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CSH1 chorionic somatomammotropin hormone 1 [ Homo sapiens (human) ]

Gene ID: 1442, updated on 10-Dec-2024

Summary

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Official Symbol
CSH1provided by HGNC
Official Full Name
chorionic somatomammotropin hormone 1provided by HGNC
Primary source
HGNC:HGNC:2440
See related
Ensembl:ENSG00000136488 MIM:150200; AllianceGenome:HGNC:2440
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
PL; CSA; CS-1; CSMT; GHB3; hCS-1; hCS-A
Summary
The protein encoded by this gene is a member of the somatotropin/prolactin family of hormones and plays an important role in growth control. The gene is located at the growth hormone locus on chromosome 17 along with four other related genes in the same transcriptional orientation; an arrangement which is thought to have evolved by a series of gene duplications. Although the five genes share a remarkably high degree of sequence identity, they are expressed selectively in different tissues. 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 mainly in the placenta and utilizes multiple transcription initiation sites. Expression of the identical mature proteins for chorionic somatomammotropin hormones 1 and 2 is upregulated during development, although the ratio of 1 to 2 increases by term. Mutations in this gene result in placental lactogen deficiency and Silver-Russell syndrome. [provided by RefSeq, Jul 2008]
Expression
Restricted expression toward placenta (RPKM 9553.7) See more
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Genomic context

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See CSH1 in Genome Data Viewer
Location:
17q23.3
Exon count:
5
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 17 NC_000017.11 (63894918..63896574, complement)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 17 NC_060941.1 (64765670..64767326, complement)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (61972278..61973934, complement)

Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:61958700-61959660 Neighboring gene chorionic somatomammotropin hormone 2 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8834 Neighboring gene growth hormone 2 Neighboring gene IGHD type 1A-1 recombination region Neighboring gene uncharacterized LOC112268204 Neighboring gene chorionic somatomammotropin hormone like 1 Neighboring gene growth hormone locus control region Neighboring gene growth hormone 1

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: Tissue-specific circular RNA induction during human fetal development
  • Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
  • BioProject: PRJNA270632
  • Publication: PMID 26076956
  • Analysis date: Mon Apr 2 22:54:59 2018

Bibliography

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Related articles in PubMed

  1. Nucleotide sequence of part of the gene for human chorionic somatomammotropin: purification of DNA complementary to predominant mRNA species. Seeburg PH, et al. Cell, 1977 Sep. PMID 71212
  2. Characterization of genomic variants in CSH1 and GH2, two candidate genes for Silver-Russell syndrome in 17q24-q25. Prager S, et al. Genet Test, 2003 Fall. PMID 14642004
  3. Placental mRNA in maternal plasma: prospects for fetal screening. Ferguson-Smith MA. Proc Natl Acad Sci U S A, 2003 Apr 15. PMID 12682290, Free PMC Article
  4. mRNA of placental origin is readily detectable in maternal plasma. Ng EK, et al. Proc Natl Acad Sci U S A, 2003 Apr 15. PMID 12644709, Free PMC Article
  5. Selective growth hormone/placental lactogen gene transcription and hormone production in pre- and postmenopausal human ovaries. Schwärzler P, et al. J Clin Endocrinol Metab, 1997 Oct. PMID 9329365

See all (91) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Plasmin generates vasoinhibin-like peptides by cleaving prolactin and placental lactogen.
    Title: Plasmin generates vasoinhibin-like peptides by cleaving prolactin and placental lactogen.
  2. Obesity and regulation of human placental lactogen production in pregnancy.
    Title: Obesity and regulation of human placental lactogen production in pregnancy.
  3. FGF-2b and hPL-A are promising candidates for regenerative therapy in Diabetes Mellitus by inducing de-differentiation of stem cells modulating pivotal endocrine genes.
    Title: FGF-2b and h-PL Transform Duct and Non-Endocrine Human Pancreatic Cells into Endocrine Insulin Secreting Cells by Modulating Differentiating Genes.
  4. Placental lactogen is expressed but is not translated into protein in breast cancer.
    Title: Placental lactogen is expressed but is not translated into protein in breast cancer.
  5. These results indicate that placental lactogen induces CYP2E1 expression via PI3-kinase pathway in human hepatocytes.
    Title: Human placental lactogen induces CYP2E1 expression via PI 3-kinase pathway in female human hepatocytes.
  6. Expression of placental lactogen mRNA is increased in plasma of women with placenta previa and invasive placenta.
    Title: Increased levels of cell-free human placental lactogen mRNA at 28-32 gestational weeks in plasma of pregnant women with placenta previa and invasive placenta.
  7. altered expression of placenta lactogen appears not to be causal for betamethasone-induced fetal growth restriction in the human
    Title: Growth restricting effects of a single course of antenatal betamethasone treatment and the role of human placental lactogen.
  8. results are consistent with a pleiotropic effect of placental hGH/CSH genes at the maternal-fetal interface relating to the regulation of fetal growth and the risk of affected maternal metabolism.
    Title: Differential placental expression profile of human Growth Hormone/Chorionic Somatomammotropin genes in pregnancies with pre-eclampsia and gestational diabetes mellitus.
  9. Data conclude that members of the C/EBP and Ets families can differentially modulate CS-Benh and CS-Aenh activity.
    Title: Identification of functional CCAAT/enhancer-binding protein and Ets protein binding sites in the human chorionic somatomammotropin enhancer sequences.
  10. hPL-A is involved in the regulation of pancreatic beta cells activity.
    Title: Human placental lactogen (hPL-A) activates signaling pathways linked to cell survival and improves insulin secretion in human pancreatic islets.
Submit: New GeneRIF Correction See all GeneRIFs (24)

Phenotypes

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Review eQTL and phenotype association data in this region using PheGenI

EBI GWAS Catalog

Description
Genome-wide meta-analysis identifies 11 new loci for anthropometric traits and provides insights into genetic architecture.
EBI GWAS Catalog
Meta-analysis of genome-wide association studies of adult height in East Asians identifies 17 novel loci.
EBI GWAS Catalog

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Potential readthrough

Included gene: CSH2

Homology

Clone Names

  • FLJ75407

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables growth factor activity IBA
Inferred from Biological aspect of Ancestor
more info
  
enables growth hormone receptor binding IBA
Inferred from Biological aspect of Ancestor
more info
  
enables hormone activity IBA
Inferred from Biological aspect of Ancestor
more info
  
enables metal ion binding IEA
Inferred from Electronic Annotation
more info
  
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
Process Evidence Code Pubs
involved_in animal organ development IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in growth hormone receptor signaling pathway IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in positive regulation of receptor signaling pathway via JAK-STAT IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in response to nutrient levels IBA
Inferred from Biological aspect of Ancestor
more info
  
Component Evidence Code Pubs
located_in endoplasmic reticulum IDA
Inferred from Direct Assay
more info
 PubMed 
located_in endosome lumen TAS
Traceable Author Statement
more info
  
located_in extracellular region TAS
Traceable Author Statement
more info
  
is_active_in extracellular space IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in vesicle IDA
Inferred from Direct Assay
more info
 PubMed 

General protein information

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Preferred Names
chorionic somatomammotropin hormone 1
Names
Chorionic somatomammotropin hormone 2
choriomammotropin
chorionic somatomammotropin A
chorionic somatomammotropin-1
growth hormone B3
placental lactogen

NCBI Reference Sequences (RefSeq)

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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_028354.1 RefSeqGene

    Range
    5088..6744
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001317.6 → NP_001308.1  chorionic somatomammotropin hormone 1 precursor

    See identical proteins and their annotated locations for NP_001308.1

    Status: REVIEWED

    Source sequence(s)
    AU134786, BC020756, BG436049
    Consensus CDS
    CCDS11649.1
    UniProtKB/Swiss-Prot
    P0DML2
    UniProtKB/TrEMBL
    A8K6C2, Q6PF11
    Related
    ENSP00000316416.8, ENST00000316193.13
    Conserved Domains (1) summary
    cd10285
    Location:35 → 215
    somatotropin_like; Somatotropin or growth hormone (GH), placental lactogen, and related pituitary gland hormones

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000017.11 Reference GRCh38.p14 Primary Assembly

    Range
    63894918..63896574 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060941.1 Alternate T2T-CHM13v2.0

    Range
    64765670..64767326 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

  1. NM_022640.3: Suppressed sequence

    Description
    NM_022640.3: This RefSeq was permanently suppressed because the transcript retains intronic sequence.

  2. NM_022641.3: Suppressed sequence

    Description
    NM_022641.3: This RefSeq was permanently suppressed because currently there is insufficient support for the transcript and the protein.

  3. NM_022642.2: Suppressed sequence

    Description
    NM_022642.2: This RefSeq record was removed by NCBI staff. Contact info@ncbi.nlm.nih.gov for further information.
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
P0DML2.1 GenPept UniProtKB/Swiss-Prot:P0DML2

Gene LinkOut

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