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    GHR growth hormone receptor [ Homo sapiens (human) ]

    Gene ID: 2690, updated on 2-Nov-2024

    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
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See GHR in Genome Data Viewer
    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_000005.10Genomic Context describing neighboring genes Neighboring gene MPRA-validated peak5238 silencer Neighboring gene F-box protein 4 Neighboring gene methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 2, methenyltetrahydrofolate cyclohydrolase pseudogene 6 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:42078724-42079249 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr5:42090075-42091274 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_85089 Neighboring gene long intergenic non-protein coding RNA 2996 Neighboring gene NANOG hESC enhancer GRCh37_chr5:42225166-42225693 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_85146 Neighboring gene NANOG hESC enhancer GRCh37_chr5:42288621-42289193 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_85179 Neighboring gene GHR upstream promoter region module A Neighboring gene zinc finger protein 35 pseudogene Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:42508817-42509317 Neighboring gene SERPINE1 mRNA binding protein 1 pseudogene 6 Neighboring gene GHR downstream promoter region module B Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:42756975-42757476 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:42757477-42757976 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:42803834-42804334 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:42804335-42804835 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr5:42812153-42812718 Neighboring gene uncharacterized LOC124900970 Neighboring gene coiled-coil domain containing 152 Neighboring gene selenoprotein P

    Genomic regions, transcripts, and products

    Expression

    • 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

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    Associated conditions

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

    EBI GWAS Catalog

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

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    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 peptidyl-tyrosine phosphorylation ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    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

    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)

    NEW Try the new Transcript table

    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_011688.2 RefSeqGene

      Range
      4516..302955
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_000163.5NP_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: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/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, Q9HCX2
      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_001242401.4NP_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: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, Q9HCX2
      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_001242403.3NP_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: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, Q9HCX2
      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, Q9HCX2
      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, Q9HCX2
      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_001242460.2NP_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: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/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: 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

    1. NC_000005.10 Reference GRCh38.p14 Primary Assembly

      Range
      42423439..42721878
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. 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

    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.