• Gene id: 1444

Gene Summary

• Gene Symbol: CSHL1   Gene   UCSC   Ensembl
• Aliases: CS-5, CSHP1, CSL, GHB4, hCS-L
• Gene name: chorionic somatomammotropin hormone like 1
• Alternate names: chorionic somatomammotropin hormone-like 1, chorionic somatomammotropin CS-5, epididymis secretory sperm binding protein, growth hormone B4, growth hormone cluster,
• Gene location: 17q23.3 (63911279: 63909601)     Exons: 4     NC_000017.11
• Gene summary(Entrez): 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
• OMIM: 603515

Protein Summary

• Protein general information: Q14406  
  • Name: Chorionic somatomammotropin hormone like 1 (Chorionic somatomammotropin like) (Lactogen like)
  • Length: 222  
  • Mass: 25391
• Sequence:

  MAAGSRTSLLLAFALLCLPWLQEAGAVQTVPLSRLFKEAMLQAHRAHQLAIDTYQEFISSWGMEAYITKEQKYSF
  LHDSQTSFCFSDSIPTSSNMEETQQKSNLELLHISLLLIESRLEPVRFLRSTFTNNLVYDTSDSDDYHLLKDLEE
  GIQMLMGRLEDGSHLTGQTLKQTYSKFDTNSHNHDALLKNYGLLHCFRKDMDKVETFLRMVQCRSVEGSCGF

• Structural information:
  • Interpro: IPR009079  IPR001400  IPR018116  
  • Prosite: PS00338
  • STRING: ENSP00000309524
• Other Databases: GeneCards:  CSHL1  Malacards:  CSHL1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0060396	growth hormone receptor signaling pathway	IBA	biological process
GO:0048513	animal organ development	IBA	biological process
GO:0005615	extracellular space	IBA	cellular component
GO:0005131	growth hormone receptor binding	IBA	molecular function
GO:0046427	positive regulation of receptor signaling pathway via JAK-STAT	IBA	biological process
GO:0045927	positive regulation of growth	IBA	biological process
GO:0042531	positive regulation of tyrosine phosphorylation of STAT protein	IBA	biological process
GO:0031667	response to nutrient levels	IBA	biological process
GO:0008083	growth factor activity	IBA	molecular function
GO:0005179	hormone activity	IBA	molecular function
GO:0005576	extracellular region	IEA	cellular component
GO:0005179	hormone activity	IEA	molecular function
GO:0046872	metal ion binding	IEA	molecular function
GO:0005576	extracellular region	IEA	cellular component
GO:0005179	hormone activity	IEA	molecular function
GO:0005576	extracellular region	IEA	cellular component
GO:0005575	cellular_component	ND	cellular component
GO:0005179	hormone activity	NAS	molecular function
GO:0008150	biological_process	ND	biological process

Diseases

Associated diseases	References
Hypospermatogenesis	MIK: 28361989
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
28361989	Hypospermatogenesis			6 (3 controls, 3 Klienfelter syndrome	Male infertility	Microarray