Homo sapiens Gene: GH1
Summary
InnateDB Gene IDBG-543240.3
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol GH1
Gene Name growth hormone 1
Synonyms GH; GH-N; GHN; hGH-N; IGHD1B
Species Homo sapiens
Ensembl Gene ENSG00000259384
Encoded Proteins
growth hormone 1
growth hormone 1
growth hormone 1
growth hormone 1
growth hormone 1
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
Summary 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]
Gene Information
Type Protein coding
Genomic Location Chromosome 17:63917200-63918838
Strand Reverse strand
Band q23.3
Transcripts
ENST00000342364 ENSP00000339278
ENST00000323322 ENSP00000312673
ENST00000351388 ENSP00000343791
ENST00000458650 ENSP00000408486
ENST00000579711
ENST00000617086 ENSP00000481276
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 10 experimentally validated interaction(s) in this database.
Experimentally validated
Total 10 [view]
Protein-Protein 10 [view]
Protein-DNA 0
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Gene Ontology

Molecular Function
Accession GO Term
GO:0005131 growth hormone receptor binding
GO:0005148 prolactin receptor binding
GO:0005179 hormone activity
GO:0005515 protein binding
GO:0008083 growth factor activity
GO:0046872 metal ion binding
Biological Process
GO:0007259 JAK-STAT cascade
GO:0010535 positive regulation of activation of JAK2 kinase activity
GO:0014068 positive regulation of phosphatidylinositol 3-kinase signaling
GO:0015758 glucose transport
GO:0032355 response to estradiol
GO:0040018 positive regulation of multicellular organism growth
GO:0042517 positive regulation of tyrosine phosphorylation of Stat3 protein
GO:0042523 positive regulation of tyrosine phosphorylation of Stat5 protein
GO:0043406 positive regulation of MAP kinase activity
GO:0043568 positive regulation of insulin-like growth factor receptor signaling pathway
GO:0046427 positive regulation of JAK-STAT cascade
GO:0050731 positive regulation of peptidyl-tyrosine phosphorylation
GO:0060396 growth hormone receptor signaling pathway
GO:0060397 JAK-STAT cascade involved in growth hormone signaling pathway
GO:0070977 bone maturation
Cellular Component
GO:0005576 extracellular region
GO:0005615 extracellular space
Orthologs
Species
Mus musculus
Bos taurus
Gene ID
Gene Order
Not yet available
Pathways
NETPATH
REACTOME
Growth hormone receptor signaling pathway
Prolactin receptor signaling pathway
Nuclear signaling by ERBB4 pathway
Signaling by ERBB4 pathway
Synthesis, secretion, and deacylation of Ghrelin pathway
Cytokine Signaling in Immune system pathway
Signal Transduction pathway
Metabolism of proteins pathway
Immune System pathway
Peptide hormone metabolism pathway
KEGG
Neuroactive ligand-receptor interaction pathway
Cytokine-cytokine receptor interaction pathway
Jak-STAT signaling pathway pathway
INOH
Growth hormone signaling pathway
GPCR signaling pathway
PID NCI
Cross-References
SwissProt P01241
TrEMBL B1A4G6 B1A4G7 B1A4G9 B1A4H0
UniProt Splice Variant
Entrez Gene 2688
UniGene
RefSeq NM_000515 NM_022559 NM_022560 NM_022561 NM_022562
HUGO HGNC:4261
OMIM 139250
CCDS CCDS11653 CCDS11654 CCDS45760
HPRD
IMGT
EMBL AC127029 AF110644 AF185611 BC062475 BC075012 BC075013 BC090045 CD106566 CH471109 EU421712 J03071 M13438 M14398 V00519 V00520
GenPept AAA52549 AAA52554 AAA98618 AAD48584 AAG09699 AAH62475 AAH75012 AAH75013 AAH90045 ABZ88711 ABZ88712 ABZ88713 ABZ88714 ABZ88715 CAA23778 CAA23779 EAW94233 EAW94239 EAW94251 EAW94261
RNA Seq Atlas 2688