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

Summary

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

Location:: 17q23.3

Exon count:: 5

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	17	NC_000017.11 (63894918..63896574, complement)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	17	NC_060941.1 (64765670..64767326, complement)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	17	NC_000017.10 (61972278..61973934, complement)

Chromosome 17 - NC_000017.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Plasmin generates vasoinhibin-like peptides by cleaving prolactin and placental lactogen.
Title: Plasmin generates vasoinhibin-like peptides by cleaving prolactin and placental lactogen.
Obesity and regulation of human placental lactogen production in pregnancy.
Title: Obesity and regulation of human placental lactogen production in pregnancy.
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.
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.
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.
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.
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.
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.
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.
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 EBI GWAS CatalogPubMed
Meta-analysis of genome-wide association studies of adult height in East Asians identifies 17 novel loci. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

STS-J03756 (e-PCR)
- UniSTS:49793

NoName (e-PCR)
- UniSTS:482286

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 growth	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 positive regulation of tyrosine phosphorylation of STAT protein	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

NG_028354.1 RefSeqGene

Range

5088..6744

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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_2023_10

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

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000017.11 Reference GRCh38.p14 Primary Assembly

Range

63894918..63896574 complement

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GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

NC_060941.1 Alternate T2T-CHM13v2.0

Range

64765670..64767326 complement

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GenBank, FASTA, Sequence Viewer (Graphics)

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

NM_022640.3: Suppressed sequence

Description

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