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UniProtKB - P01241 (SOMA_HUMAN)

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Protein

Somatotropin

Gene

GH1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -Experimental evidence at protein leveli

Functioni

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.

Miscellaneous

Circulating GH shows a great heterogeneity due to alternative splicing, differential post-translational modifications of monomeric forms, oligomerization, optional binding to 2 different GH-binding proteins, and potentially proteolytic processing.

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Metal bindingi44ZincBy similarity1
Metal bindingi200ZincBy similarity1

GO - Molecular functioni

  • growth factor activity Source: BHF-UCL
  • growth hormone receptor binding Source: MGI
  • hormone activity Source: UniProtKB-KW
  • metal ion binding Source: UniProtKB-KW
  • prolactin receptor binding Source: AgBase
View the complete GO annotation on QuickGO ...

GO - Biological processi

  • bone maturation Source: BHF-UCL
  • growth hormone receptor signaling pathway Source: BHF-UCL
  • JAK-STAT cascade involved in growth hormone signaling pathway Source: Reactome
  • positive regulation of activation of Janus kinase activity Source: BHF-UCL
  • positive regulation of glucose transmembrane transport Source: MGI
  • positive regulation of insulin-like growth factor receptor signaling pathway Source: BHF-UCL
  • positive regulation of JAK-STAT cascade Source: BHF-UCL
  • positive regulation of MAP kinase activity Source: BHF-UCL
  • positive regulation of multicellular organism growth Source: BHF-UCL
  • positive regulation of peptidyl-tyrosine phosphorylation Source: BHF-UCL
  • positive regulation of phosphatidylinositol 3-kinase signaling Source: BHF-UCL
  • positive regulation of tyrosine phosphorylation of STAT protein Source: BHF-UCL
  • response to estradiol Source: BHF-UCL
View the complete GO annotation on QuickGO ...

Keywordsi

Molecular functionHormone
LigandMetal-binding, Zinc

Enzyme and pathway databases

ReactomeiR-HSA-1170546 Prolactin receptor signaling
R-HSA-422085 Synthesis, secretion, and deacylation of Ghrelin
R-HSA-982772 Growth hormone receptor signaling
SABIO-RKiP01241
SignaLinkiP01241
SIGNORiP01241

Names & Taxonomyi

Protein namesi
Recommended name:
Somatotropin
Alternative name(s):
Growth hormone
Short name:
GH
Short name:
GH-N
Growth hormone 1
Pituitary growth hormone
Gene namesi
Name:GH1
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo
Proteomesi
  • UP000005640 Componenti: Chromosome 17

Organism-specific databases

EuPathDBiHostDB:ENSG00000259384.6
HGNCiHGNC:4261 GH1
MIMi139250 gene
neXtProtiNX_P01241

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Keywords - Cellular componenti

Secreted

Pathology & Biotechi

Involvement in diseasei

Growth hormone deficiency, isolated, 1A (IGHD1A)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionAn autosomal recessive, severe deficiency of growth hormone leading to dwarfism. Patients often develop antibodies to administered growth hormone.
See also OMIM:262400
Growth hormone deficiency, isolated, 1B (IGHD1B)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionAn 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.
See also OMIM:612781
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_01580116L → P in IGHD1B; suppresses secretion. 1 Publication1
Natural variantiVAR_01580237D → N in IGHD1B. 1 Publication1
Natural variantiVAR_01580342R → C in IGHD1B; reduced secretion. 1 PublicationCorresponds to variant dbSNP:rs71640273Ensembl.1
Natural variantiVAR_01580453T → I in IGHD1B; reduced ability to activate the JAK/STAT pathway. 1 Publication1
Natural variantiVAR_01580567K → R in IGHD1B; reduced ability to activate the JAK/STAT pathway. 1 Publication1
Natural variantiVAR_01580673N → D in IGHD1B; reduced ability to activate the JAK/STAT pathway. 1 PublicationCorresponds to variant dbSNP:rs71640276EnsemblClinVar.1
Natural variantiVAR_01580797S → F in IGHD1B; reduced ability to activate the JAK/STAT pathway. 1 Publication1
Natural variantiVAR_015808100E → K in IGHD1B. 1 Publication1
Natural variantiVAR_015810117Q → L in IGHD1B; reduced secretion. 1 Publication1
Natural variantiVAR_015811134S → C in IGHD1B. 1 Publication1
Natural variantiVAR_015812134S → R in IGHD1B; reduced ability to activate the JAK/STAT pathway. 1 Publication1
Natural variantiVAR_015814201T → A in IGHD1B; reduced ability to activate the JAK/STAT pathway. 1 Publication1
Kowarski syndrome (KWKS)3 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA 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.
See also OMIM:262650
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_015809103R → C in KWKS; no effect on GHR signaling pathway; does not affect interaction with GHR; results in a stronger interaction with GHBP; does not affect subcellular location. 2 PublicationsCorresponds to variant dbSNP:rs137853220EnsemblClinVar.1
Natural variantiVAR_015813138D → G in KWKS; loss of activity. 1 PublicationCorresponds to variant dbSNP:rs137853221EnsemblClinVar.1
Growth hormone deficiency, isolated, 2 (IGHD2)2 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionAn 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.
See also OMIM:173100
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_015815209R → H in IGHD2. 2 PublicationsCorresponds to variant dbSNP:rs137853223EnsemblClinVar.1

Pharmaceutical usei

Available under the names Nutropin or Protropin (Genentech), Norditropin (Novo Nordisk), Genotropin (Pharmacia Upjohn), Humatrope (Eli Lilly) and Saizen or Serostim (Serono). Used for the treatment of growth hormone deficiency and for Turner's syndrome.

Keywords - Diseasei

Disease mutation, Dwarfism

Organism-specific databases

DisGeNETi2688
MalaCardsiGH1
MIMi173100 phenotype
262400 phenotype
262650 phenotype
612781 phenotype
OpenTargetsiENSG00000259384
Orphaneti231662 Isolated growth hormone deficiency type IA
231671 Isolated growth hormone deficiency type IB
231679 Isolated growth hormone deficiency type II
629 Short stature due to growth hormone qualitative anomaly
PharmGKBiPA171

Polymorphism and mutation databases

BioMutaiGH1

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Signal peptidei1 – 263 PublicationsAdd BLAST26
ChainiPRO_000003298827 – 217SomatotropinAdd BLAST191

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Disulfide bondi79 ↔ 1911 Publication
Modified residuei132Phosphoserine1 Publication1
Modified residuei163Deamidated glutamine; by deterioration1 Publication1
Modified residuei176Phosphoserine1 Publication1
Modified residuei178Deamidated asparagine; by deterioration1 Publication1
Disulfide bondi208 ↔ 215

Keywords - PTMi

Disulfide bond, Phosphoprotein

Proteomic databases

PaxDbiP01241
PeptideAtlasiP01241
PRIDEiP01241
ProteomicsDBi51353
51354 [P01241-2]
51355 [P01241-3]
51356 [P01241-4]

PTM databases

iPTMnetiP01241
PhosphoSitePlusiP01241

Expressioni

Gene expression databases

BgeeiENSG00000259384
CleanExiHS_GH1
ExpressionAtlasiP01241 baseline and differential
GenevisibleiP01241 HS

Organism-specific databases

HPAiHPA043715

Interactioni

Subunit structurei

Monomer, dimer, trimer, tetramer and pentamer, disulfide-linked or non-covalently associated, in homopolymeric and heteropolymeric combinations. Can also form a complex either with GHBP or with the alpha2-macroglobulin complex.

Binary interactionsi

WithEntry#Exp.IntActNotes
GHRP109123EBI-1026046,EBI-286316

GO - Molecular functioni

  • growth factor activity Source: BHF-UCL
  • growth hormone receptor binding Source: MGI
  • hormone activity Source: UniProtKB-KW
  • prolactin receptor binding Source: AgBase
View the complete GO annotation on QuickGO ...

Protein-protein interaction databases

BioGridi108955, 6 interactors
DIPiDIP-1022N
IntActiP01241, 82 interactors
STRINGi9606.ENSP00000312673

Structurei

Secondary structure

1217
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Helixi32 – 61Combined sources30
Helixi64 – 72Combined sources9
Helixi73 – 75Combined sources3
Turni80 – 83Combined sources4
Helixi90 – 94Combined sources5
Helixi98 – 110Combined sources13
Turni111 – 114Combined sources4
Helixi115 – 119Combined sources5
Helixi120 – 125Combined sources6
Turni129 – 133Combined sources5
Helixi136 – 154Combined sources19
Helixi163 – 166Combined sources4
Beta strandi178 – 180Combined sources3
Helixi182 – 209Combined sources28
Turni212 – 216Combined sources5

3D structure databases

ProteinModelPortaliP01241
SMRiP01241
ModBaseiSearch...
MobiDBiSearch...

Miscellaneous databases

EvolutionaryTraceiP01241

Family & Domainsi

Sequence similaritiesi

Belongs to the somatotropin/prolactin family.Curated

Keywords - Domaini

Signal

Phylogenomic databases

eggNOGiENOG410IFR6 Eukaryota
ENOG4111HU8 LUCA
GeneTreeiENSGT00730000111012
HOGENOMiHOG000068443
HOVERGENiHBG011318
InParanoidiP01241
KOiK05438
OMAiTYLRVMK
OrthoDBiEOG091G0KPU
PhylomeDBiP01241
TreeFamiTF332592

Family and domain databases

InterProiView protein in InterPro
IPR009079 4_helix_cytokine-like_core
IPR001400 Somatotropin/Prolactin
IPR018116 Somatotropin_CS
PANTHERiPTHR11417 PTHR11417, 1 hit
PfamiView protein in Pfam
PF00103 Hormone_1, 1 hit
PRINTSiPR00836 SOMATOTROPIN
SUPFAMiSSF47266 SSF47266, 1 hit
PROSITEiView protein in PROSITE
PS00266 SOMATOTROPIN_1, 1 hit
PS00338 SOMATOTROPIN_2, 1 hit

Sequences (5)i

Sequence statusi: Complete.

Sequence processingi: The displayed sequence is further processed into a mature form.

This entry describes 5 isoformsi produced by alternative splicing. AlignAdd to basket

Note: Additional isoforms seem to exist.
Isoform 1 (identifier: P01241-1) [UniParc]FASTAAdd to basket
Also known as: 22 kDa

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide

        10         20         30         40         50
MATGSRTSLL LAFGLLCLPW LQEGSAFPTI PLSRLFDNAM LRAHRLHQLA 
        60         70         80         90        100
FDTYQEFEEA YIPKEQKYSF LQNPQTSLCF SESIPTPSNR EETQQKSNLE 
       110        120        130        140        150
LLRISLLLIQ SWLEPVQFLR SVFANSLVYG ASDSNVYDLL KDLEEGIQTL 
       160        170        180        190        200
MGRLEDGSPR TGQIFKQTYS KFDTNSHNDD ALLKNYGLLY CFRKDMDKVE 
       210 
TFLRIVQCRS VEGSCGF
Length:217
Mass (Da):24,847
Last modified:March 1, 1992 - v2
Checksum:i72CC15AF4ED1C51A
GO
Isoform 2 (identifier: P01241-2) [UniParc]FASTAAdd to basket
Also known as: 20 kDa variant

The sequence of this isoform differs from the canonical sequence as follows:
     58-72: Missing.

Show »
Length:202
Mass (Da):22,992
Checksum:i65342A13E1856C5E
GO
Isoform 3 (identifier: P01241-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     111-148: Missing.

Show »
Length:179
Mass (Da):20,561
Checksum:i0E875A91BE0B9B7E
GO
Isoform 4 (identifier: P01241-4) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     117-162: Missing.

Show »
Length:171
Mass (Da):19,802
Checksum:i9FA9013991FA9F28
GO
Isoform 5 (identifier: P01241-5) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     58-97: Missing.

Note: No experimental confirmation available.
Show »
Length:177
Mass (Da):20,201
Checksum:i399A85FF90C22721
GO

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti35L → P in CAA23778 (PubMed:386281).Curated1
Sequence conflicti40M → S in CAA23779 (PubMed:6269091).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_0119173T → A Found in patients with isolated growth hormone deficiency. 3 PublicationsCorresponds to variant dbSNP:rs2001345EnsemblClinVar.1
Natural variantiVAR_01580116L → P in IGHD1B; suppresses secretion. 1 Publication1
Natural variantiVAR_01580237D → N in IGHD1B. 1 Publication1
Natural variantiVAR_01580342R → C in IGHD1B; reduced secretion. 1 PublicationCorresponds to variant dbSNP:rs71640273Ensembl.1
Natural variantiVAR_01580453T → I in IGHD1B; reduced ability to activate the JAK/STAT pathway. 1 Publication1
Natural variantiVAR_01580567K → R in IGHD1B; reduced ability to activate the JAK/STAT pathway. 1 Publication1
Natural variantiVAR_01580673N → D in IGHD1B; reduced ability to activate the JAK/STAT pathway. 1 PublicationCorresponds to variant dbSNP:rs71640276EnsemblClinVar.1
Natural variantiVAR_03270279C → 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. 1 PublicationCorresponds to variant dbSNP:rs137853222EnsemblClinVar.1
Natural variantiVAR_01580797S → F in IGHD1B; reduced ability to activate the JAK/STAT pathway. 1 Publication1
Natural variantiVAR_015808100E → K in IGHD1B. 1 Publication1
Natural variantiVAR_015809103R → C in KWKS; no effect on GHR signaling pathway; does not affect interaction with GHR; results in a stronger interaction with GHBP; does not affect subcellular location. 2 PublicationsCorresponds to variant dbSNP:rs137853220EnsemblClinVar.1
Natural variantiVAR_011918105S → C1 PublicationCorresponds to variant dbSNP:rs6174Ensembl.1
Natural variantiVAR_015810117Q → L in IGHD1B; reduced secretion. 1 Publication1
Natural variantiVAR_015811134S → C in IGHD1B. 1 Publication1
Natural variantiVAR_015812134S → R in IGHD1B; reduced ability to activate the JAK/STAT pathway. 1 Publication1
Natural variantiVAR_011919136V → I2 PublicationsCorresponds to variant dbSNP:rs5388EnsemblClinVar.1
Natural variantiVAR_015813138D → G in KWKS; loss of activity. 1 PublicationCorresponds to variant dbSNP:rs137853221EnsemblClinVar.1
Natural variantiVAR_015814201T → A in IGHD1B; reduced ability to activate the JAK/STAT pathway. 1 Publication1
Natural variantiVAR_032703205I → M in short stature; idiopathic autosomal. 1 PublicationCorresponds to variant dbSNP:rs148474991EnsemblClinVar.1
Natural variantiVAR_015815209R → H in IGHD2. 2 PublicationsCorresponds to variant dbSNP:rs137853223EnsemblClinVar.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_04564258 – 97Missing in isoform 5. 1 PublicationAdd BLAST40
Alternative sequenceiVSP_00620058 – 72Missing in isoform 2. 1 PublicationAdd BLAST15
Alternative sequenceiVSP_006201111 – 148Missing in isoform 3. 1 PublicationAdd BLAST38
Alternative sequenceiVSP_006202117 – 162Missing in isoform 4. 1 PublicationAdd BLAST46

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
V00519 mRNA Translation: CAA23778.1
V00520 Genomic DNA Translation: CAA23779.1
M13438 Genomic DNA Translation: AAA98618.1
J03071 Genomic DNA Translation: AAA52549.1
AF185611 mRNA Translation: AAG09699.1
AF110644 mRNA Translation: AAD48584.1
EU421712 Genomic DNA Translation: ABZ88713.1
AC127029 Genomic DNA No translation available.
CH471109 Genomic DNA Translation: EAW94233.1
BC062475 mRNA Translation: AAH62475.1
BC075012 mRNA Translation: AAH75012.1
BC075013 mRNA Translation: AAH75013.1
BC090045 mRNA Translation: AAH90045.1
CD106566 mRNA No translation available.
M14398 mRNA Translation: AAA52554.1
CCDSiCCDS11653.1 [P01241-1]
CCDS11654.1 [P01241-5]
CCDS45760.1 [P01241-2]
PIRiA93731 STHU
RefSeqiNP_000506.2, NM_000515.4 [P01241-1]
NP_072053.1, NM_022559.3 [P01241-2]
NP_072054.1, NM_022560.3 [P01241-5]
UniGeneiHs.655229

Genome annotation databases

EnsembliENST00000323322; ENSP00000312673; ENSG00000259384 [P01241-1]
ENST00000351388; ENSP00000343791; ENSG00000259384 [P01241-5]
ENST00000458650; ENSP00000408486; ENSG00000259384 [P01241-2]
GeneIDi2688
KEGGihsa:2688
UCSCiuc002jdi.4 human [P01241-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Similar proteinsi

Entry informationi

Entry nameiSOMA_HUMAN
AccessioniPrimary (citable) accession number: P01241
Secondary accession number(s): A6NEF6
, Q14405, Q16631, Q5EB53, Q9HBZ1, Q9UMJ7, Q9UNL5
Entry historyiIntegrated into UniProtKB/Swiss-Prot: July 21, 1986
Last sequence update: March 1, 1992
Last modified: July 18, 2018
This is version 213 of the entry and version 2 of the sequence. See complete history.
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

3D-structure, Complete proteome, Direct protein sequencing, Pharmaceutical, Reference proteome

Documents

  1. Human chromosome 17
    Human chromosome 17: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  6. SIMILARITY comments
    Index of protein domains and families

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