LongevityMap Gene

Gene details

HGNC symbol
CSHL1 
Aliases
CSL; CS-5; GHB4; CSHP1; hCS-L 
Common name
chorionic somatomammotropin hormone like 1 
Description
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. Although the five genes share a remarkably high degree of sequence identity, they are expressed selectively in different tissues. This particular family member is expressed in placental villi, although it was originally thought to be a pseudogene. In fact, alternative splicing suggests that the majority of the transcripts would be unable to express a secreted protein. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]
Cytogenetic Location
17q23.3
UCSC Genome Browser
View 17q23.3 on the UCSC genome browser
OMIM
603515
Ensembl
ENSG00000204414
UniProt/Swiss-Prot
A0A0B4J1R0_HUMAN
Entrez Gene
1444
UniGene
654390
1000 Genomes
1000 Genomes

Homologs in model organisms

Danio rerio
gh1
Mus musculus
Gh1
Rattus norvegicus
Gh1

In other databases

GenAge model organism genes
  • A homolog of this gene for Mus musculus is present as Gh

Studies (1)

Significant/Non-significant: 0/1

Longevity Association
Non-significant
Population
Italian (Southern)
Study Design
A two-stage case-control study was performed to identify the association between longevity and variation of in homeostasis regulation pathway genes. 317 SNPs in 104 genes were analyzed in 78 cases (≥90 years, median age 98 years, 42 females) and 71 controls (<90 years, median age 67 years, 32 females) in stage 1. Then, 31 candidate SNPs identified in stage 1 (π markers = 0.1) were analyzed in an independent sample composed by 288 cases (≥90 years, median age 92 years, 163 females) and 554 controls (<90 years, median age 67 years, 277 females).
Conclusions
After adjustment for multiple testing, no significant association was identified between various SNPs and longevity.
Indentifier
rs2070680
Reference