GH1 (growth hormone 1)

2003-02-01  

Identity

HGNC
GH1
LOCATION
17q23.3
LOCUSID
2688
ALIAS
GH,GH-N,GHB5,GHN,IGHD1A,IGHD1B,IGHD2,hGH-N
FUSION GENES
Show Gene Fusions

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
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

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
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
pituitary gland
nasopharynx
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

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/css/css/lib/dataTables.bootstrap.min.css