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Aliases for CSN1S1 Gene

Aliases for CSN1S1 Gene

  • Casein Alpha S1 2 3 5
  • Casein, Alpha 2 3
  • CASA 3 4
  • CSN1 3 4
  • Alpha-S1-Casein 3

External Ids for CSN1S1 Gene

Previous HGNC Symbols for CSN1S1 Gene

  • CASA
  • CSN1

Previous GeneCards Identifiers for CSN1S1 Gene

  • GC04P070845
  • GC04P071046
  • GC04P071113
  • GC04P071114
  • GC04P070977
  • GC04P066594

Summaries for CSN1S1 Gene

GeneCards Summary for CSN1S1 Gene

CSN1S1 (Casein Alpha S1) is a Protein Coding gene. Diseases associated with CSN1S1 include Milk Allergy and Goat Milk Allergy. Gene Ontology (GO) annotations related to this gene include transporter activity.

UniProtKB/Swiss-Prot for CSN1S1 Gene

  • 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.

Gene Wiki entry for CSN1S1 Gene

Additional gene information for CSN1S1 Gene

No data available for Entrez Gene Summary , CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for CSN1S1 Gene

Genomics for CSN1S1 Gene

GeneHancer (GH) Regulatory Elements for CSN1S1 Gene

Promoters and enhancers for CSN1S1 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH04I069931 Promoter 0.5 EPDnew 550.8 0.0 -13 0.1 CSN1S1 ENSG00000251489
GH04I069757 Promoter/Enhancer 1.8 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 8.2 -171.6 -171559 4 FOXA2 TAF1 MAX CEBPG RAD21 YY1 POLR2A HNF4G NFE2 RXRA SULT1B1 CSN1S1 GC04P069761 UGT2A1
GH04I069829 Enhancer 1.6 FANTOM5 Ensembl ENCODE dbSUPER 8.8 -98.9 -98882 5.2 FOXA2 MLX ARID4B DMAP1 IRF4 ETS1 YY1 TCF12 ATF7 RUNX3 SULT1B1 SULT1E1 CSN1S1 UGT2A2 GC04M069835 ENSG00000284695 SULT1D1P
GH04I069857 Promoter/Enhancer 1.3 EPDnew Ensembl ENCODE 9.4 -71.9 -71854 4.3 GATAD2A FOXA2 NFIA HLF CEBPB CEBPG REST YY1 NFIL3 ATF4 SULT1E1 CSN1S1 SULT1B1 ENSG00000284695
GH04I069822 Enhancer 1.3 Ensembl ENCODE dbSUPER 9.2 -107.4 -107434 2.9 FOXA2 MLX DMAP1 YY1 RXRA SP5 NFYC MIER2 REST PPARG CSN1S1 SULT1B1 SULT1D1P GC04M069835 ENSG00000284695
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around CSN1S1 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the CSN1S1 gene promoter:

Genomic Locations for CSN1S1 Gene

Genomic Locations for CSN1S1 Gene
chr4:69,931,062-69,946,574
(GRCh38/hg38)
Size:
15,513 bases
Orientation:
Plus strand
chr4:70,796,799-70,812,289
(GRCh37/hg19)

Genomic View for CSN1S1 Gene

Genes around CSN1S1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
CSN1S1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for CSN1S1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CSN1S1 Gene

Proteins for CSN1S1 Gene

  • Protein details for CSN1S1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P47710-CASA1_HUMAN
    Recommended name:
    Alpha-S1-casein
    Protein Accession:
    P47710
    Secondary Accessions:
    • A1A510
    • A1A511
    • E9PB60
    • Q4PNR5

    Protein attributes for CSN1S1 Gene

    Size:
    185 amino acids
    Molecular mass:
    21671 Da
    Quaternary structure:
    • Heteromultimers of alpha-s1 casein and kappa-casein; disulfide-linked.
    Miscellaneous:
    • In milk, the alpha s1- and beta-caseins precipitate in presence of calcium (so-called calcium-sensitive caseins). Kappa-casein prevents the precipitation of the other caseins by calcium through the formation of large stable colloidal particles termed micelles.

    Alternative splice isoforms for CSN1S1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for CSN1S1 Gene

Post-translational modifications for CSN1S1 Gene

No data available for DME Specific Peptides for CSN1S1 Gene

Domains & Families for CSN1S1 Gene

Gene Families for CSN1S1 Gene

Human Protein Atlas (HPA):
  • Cancer-related genes
  • Predicted intracellular proteins
  • Predicted secreted proteins

Protein Domains for CSN1S1 Gene

Suggested Antigen Peptide Sequences for CSN1S1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

P47710

UniProtKB/Swiss-Prot:

CASA1_HUMAN :
  • Belongs to the alpha-casein family.
Family:
  • Belongs to the alpha-casein family.
genes like me logo Genes that share domains with CSN1S1: view

Function for CSN1S1 Gene

Molecular function for CSN1S1 Gene

UniProtKB/Swiss-Prot Function:
Important role in the capacity of milk to transport calcium phosphate.
UniProtKB/Swiss-Prot Function:
Casoxin D acts as opioid antagonist and has vasorelaxing activity mediated by bradykinin B1 receptors.

Phenotypes From GWAS Catalog for CSN1S1 Gene

genes like me logo Genes that share phenotypes with CSN1S1: view

Clone Products

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for CSN1S1 Gene

Localization for CSN1S1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for CSN1S1 Gene

Secreted.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for CSN1S1 gene
Compartment Confidence
extracellular 5
mitochondrion 3
plasma membrane 2
nucleus 1

Gene Ontology (GO) - Cellular Components for CSN1S1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region TAS --
genes like me logo Genes that share ontologies with CSN1S1: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for CSN1S1 Gene

Pathways & Interactions for CSN1S1 Gene

SuperPathways for CSN1S1 Gene

No Data Available

SIGNOR curated interactions for CSN1S1 Gene

Activates:

Gene Ontology (GO) - Biological Process for CSN1S1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0055085 transmembrane transport TAS --
genes like me logo Genes that share ontologies with CSN1S1: view

No data available for Pathways by source for CSN1S1 Gene

Drugs & Compounds for CSN1S1 Gene

(72) Drugs for CSN1S1 Gene - From: HMDB and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
calcium Approved Nutra 0

(82) Additional Compounds for CSN1S1 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with CSN1S1: view

Transcripts for CSN1S1 Gene

mRNA/cDNA for CSN1S1 Gene

Unigene Clusters for CSN1S1 Gene

Casein alpha s1:
Representative Sequences:

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for CSN1S1 Gene

No ASD Table

Relevant External Links for CSN1S1 Gene

GeneLoc Exon Structure for
CSN1S1
ECgene alternative splicing isoforms for
CSN1S1

Expression for CSN1S1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for CSN1S1 Gene

mRNA differential expression in normal tissues according to GTEx for CSN1S1 Gene

This gene is overexpressed in Breast - Mammary Tissue (x38.4), Adipose - Visceral (Omentum) (x5.1), and Adipose - Subcutaneous (x4.6).

Protein differential expression in normal tissues from HIPED for CSN1S1 Gene

This gene is overexpressed in Milk (69.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for CSN1S1 Gene



Protein tissue co-expression partners for CSN1S1 Gene

NURSA nuclear receptor signaling pathways regulating expression of CSN1S1 Gene:

CSN1S1

SOURCE GeneReport for Unigene cluster for CSN1S1 Gene:

Hs.3155

mRNA Expression by UniProt/SwissProt for CSN1S1 Gene:

P47710-CASA1_HUMAN
Tissue specificity: Mammary gland specific. Secreted in milk.
genes like me logo Genes that share expression patterns with CSN1S1: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , Evidence on tissue expression from TISSUES and Phenotype-based relationships between genes and organs from Gene ORGANizer for CSN1S1 Gene

Orthologs for CSN1S1 Gene

This gene was present in the common ancestor of mammals.

Orthologs for CSN1S1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia CSN1S1 33 34
  • 98.92 (n)
dog
(Canis familiaris)
Mammalia CSN1S1 34
  • 41 (a)
OneToOne
cow
(Bos Taurus)
Mammalia CSN1S1 34
  • 33 (a)
OneToOne
Species where no ortholog for CSN1S1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • lizard (Anolis carolinensis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • mouse (Mus musculus)
  • oppossum (Monodelphis domestica)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • rainbow trout (Oncorhynchus mykiss)
  • rat (Rattus norvegicus)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)
  • zebrafish (Danio rerio)

Evolution for CSN1S1 Gene

ENSEMBL:
Gene Tree for CSN1S1 (if available)
TreeFam:
Gene Tree for CSN1S1 (if available)

Paralogs for CSN1S1 Gene

No data available for Paralogs for CSN1S1 Gene

Variants for CSN1S1 Gene

Sequence variations from dbSNP and Humsavar for CSN1S1 Gene

SNP ID Clin Chr 04 pos Variation AA Info Type
rs1000188149 -- 69,931,453(+) A/G intron_variant
rs1000240586 -- 69,931,181(+) G/C/T intron_variant
rs10002549 -- 69,945,254(+) G/A intron_variant
rs1000382011 -- 69,937,313(+) A/C intron_variant
rs1000525768 -- 69,930,186(+) A/G upstream_transcript_variant

Variation tolerance for CSN1S1 Gene

Residual Variation Intolerance Score: 86.7% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.86; 48.27% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for CSN1S1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
CSN1S1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Structural Variations from Database of Genomic Variants (DGV) for CSN1S1 Gene

Disorders for CSN1S1 Gene

MalaCards: The human disease database

(14) MalaCards diseases for CSN1S1 Gene - From: DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
milk allergy
  • milk allergic reaction
goat milk allergy
  • capra hircus milk allergy
food allergy
  • food hypersensitivity
allergic hypersensitivity disease
  • allergic disease
atrophy of testis
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for CSN1S1

genes like me logo Genes that share disorders with CSN1S1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for CSN1S1 Gene

Publications for CSN1S1 Gene

  1. Genomic organization and chromosomal localization of the human casein gene family. (PMID: 9050925) Fujiwara Y … Ueda M (Human genetics 1997) 2 3 4 58
  2. Characterization of three types of human alpha s1-casein mRNA transcripts. (PMID: 7619062) Johnsen LB … Berglund L (The Biochemical journal 1995) 2 3 4 58
  3. Analysis of the human casein phosphoproteome by 2-D electrophoresis and MALDI-TOF/TOF MS reveals new phosphoforms. (PMID: 18847231) Poth AG … Holland JW (Journal of proteome research 2008) 4 22 58
  4. On studying protein phosphorylation patterns using bottom-up LC-MS/MS: the case of human alpha-casein. (PMID: 17646876) Kjeldsen F … Zubarev RA (The Analyst 2007) 4 22 58
  5. A surface plasmon resonance study of the interactions between the component subunits of protein kinase CK2 and two protein substrates, casein and calmodulin. (PMID: 11827172) Benítez MJ … Jiménez JS (Molecular and cellular biochemistry 2001) 3 22 58

Products for CSN1S1 Gene

Sources for CSN1S1 Gene

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