SOMA_HUMAN
Source:
PM19886704
PM23856902
Marked as 'Non-membrane protein'
Confidence:
low (only semi-automatic identification from reviews)
Search PubMed for
(RBC AND this entry)
Gene names:
GH1
Protein names and data:
SOMA_HUMAN
, Somatotropin
, Growth hormone; GH; GH-N; Growth hormone 1; Pituitary growth hormone; Flags: Precursor
Lenght: 217 a.a.
Mass: 24847 Da
fasta formatted sequence
Function:
Plays an important role in growth control. Its major role in stimulating body growth is to stimulate the liver and other tissues to secrete IGF-1. It stimulates both the differentiation and proliferation of myoblasts. It also stimulates amino acid uptake and protein synthesis in muscle and other tissues.
Disease:
( OMIM:
139250
173100
262400
262650
612781
)
Growth hormone deficiency, isolated, 1A (IGHD1A) [MIM:262400]: An autosomal recessive, severe deficiency of growth hormone leading to dwarfism. Patients often develop antibodies to administered growth hormone. Note=The disease is caused by mutations affecting the gene represented in this entry. Growth hormone deficiency, isolated, 1B (IGHD1B) [MIM:612781]: An autosomal recessive deficiency of growth hormone leading to short stature. Patients have low but detectable levels of growth hormone, significantly retarded bone age, and a positive response and immunologic tolerance to growth hormone therapy. Note=The disease is caused by mutations affecting the gene represented in this entry. Kowarski syndrome (KWKS) [MIM:262650]: A syndrome clinically characterized by short stature associated with bioinactive growth hormone, normal or slightly increased growth hormone secretion, pathologically low insulin-like growth factor 1 levels, and normal catch-up growth on growth hormone replacement therapy. Note=The disease is caused by mutations affecting the gene represented in this entry. Growth hormone deficiency, isolated, 2 (IGHD2) [MIM:173100]: An autosomal dominant deficiency of growth hormone leading to short stature. Clinical severity is variable. Patients have a positive response and immunologic tolerance to growth hormone therapy. Note=The disease is caused by mutations affecting the gene represented in this entry.
Cellular location:
Secreted.
Genetic variants
3 - 3
T -> A (in IGHD1B; could be a neutral polymorphism; dbSNP:rs2001345). VAR_011917
2001345
16 - 16
L -> P (in IGHD1B; suppresses secretion). VAR_015801
37 - 37
D -> N (in IGHD1B). VAR_015802
42 - 42
R -> C (in IGHD1B; reduced secretion). VAR_015803
53 - 53
T -> I (in IGHD1B; reduced ability to activate the JAK/STAT pathway). VAR_015804
67 - 67
K -> R (in IGHD1B; reduced ability to activate the JAK/STAT pathway). VAR_015805
73 - 73
N -> D (in IGHD1B; reduced ability to activate the JAK/STAT pathway). VAR_015806
79 - 79
C -> S (in short stature; idiopathic autosomal; affects binding affinity of GH for GHR and the potency of GH to activate the JAK2/STAT5 signaling pathway). VAR_032702
97 - 97
S -> F (in IGHD1B; reduced ability to activate the JAK/STAT pathway). VAR_015807
100 - 100
E -> K (in IGHD1B). VAR_015808
103 - 103
R -> C (in KWKS; loss of activity; no difference in the binding affinity or bioactivity between wild-type and mutant; no difference found in the extent of subcellular localization within endoplasmic reticulum Golgi or secretory vesicles between wild-type and mutant; reduced capability of the mutant to induce GHR/GHBP gene transcription rate when compared to wild-type). VAR_015809
105 - 105
S -> C (in dbSNP:rs6174). VAR_011918
6174
117 - 117
Q -> L (in IGHD1B; reduced secretion). VAR_015810
134 - 134
S -> C (in IGHD1B). VAR_015811
134 - 134
S -> R (in IGHD1B; reduced ability to activate the JAK/STAT pathway). VAR_015812
136 - 136
V -> I (in dbSNP:rs5388). VAR_011919
5388
138 - 138
D -> G (in KWKS; loss of activity). VAR_015813
201 - 201
T -> A (in IGHD1B; reduced ability to activate the JAK/STAT pathway). VAR_015814
205 - 205
I -> M (in short stature; idiopathic autosomal). VAR_032703
209 - 209
R -> H (in IGHD2). VAR_015815
Database cross-references
UniProt:
P01241
Ensembl:
ENST00000323322
Ensembl:
ENST00000351388
Ensembl:
ENST00000458650
MIM:
139250
MIM:
173100
MIM:
262400
MIM:
262650
MIM:
612781
neXtProt:
NX_P01241
Antibodypedia:
P01241
(may not find the protein thus also not any antibody)
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