GH1
entrez
2688
canonical
uniprot
P01241
canonical
ensembl
ENSG00000259384
resolver
ensp
ENSP00000312673
resolver
ensp
ENSP00000343791
resolver
ensp
ENSP00000408486
resolver
genesymbol
GH1
resolver
genesymbol
GHB5
resolver
hgnc
HGNC:4261
resolver
uniprot
A6NEF6
resolver
uniprot
B1A4G6
resolver
uniprot
B1A4G7
resolver
uniprot
Q14405
resolver
uniprot
Q16631
resolver
uniprot
Q5EB53
resolver
uniprot
Q9HBZ1
resolver
uniprot
Q9UMJ7
resolver
uniprot
Q9UNL5
resolver
uniprot_entry
B1A4G6_HUMAN
resolver
uniprot_entry
B1A4G7_HUMAN
resolver
uniprot_entry
SOMA_HUMAN
resolver
uniprot_sec
A6NEF6
resolver
uniprot_sec
Q14405
resolver
uniprot_sec
Q16631
resolver
uniprot_sec
Q5EB53
resolver
uniprot_sec
Q9HBZ1
resolver
uniprot_sec
Q9UMJ7
resolver
uniprot_sec
Q9UNL5
resolver
amino_acid_sequence
MATGSRTSLLLAFGLLCLPWLQEGSAFPTIPLSRLFDNAMLRAHRLHQLAFDTYQEFEEAYIPKEQKYSFLQNPQTSLCFSESIPTPSNREETQQKSNLELLRISLLLIQSWLEPVQFLRSVFANSLVYGASDSNVYDLLKDLEEGIQTLMGRLEDGSPRTGQIFKQTYSKFDTNSHNDDALLKNYGLLYCFRKDMDKVETFLRIVQCRSVEGSCGF
uniprot
proteins
disease_involvement
DISEASE: 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. {ECO:0000269|PubMed:8364549}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: 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. {ECO:0000269|PubMed:12655557}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: 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. {ECO:0000269|PubMed:17519310, ECO:0000269|PubMed:8552145, ECO:0000269|PubMed:9276733}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: 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. {ECO:0000269|PubMed:11502836, ECO:0000269|PubMed:9152628}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
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 IGF1. It stimulates both the differentiation and proliferation of myoblasts. It also stimulates amino acid uptake and protein synthesis in muscle and other tissues.
uniprot
proteins
mass_dalton
24847
uniprot
proteins
protein_family
Somatotropin/prolactin family
uniprot
proteins
pubmed
10391209
uniprot
proteins
pubmed
10393484
uniprot
proteins
pubmed
10931946
uniprot
proteins
pubmed
11502836
uniprot
proteins
pubmed
12655557
uniprot
proteins
pubmed
14997482
uniprot
proteins
pubmed
15001589
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
1549776
uniprot
proteins
pubmed
15713716
uniprot
proteins
pubmed
16625196
uniprot
proteins
pubmed
16807684
uniprot
proteins
pubmed
17519310
uniprot
proteins
pubmed
18473352
uniprot
proteins
pubmed
2744760
uniprot
proteins
pubmed
3447173
uniprot
proteins
pubmed
377496
uniprot
proteins
pubmed
386281
uniprot
proteins
pubmed
3912261
uniprot
proteins
pubmed
4675454
uniprot
proteins
pubmed
5144027
uniprot
proteins
pubmed
5279046
uniprot
proteins
pubmed
5279528
uniprot
proteins
pubmed
5810834
uniprot
proteins
pubmed
6269091
uniprot
proteins
pubmed
7028740
uniprot
proteins
pubmed
7169009
uniprot
proteins
pubmed
7356479
uniprot
proteins
pubmed
7462247
uniprot
proteins
pubmed
7984244
uniprot
proteins
pubmed
8364549
uniprot
proteins
pubmed
8552145
uniprot
proteins
pubmed
8943276
uniprot
proteins
pubmed
9152628
uniprot
proteins
pubmed
9276733
uniprot
proteins
sequence_length
217
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Secreted {ECO:0000269|PubMed:5279046, ECO:0000269|PubMed:5810834}.
uniprot
proteins