Format

Send to:

Choose Destination

GHR growth hormone receptor [ Homo sapiens (human) ]

Gene ID: 2690, updated on 5-Aug-2018

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; 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; 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

Genomic context

See GHR in Genome Data Viewer
Location:
5p13.1-p12
Exon count:
18
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 5 NC_000005.10 (42423775..42721878)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 5 NC_000005.9 (42423577..42721980)

Chromosome 5 - NC_000005.10Genomic Context describing neighboring genes Neighboring gene F-box protein 4 Neighboring gene methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 2, methenyltetrahydrofolate cyclohydrolase pseudogene 6 Neighboring gene uncharacterized LOC101926960 Neighboring gene GHR upstream promoter region module A Neighboring gene zinc finger protein 35 pseudogene Neighboring gene SERPINE1 mRNA binding protein 1 pseudogene 6 Neighboring gene GHR downstream promoter region module B Neighboring gene coiled-coil domain containing 152 Neighboring gene selenoprotein P Neighboring gene peptidylprolyl isomerase A pseudogene 77

Genomic regions, transcripts, and products

Expression

  • 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 Jun 15 11:32:44 2016

Bibliography

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
Familial hypercholesterolemia
MedGen: C0020445 OMIM: 143890 GeneReviews: Familial Hypercholesterolemia
Compare labs
Laron-type isolated somatotropin defect
MedGen: C0271568 OMIM: 262500 GeneReviews: Not available
Compare labs
Short stature, idiopathic, autosomal
MedGen: C1858656 GeneReviews: Not available
Compare labs

NHGRI GWAS Catalog

Description
Association of systemic lupus erythematosus with C8orf13-BLK and ITGAM-ITGAX.
NHGRI GWA Catalog
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.
NHGRI GWA Catalog
Meta-analysis of genome-wide association studies of adult height in East Asians identifies 17 novel loci.
NHGRI GWA Catalog
Parent-of-origin-specific allelic associations among 106 genomic loci for age at menarche.
NHGRI GWA Catalog
Variants in TF and HFE explain approximately 40% of genetic variation in serum-transferrin levels.
NHGRI GWA Catalog

Pathways from BioSystems

  • Cytokine Signaling in Immune system, organism-specific biosystem (from REACTOME)
    Cytokine Signaling in Immune system, organism-specific biosystemCytokines are small proteins that regulate and mediate immunity, inflammation, and hematopoiesis. They are secreted in response to immune stimuli, and usually act briefly, locally, at very low concen...
  • Cytokine-cytokine receptor interaction, organism-specific biosystem (from KEGG)
    Cytokine-cytokine receptor interaction, organism-specific biosystemCytokines are soluble extracellular proteins or glycoproteins that are crucial intercellular regulators and mobilizers of cells engaged in innate as well as adaptive inflammatory host defenses, cell ...
  • Cytokine-cytokine receptor interaction, conserved biosystem (from KEGG)
    Cytokine-cytokine receptor interaction, conserved biosystemCytokines are soluble extracellular proteins or glycoproteins that are crucial intercellular regulators and mobilizers of cells engaged in innate as well as adaptive inflammatory host defenses, cell ...
  • Endochondral Ossification, organism-specific biosystem (from WikiPathways)
    Endochondral Ossification, organism-specific biosystemEndochondral ossification is the process by which the embryonic cartilaginous model of most bones contributes to longitudinal growth and is gradually replaced by bone. During endochondral ossificatio...
  • Growth hormone receptor signaling, organism-specific biosystem (from REACTOME)
    Growth hormone receptor signaling, organism-specific biosystemGrowth hormone (Somatotropin or GH) is a key factor in determining lean body mass, stimulating the growth and metabolism of muscle, bone and cartilage cells, while reducing body fat. It has many othe...
  • Immune System, organism-specific biosystem (from REACTOME)
    Immune System, organism-specific biosystemHumans are exposed to millions of potential pathogens daily, through contact, ingestion, and inhalation. Our ability to avoid infection depends on the adaptive immune system and during the first crit...
  • Jak-STAT signaling pathway, organism-specific biosystem (from KEGG)
    Jak-STAT signaling pathway, organism-specific biosystemThe Janus kinase/signal transducers and activators of transcription (JAK/STAT) pathway is one of a handful of pleiotropic cascades used to transduce a multitude of signals for development and homeost...
  • Jak-STAT signaling pathway, conserved biosystem (from KEGG)
    Jak-STAT signaling pathway, conserved biosystemThe Janus kinase/signal transducers and activators of transcription (JAK/STAT) pathway is one of a handful of pleiotropic cascades used to transduce a multitude of signals for development and homeost...
  • Neuroactive ligand-receptor interaction, organism-specific biosystem (from KEGG)
    Neuroactive ligand-receptor interaction, organism-specific biosystem
    Neuroactive ligand-receptor interaction
  • Neuroactive ligand-receptor interaction, conserved biosystem (from KEGG)
    Neuroactive ligand-receptor interaction, conserved biosystem
    Neuroactive ligand-receptor interaction
  • Notch-mediated HES/HEY network, organism-specific biosystem (from Pathway Interaction Database)
    Notch-mediated HES/HEY network, organism-specific biosystem
    Notch-mediated HES/HEY network
  • PI3K-Akt signaling pathway, organism-specific biosystem (from KEGG)
    PI3K-Akt signaling pathway, organism-specific biosystemThe phosphatidylinositol 3' -kinase(PI3K)-Akt signaling pathway is activated by many types of cellular stimuli or toxic insults and regulates fundamental cellular functions such as transcription, tra...
  • PI3K-Akt signaling pathway, conserved biosystem (from KEGG)
    PI3K-Akt signaling pathway, conserved biosystemThe phosphatidylinositol 3' -kinase(PI3K)-Akt signaling pathway is activated by many types of cellular stimuli or toxic insults and regulates fundamental cellular functions such as transcription, tra...
  • Prolactin receptor signaling, organism-specific biosystem (from REACTOME)
    Prolactin receptor signaling, organism-specific biosystemProlactin (PRL) is a hormone secreted mainly by the anterior pituitary gland. It was originally identified by its ability to stimulate the development of the mammary gland and lactation, but is now k...

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
cytokine binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cytokine receptor activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cytokine receptor activity IEA
Inferred from Electronic Annotation
more info
 
growth factor binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
growth hormone receptor activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
identical protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
peptide hormone binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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
 
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 Janus 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
 
cellular response to hormone stimulus IMP
Inferred from Mutant Phenotype
more info
PubMed 
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
 
cytokine-mediated signaling pathway IEA
Inferred from Electronic Annotation
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 IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
growth hormone receptor signaling pathway IMP
Inferred from Mutant Phenotype
more info
PubMed 
hormone metabolic process IMP
Inferred from Mutant Phenotype
more info
PubMed 
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
 
oxaloacetate metabolic process ISS
Inferred from Sequence or Structural Similarity
more info
 
positive regulation of JAK-STAT cascade IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
positive regulation of multicellular organism growth IMP
Inferred from Mutant Phenotype
more info
PubMed 
positive regulation of peptidyl-tyrosine phosphorylation IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
positive regulation of peptidyl-tyrosine phosphorylation ISS
Inferred from Sequence or Structural Similarity
more info
 
positive regulation of tyrosine phosphorylation of STAT protein ISS
Inferred from Sequence or Structural Similarity
more info
PubMed 
regulation of multicellular organism growth ISS
Inferred from Sequence or Structural Similarity
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 
cytoplasmic ribonucleoprotein granule IDA
Inferred from Direct Assay
more info
 
cytosol IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cytosol IDA
Inferred from Direct Assay
more info
 
external side of plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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 
growth hormone receptor complex IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
growth hormone receptor complex IDA
Inferred from Direct Assay
more info
PubMed 
integral component of membrane IDA
Inferred from Direct Assay
more info
PubMed 
integral component of plasma membrane IDA
Inferred from Direct Assay
more info
PubMed 
plasma membrane IDA
Inferred from Direct Assay
more info
 
plasma membrane TAS
Traceable Author Statement
more info
 
receptor complex IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
receptor complex IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

Preferred Names
growth hormone receptor
Names
GH receptor
growth hormone binding protein
serum binding protein
somatotropin receptor

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

  1. NG_011688.1 RefSeqGene

    Range
    4852..302955
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_000163.4NP_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
    Related
    ENSP00000230882.4, OTTHUMP00000120020, ENST00000230882.8, OTTHUMT00000211605
    Conserved Domains (3) summary
    cd00063
    Location:149250
    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:316617
    GHBP; Growth hormone receptor binding
    cl21522
    Location:49127
    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 ...
  2. NM_001242399.2NP_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/Swiss-Prot
    P10912
    UniProtKB/TrEMBL
    A0A087X0H5
    Related
    ENSP00000483403.1, ENST00000620156.4
    Conserved Domains (3) summary
    cd00063
    Location:156257
    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:323624
    GHBP; Growth hormone receptor binding
    cl21522
    Location:56134
    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 ...
  3. NM_001242400.2NP_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
    Related
    ENSP00000478291.1, ENST00000615111.4
    Conserved Domains (3) summary
    cd00063
    Location:149250
    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:316617
    GHBP; Growth hormone receptor binding
    cl21522
    Location:49127
    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 ...
  4. NM_001242401.3NP_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, X06562, Z11851
    Consensus CDS
    CCDS3940.1
    UniProtKB/Swiss-Prot
    P10912
    Conserved Domains (3) summary
    cd00063
    Location:149250
    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:316617
    GHBP; Growth hormone receptor binding
    cl21522
    Location:49127
    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 ...
  5. NM_001242402.2NP_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
    Related
    ENSP00000482373.1, ENST00000618088.4
    Conserved Domains (3) summary
    cd00063
    Location:149250
    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:316617
    GHBP; Growth hormone receptor binding
    cl21522
    Location:49127
    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 ...
  6. NM_001242403.2NP_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
    Related
    ENSP00000478332.1, ENST00000612382.4
    Conserved Domains (3) summary
    cd00063
    Location:149250
    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:316617
    GHBP; Growth hormone receptor binding
    cl21522
    Location:49127
    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 ...
  7. NM_001242404.2NP_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
    Related
    ENSP00000479846.1, ENST00000612626.4
    Conserved Domains (3) summary
    cd00063
    Location:149250
    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:316617
    GHBP; Growth hormone receptor binding
    cl21522
    Location:49127
    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 ...
  8. NM_001242405.2NP_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
    Related
    ENSP00000442206.2, ENST00000537449.5
    Conserved Domains (3) summary
    cd00063
    Location:149250
    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:316617
    GHBP; Growth hormone receptor binding
    cl21522
    Location:49127
    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 ...
  9. NM_001242406.2NP_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
    Conserved Domains (3) summary
    cd00063
    Location:149250
    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:316617
    GHBP; Growth hormone receptor binding
    cl21522
    Location:49127
    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 ...
  10. NM_001242460.1NP_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
    ENSP00000350335.3, ENST00000357703.6
    Conserved Domains (3) summary
    cd00063
    Location:127228
    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:294595
    GHBP; Growth hormone receptor binding
    cl21522
    Location:27105
    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 ...
  11. NM_001242462.1NP_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/Swiss-Prot
    P10912
    UniProtKB/TrEMBL
    A0A087X162
    Related
    ENSP00000483926.1, ENST00000622294.2
    Conserved Domains (2) summary
    cd00063
    Location:149250
    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:49127
    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: Homo sapiens Annotation Release 109 details...Open this link in a new tab

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000005.10 Reference GRCh38.p12 Primary Assembly

    Range
    42423775..42721878
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

  1. 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.
Support Center