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UniProtKB - P01241 (SOMA_HUMAN)

Entry version 235 (23 Feb 2022)
Sequence version 2 (01 Mar 1992)
Previous versions | rss
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Protein

Somatotropin

Gene

GH1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score:

Annotation score:5 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>-Experimental evidence at protein leveli <p>This indicates the type of evidence that supports the existence of the protein. Note that the 'protein existence' evidence does not give information on the accuracy or correctness of the sequence(s) displayed.<p><a href='/help/protein_existence' target='_top'>More...</a></p>

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>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
<p>This subsection of the <a href="http://www.uniprot.org/help/function%5Fsection">Function</a> section indicates at which position the protein binds a given metal ion. The nature of the metal is indicated in the 'Description' field.<p><a href='/help/metal' target='_top'>More...</a></p>Metal bindingi44ZincBy similarity1
Metal bindingi200ZincBy similarity1

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Molecular functioni

Complete GO annotation on QuickGO ...

GO - Biological processi

Complete GO annotation on QuickGO ...

<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywordsi

Molecular functionHormone
LigandMetal-binding, Zinc

Enzyme and pathway databases

Pathway Commons web resource for biological pathway data

More...PathwayCommonsi		P01241

Reactome - a knowledgebase of biological pathways and processes

More...Reactomei		R-HSA-1170546, Prolactin receptor signaling
R-HSA-422085, Synthesis, secretion, and deacylation of Ghrelin
R-HSA-982772, Growth hormone receptor signaling

SABIO-RK: Biochemical Reaction Kinetics Database

More...SABIO-RKi		P01241

SignaLink: a signaling pathway resource with multi-layered regulatory networks

More...SignaLinki		P01241

SIGNOR Signaling Network Open Resource

More...SIGNORi		P01241

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>Protein namesi
Recommended name:
Somatotropin
Alternative name(s):
Growth hormone
Short name:
GH
Short name:
GH-N
Growth hormone 1
Pituitary growth hormone
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: 'Name', 'Synonyms', 'Ordered locus names' and 'ORF names'.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi
Name:GH1
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the 'taxonomic identifier' or 'taxid'.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes%5Fmanual">proteome</a> can consist of several components.<br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome 17

Organism-specific databases

Human Gene Nomenclature Database

More...HGNCi		HGNC:4261, GH1

Online Mendelian Inheritance in Man (OMIM)

More...MIMi		139250, gene

neXtProt; the human protein knowledge platform

More...neXtProti		NX_P01241

Eukaryotic Pathogen, Vector and Host Database Resources

More...VEuPathDBi		HostDB:ENSG00000259384

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>Subcellular locationi

Keywords - Cellular componenti

Secreted

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

<p>This subsection of the 'Pathology and Biotech' section provides information on the disease(s) associated with genetic variations in a given protein. The information is extracted from the scientific literature and diseases that are also described in the <a href="http://www.ncbi.nlm.nih.gov/sites/entrez?db=omim">OMIM</a> database are represented with a <a href="http://www.uniprot.org/diseases">controlled vocabulary</a> in the following way:<p><a href='/help/involvement_in_disease' target='_top'>More...</a></p>Involvement in diseasei

Growth hormone deficiency, isolated, 1A (IGHD1A)1 Publication
The disease is caused by variants 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.
Related information in OMIM
Growth hormone deficiency, isolated, 1B (IGHD1B)1 Publication
The disease is caused by variants 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.
Related information in OMIM
Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Sequence' section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>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:rs71640273EnsemblClinVar.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 variants 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.
Related information in OMIM
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 variants 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.
Related information in OMIM
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_015815209R → H in IGHD2. 2 PublicationsCorresponds to variant dbSNP:rs137853223EnsemblClinVar.1

<p>This subsection of the 'Pathology and Biotech' section describes the use of a protein as a pharmaceutical drug. It indicates the name of the drug, the name of the firm that commercializes it and explains in a few words in which context the drug is used. In some cases, drugs that are under development are also described.<p><a href='/help/pharmaceutical_use' target='_top'>More...</a></p>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 variant, Dwarfism

Organism-specific databases

DisGeNET

More...DisGeNETi		2688

MalaCards human disease database

More...MalaCardsi		GH1
MIMi173100, phenotype
262400, phenotype
262650, phenotype
612781, phenotype

Open Targets

More...OpenTargetsi		ENSG00000259384

Orphanet; a database dedicated to information on rare diseases and orphan drugs

More...Orphaneti		231662, 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

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...PharmGKBi		PA171

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...Pharosi		P01241, Tbio

Genetic variation databases

BioMuta curated single-nucleotide variation and disease association database

More...BioMutai		GH1

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'PTM / Processing' section denotes the presence of an N-terminal signal peptide.<p><a href='/help/signal' target='_top'>More...</a></p>Signal peptidei1 – 263 PublicationsAdd BLAST26
<p>This subsection of the 'PTM / Processing' section describes the extent of a polypeptide chain in the mature protein following processing or proteolytic cleavage.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_000003298827 – 217SomatotropinAdd BLAST191

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the PTM / Processing":/help/ptm_processing_section section describes the positions of cysteine residues participating in disulfide bonds.<p><a href='/help/disulfid' target='_top'>More...</a></p>Disulfide bondi79 ↔ 1911 Publication
<p>This subsection of the 'PTM / Processing' section specifies the position and type of each modified residue excluding <a href="http://www.uniprot.org/manual/lipid">lipids</a>, <a href="http://www.uniprot.org/manual/carbohyd">glycans</a> and <a href="http://www.uniprot.org/manual/crosslnk">protein cross-links</a>.<p><a href='/help/mod_res' target='_top'>More...</a></p>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

MassIVE - Mass Spectrometry Interactive Virtual Environment

More...MassIVEi		P01241

PaxDb, a database of protein abundance averages across all three domains of life

More...PaxDbi		P01241

PeptideAtlas

More...PeptideAtlasi		P01241

PRoteomics IDEntifications database

More...PRIDEi		P01241

ProteomicsDB: a multi-organism proteome resource

More...ProteomicsDBi		51353 [P01241-1]
51354 [P01241-2]
51355 [P01241-3]
51356 [P01241-4]
982

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...iPTMneti		P01241

MetOSite database of methionine sulfoxide sites

More...MetOSitei		P01241

Comprehensive resource for the study of protein post-translational modifications (PTMs) in human, mouse and rat.

More...PhosphoSitePlusi		P01241

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...Bgeei		ENSG00000259384, Expressed in adenohypophysis and 105 other tissues

ExpressionAtlas, Differential and Baseline Expression

More...ExpressionAtlasi		P01241, baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...Genevisiblei		P01241, HS

Organism-specific databases

Human Protein Atlas

More...HPAi		ENSG00000259384, Tissue enriched (pituitary)

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

<p>This subsection of the <a href="http://www.uniprot.org/help/interaction%5Fsection">'Interaction'</a> section provides information about the protein quaternary structure and interaction(s) with other proteins or protein complexes (with the exception of physiological receptor-ligand interactions which are annotated in the <a href="http://www.uniprot.org/help/function%5Fsection">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>Subunit structurei

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

<p>This subsection of the '<a href="http://www.uniprot.org/help/interaction%5Fsection">Interaction</a>' section provides information about binary protein-protein interactions. The data presented in this section are a quality-filtered subset of binary interactions automatically derived from the <a href="https://www.ebi.ac.uk/intact/">IntAct database</a>. It is updated at every <a href="http://www.uniprot.org/help/synchronization">UniProt release</a>.<p><a href='/help/binary_interactions' target='_top'>More...</a></p>Binary interactionsi

GO - Molecular functioni

Complete GO annotation on QuickGO ...

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGRID)

More...BioGRIDi		108955, 11 interactors

Database of interacting proteins

More...DIPi		DIP-1022N

Protein interaction database and analysis system

More...IntActi		P01241, 5 interactors

STRING: functional protein association networks

More...STRINGi		9606.ENSP00000312673

Miscellaneous databases

RNAct, Protein-RNA interaction predictions for model organisms.

More...RNActi		P01241, protein

<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei

Secondary structure

1217
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details

3D structure databases

Biological Magnetic Resonance Data Bank

More...BMRBi		P01241

Small Angle Scattering Biological Data Bank

More...SASBDBi		P01241

SWISS-MODEL Repository - a database of annotated 3D protein structure models

More...SMRi		P01241

Database of comparative protein structure models

More...ModBasei		Search...

Protein Data Bank in Europe - Knowledge Base

More...PDBe-KBi		Search...

Miscellaneous databases

Relative evolutionary importance of amino acids within a protein sequence

More...EvolutionaryTracei		P01241

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

<p>This subsection of the 'Family and domains' section provides information about the sequence similarity with other proteins.<p><a href='/help/sequence_similarities' target='_top'>More...</a></p>Sequence similaritiesi

Belongs to the somatotropin/prolactin family.Curated

Keywords - Domaini

Signal

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...eggNOGi		ENOG502R5GJ, Eukaryota

Ensembl GeneTree

More...GeneTreei		ENSGT00950000182818

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...HOGENOMi		CLU_088274_2_1_1

InParanoid: Eukaryotic Ortholog Groups

More...InParanoidi		P01241

Identification of Orthologs from Complete Genome Data

More...OMAi		NSQVAFC

Database for complete collections of gene phylogenies

More...PhylomeDBi		P01241

TreeFam database of animal gene trees

More...TreeFami		TF332592

Family and domain databases

Gene3D Structural and Functional Annotation of Protein Families

More...Gene3Di		1.20.1250.10, 1 hit

Integrated resource of protein families, domains and functional sites

More...InterProi		View protein in InterPro
IPR009079, 4_helix_cytokine-like_core
IPR001400, Somatotropin/Prolactin
IPR018116, Somatotropin_CS

The PANTHER Classification System

More...PANTHERi		PTHR11417, PTHR11417, 1 hit

Pfam protein domain database

More...Pfami		View protein in Pfam
PF00103, Hormone_1, 1 hit

Protein Motif fingerprint database; a protein domain database

More...PRINTSi		PR00836, SOMATOTROPIN

Superfamily database of structural and functional annotation

More...SUPFAMi		SSF47266, SSF47266, 1 hit

PROSITE; a protein domain and family database

More...PROSITEi		View protein in PROSITE
PS00266, SOMATOTROPIN_1, 1 hit
PS00338, SOMATOTROPIN_2, 1 hit

<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence%5Flength">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>. The information is filed in different subsections. The current subsections and their content are listed below:<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequences (5+)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences%5Fsection">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>Sequence statusi: Complete.

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences%5Fsection">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">canonical sequence</a> displayed by default in the entry is in its mature form or if it represents the precursor.<p><a href='/help/sequence_processing' target='_top'>More...</a></p>Sequence processingi: The displayed sequence is further processed into a mature form.

This entry describes 5 <p>This subsection of the 'Sequence' section lists the alternative protein sequences (isoforms) that can be generated from the same gene by a single or by the combination of up to four biological events (alternative promoter usage, alternative splicing, alternative initiation and ribosomal frameshifting). Additionally, this section gives relevant information on each alternative protein isoform.<p><a href='/help/alternative_products' target='_top'>More...</a></p> isoformsi produced by alternative splicing. AlignAdd to basket
Note: Additional isoforms seem to exist.

This entry has 5 described isoforms and 6 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: P01241-1) [UniParc]FASTAAdd to basket
Also known as: 22 kDa

This isoform has been chosen as the <p><strong>What is the canonical sequence?</strong><p><a href='/help/canonical_and_isoforms' target='_top'>More...</a></p>canonicali 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
<p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> 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.

Show »
Length:177
Mass (Da):20,201
Checksum:i399A85FF90C22721
GO

<p>In eukaryotic reference proteomes, unreviewed entries that are likely to belong to the same gene are computationally mapped, based on gene identifiers from Ensembl, EnsemblGenomes and model organism databases.<p><a href='/help/gene_centric_isoform_mapping' target='_top'>More...</a></p>Computationally mapped potential isoform sequencesi

There are 6 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
B1A4G9B1A4G9_HUMAN
Growth hormone 1 isoform 4
GH1 hCG_1749481
122Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
A6NFB4A6NFB4_HUMAN
Chorionic somatomammotropin hormone...
CSH1 hCG_1749481
256Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
H0YM39H0YM39_HUMAN
Chorionic somatomammotropin hormone...
CSH2
160Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
B1A4H2B1A4H2_HUMAN
Chorionic somatomammotropin hormone...
CSH1 hCG_1749481
122Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
A0A087WUG6A0A087WUG6_HUMAN
Chorionic somatomammotropin hormone...
CSH1 CSH2
128Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
B1A4H0B1A4H0_HUMAN
Growth hormone 1 isoform 5
GH1
30Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Sequence' section reports difference(s) between the canonical sequence (displayed by default in the entry) and the different sequence submissions merged in the entry. These various submissions may originate from different sequencing projects, different types of experiments, or different biological samples. Sequence conflicts are usually of unknown origin.<p><a href='/help/conflict' target='_top'>More...</a></p>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:rs71640273EnsemblClinVar.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
<p>This subsection of the 'Sequence' section describes the sequence of naturally occurring alternative protein isoform(s). The changes in the amino acid sequence may be due to alternative splicing, alternative promoter usage, alternative initiation, or ribosomal frameshifting.<p><a href='/help/var_seq' target='_top'>More...</a></p>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:

EMBL nucleotide sequence database

More...EMBLi

GenBank nucleotide sequence database

More...GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...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

The Consensus CDS (CCDS) project

More...CCDSi		CCDS11653.1 [P01241-1]
CCDS11654.1 [P01241-5]
CCDS45760.1 [P01241-2]

Protein sequence database of the Protein Information Resource

More...PIRi		A93731, STHU

NCBI Reference Sequences

More...RefSeqi		NP_000506.2, NM_000515.4 [P01241-1]
NP_072053.1, NM_022559.3 [P01241-2]
NP_072054.1, NM_022560.3 [P01241-5]

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...Ensembli		ENST00000323322; ENSP00000312673; ENSG00000259384
ENST00000351388; ENSP00000343791; ENSG00000259384 [P01241-5]
ENST00000458650; ENSP00000408486; ENSG00000259384 [P01241-2]

Database of genes from NCBI RefSeq genomes

More...GeneIDi		2688

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...KEGGi		hsa:2688

Matched Annotation from NCBI and EMBL-EBI (MANE) - Phase one

More...MANE-Selecti		ENST00000323322.10; ENSP00000312673.5; NM_000515.5; NP_000506.2

UCSC genome browser

More...UCSCi		uc002jdi.4, human [P01241-1]

Keywords - Coding sequence diversityi

Alternative splicing

<p>This section provides links to proteins that are similar to the protein sequence(s) described in this entry at different levels of sequence identity thresholds (100%, 90% and 50%) based on their membership in UniProt Reference Clusters (<a href="http://www.uniprot.org/help/uniref">UniRef</a>).<p><a href='/help/similar_proteins_section' target='_top'>More...</a></p>Similar proteinsi

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>Cross-referencesi

<p>This subsection of the <a href="http://www.uniprot.org/manual/cross%5Freferences%5Fsection">Cross-references</a> section provides links to various web resources that are relevant for a specific protein.<p><a href='/help/web_resource' target='_top'>More...</a></p>Web resourcesi

Wikipedia

Growth hormone entry

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]

3D structure databases

Select the link destinations:

Protein Data Bank Europe

More...PDBei

Protein Data Bank RCSB

More...RCSB PDBi

Protein Data Bank Japan

More...PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
1A22X-ray2.60A27-217[»]
1AXIX-ray2.10A27-217[»]
1BP3X-ray2.90A27-217[»]
1HGUX-ray2.50A27-217[»]
1HUWX-ray2.00A27-217[»]
1HWGX-ray2.50A27-217[»]
1HWHX-ray2.90A27-217[»]
1KF9X-ray2.60A/D27-217[»]
3HHRX-ray2.80A27-216[»]
6QIOX-ray1.95D27-217[»]
BMRBiP01241
SASBDBiP01241
SMRiP01241
ModBaseiSearch...
PDBe-KBiSearch...

Protein-protein interaction databases

BioGRIDi108955, 11 interactors
DIPiDIP-1022N
IntActiP01241, 5 interactors
STRINGi9606.ENSP00000312673

PTM databases

iPTMnetiP01241
MetOSiteiP01241
PhosphoSitePlusiP01241

Genetic variation databases

BioMutaiGH1

Proteomic databases

MassIVEiP01241
PaxDbiP01241
PeptideAtlasiP01241
PRIDEiP01241
ProteomicsDBi51353 [P01241-1]
51354 [P01241-2]
51355 [P01241-3]
51356 [P01241-4]
982

Protocols and materials databases

Antibodypedia a portal for validated antibodies

More...Antibodypediai		52672, 1349 antibodies from 37 providers

The DNASU plasmid repository

More...DNASUi		2688

Genome annotation databases

EnsembliENST00000323322; ENSP00000312673; ENSG00000259384
ENST00000351388; ENSP00000343791; ENSG00000259384 [P01241-5]
ENST00000458650; ENSP00000408486; ENSG00000259384 [P01241-2]
GeneIDi2688
KEGGihsa:2688
MANE-SelectiENST00000323322.10; ENSP00000312673.5; NM_000515.5; NP_000506.2
UCSCiuc002jdi.4, human [P01241-1]

Organism-specific databases

Comparative Toxicogenomics Database

More...CTDi		2688
DisGeNETi2688

GeneCards: human genes, protein and diseases

More...GeneCardsi		GH1
HGNCiHGNC:4261, GH1
HPAiENSG00000259384, Tissue enriched (pituitary)
MalaCardsiGH1
MIMi139250, gene
173100, phenotype
262400, phenotype
262650, phenotype
612781, phenotype
neXtProtiNX_P01241
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
VEuPathDBiHostDB:ENSG00000259384

GenAtlas: human gene database

More...GenAtlasi		Search...

Phylogenomic databases

eggNOGiENOG502R5GJ, Eukaryota
GeneTreeiENSGT00950000182818
HOGENOMiCLU_088274_2_1_1
InParanoidiP01241
OMAiNSQVAFC
PhylomeDBiP01241
TreeFamiTF332592

Enzyme and pathway databases

PathwayCommonsiP01241
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

Miscellaneous databases

BioGRID ORCS database of CRISPR phenotype screens

More...BioGRID-ORCSi		2688, 4 hits in 1004 CRISPR screens

ChiTaRS: a database of human, mouse and fruit fly chimeric transcripts and RNA-sequencing data

More...ChiTaRSi		GH1, human
EvolutionaryTraceiP01241

Database of phenotypes from RNA interference screens in Drosophila and Homo sapiens

More...GenomeRNAii		2688
PharosiP01241, Tbio

Protein Ontology

More...PROi		PR:P01241
RNActiP01241, protein

The Stanford Online Universal Resource for Clones and ESTs

More...SOURCEi		Search...

Gene expression databases

BgeeiENSG00000259384, Expressed in adenohypophysis and 105 other tissues
ExpressionAtlasiP01241, baseline and differential
GenevisibleiP01241, HS

Family and domain databases

Gene3Di1.20.1250.10, 1 hit
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

MobiDB: a database of protein disorder and mobility annotations

More...MobiDBi		Search...

<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

<p>This subsection of the 'Entry information' section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.<p><a href='/help/entry_name' target='_top'>More...</a></p>Entry nameiSOMA_HUMAN
<p>This subsection of the 'Entry information' section provides one or more accession number(s). These are stable identifiers and should be used to cite UniProtKB entries. Upon integration into UniProtKB, each entry is assigned a unique accession number, which is called 'Primary (citable) accession number'.<p><a href='/help/accession_numbers' target='_top'>More...</a></p>AccessioniPrimary (citable) accession number: P01241
Secondary accession number(s): A6NEF6
, Q14405, Q16631, Q5EB53, Q9HBZ1, Q9UMJ7, Q9UNL5
<p>This subsection of the 'Entry information' section shows the date of integration of the entry into UniProtKB, the date of the last sequence update and the date of the last annotation modification ('Last modified'). The version number for both the entry and the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: July 21, 1986
Last sequence update: March 1, 1992
Last modified: February 23, 2022
This is version 235 of the entry and version 2 of the sequence. See complete history.
<p>This subsection of the 'Entry information' section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>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.

<p>This section contains any relevant information that doesn't fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>Miscellaneousi

Keywords - Technical termi

3D-structure, 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 genetic variants
    List of human entries with genetic variants
  3. Human variants curated from literature reports
    Index of human variants curated from literature reports
  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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