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    CSN1S1 casein alpha s1 [ Homo sapiens (human) ]

    Gene ID: 1446, updated on 10-Dec-2024

    Summary

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    Official Symbol
    CSN1S1provided by HGNC
    Official Full Name
    casein alpha s1provided by HGNC
    Primary source
    HGNC:HGNC:2445
    See related
    Ensembl:ENSG00000126545 MIM:115450; AllianceGenome:HGNC:2445
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    CASA; CSN1
    Summary
    Predicted to be involved in several processes, including response to 11-deoxycorticosterone; response to dehydroepiandrosterone; and response to progesterone. Located in extracellular space. [provided by Alliance of Genome Resources, Dec 2024]
    Expression
    Restricted expression toward fat (RPKM 9.4) See more
    Orthologs
    mouse all
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    Genomic context

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    See CSN1S1 in Genome Data Viewer
    Location:
    4q13.3
    Exon count:
    16
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 4 NC_000004.12 (69931068..69946574)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 4 NC_060928.1 (73265893..73281385)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 4 NC_000004.11 (70796786..70812292)

    Chromosome 4 - NC_000004.12Genomic Context describing neighboring genes Neighboring gene sulfotransferase family 1D member 1, pseudogene Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21599 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15467 Neighboring gene Sharpr-MPRA regulatory region 10246 Neighboring gene sulfotransferase family 1E member 1 Neighboring gene casein beta Neighboring gene uncharacterized LOC105377269

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: Tissue-specific circular RNA induction during human fetal development
    • Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
    • BioProject: PRJNA270632
    • Publication: PMID 26076956
    • Analysis date: Mon Apr 2 22:54:59 2018

    Bibliography

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    Related articles in PubMed

    1. Evidence of a novel biomarker, alphas1-Casein, a milk protein, in benign prostate hyperplasia. Xu K, et al. Prostate Cancer Prostatic Dis, 2006. PMID 16683014
    2. Human alpha S1-casein like protein: purification and N-terminal sequence determination. Cavaletto M, et al. Biol Chem Hoppe Seyler, 1994 Feb. PMID 8192860
    3. Ser71 of αS1-Casein is Phosphorylated in Breast Milk-Evidence from Targeted Mass Analysis. König S, et al. Mol Nutr Food Res, 2017 Dec. PMID 28786558
    4. Identification of minor proteins of human colostrum and mature milk by two-dimensional electrophoresis. Murakami K, et al. Electrophoresis, 1998 Oct. PMID 9820977
    5. Casein α s1 is expressed by human monocytes and upregulates the production of GM-CSF via p38 MAPK. Vordenbäumen S, et al. J Immunol, 2011 Jan 1. PMID 21135174

    See all (33) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Serine-71 in alpha-S1 casein is phosphorylated in the breast milk.
      Title: Ser71 of αS1-Casein is Phosphorylated in Breast Milk-Evidence from Targeted Mass Analysis.
    2. Results suggest that autoimmunity to insulin can occur infrequently via cross-reactivity to food protein alpha casein.
      Title: Insulin autoantibodies with high affinity to the bovine milk protein alpha casein.
    3. Casein alpha s1 is expressed in human monocytes and stimulates expression of proinflammatory cytokine granulocyte-macrophage colony-stimulating factor (GM-CSF) via an immunomodulatory role beyond the nutritional function of CSN1S1 in milk.
      Title: Casein α s1 is expressed by human monocytes and upregulates the production of GM-CSF via p38 MAPK.
    4. alphas1-Casein may be a potential biomarker for early identification of BPH patients.
      Title: Evidence of a novel biomarker, alphas1-Casein, a milk protein, in benign prostate hyperplasia.
    Submit: New GeneRIF Correction

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • MGC149368

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    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 TAS
    Traceable Author Statement
    more info
    		  
    located_in extracellular space HDA 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
    casein, alpha

    NCBI Reference Sequences (RefSeq)

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    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_001025104.2 → NP_001020275.1  alpha-S1-casein isoform 2 precursor

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) lacks an in-frame exon, compared to variant 1, and encodes a shorter isoform (2), compared to isoform 1.
      Source sequence(s)
      AC108941, BG217918, X78416
      Consensus CDS
      CCDS54769.1
      UniProtKB/TrEMBL
      E9PDQ1
      Related
      ENSP00000422611.1, ENST00000507763.5

    2. NM_001890.2 → NP_001881.1  alpha-S1-casein isoform 1 precursor

      See identical proteins and their annotated locations for NP_001881.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
      Source sequence(s)
      AC108941, X78416
      Consensus CDS
      CCDS47067.1
      UniProtKB/Swiss-Prot
      A1A510, A1A511, E9PB60, P47710, Q4PNR5
      UniProtKB/TrEMBL
      E9PDQ1
      Related
      ENSP00000246891.4, ENST00000246891.9

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000004.12 Reference GRCh38.p14 Primary Assembly

      Range
      69931068..69946574
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_006714090.3 → XP_006714153.1  alpha-S1-casein isoform X2

      UniProtKB/TrEMBL
      D6RF34
      Related
      ENSP00000426684.1, ENST00000505782.5

    2. XM_006714089.3 → XP_006714152.1  alpha-S1-casein isoform X1

      UniProtKB/TrEMBL
      E9PDQ1

    3. XM_006714091.3 → XP_006714154.1  alpha-S1-casein isoform X3

      UniProtKB/TrEMBL
      D6RF34

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060928.1 Alternate T2T-CHM13v2.0

      Range
      73265893..73281385
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054348972.1 → XP_054204947.1  alpha-S1-casein isoform X2

      UniProtKB/TrEMBL
      D6RF34

    2. XM_054348971.1 → XP_054204946.1  alpha-S1-casein isoform X1

      UniProtKB/TrEMBL
      E9PDQ1

    3. XM_054348973.1 → XP_054204948.1  alpha-S1-casein isoform X3

      UniProtKB/TrEMBL
      D6RF34
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    P47710.1 GenPept UniProtKB/Swiss-Prot:P47710

    Gene LinkOut

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

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