Gene Gene information from NCBI Gene database. Download as csv Download as pdf
Entrez ID	1446
Gene name	Casein alpha s1
Gene symbol	CSN1S1
Synonyms (NCBI Gene)	CASACSN1
Chromosome	4
Chromosome location	4q13.3

miRTarBase ID	miRNA	Experiments	Reference
MIRT755329	hsa-miR-380-3p	Luciferase reporter assayWestern blottingqRT-PCRCLIP-seq	37170511

9 Show/Hide all (9)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005515	Function	Protein binding	IPI	32296183
GO:0005576	Component	Extracellular region	IEA
GO:0005576	Component	Extracellular region	TAS
GO:0005615	Component	Extracellular space	HDA	16502470
GO:0005615	Component	Extracellular space	IBA
GO:0032355	Process	Response to estradiol	IBA
GO:0032570	Process	Response to progesterone	IBA
GO:1903494	Process	Response to dehydroepiandrosterone	IBA
GO:1903496	Process	Response to 11-deoxycorticosterone	IBA

MIM	HGNC	e!Ensembl
115450	2445	ENSG00000126545

Protein Protein information from UniProt database. Download as csv Download as pdf
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.	P47710
Protein name	Alpha-S1-casein [Cleaved into: Casoxin-D]
Protein function	Important role in the capacity of milk to transport calcium phosphate.; Casoxin D acts as opioid antagonist and has vasorelaxing activity mediated by bradykinin B1 receptors.
Family and domains
Tissue specificity	TISSUE SPECIFICITY: Mammary gland specific. Secreted in milk.
Sequence	MRLLILTCLVAVALARPKLPLRYPERLQNPSESSEPIPLESREEYMNGMNRQRNILREKQ TDEIKDTRNESTQNCVVAEPEKMESSISSSSEEMSLSKCAEQFCRLNEYNQLQLQAAHAQ EQIRRMNENSHVQVPFQQLNQLAAYPYAVWYYPQIMQYVPFPPFSDISNPTAHENYEKNN VMLQW
Sequence length	185
Interactions	View interactions

Reactome Pathway
Miscellaneous transport and binding events

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)

Phenotype Name	Clinical Significance	Source	Reference	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
CHONDROMALACIA	—	GWAS catalog	39024449	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
UTERINE FIBROID	—	GWAS catalog	40050615	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining Show/Hide Text Mining Associations (10)
Alzheimer Disease	Alzheimer disease	Pubtator	31664702	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	10367247, 23453899		★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Squamous Cell	Squamous cell carcinoma	Pubtator	32158625	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Dyssomnias	Dyssomnia	BEFREE	31252661		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	10367247, 23453899		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of penis	Penile cancer	BEFREE	27325650		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	27325650		★★★★★ ★☆☆☆☆ Found in Text Mining only
Osteoarthritis	Osteoarthritis	Pubtator	29258882	Stimulate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Serum Sickness	Serum Sickness	BEFREE	22496735		★★★★★ ★☆☆☆☆ Found in Text Mining only
Sleep Disorders	Sleep Disorders	BEFREE	31252661		★★★★★ ★☆☆☆☆ Found in Text Mining only

Related Genes Genes most often co-reported with CSN1S1 across shared curated disease and pathway associations. 0 Download as csv Download as pdf
No strongly related genes found yet for CSN1S1.

Diseases Linked via Similar Genes Diseases curated for genes most similar to CSN1S1 (see Related Genes above), that are NOT already directly curated for CSN1S1 itself -- a lead worth checking, not a confirmed association. 0 Download as csv Download as pdf
No additional diseases found yet through genes similar to CSN1S1.

CSN1S1 (casein alpha s1)

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