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

    Gene ID: 1442, updated on 28-Oct-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: HPA RNA-seq normal tissues 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

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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)

    Genotypes

    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
      P01243, P0DML2, Q0VDB1, Q14407
      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

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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