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GH1 Gene(Protein Coding)

Growth Hormone 1

GCID:
GC17M063917
GIFtS:
65
Genes Participants
UDN Logo

Aliases for GH1 Gene

Aliases for GH1 Gene

  • Growth Hormone 1 2 3 4 5
  • Pituitary Growth Hormone 2 3 4
  • Somatotropin 2 3
  • GH-N 3 4
  • GH 3 4
  • Growth Hormone B5 3
  • Growth Hormone 4
  • 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 Kowarski Syndrome. Among its related pathways are GPCR Pathway and Phospholipase-C Pathway. GO annotations related to this gene include growth factor activity and growth hormone receptor binding. An important paralog of this gene is CSH1.

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 CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for GH1 Gene

Genomics for GH1 Gene

Products:

  1. Regulatory Element

Regulatory Elements for GH1 Gene

Enhancers for GH1 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH17G064059 2 FANTOM5 Ensembl ENCODE dbSUPER 12.4 -145.4 -145409 9.5 HDGF PKNOX1 CREB3L1 ARNT WRNIP1 ARID4B ZBTB7B ZNF766 CBX5 ZNF143 ERN1 GH1 CSHL1 DDX5 SCN4A SNORD104 CD79B MAP3K3 LIMD2 ICAM2
GH17G063987 1.9 FANTOM5 Ensembl ENCODE dbSUPER 12.2 -70.0 -69967 2.0 HNRNPUL1 HDGF CREB3L1 MLX ZFP64 ARID4B SIN3A DMAP1 ZBTB7B YY1 CD79B GH1 CSHL1 SCN4A ENSG00000263489 PIR61137
GH17G064073 1.9 FANTOM5 Ensembl ENCODE dbSUPER 12 -157.0 -157044 4.8 PKNOX1 FOXA2 MLX ARID4B SIN3A DMAP1 ZBTB7B YY1 TCF12 GATA2 ERN1 DDX5 GH1 CSHL1 MAP3K3 LIMD2 ICAM2 PECAM1 MILR1 GC17M064041
GH17G064079 2 FANTOM5 Ensembl ENCODE dbSUPER 11.1 -164.0 -164004 6.7 HDGF PKNOX1 FOXA2 MLX CREB3L1 ARNT ARID4B SIN3A FEZF1 DMAP1 ERN1 GH1 CSHL1 SNORD104 MAP3K3 PECAM1 DDX5 PRR29 LIMD2 ICAM2
GH17G064013 1.7 FANTOM5 ENCODE dbSUPER 12.7 -101.2 -101176 12.9 MLX CREB3L1 ZFP64 DMAP1 YBX1 YY1 ZNF143 NFYC TBX21 MEF2D PRR29 GH1 CSHL1 DDX42 SCN4A AMZ2P1 ACE MILR1 ICAM2 CEP95
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around GH1 on UCSC Golden Path with GeneCards custom track

Transcription factor binding sites by QIAGEN in the GH1 gene promoter:

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 Structure • Gene Density

RefSeq DNA sequence for GH1 Gene

Proteins for GH1 Gene

Products:

  1. Antibody
  2. Protein
  3. Assay

  • 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

Protein Expression for GH1 Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

Post-translational modifications for GH1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for GH1 Gene

ENSEMBL proteins:
REFSEQ proteins:

Assay Products

  • Enzo Life Sciences assays for GH1

No data available for DME Specific Peptides for GH1 Gene

Domains & Families for GH1 Gene

Gene Families for GH1 Gene

HGNC:

Protein Domains for GH1 Gene

InterPro:
Blocks:
ProtoNet:

Suggested Antigen Peptide Sequences for GH1 Gene

GenScript: Design optimal peptide antigens:

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

Products:

  1. Animal Model
  2. CRISPR
  3. miRNA
  4. Inhibitory RNA
  5. Clone
  6. Cell Line
  7. Flow Cytometry

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:0005131 growth hormone receptor binding IPI 1549776
GO:0005148 prolactin receptor binding IPI 7984244
GO:0005179 hormone activity IEA --
GO:0005515 protein binding IPI 8943276
GO:0008083 growth factor activity IPI 9360546
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

  • Taconic Biosciences Mouse Models for GH1

Inhibitory RNA Products

Flow Cytometry 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
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for GH1 gene
Compartment Confidence
extracellular 5
endosome 4
nucleus 2
plasma membrane 1
mitochondrion 1
cytosol 1

Gene Ontology (GO) - Cellular Components for GH1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region TAS,IEA --
GO:0005615 extracellular space IDA 11549663
GO:0031904 endosome lumen TAS --
GO:0070195 growth hormone receptor complex IDA 1549776
genes like me logo Genes that share ontologies with GH1: view

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 --
GO:0010536 positive regulation of activation of Janus kinase activity IDA 8063815
GO:0014068 positive regulation of phosphatidylinositol 3-kinase signaling IDA 7782332
genes like me logo Genes that share ontologies with GH1: view

Drugs & Compounds for GH1 Gene

Products:

  1. Drug

(89) Drugs for GH1 Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials

(43) 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

Products:

  1. CRISPR
  2. miRNA
  3. Inhibitory RNA
  4. Clone
  5. Flow Cytometry

mRNA/cDNA for GH1 Gene

(5) REFSEQ mRNAs :
(9) Additional mRNA sequences :
(442) Selected AceView cDNA sequences:
(6) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for GH1 Gene

Growth hormone 1:
Representative Sequences:

Inhibitory RNA Products

Flow Cytometry Products

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

Products:

  1. Primer

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for GH1 Gene

mRNA expression in normal human tissues for GH1 Gene
mRNA expression by BioGPS for GH1 GenemRNA expression by GTEx 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



Protein tissue co-expression partners for GH1 Gene

NURSA nuclear receptor signaling pathways regulating expression of GH1 Gene:

GH1

SOURCE GeneReport for Unigene cluster for GH1 Gene:

Hs.655229

Evidence on tissue expression from TISSUES for GH1 Gene

  • Nervous system(4.5)
  • Blood(2.4)
  • Liver(2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for GH1 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • endocrine
  • immune
  • integumentary
  • nervous
  • skeleton
Organs:
Head and neck:
  • brain
  • ear
  • face
  • head
  • jaw
  • mandible
  • maxilla
  • mouth
  • neck
  • pituitary gland
  • skull
Thorax:
  • chest wall
  • clavicle
  • heart
  • rib
  • rib cage
  • scapula
  • sternum
Abdomen:
  • adrenal gland
Pelvis:
  • pelvis
Limb:
  • ankle
  • arm
  • digit
  • elbow
  • femur
  • fibula
  • finger
  • foot
  • forearm
  • hand
  • hip
  • humerus
  • knee
  • lower limb
  • radius
  • shin
  • shoulder
  • thigh
  • tibia
  • toe
  • ulna
  • upper limb
  • wrist
General:
  • blood
  • peripheral nerve
  • peripheral nervous system
  • skin
  • spinal column
  • sweat gland
  • vertebrae
  • white blood cell
genes like me logo Genes that share expression patterns with GH1: view

Primer 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 34
  • 97.85 (n)
GH-V 35
  • 94 (a)
 OneToOne
dog
(Canis familiaris)
 Mammalia GH1 35
  • 68 (a)
 OneToMany
cow
(Bos Taurus)
 Mammalia GH1 35
  • 67 (a)
 OneToMany
mouse
(Mus musculus)
 Mammalia Gh 35
  • 67 (a)
 OneToMany
oppossum
(Monodelphis domestica)
 Mammalia GH1 35
  • 60 (a)
 OneToMany
chicken
(Gallus gallus)
 Aves GH1 35
  • 55 (a)
 OneToMany
lizard
(Anolis carolinensis)
 Reptilia -- 35
  • 50 (a)
 OneToMany
zebrafish
(Danio rerio)
 Actinopterygii gh1 35
  • 37 (a)
 OneToMany
Species where no ortholog for GH1 was found in the sources mined by GeneCards:
  • 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
rs137853220 Pathogenic, Kowarski syndrome (KWKS) [MIM:262650] 63,917,909(-) TGCTC(C/T)GCATC reference, missense
rs137853221 Pathogenic, Kowarski syndrome (KWKS) [MIM:262650] 63,917,803(-) CTATG(A/G)CCTCC reference, missense
rs137853223 Pathogenic, Growth hormone deficiency, isolated, 2 (IGHD2) [MIM:173100] 63,917,337(-) GTGCC(A/G)CTCTG reference, missense
rs71640273 Growth hormone deficiency, isolated, 1B (IGHD1B) [MIM:612781] 63,918,393(-) TGCTC(C/T)GCGCC reference, missense
rs71640276 Growth hormone deficiency, isolated, 1B (IGHD1B) [MIM:612781] 63,918,091(-) TGCAG(A/G)ACCCC intron-variant, reference, missense

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

Variant ID Type Subtype PubMed ID
esv24237 CNV loss 19812545
esv2716099 CNV deletion 23290073
esv2716101 CNV deletion 23290073
esv3641019 CNV loss 21293372
esv3641020 CNV gain 21293372
nsv517272 CNV gain+loss 19592680
nsv833510 CNV loss 17160897
nsv833511 CNV loss 17160897
nsv960135 CNV duplication 23825009

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

Human Gene Mutation Database (HGMD)
GH1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
GH1

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

Disorders for GH1 Gene

MalaCards: The human disease database

(59) 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 ii
kowarski syndrome
  • biodefective growth hormone
growth hormone deficiency, isolated, type ia
  • isolated growth hormone deficiency, type ia
growth hormone deficiency, isolated, type ib
  • isolated growth hormone deficiency, type ib
isolated growth hormone deficiency, type ib, gh1-related
- 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:17519310, 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 22 64
  2. Biologically inactive growth hormone caused by an amino acid substitution. (PMID: 9276733) Takahashi Y. … Chihara K. (J. Clin. Invest. 1997) 3 4 22 64
  3. Genetic polymorphisms in the locus control region and promoter of GH1 are related to serum IGF-I levels and height in patients with isolated growth hormone deficiency and healthy controls. (PMID: 20190537) de Graaff L.C. … Hokken-Koelega A.C. (Horm Res Paediatr 2010) 3 46 64
  4. A Large-scale genetic association study of esophageal adenocarcinoma risk. (PMID: 20453000) Liu C.Y. … Christiani D.C. (Carcinogenesis 2010) 3 46 64
  5. Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study. (PMID: 20628086) Bailey S.D. … Anand S. (Diabetes Care 2010) 3 46 64

Products for GH1 Gene

Sources for GH1 Gene

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