.1

UniProtKB/Swiss-Prot

P10912

Conserved Domains (3) summary

cd00063
Location:149 – 250
Blast Score: 122

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:316 – 621
Blast Score: 989

GHBP; Growth hormone receptor binding

cl12153
Location:49 – 127
Blast Score: 153

IL6Ra-bind; Interleukin-6 receptor alpha chain, binding
NM_001242405.2 → NP_001229334.1 growth hormone receptor isoform 1 precursor

Status: REVIEWED

Description

Transcript Variant: This variant (8, also known as V8) has an alternate 5' UTR exon and encodes the same isoform 1, compared to variant 1.

Source sequence(s)

AC113368, X06562, Z11848

Consensus CDS

CCDS3940.1

UniProtKB/Swiss-Prot

P10912

Conserved Domains (3) summary

cd00063
Location:149 – 250
Blast Score: 122

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:316 – 621
Blast Score: 989

GHBP; Growth hormone receptor binding

cl12153
Location:49 – 127
Blast Score: 153

IL6Ra-bind; Interleukin-6 receptor alpha chain, binding
NM_001242406.2 → NP_001229335.1 growth hormone receptor isoform 1 precursor

Status: REVIEWED

Description

Transcript Variant: This variant (9, also known as V5) has an alternate 5' UTR exon and encodes the same isoform 1, compared to variant 1.

Source sequence(s)

AC113368, AC114941, X06562, Z11850

Consensus CDS

CCDS3940.1

UniProtKB/Swiss-Prot

P10912

Conserved Domains (3) summary

cd00063
Location:149 – 250
Blast Score: 122

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:316 – 621
Blast Score: 989

GHBP; Growth hormone receptor binding

cl12153
Location:49 – 127
Blast Score: 153

IL6Ra-bind; Interleukin-6 receptor alpha chain, binding
NM_001242460.1 → NP_001229389.1 growth hormone receptor isoform 3 precursor

Status: REVIEWED

Description

Transcript Variant: This variant (10, also known as GHRd3) lacks an in-frame coding exon in the 5' region, compared to variant 1. The resulting isoform (3) lacks an internal segment, compared to isoform 1.

Source sequence(s)

AC113368, X06562

Consensus CDS

CCDS56364.1

UniProtKB/Swiss-Prot

P10912

Related

ENSP00000350335, ENST00000357703

Conserved Domains (3) summary

cd00063
Location:127 – 228
Blast Score: 122

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 ...

cl12153
Location:27 – 105
Blast Score: 152

EpoR_lig-bind; Erythropoietin receptor, ligand binding

pfam12772
Location:294 – 599
Blast Score: 991

GHBP; Growth hormone receptor binding
NM_001242461.1 → NP_001229390.1 growth hormone receptor isoform 4 precursor

Status: REVIEWED

Description

Transcript Variant: This variant (11, also known as GHR1-279) has an alternate splice site in the 3' coding region, compared to variant 1. The resulting transcript is a nonsense-mediated mRNA decay candidate, but the transcript and resulting isoform (4) are reported in publications (PMIDs:8855247,9360546 and 9058373) with experimental evidence. The isoform 4 has a shorter and distinct C-terminus, compared to isoform 1.

Source sequence(s)

AC113368, X06562

UniProtKB/Swiss-Prot

P10912

Conserved Domains (2) summary

cd00063
Location:149 – 250
Blast Score: 115

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 ...

cl12153
Location:49 – 127
Blast Score: 146

EpoR_lig-bind; Erythropoietin receptor, ligand binding
NM_001242462.1 → NP_001229391.1 growth hormone receptor isoform 5 precursor

Status: REVIEWED

Description

Transcript Variant: This variant (12, also known as GHR1-277) lacks a coding exon in the 3' region, compared to variant 1. The resulting isoform (5) has a shorter and distinct C-terminus, compared to isoform 1.

Source sequence(s)

AC113368, X06562

UniProtKB/Swiss-Prot

P10912

Related

ENSP00000348621, ENST00000356276

Conserved Domains (2) summary

cd00063
Location:149 – 250
Blast Score: 115

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 ...

cl12153
Location:49 – 127
Blast Score: 146

EpoR_lig-bind; Erythropoietin receptor, ligand binding

RefSeqs of Annotated Genomes: Build 37.3

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

Reference GRCh37.p5 Primary Assembly

Genomic

NC_000005.9 Reference GRCh37.p5 Primary Assembly

Range

42423877..42721980

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Alternate HuRef

Genomic

AC_000137.1 Alternate HuRef

Range

42375464..42673429

Download

GenBank, FASTA, Sequence Viewer (Graphics)

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Related Sequences

Nucleotide		Protein
Heading	Accession and Version	Protein
genomic	AC093225.2 (43023..112695)	None
genomic	AC113368.3 (15272..88585)	None
genomic	AC114941.2 (12224..159280)	None
genomic	AC116343.2 (141135..149194)	None
genomic	AF155912.1	AAF71399.1
genomic	AF210633.1	None
genomic	AF322014.1	None
genomic	AF322015.1	None
genomic	AJ009889.1	None
genomic	AJ131868.1	None
genomic	AJ278681.1	CAC06613.1
genomic	AJ295613.1	CAC06615.1
genomic	AJ422105.1	None
genomic	CH471119.1	EAW56023.1
genomic	CQ832616.1	CAH05763.1
genomic	CS482307.1	CAM36317.1
genomic	HC250959.1	CBJ05777.1
genomic	HC311148.1	CBJ21229.1
genomic	HM761441.1	None
genomic	M28458.1	AAA52555.1
genomic	M28459.1	AAA52555.1
genomic	M28460.1	AAA52555.1
genomic	M28461.1	AAA52555.1
genomic	M28462.1	AAA52555.1
genomic	M28463.1	AAA52555.1
genomic	M28464.1	AAA52555.1
genomic	M28465.1	AAA52555.1
genomic	M28466.1	AAA52555.1
genomic	M28467.1	None
mRNA	AF230800.1	None
mRNA	AF230801.1	None
mRNA	BC136496.1	AAI36497.1
mRNA	BM719293.1	None
mRNA	BU625645.1	None
mRNA	S97393.1	AAD15015.1
mRNA	X06562.1	CAA29808.1
mRNA	Z11801.1	CAA77845.1
mRNA	Z11802.1	CAA77846.1
mRNA	Z11848.1	CAA77872.1
mRNA	Z11849.1	CAA77873.1
mRNA	Z11850.1	CAA77874.1
mRNA	Z11851.1	CAA77875.1
mRNA	Z11853.1	CAA77877.1

Protein Accession	Links
Protein Accession	GenPept Link	UniProtKB Link
P10912.1	GenPept	UniProtKB/Swiss-Prot:P10912
Q32ZL1	GenPept	UniProtKB/TrEMBL:Q32ZL1
Q9HCW9	GenPept	UniProtKB/TrEMBL:Q9HCW9
Q9NRZ8	GenPept	UniProtKB/TrEMBL:Q9NRZ8