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

Gene ID: 1442, updated on 9-Jun-2020

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
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
Orthologs

Genomic context

See CSH1 in Genome Data Viewer
Location:
17q23.3
Exon count:
5
Annotation release Status Assembly Chr Location
109.20200522 current GRCh38.p13 (GCF_000001405.39) 17 NC_000017.11 (63894918..63896574, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (61972268..61974027, complement)

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

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?

Phenotypes

NHGRI GWAS Catalog

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

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Potential readthrough

Included gene: CSH2

Homology

Clone Names

  • FLJ75407

Gene Ontology Provided by GOA

Function Evidence Code Pubs
growth factor activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
growth hormone receptor binding IBA
Inferred from Biological aspect of Ancestor
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
 
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 
growth hormone receptor signaling pathway IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
positive regulation of JAK-STAT cascade IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
positive regulation of growth IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
positive regulation of tyrosine phosphorylation of STAT protein IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
response to nutrient levels IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Component Evidence Code Pubs
endoplasmic reticulum IDA
Inferred from Direct Assay
more info
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 
vesicle IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

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)

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_001317.6NP_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, P0DML3
    UniProtKB/TrEMBL
    A8K6C2
    Related
    ENSP00000316416.8, ENST00000316193.13
    Conserved Domains (1) summary
    cd10285
    Location:35215
    somatotropin_like; Somatotropin or growth hormone (GH), placental lactogen, and related pituitary gland hormones

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.

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
    63894918..63896574 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.
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