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Aliases for CSN1S1 Gene

Aliases for CSN1S1 Gene

  • Casein Alpha S1 2 3
  • CSN1 3 4 6
  • Casein, Alpha 2 3
  • CASA 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 nocardiosis and enamel erosion. 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

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

Genomics for CSN1S1 Gene

Regulatory Elements for CSN1S1 Gene

Genomic Location for CSN1S1 Gene

Start:
69,931,081 bp from pter
End:
69,946,574 bp from pter
Size:
15,494 bases
Orientation:
Plus strand

Genomic View for CSN1S1 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
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

Proteomics data for CSN1S1 Gene at MOPED

Post-translational modifications for CSN1S1 Gene

Other Protein References for CSN1S1 Gene

No data available for DME Specific Peptides for CSN1S1 Gene

Domains for CSN1S1 Gene

Protein Domains for CSN1S1 Gene

Blocks:
InterPro:
ProtoNet:

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 :
  • P47710
Family:
  • Belongs to the alpha-casein family.
genes like me logo Genes that share domains with CSN1S1: view

No data available for Gene Families for CSN1S1 Gene

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

Gene Ontology (GO) - Molecular Function for CSN1S1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005215 transporter activity IEA --
genes like me logo Genes that share ontologies with CSN1S1: view

Phenotypes for CSN1S1 Gene

MGI mutant phenotypes for CSN1S1:
inferred from 1 alleles
GenomeRNAi human phenotypes for CSN1S1:
genes like me logo Genes that share phenotypes with CSN1S1: view

Animal Models for CSN1S1 Gene

MGI Knock Outs for CSN1S1:

No data available for Enzyme Numbers (IUBMB) , miRNA , Transcription Factor Targeting and HOMER Transcription for CSN1S1 Gene

Localization for CSN1S1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for CSN1S1 Gene

Secreted.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for CSN1S1 Gene COMPARTMENTS Subcellular localization image for CSN1S1 gene
Compartment Confidence
extracellular 5
cytoskeleton 3
cytosol 3
nucleus 3
plasma membrane 3
endoplasmic reticulum 2
golgi apparatus 2
mitochondrion 2
vacuole 2
chloroplast 1
endosome 1
lysosome 1

Gene Ontology (GO) - Cellular Components for CSN1S1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region TAS --
GO:0005615 extracellular space IDA 16502470
genes like me logo Genes that share ontologies with CSN1S1: view

Pathways for CSN1S1 Gene

SuperPathways for CSN1S1 Gene

No Data Available

Gene Ontology (GO) - Biological Process for CSN1S1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006810 transport --
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

Compounds for CSN1S1 Gene

(1) HMDB Compounds for CSN1S1 Gene

Compound Synonyms Cas Number PubMed IDs
Calcium
  • Ca
7440-70-2

(154) Novoseek inferred chemical compound relationships for CSN1S1 Gene

Compound -log(P) Hits PubMed IDs
whey 93.8 293
rennet 91.1 51
sodium caseinate 87.2 18
calcium caseinate 79.4 3
exorphins 78.5 6
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:

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 for CSN1S1 Gene

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

This gene is overexpressed in Breast - Mammary Tissue (38.4), Adipose - Visceral (Omentum) (5.1), and Adipose - Subcutaneous (4.6).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, and MOPED for CSN1S1 Gene

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 expressions with CSN1S1: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery 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 35
  • 98.92 (n)
  • 97.3 (a)
CSN1S1 36
  • 97 (a)
OneToOne
cow
(Bos Taurus)
Mammalia CSN1S1 36
  • 33 (a)
OneToOne
dog
(Canis familiaris)
Mammalia CSN1S1 36
  • 41 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Csn1s1 16
Species with no ortholog for CSN1S1:
  • 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)
  • 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 Sequence Context AA Info Type MAF
rs962689 -- 69,936,500(-) ATTTA(A/G)ATTTC intron-variant
rs1128576 -- 69,943,278(+) tcccg(A/G)gttca intron-variant
rs1128577 -- 69,943,286(+) TCAAG(C/T)GATTC intron-variant
rs1128581 -- 69,943,329(+) CAGGT(A/G/T)TGCAC intron-variant
rs1128582 -- 69,943,339(+) ACCAC(A/G)CCCAG intron-variant

Structural Variations from Database of Genomic Variants (DGV) for CSN1S1 Gene

Variant ID Type Subtype PubMed ID
nsv879454 CNV Loss 21882294
nsv879455 CNV Loss 21882294
dgv5628n71 CNV Loss 21882294
dgv5629n71 CNV Loss 21882294
nsv879460 CNV Gain 21882294

Relevant External Links for CSN1S1 Gene

HapMap Linkage Disequilibrium report
CSN1S1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CSN1S1 Gene

Disorders for CSN1S1 Gene

(89) Novoseek inferred disease relationships for CSN1S1 Gene

Disease -log(P) Hits PubMed IDs
allergy milk 88.7 26
allergy food 65.9 3
allergy 54.4 27
dermatitis atopic 48.2 8
encephalopathy chronic 36.9 1
genes like me logo Genes that share disorders with CSN1S1: view

No data available for UniProtKB/Swiss-Prot 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. (Hum. Genet. 1997) 2 3 4
  2. Characterization of three types of human alpha s1-casein mRNA transcripts. (PMID: 7619062) Johnsen L.B. … Berglund L. (Biochem. J. 1995) 2 3 4
  3. Human alpha S1-casein like protein: purification and N-terminal sequence determination. (PMID: 8192860) Cavaletto M. … Conti A. (Biol. Chem. Hoppe-Seyler 1994) 3 4
  4. On studying protein phosphorylation patterns using bottom-up LC- MS/MS: the case of human alpha-casein. (PMID: 17646876) Kjeldsen F. … Zubarev R.A. (Analyst 2007) 4 23
  5. Analysis of the human casein phosphoproteome by 2-D electrophoresis and MALDI-TOF/TOF MS reveals new phosphoforms. (PMID: 18847231) Poth A.G. … Holland J.W. (J. Proteome Res. 2008) 4 23

Products for CSN1S1 Gene

Sources for CSN1S1 Gene

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