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Aliases for GH1 Gene

Aliases for GH1 Gene

  • Growth Hormone 1 2 3 4 5
  • Pituitary Growth Hormone 2 3 4
  • GH-N 3 4
  • GH 3 4
  • Growth Hormone B5 3
  • Growth Hormone 4
  • Somatotropin 2
  • IGHD1B 3
  • HGH-N 3
  • GHB5 3
  • GHN 3

External Ids for GH1 Gene

Previous GeneCards Identifiers for GH1 Gene

  • GC17U990034
  • GC17M064420
  • GC17M062292
  • GC17M062424
  • GC17M062467
  • GC17M059348
  • GC17M061994
  • GC17M057362

Summaries for GH1 Gene

Entrez Gene Summary for GH1 Gene

  • The protein encoded by this gene is a member of the somatotropin/prolactin family of hormones which play an important role in growth control. The gene, along with four other related genes, is located at the growth hormone locus on chromosome 17 where they are interspersed in the same transcriptional orientation; an arrangement which is thought to have evolved by a series of gene duplications. The five genes share a remarkably high degree of sequence identity. Alternative splicing generates additional isoforms of each of the five growth hormones, leading to further diversity and potential for specialization. This particular family member is expressed in the pituitary but not in placental tissue as is the case for the other four genes in the growth hormone locus. Mutations in or deletions of the gene lead to growth hormone deficiency and short stature. [provided by RefSeq, Jul 2008]

GeneCards Summary for GH1 Gene

GH1 (Growth Hormone 1) is a Protein Coding gene. Diseases associated with GH1 include growth hormone deficiency, isolated, type ii and growth hormone deficiency, isolated, type ia. Among its related pathways are Signaling by GPCR and Transport to the Golgi and subsequent modification. GO annotations related to this gene include growth factor activity and growth hormone receptor binding. An important paralog of this gene is CSHL1.

UniProtKB/Swiss-Prot for GH1 Gene

  • 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.

Gene Wiki entry for GH1 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for GH1 Gene

Genomics for GH1 Gene

Regulatory Elements for GH1 Gene

Genomic Location for GH1 Gene

Chromosome:
17
Start:
63,917,193 bp from pter
End:
63,918,852 bp from pter
Size:
1,660 bases
Orientation:
Minus strand

Genomic View for GH1 Gene

Genes around GH1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
GH1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for GH1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for GH1 Gene

Proteins for GH1 Gene

  • Protein details for GH1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P01241-SOMA_HUMAN
    Recommended name:
    Somatotropin
    Protein Accession:
    P01241
    Secondary Accessions:
    • A6NEF6
    • Q14405
    • Q16631
    • Q5EB53
    • Q9HBZ1
    • Q9UMJ7
    • Q9UNL5

    Protein attributes for GH1 Gene

    Size:
    217 amino acids
    Molecular mass:
    24847 Da
    Quaternary structure:
    • 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.
    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.

    Three dimensional structures from OCA and Proteopedia for GH1 Gene

    Alternative splice isoforms for GH1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for GH1 Gene

Proteomics data for GH1 Gene at MOPED

Post-translational modifications for GH1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for GH1 Gene

Antibody Products

No data available for DME Specific Peptides for GH1 Gene

Domains & Families for GH1 Gene

Gene Families for GH1 Gene

Graphical View of Domain Structure for InterPro Entry

P01241

UniProtKB/Swiss-Prot:

SOMA_HUMAN :
  • Belongs to the somatotropin/prolactin family.
Family:
  • Belongs to the somatotropin/prolactin family.
genes like me logo Genes that share domains with GH1: view

Function for GH1 Gene

Molecular function for GH1 Gene

GENATLAS Biochemistry:
growth hormone 1 (N),anabolic and lipolytic,released from the anterior pituitary in a pulsatile and circadian manner,expressed in lymphocytes
UniProtKB/Swiss-Prot 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.

Gene Ontology (GO) - Molecular Function for GH1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005148 prolactin receptor binding IPI 7984244
GO:0005515 protein binding IPI 8943276
genes like me logo Genes that share ontologies with GH1: view
genes like me logo Genes that share phenotypes with GH1: view

Human Phenotype Ontology for GH1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

No data available for Enzyme Numbers (IUBMB) , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for GH1 Gene

Localization for GH1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for GH1 Gene

Secreted.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for GH1 Gene COMPARTMENTS Subcellular localization image for GH1 gene
Compartment Confidence
extracellular 5
nucleus 2
chloroplast 1
cytosol 1
mitochondrion 1
plasma membrane 1

No data available for Gene Ontology (GO) - Cellular Components for GH1 Gene

Pathways & Interactions for GH1 Gene

genes like me logo Genes that share pathways with GH1: view

SIGNOR curated interactions for GH1 Gene

Activates:

Gene Ontology (GO) - Biological Process for GH1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0002092 NOT positive regulation of receptor internalization IDA 9360546
GO:0007259 JAK-STAT cascade IDA 8063815
GO:0010535 positive regulation of activation of JAK2 kinase activity IDA 8063815
GO:0015758 glucose transport IDA 9144201
GO:0032355 response to estradiol IDA 12552091
genes like me logo Genes that share ontologies with GH1: view

Drugs & Compounds for GH1 Gene

(86) Drugs for GH1 Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials

(46) Additional Compounds for GH1 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with GH1: view

Transcripts for GH1 Gene

Unigene Clusters for GH1 Gene

Growth hormone 1:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for GH1 Gene

No ASD Table

Relevant External Links for GH1 Gene

GeneLoc Exon Structure for
GH1
ECgene alternative splicing isoforms for
GH1

Expression for GH1 Gene

mRNA expression in normal human tissues for GH1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for GH1 Gene

This gene is overexpressed in Pituitary (x52.9).

Protein differential expression in normal tissues from HIPED for GH1 Gene

This gene is overexpressed in Esophagus (69.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for GH1 Gene



SOURCE GeneReport for Unigene cluster for GH1 Gene Hs.655229

genes like me logo Genes that share expression patterns with GH1: view

Protein tissue co-expression partners for GH1 Gene

Primer Products

In Situ Assay Products

No data available for mRNA Expression by UniProt/SwissProt for GH1 Gene

Orthologs for GH1 Gene

This gene was present in the common ancestor of chordates.

Orthologs for GH1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia GH1 35
  • 97.85 (n)
  • 99.54 (a)
GH-V 36
  • 94 (a)
OneToOne
cow
(Bos Taurus)
Mammalia GH1 36
  • 67 (a)
OneToMany
dog
(Canis familiaris)
Mammalia GH1 36
  • 68 (a)
OneToMany
oppossum
(Monodelphis domestica)
Mammalia GH1 36
  • 60 (a)
OneToMany
mouse
(Mus musculus)
Mammalia Gh 36
  • 67 (a)
OneToMany
chicken
(Gallus gallus)
Aves GH1 36
  • 55 (a)
OneToMany
lizard
(Anolis carolinensis)
Reptilia -- 36
  • 50 (a)
OneToMany
zebrafish
(Danio rerio)
Actinopterygii gh1 36
  • 37 (a)
OneToMany
Species with no ortholog for GH1:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • rainbow trout (Oncorhynchus mykiss)
  • rat (Rattus norvegicus)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for GH1 Gene

ENSEMBL:
Gene Tree for GH1 (if available)
TreeFam:
Gene Tree for GH1 (if available)

Paralogs for GH1 Gene

Paralogs for GH1 Gene

(4) SIMAP similar genes for GH1 Gene using alignment to 7 proteins:

genes like me logo Genes that share paralogs with GH1: view

Variants for GH1 Gene

Sequence variations from dbSNP and Humsavar for GH1 Gene

SNP ID Clin Chr 17 pos Sequence Context AA Info Type
rs2001345 - 63,918,770(+) ACCTG(C/G/T)AGCCA reference, missense, splice-donor-variant
rs6174 - 63,917,902(+) CATCT(C/G)CCTGC reference, missense
rs5388 - 63,917,810(-) GCAAC(A/G)TCTAT reference, missense
VAR_015801 Growth hormone deficiency, isolated, 1B (IGHD1B)
VAR_015802 Growth hormone deficiency, isolated, 1B (IGHD1B)

Structural Variations from Database of Genomic Variants (DGV) for GH1 Gene

Variant ID Type Subtype PubMed ID
nsv833510 CNV Loss 17160897
nsv517272 CNV Gain+Loss 19592680
nsv833511 CNV Loss 17160897
esv2716099 CNV Deletion 23290073
esv2716101 CNV Deletion 23290073
esv24237 CNV Loss 19812545

Variation tolerance for GH1 Gene

Residual Variation Intolerance Score: 81.9% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.31; 41.18% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for GH1 Gene

HapMap Linkage Disequilibrium report
GH1
Human Gene Mutation Database (HGMD)
GH1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for GH1 Gene

Disorders for GH1 Gene

MalaCards: The human disease database

(56) MalaCards diseases for GH1 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
growth hormone deficiency, isolated, type ii
  • isolated growth hormone deficiency type 2
growth hormone deficiency, isolated, type ia
  • dwarfism
kowarski syndrome
  • biodefective growth hormone
growth hormone deficiency, isolated, type ib
  • isolated growth hormone deficiency type 1b
short stature due to growth hormone qualitative anomaly
  • kowarski syndrome
- elite association - COSMIC cancer census association via MalaCards
Search GH1 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

SOMA_HUMAN
  • 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 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. {ECO:0000269 PubMed:12655557}. 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. {ECO:0000269 PubMed:11502836, ECO:0000269 PubMed:9152628}. 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. {ECO:0000269 PubMed:8552145, ECO:0000269 PubMed:9276733}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Genatlas disease for GH1 Gene

dwarfism (GH-N deficiency,isolated),autosomal recessive and rare dominant forms

Relevant External Links for GH1

Genetic Association Database (GAD)
GH1
Human Genome Epidemiology (HuGE) Navigator
GH1
Tumor Gene Database (TGDB):
GH1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
GH1
genes like me logo Genes that share disorders with GH1: view

Publications for GH1 Gene

  1. Autosomal dominant GH deficiency due to an Arg183His GH-1 gene mutation: clinical and molecular evidence of impaired regulated GH secretion. (PMID: 11502836) Deladoey J. … Mullis P.E. (J. Clin. Endocrinol. Metab. 2001) 3 4 23 67
  2. Growth hormone and insulin-like growth factor-I in the transition from normal mammary development to preneoplastic mammary lesions. (PMID: 19075184) Kleinberg D.L. … Lee A.V. (Endocr. Rev. 2009) 3 23
  3. Growth hormone and bone mineral densitiy in HIV-1-infected male subjects. (PMID: 18504173) Teichmann J. … Bretzel R.G. (Eur. J. Med. Res. 2008) 3 23
  4. Stimulation of human omental adipose tissue lipolysis by growth hormone plus dexamethasone. (PMID: 18640775) Fain J.N. … Madan A.K. (Mol. Cell. Endocrinol. 2008) 3 23
  5. Regulation of growth hormone signaling by selective estrogen receptor modulators occurs through suppression of protein tyrosine phosphatases. (PMID: 17272397) Leung K.C. … Ho K.K. (Endocrinology 2007) 3 23

Products for GH1 Gene

Sources for GH1 Gene

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