GHR growth hormone receptor [Homo sapiens (human)] - Gene

Summary

Official Symbol: GHRprovided by HGNC
Official Full Name: growth hormone receptorprovided by HGNC
Primary source: HGNC:HGNC:4263
See related: Ensembl:ENSG00000112964 MIM:600946; AllianceGenome:HGNC:4263
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; GHIP
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]
Expression: Biased expression in fat (RPKM 43.6), liver (RPKM 35.0) and 7 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 5p13.1-p12

Exon count:: 18

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	5	NC_000005.10 (42423439..42721878)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	5	NC_060929.1 (42678916..42974806)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	5	NC_000005.9 (42423541..42721980)

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 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?

CRISPR-Cas9 mediated d3GHR knockout in HEK293 cells: Revealing the longevity associated isoform stress resilience.
Title: CRISPR-Cas9 mediated d3GHR knockout in HEK293 cells: Revealing the longevity associated isoform stress resilience.
Conditional gene regulation models demonstrate a pro-proliferative role for growth hormone receptor in prostate cancer.
Title: Conditional gene regulation models demonstrate a pro-proliferative role for growth hormone receptor in prostate cancer.
Associations of GHR, IGF-1 and IGFBP-3 expression in adipose tissue cells with obesity-related alterations in corresponding circulating levels and adipose tissue function in children.
Title: Associations of GHR, IGF-1 and IGFBP-3 expression in adipose tissue cells with obesity-related alterations in corresponding circulating levels and adipose tissue function in children.
Correlation Study between Levels of Gastrin, Serum IGF-1, and GHBP and Growth and Development in Children with Short Stature Based on Big Data Analysis.
Title: Correlation Study between Levels of Gastrin, Serum IGF-1, and GHBP and Growth and Development in Children with Short Stature Based on Big Data Analysis.
Genetic effect of single nucleotide polymorphisms in growth hormone receptor gene on the risk of non-syndromic mandibular prognathism in the Korean population.
Title: Genetic effect of single nucleotide polymorphisms in growth hormone receptor gene on the risk of non-syndromic mandibular prognathism in the Korean population.
Expression of IGF-1 receptor and GH receptor in hepatic tissue of patients with nonalcoholic fatty liver disease and nonalcoholic steatohepatitis.
Title: Expression of IGF-1 receptor and GH receptor in hepatic tissue of patients with nonalcoholic fatty liver disease and nonalcoholic steatohepatitis.
Mild phenotype in two siblings with a missense GHR variant.
Title: Mild phenotype in two siblings with a missense GHR variant.
Growth hormone receptor polymorphisms and growth hormone response to stimulation test: a pilot study.
Title: Growth hormone receptor polymorphisms and growth hormone response to stimulation test: a pilot study.
Alpha-mannosidosis in Tunisian consanguineous families: Potential involvement of variants in GHR and SLC19A3 genes in the variable expressivity of cognitive impairment.
Title: Alpha-mannosidosis in Tunisian consanguineous families: Potential involvement of variants in GHR and SLC19A3 genes in the variable expressivity of cognitive impairment.
A common deletion in the growth hormone receptor gene (d3-GHR) in the offspring is related to maternal placental GH levels during pregnancy.
Title: A common deletion in the growth hormone receptor gene (d3-GHR) in the offspring is related to maternal placental GH levels during pregnancy.

Submit: New GeneRIF Correction See all GeneRIFs (223)

Phenotypes

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Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Hypercholesterolemia, familial, 1 MedGen: C0745103 OMIM: 143890 GeneReviews: Familial Hypercholesterolemia	not available
Laron-type isolated somatotropin defect MedGen: C0271568 OMIM: 262500 GeneReviews: Not available	not available
Short stature due to partial GHR deficiency MedGen: C1858656 OMIM: 604271 GeneReviews: Not available	not available

EBI GWAS Catalog

Description
Association of systemic lupus erythematosus with C8orf13-BLK and ITGAM-ITGAX. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genetic association with overall survival of taxane-treated lung cancer patients - A genome-wide association study in human lymphoblastoid cell lines followed by a clinical association study. EBI GWAS Catalog EBI GWAS CatalogPubMed
Meta-analysis of genome-wide association studies of adult height in East Asians identifies 17 novel loci. EBI GWAS Catalog EBI GWAS CatalogPubMed
Parent-of-origin-specific allelic associations among 106 genomic loci for age at menarche. EBI GWAS Catalog EBI GWAS CatalogPubMed
Variants in TF and HFE explain approximately 40% of genetic variation in serum-transferrin levels. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See Variation Viewer (GRCh37.p13)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

G15875 (e-PCR)
- UniSTS:61954

D5S1587E (e-PCR)
- UniSTS:41733

human.GHR (e-PCR)
- UniSTS:181771

RH75947 (e-PCR)
- UniSTS:92696

RH124010 (e-PCR)
- UniSTS:136220

GHR_332 (e-PCR)
- UniSTS:277280

D18S21 (e-PCR)
- UniSTS:148514

L28287 (e-PCR)
- UniSTS:3905

RH120597 (e-PCR)
- UniSTS:132430

RH103550 (e-PCR)
- UniSTS:97875

G59264 (e-PCR)
- UniSTS:136579

STS-X06562 (e-PCR)
- UniSTS:49544

G63224 (e-PCR)
- UniSTS:140196

SHGC-110510 (e-PCR)
- UniSTS:167871

SHGC-14459 (e-PCR)
- UniSTS:19963

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables SH2 domain binding	IEA Inferred from Electronic Annotation more info
enables cytokine binding	IBA Inferred from Biological aspect of Ancestor more info
enables growth factor binding	IPI Inferred from Physical Interaction more info	PubMed
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 identical protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables lipid binding	EXP Inferred from Experiment more info	PubMed
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 proline-rich region binding	ISS Inferred from Sequence or Structural Similarity more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein homodimerization activity	IDA Inferred from Direct Assay more info	PubMed
enables protein kinase binding	ISS Inferred from Sequence or Structural Similarity more info
enables protein phosphatase binding	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
involved_in cartilage development involved in endochondral bone morphogenesis	IEA Inferred from Electronic Annotation more info
involved_in cell surface receptor signaling pathway via JAK-STAT	ISS Inferred from Sequence or Structural Similarity more info
involved_in cellular response to hormone stimulus	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in cellular response to insulin 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 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	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in hormone metabolic process	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in hormone-mediated signaling pathway	IEA Inferred from Electronic Annotation more info
involved_in insulin-like growth factor receptor signaling pathway	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of positive regulation of MAP kinase activity	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of cell differentiation	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 multicellular organism growth	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of receptor signaling pathway via JAK-STAT	IBA Inferred from Biological aspect of Ancestor more info
NOT involved_in receptor internalization	IDA Inferred from Direct Assay more info	PubMed
involved_in receptor internalization	IDA Inferred from Direct Assay more info	PubMed
involved_in regulation of multicellular organism growth	ISS Inferred from Sequence or Structural Similarity more info
involved_in regulation of response to nutrient levels	IEA Inferred from Electronic Annotation more info
NOT involved_in response to cycloheximide	IDA Inferred from Direct Assay more info	PubMed
involved_in response to cycloheximide	IDA Inferred from Direct Assay more info	PubMed
involved_in response to estradiol	IDA Inferred from Direct Assay more info	PubMed
involved_in response to food	IEA Inferred from Electronic Annotation more info
involved_in response to glucocorticoid	IEA Inferred from Electronic Annotation more info
involved_in response to gravity	IEA Inferred from Electronic Annotation more info
involved_in response to interleukin-1	IEA Inferred from Electronic Annotation more info
acts_upstream_of_positive_effect taurine metabolic process	ISS Inferred from Sequence or Structural Similarity more info

Component	Evidence Code	Pubs
located_in cell surface	IDA Inferred from Direct Assay more info	PubMed
located_in cytoplasmic ribonucleoprotein granule	IDA Inferred from Direct Assay more info
is_active_in cytosol	IBA Inferred from Biological aspect of Ancestor more info
located_in cytosol	IDA Inferred from Direct Assay 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	IDA Inferred from Direct Assay more info	PubMed
located_in extracellular space	IMP Inferred from Mutant Phenotype more info	PubMed
part_of growth hormone receptor complex	IBA Inferred from Biological aspect of Ancestor more info
part_of growth hormone receptor complex	IDA Inferred from Direct Assay more info	PubMed
located_in membrane	IDA Inferred from Direct Assay more info	PubMed
located_in neuronal cell body	IEA Inferred from Electronic Annotation more info
is_active_in plasma membrane	IDA Inferred from Direct Assay more info	PubMed
located_in plasma membrane	IDA Inferred from Direct Assay more info	PubMed
located_in plasma membrane	TAS Traceable Author Statement more info
part_of receptor complex	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: growth hormone receptor

Names: GH receptor; growth hormone binding protein; mutant growth hormone receptor; serum binding protein; 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.

Genomic

NG_011688.2 RefSeqGene

Range

4516..302955

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_000163.5 → NP_000154.1 growth hormone receptor isoform 1 precursor

See identical proteins and their annotated locations for NP_000154.1

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, Q9HCX2

Related

ENSP00000230882.4, ENST00000230882.9

Conserved Domains (3) summary

cd00063
Location:149 → 250

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 → 617

GHBP; Growth hormone receptor binding

cl21522
Location:49 → 127

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_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

Consensus CDS

CCDS75239.1

UniProtKB/TrEMBL

A0A087X0H5

Related

ENSP00000483403.1, ENST00000620156.4

Conserved Domains (3) summary

cd00063
Location:156 → 257

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:323 → 624

GHBP; Growth hormone receptor binding

cl21522
Location:56 → 134

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_001242400.2 → NP_001229329.1 growth hormone receptor isoform 1 precursor

See identical proteins and their annotated locations for NP_001229329.1

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, Q9HCX2

Related

ENSP00000478291.1, ENST00000615111.4

Conserved Domains (3) summary

cd00063
Location:149 → 250

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 → 617

GHBP; Growth hormone receptor binding

cl21522
Location:49 → 127

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_001242401.4 → NP_001229330.1 growth hormone receptor isoform 1 precursor

See identical proteins and their annotated locations for NP_001229330.1

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, AC116343, X06562, Z11851

Consensus CDS

CCDS3940.1

UniProtKB/Swiss-Prot

P10912, Q9HCX2

Conserved Domains (3) summary

cd00063
Location:149 → 250

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 → 617

GHBP; Growth hormone receptor binding

cl21522
Location:49 → 127

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_001242402.2 → NP_001229331.1 growth hormone receptor isoform 1 precursor

See identical proteins and their annotated locations for NP_001229331.1

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, Q9HCX2

Related

ENSP00000482373.1, ENST00000618088.4

Conserved Domains (3) summary

cd00063
Location:149 → 250

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 → 617

GHBP; Growth hormone receptor binding

cl21522
Location:49 → 127

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_001242403.3 → NP_001229332.1 growth hormone receptor isoform 1 precursor

See identical proteins and their annotated locations for NP_001229332.1

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, Q9HCX2

Related

ENSP00000478332.1, ENST00000612382.4

Conserved Domains (3) summary

cd00063
Location:149 → 250

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 → 617

GHBP; Growth hormone receptor binding

cl21522
Location:49 → 127

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_001242404.2 → NP_001229333.1 growth hormone receptor isoform 1 precursor

See identical proteins and their annotated locations for NP_001229333.1

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, Q9HCX2

Related

ENSP00000479846.1, ENST00000612626.4

Conserved Domains (3) summary

cd00063
Location:149 → 250

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 → 617

GHBP; Growth hormone receptor binding

cl21522
Location:49 → 127

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_001242405.2 → NP_001229334.1 growth hormone receptor isoform 1 precursor

See identical proteins and their annotated locations for NP_001229334.1

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, Q9HCX2

Related

ENSP00000442206.2, ENST00000537449.5

Conserved Domains (3) summary

cd00063
Location:149 → 250

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 → 617

GHBP; Growth hormone receptor binding

cl21522
Location:49 → 127

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_001242406.2 → NP_001229335.1 growth hormone receptor isoform 1 precursor

See identical proteins and their annotated locations for NP_001229335.1

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, Q9HCX2

Conserved Domains (3) summary

cd00063
Location:149 → 250

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 → 617

GHBP; Growth hormone receptor binding

cl21522
Location:49 → 127

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_001242460.2 → 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, AC114941, AC116343

Consensus CDS

CCDS56364.1

UniProtKB/Swiss-Prot

P10912

Related

ENSP00000350335.3, ENST00000357703.6

Conserved Domains (3) summary

cd00063
Location:127 → 228

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:294 → 595

GHBP; Growth hormone receptor binding

cl21522
Location:27 → 105

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_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

Consensus CDS

CCDS75240.1

UniProtKB/TrEMBL

A0A087X162

Related

ENSP00000483926.1, ENST00000622294.2

Conserved Domains (2) summary

cd00063
Location:149 → 250

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 → 127

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_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_000005.10 Reference GRCh38.p14 Primary Assembly

Range

42423439..42721878

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

NC_060929.1 Alternate T2T-CHM13v2.0

Range

42678916..42974806

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

NM_001242461.1: Suppressed sequence

Description

NM_001242461.1: This RefSeq was permanently suppressed because currently there is support for the transcript but not for the protein.