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    Csn1s1 casein alpha s1 [ Mus musculus (house mouse) ]

    Gene ID: 12990, updated on 5-Mar-2024

    Summary

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    Official Symbol
    Csn1s1provided by MGI
    Official Full Name
    casein alpha s1provided by MGI
    Primary source
    MGI:MGI:88540
    See related
    Ensembl:ENSMUSG00000070702 AllianceGenome:MGI:88540
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Mus musculus
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
    Also known as
    Csna
    Summary
    Predicted to be involved in response to dehydroepiandrosterone; response to estradiol; and response to steroid hormone. Located in extracellular region. Is expressed in embryo and mammary gland. Orthologous to human CSN1S1 (casein alpha s1). [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Low expression observed in reference dataset See more
    Orthologs
    human all
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    Genomic context

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    Location:
    5 E1; 5 43.56 cM
    Exon count:
    34
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 5 NC_000071.7 (87814067..87830437)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 5 NC_000071.6 (87666208..87682578)

    Chromosome 5 - NC_000071.7Genomic Context describing neighboring genes Neighboring gene microRNA 3969 Neighboring gene pleckstrin and Sec7 domain containing 3 pseudogene Neighboring gene STARR-seq mESC enhancer starr_13561 Neighboring gene STARR-seq mESC enhancer starr_13562 Neighboring gene casein beta Neighboring gene predicted gene, 25066

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: Mouse ENCODE transcriptome data
    • Description: RNA profiling data sets generated by the Mouse ENCODE project.
    • BioProject: PRJNA66167
    • Publication: PMID 25409824
    • Analysis date: n/a

    Bibliography

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    Related articles in PubMed

    1. Evaluation of the α-casein (CSN1S1) locus as a potential target for a site-specific transgene integration. Smirnov AV, et al. Sci Rep, 2022 May 14. PMID 35568783, Free PMC Article
    2. Milk lacking α-casein leads to permanent reduction in body size in mice. Kolb AF, et al. PLoS One, 2011. PMID 21789179, Free PMC Article
    3. Casein expression in cytotoxic T lymphocytes. Grusby MJ, et al. Proc Natl Acad Sci U S A, 1990 Sep. PMID 2395885, Free PMC Article
    4. Characterization of three types of human alpha s1-casein mRNA transcripts. Johnsen LB, et al. Biochem J, 1995 Jul 1. PMID 7619062, Free PMC Article
    5. Expression analysis of the individual bovine beta-, alpha s2- and kappa-casein genes in transgenic mice. Rijnkels M, et al. Biochem J, 1995 Nov 1. PMID 7487953, Free PMC Article

    See all (32) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. The role of the milk protein alpha-casein by inactivating the corresponding gene in mice, was analysed.
      Title: Milk lacking α-casein leads to permanent reduction in body size in mice.
    Submit: New GeneRIF Correction

    Variation

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    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by MGI

    Process Evidence Code Pubs
    involved_in response to 11-deoxycorticosterone IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in response to dehydroepiandrosterone IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in response to estradiol IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in response to progesterone IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Component Evidence Code Pubs
    located_in extracellular region IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    is_active_in extracellular space IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  

    General protein information

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    Preferred Names
    alpha-S1-casein
    Names
    alpha-casein

    NCBI Reference Sequences (RefSeq)

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    NEW Try the new Transcript table

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_001286015.1 → NP_001272944.1  alpha-S1-casein isoform b precursor

      See identical proteins and their annotated locations for NP_001272944.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) lacks an alternate in-frame exon in the 5' coding region, compared to variant 1, resulting in an isoform (b) that is shorter than isoform a.
      Source sequence(s)
      AK052808, BE335666, M36780
      UniProtKB/TrEMBL
      Q99JM6, Q99M19
      Conserved Domains (1) summary
      pfam00363
      Location:209 → 284
      Casein; Casein

    2. NM_001286016.1 → NP_001272945.1  alpha-S1-casein isoform c precursor

      See identical proteins and their annotated locations for NP_001272945.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) uses an alternate in-frame splice site in the 3' coding region, compared to variant 1, resulting in an isoform (c) that is shorter than isoform a.
      Source sequence(s)
      AK052808, BE335666, M36780
      Consensus CDS
      CCDS80314.1
      UniProtKB/TrEMBL
      Q91VV1, Q99M19
      Related
      ENSMUSP00000142794.2, ENSMUST00000197631.5
      Conserved Domains (1) summary
      pfam00363
      Location:217 → 268
      Casein; Casein

    3. NM_007784.3 → NP_031810.1  alpha-S1-casein isoform a precursor

      See identical proteins and their annotated locations for NP_031810.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (a).
      Source sequence(s)
      AK052808, BE335666, M36780
      Consensus CDS
      CCDS51534.1
      UniProtKB/Swiss-Prot
      P19228
      UniProtKB/TrEMBL
      Q99M19
      Related
      ENSMUSP00000092225.5, ENSMUST00000094641.9
      Conserved Domains (1) summary
      pfam00363
      Location:217 → 292
      Casein; Casein

    RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCm39 C57BL/6J

    Genomic

    1. NC_000071.7 Reference GRCm39 C57BL/6J

      Range
      87814067..87830437
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein Strain
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    P19228.1 GenPept UniProtKB/Swiss-Prot:P19228

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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