GH1 (growth hormone 1)

2003-02-01  

Identity

HGNC
LOCATION
17q23.3
LOCUSID
ALIAS
GH,GH-N,GHB5,GHN,IGHD1A,IGHD1B,IGHD2,hGH-N
FUSION GENES

Other Information

Locus ID:

NCBI: 2688
MIM: 139250
HGNC: 4261
Ensembl: ENSG00000259384

Variants:

dbSNP: 2688
ClinVar: 2688
TCGA: ENSG00000259384
COSMIC: GH1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000259384ENST00000323322P01241
ENSG00000259384ENST00000323322B1A4G6
ENSG00000259384ENST00000342364B1A4G9
ENSG00000259384ENST00000351388P01241
ENSG00000259384ENST00000458650P01241
ENSG00000259384ENST00000458650B1A4G7
ENSG00000259384ENST00000617086B1A4H0

Expression (GTEx)

0
10000
20000
30000
40000
50000
60000

Pathways

PathwaySourceExternal ID
Cytokine-cytokine receptor interactionKEGGko04060
Neuroactive ligand-receptor interactionKEGGko04080
Jak-STAT signaling pathwayKEGGko04630
Cytokine-cytokine receptor interactionKEGGhsa04060
Neuroactive ligand-receptor interactionKEGGhsa04080
Jak-STAT signaling pathwayKEGGhsa04630
PI3K-Akt signaling pathwayKEGGhsa04151
PI3K-Akt signaling pathwayKEGGko04151
Metabolism of proteinsREACTOMER-HSA-392499
Peptide hormone metabolismREACTOMER-HSA-2980736
Synthesis, secretion, and deacylation of GhrelinREACTOMER-HSA-422085
Immune SystemREACTOMER-HSA-168256
Cytokine Signaling in Immune systemREACTOMER-HSA-1280215
Growth hormone receptor signalingREACTOMER-HSA-982772
Prolactin receptor signalingREACTOMER-HSA-1170546

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
373155422024Phenotype-Genotype Correlations of GH1 Gene Variants in Patients with Isolated Growth Hormone Deficiency or Multiple Pituitary Hormone Deficiency.2
378164782024Low growth hormone secretion associated with post-acute sequelae SARS-CoV-2 infection (PASC) neurologic symptoms: A case-control pilot study.2
378723462024Growth hormone and testosterone delay vertebral fractures in boys with muscular dystrophy on chronic glucocorticoids.1
378777672024Autocrine/paracrine growth hormone in cancer progression.0
379360072024Brain white matter alterations in young adult male patients with childhood-onset growth hormone deficiency: a diffusion tensor imaging study.0
379620502024Growth Hormone, Atherosclerosis and Peripheral Arterial Disease: Exploring the Spectrum from Acromegaly to Growth Hormone Deficiency.0
373155422024Phenotype-Genotype Correlations of GH1 Gene Variants in Patients with Isolated Growth Hormone Deficiency or Multiple Pituitary Hormone Deficiency.2
378164782024Low growth hormone secretion associated with post-acute sequelae SARS-CoV-2 infection (PASC) neurologic symptoms: A case-control pilot study.2
378723462024Growth hormone and testosterone delay vertebral fractures in boys with muscular dystrophy on chronic glucocorticoids.1
378777672024Autocrine/paracrine growth hormone in cancer progression.0
379360072024Brain white matter alterations in young adult male patients with childhood-onset growth hormone deficiency: a diffusion tensor imaging study.0
379620502024Growth Hormone, Atherosclerosis and Peripheral Arterial Disease: Exploring the Spectrum from Acromegaly to Growth Hormone Deficiency.0
363271472023Understanding the role of growth hormone in situations of metabolic stress.6
365247232023The physiology of growth hormone (GH) in adults: translational journey to GH replacement therapy.2
368774532023Autonomous growth hormone secretion due to McCune Albright syndrome in paediatric age group: an ominous triad.0

Citation

Dessen P

GH1 (growth hormone 1)

Atlas Genet Cytogenet Oncol Haematol. 2003-02-01

Online version: http://atlasgeneticsoncology.org/gene/40711/haematological-explorer/gene-fusions/img/logo-atlas-4.svg