CSHL1 (chorionic somatomammotropin hormone like 1)

Gene

• Entrez ID: 1444
• Gene name: Chorionic somatomammotropin hormone like 1
• Gene symbol: CSHL1
• Synonyms (NCBI Gene): CS-5, CSHP1, CSL, GHB4, hCS-L
• Chromosome: 17
• Chromosome location: 17q23.3
• Summary: 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

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT002476	hsa-miR-16-5p	proteomics analysis	18362358
MIRT911882	hsa-miR-3150a-3p	CLIP-seq
MIRT911883	hsa-miR-3175	CLIP-seq
MIRT911884	hsa-miR-4640-5p	CLIP-seq
MIRT911885	hsa-miR-4667-5p	CLIP-seq
MIRT911886	hsa-miR-4700-5p	CLIP-seq
MIRT911887	hsa-miR-4726-5p	CLIP-seq
MIRT911888	hsa-miR-4728-5p	CLIP-seq
MIRT911889	hsa-miR-4768-3p	CLIP-seq
MIRT911890	hsa-miR-665	CLIP-seq
MIRT911891	hsa-miR-939	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005131	Function	Growth hormone receptor binding	IBA
GO:0005131	Function	Growth hormone receptor binding	IEA
GO:0005179	Function	Hormone activity	IBA
GO:0005179	Function	Hormone activity	IEA
GO:0005179	Function	Hormone activity	NAS	2744760
GO:0005515	Function	Protein binding	IPI	35156780
GO:0005576	Component	Extracellular region	IEA
GO:0005615	Component	Extracellular space	IBA
GO:0005615	Component	Extracellular space	IEA
GO:0005737	Component	Cytoplasm	IEA
GO:0008083	Function	Growth factor activity	IBA
GO:0012505	Component	Endomembrane system	IEA
GO:0031667	Process	Response to nutrient levels	IBA
GO:0031982	Component	Vesicle	IEA
GO:0046427	Process	Positive regulation of receptor signaling pathway via JAK-STAT	IBA
GO:0046872	Function	Metal ion binding	IEA
GO:0048513	Process	Animal organ development	IBA
GO:0060396	Process	Growth hormone receptor signaling pathway	IBA

Other IDs

• MIM: 603515
• HGNC: 2442
• e!Ensembl: ENSG00000204414

Protein

• UniProt ID: Q14406
• Protein name: Chorionic somatomammotropin hormone-like 1 (Chorionic somatomammotropin-like) (Lactogen-like)
• Protein function: May be a novel gestational hormone required to compensate for absence of other members of the GH/CS cluster during gestation.
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00103	Hormone_1	9 → 220	Somatotropin hormone family	Domain

• Sequence:

  MAAGSRTSLLLAFALLCLPWLQEAGAVQTVPLSRLFKEAMLQAHRAHQLAIDTYQEFISS
  WGMEAYITKEQKYSFLHDSQTSFCFSDSIPTSSNMEETQQKSNLELLHISLLLIESRLEP
  VRFLRSTFTNNLVYDTSDSDDYHLLKDLEEGIQMLMGRLEDGSHLTGQTLKQTYSKFDTN
  SHNHDALLKNYGLLHCFRKDMDKVETFLRMVQCRSVEGSCGF

• Sequence length: 222

Pathways

KEGG:

Cytokine-cytokine receptor interaction
Neuroactive ligand-receptor interaction
Hormone signaling
PI3K-Akt signaling pathway
JAK-STAT signaling pathway
Growth hormone synthesis, secretion and action

Associated diseases

Evidence Score:

• ★☆☆☆☆  Gene-disease association found in Text Mining only
• ★★☆☆☆  Found in Text Mining and Unknown/Other Associations
• ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources
• ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
• ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
PITUITARY DWARFISM I	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Angioedemas, Hereditary	Angioedema	BEFREE	28251901, 29998524		★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	21520243, 27066863		★☆☆☆☆ Found in Text Mining only
Dermatitis	Dermatitis	BEFREE	28472118		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	BEFREE	11782864		★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	BEFREE	23451269		★☆☆☆☆ Found in Text Mining only
Glioblastoma Multiforme	Glioblastoma	BEFREE	23451269		★☆☆☆☆ Found in Text Mining only
Isolated Growth Hormone Deficiency, Type II	Isolated Growth Hormone Deficiency	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
ISOLATED GROWTH HORMONE DEFICIENCY, TYPE IV	Isolated Growth Hormone Deficiency	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Kaposi Sarcoma	Kaposi Sarcoma	BEFREE	31308175		★☆☆☆☆ Found in Text Mining only
Kowarski syndrome	Kowarski syndrome	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
leukemia	Leukemia	BEFREE	19349467		★☆☆☆☆ Found in Text Mining only
Li-Fraumeni-Like Syndrome	Li-Fraumeni Syndrome	BEFREE	28608266		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	21520243, 27066863		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of skin	Skin cancer	BEFREE	30231994		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	21520243, 26302407, 27542230, 28684431, 31467287		★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms	Mammary Neoplasms	BEFREE	18339869		★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	22682244, 27066863, 29757189, 30231994		★☆☆☆☆ Found in Text Mining only
Ovarian Neoplasms	Ovarian neoplasm	Pubtator	18974129	Associate	★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasms	Pancreatic neoplasm	Pubtator	34134622	Associate	★☆☆☆☆ Found in Text Mining only
PITUITARY DWARFISM I	Pituitary dwarfism	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Squamous cell carcinoma	Carcinoma	BEFREE	26302407, 27542230, 29757189		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of skin	Skin carcinoma	BEFREE	31467287		★☆☆☆☆ Found in Text Mining only
von Willebrand Disease	von Willebrand disorder	BEFREE	27203734		★☆☆☆☆ Found in Text Mining only