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FLASH GENE

Symbol

GH1

contributors: mct - updated : 25-04-2012

HGNC name	growth hormone 1
HGNC id	4261

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Corresponding disease	IGHD1 pituitary dwarfism 1 IGHD2 pituitary dwarfism 2
Location	17q23.3      Physical location : 61.994.563 - 61.996.198
Synonym name	growth hormone 1 (N variant)
	somatotropin
Synonym symbol(s)	GHN, GHV, GH-1, IGHD1B, hGH-N

DNA

TYPE	functioning gene
SPECIAL FEATURE	component of a cluster
STRUCTURE	1.64 kb     5 Exon(s)

10 Kb 5' upstream gene genomic sequence study

regulatory sequence	Promoter
	Binding site   HRE
motif	repetitive sequence   other
text structure	15 SNP in the proximal promoter region and three in the upstream site of the locus control region
	vitamin D-responsive element in the promoter

MAPPING

cloned

Y

linked

Y

status

confirmed

Map	cen - GH1 - CSHL1 - CSH1 - GH2 - CSH2 - qter
Authors	Phillips (83)

RNA

TRANSCRIPTS	type	messenger

text	three alternatively spliced isoform GHN1 (22kDa), GHN2 (20kDa), GH variant (66kDa)

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_000515 5 - 820 NP_000506 22 217 - 1996 8855247 GHN1 full length NM_022559 5 splicing 777 NP_072053 20 202 - 1996 8855247 GHN2 lacking part of exon 3 NM_022560 4 splicing 702 NP_072054 - 177 - 1996 8855247 missing exon 3 NM_022561 3 - 537 NP_072055 - 122 - 1996 8855247 missing exons 3,4 NM_022562 2 - 376 NP_072056 - 30 - 1996 8855247 missing exons 2,3,4 frameshift

EXPRESSION

Type	restricted

constitutive of

expressed in	(based on citations)
organ(s)	System Organ level 1 Organ level 2 Organ level 3 Organ level 4 Level Pubmed Species Stage Rna symbol Digestive intestine large intestine colon   highly Endocrine neuroendocrine pituitary     highly Hearing/Equilibrium ear       highly Nervous brain         Reproductive female system placenta     highly

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Epithelial secretory glandular endocrine

cells

System Cell Pubmed Species Stage Rna symbol Lymphoid/Immune lymphocyte

cell lineage
cell lines
fluid/secretion	released from the anterior pituitary in a pulsatile and circadian manner

at STAGE

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains

HOMOLOGY

Homologene

FAMILY

somatotropin/prolactin family

CATEGORY

signaling hormone

SUBCELLULAR LOCALIZATION

extracellular

basic FUNCTION	growth hormone 1 (N variants), anabolic and lipolytic
	stimulating both the differentiation and proliferation of myoblasts, amino acid uptake and protein synthesis in muscle and other tissues
	exerts metabolic effects both directly and through stimulation of IGF1, insulin, and free fatty acids (FFA)
	increases expression of ZEB2 in the glomerular podocyte and also decreases CDH1 expression in these cells
	GH1/IGF1 is likely to play an important role in the regulation of tendon and muscle collagen
	induces the activity of RELA (an important member of the NFKB family of transcription factors) in growth plate chondrocytes
	potent stimulator of longitudinal bone growth
	stimulates RELA nuclear translocation and DNA binding in growth plate chondrocytes
	FGF21 and GH1 are metabolic hormones that play important roles in regulating glucose and lipid metabolism
	GH1/IGF-1 axis is the key regulator of somatic growth

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

development

text

growth

PATHWAY

metabolism

signaling

hormonal

a component

INTERACTION

DNA

RNA

small molecule

protein	Ghrelin is the strongest GH1 secretagogue and may be a key regulator of GH1 peak amplitude
	may promote growth plate chondrocyte function by activating both IGF1 and BMP2 activity

cell & other

REGULATION

inhibited by

GH signaling inhibited by estrigen through SOCS2 médiation

ASSOCIATED DISORDERS

corresponding disease(s)

IGHD1 , IGHD2

Susceptibility

to hypertension and strocke to IGHD (isolated GH deficiency) to tall stature

Variant & Polymorphism other	core promoter haplotype(CH7, CH9, CH10, CH11)increasing the risk of hypertension and strocke
	57GT polymorphism contributes to IGHD susceptibility

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS