Format

Send to:

Choose Destination

GH1 growth hormone 1 [ Homo sapiens (human) ]

Gene ID: 2688, updated on 20-Dec-2019

Summary

Official Symbol
GH1provided by HGNC
Official Full Name
growth hormone 1provided by HGNC
Primary source
HGNC:HGNC:4261
See related
Ensembl:ENSG00000259384 MIM:139250
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
GH; GHN; GH-N; GHB5; IGHD2; hGH-N; IGHD1A; IGHD1B
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]
Expression
Restricted expression toward placenta (RPKM 13.6) See more
Orthologs

Genomic context

See GH1 in Genome Data Viewer
Location:
17q23.3
Exon count:
5
Annotation release Status Assembly Chr Location
109.20191205 current GRCh38.p13 (GCF_000001405.39) 17 NC_000017.11 (63917203..63918839, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (61994560..61996206, complement)

Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene IGHD type 1A-1 recombination region Neighboring gene uncharacterized LOC112268204 Neighboring gene chorionic somatomammotropin hormone like 1 Neighboring gene IGHD type 1A-2 recombination region Neighboring gene growth hormone locus control region Neighboring gene CD79b molecule

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

HIV-1 interactions

Protein interactions

Protein Gene Interaction Pubs
Tat tat HIV-1 Tat binding to phosphatidylinositol-(4,5)-bisphophate is required for inhibition of growth hormone secretion from cells PubMed
tat Overexpression of phosphatidylinositol 4 phosphate 5-kinase (PIP5K) suppresses HIV-1 Tat-mediated inhibition of growth hormone secretion from cells PubMed
tat Growth hormone (GH) inhibits the induction of p53 expression in neurons by supernatants from HIV-1 Tat-transfected monocytoid cells, indicating GH may have a role in the treatment of HIV-induced neurodegeneration PubMed

Go to the HIV-1, Human Interaction Database

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
growth factor activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
growth factor activity IPI
Inferred from Physical Interaction
more info
PubMed 
growth hormone receptor binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
growth hormone receptor binding IDA
Inferred from Direct Assay
more info
PubMed 
growth hormone receptor binding IPI
Inferred from Physical Interaction
more info
PubMed 
hormone activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
metal ion binding IEA
Inferred from Electronic Annotation
more info
 
prolactin receptor binding IDA
Inferred from Direct Assay
more info
PubMed 
prolactin receptor binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
JAK-STAT cascade involved in growth hormone signaling pathway TAS
Traceable Author Statement
more info
 
animal organ development IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
bone maturation IDA
Inferred from Direct Assay
more info
PubMed 
growth hormone receptor signaling pathway IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
growth hormone receptor signaling pathway IDA
Inferred from Direct Assay
more info
PubMed 
positive regulation of JAK-STAT cascade IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
positive regulation of JAK-STAT cascade IDA
Inferred from Direct Assay
more info
PubMed 
positive regulation of MAP kinase activity TAS
Traceable Author Statement
more info
PubMed 
positive regulation of activation of Janus kinase activity IDA
Inferred from Direct Assay
more info
PubMed 
positive regulation of glucose transmembrane transport IDA
Inferred from Direct Assay
more info
PubMed 
positive regulation of growth IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
positive regulation of insulin-like growth factor receptor signaling pathway IDA
Inferred from Direct Assay
more info
PubMed 
positive regulation of multicellular organism growth IDA
Inferred from Direct Assay
more info
PubMed 
positive regulation of multicellular organism growth IMP
Inferred from Mutant Phenotype
more info
PubMed 
positive regulation of peptidyl-tyrosine phosphorylation IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
positive regulation of peptidyl-tyrosine phosphorylation IDA
Inferred from Direct Assay
more info
PubMed 
positive regulation of phosphatidylinositol 3-kinase signaling IDA
Inferred from Direct Assay
more info
PubMed 
NOT positive regulation of receptor internalization IDA
Inferred from Direct Assay
more info
PubMed 
positive regulation of tyrosine phosphorylation of STAT protein IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
positive regulation of tyrosine phosphorylation of STAT protein IDA
Inferred from Direct Assay
more info
PubMed 
response to estradiol IDA
Inferred from Direct Assay
more info
PubMed 
response to nutrient levels IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Component Evidence Code Pubs
colocalizes_with collagen-containing extracellular matrix HDA PubMed 
endosome lumen TAS
Traceable Author Statement
more info
 
extracellular region TAS
Traceable Author Statement
more info
 
extracellular space IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
extracellular space IDA
Inferred from Direct Assay
more info
PubMed 
growth hormone receptor complex IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

Preferred Names
somatotropin
Names
growth hormone B5
pituitary growth hormone

NCBI Reference Sequences (RefSeq)

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_011676.1 RefSeqGene

    Range
    5000..6636
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_000515.5NP_000506.2  somatotropin isoform 1 precursor

    See identical proteins and their annotated locations for NP_000506.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).
    Source sequence(s)
    AV749353, BC090045
    Consensus CDS
    CCDS11653.1
    UniProtKB/Swiss-Prot
    P01241
    UniProtKB/TrEMBL
    B1A4G6
    Related
    ENSP00000312673.5, ENST00000323322.10
    Conserved Domains (1) summary
    cd10285
    Location:35215
    somatotropin_like; Somatotropin or growth hormone (GH), placental lactogen, and related pituitary gland hormones
  2. NM_022559.4NP_072053.1  somatotropin isoform 2 precursor

    See identical proteins and their annotated locations for NP_072053.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) uses an alternate in-frame splice site in the central coding region, compared to variant 1. The encoded isoform (b) is shorter, compared to isoform 1.
    Source sequence(s)
    AV749353, BC062475
    Consensus CDS
    CCDS45760.1
    UniProtKB/Swiss-Prot
    P01241
    UniProtKB/TrEMBL
    B1A4G7
    Related
    ENSP00000408486.2, ENST00000458650.6
    Conserved Domains (1) summary
    cd10285
    Location:35200
    somatotropin_like; Somatotropin or growth hormone (GH), placental lactogen, and related pituitary gland hormones
  3. NM_022560.4NP_072054.1  somatotropin isoform 3 precursor

    See identical proteins and their annotated locations for NP_072054.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) lacks an in-frame exon in the central coding region, compared to variant 1. The encoded isoform (3) is shorter, compared to isoform 1.
    Source sequence(s)
    AV749353, CD108592
    Consensus CDS
    CCDS11654.1
    UniProtKB/Swiss-Prot
    P01241
    Related
    ENSP00000343791.4, ENST00000351388.8
    Conserved Domains (1) summary
    cd10285
    Location:35175
    somatotropin_like; Somatotropin or growth hormone (GH), placental lactogen, and related pituitary gland hormones

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20191205

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000017.11 Reference GRCh38.p13 Primary Assembly

    Range
    63917203..63918839 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

  1. NM_022561.2: Suppressed sequence

    Description
    NM_022561.2: This RefSeq was permanently suppressed because currently there is insufficient support for the transcript and the protein.
  2. NM_022562.2: Suppressed sequence

    Description
    NM_022562.2: This RefSeq was permanently suppressed because currently there is insufficient support for the transcript and the protein.
Support Center