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    CSN3 casein kappa [ Homo sapiens (human) ]

    Gene ID: 1448, updated on 27-Nov-2024

    Summary

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    Official Symbol
    CSN3provided by HGNC
    Official Full Name
    casein kappaprovided by HGNC
    Primary source
    HGNC:HGNC:2446
    See related
    Ensembl:ENSG00000171209 MIM:601695; AllianceGenome:HGNC:2446
    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
    KCA; CSNK; CNS10; CSN10
    Summary
    Involved in lactation and protein stabilization. Located in extracellular space. [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Restricted expression toward salivary gland (RPKM 13.6) See more
    Orthologs
    mouse all
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    Genomic context

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    See CSN3 in Genome Data Viewer
    Location:
    4q13.3
    Exon count:
    6
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 4 NC_000004.12 (70238381..70251432)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 4 NC_060928.1 (73578064..73590918)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 4 NC_000004.11 (71104098..71117149)

    Chromosome 4 - NC_000004.12Genomic Context describing neighboring genes Neighboring gene odontogenic, ameloblast associated Neighboring gene ReSE screen-validated silencer GRCh37_chr4:71086538-71086690 Neighboring gene follicular dendritic cell secreted protein Neighboring gene calcium binding protein, spermatid associated 1 Neighboring gene submaxillary gland androgen regulated protein 3A

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    Related articles in PubMed

    1. Cloning and sequencing of human kappa-casein cDNA. Bergström S, et al. DNA Seq, 1992. PMID 1296818
    2. Structural features of a peptide corresponding to human kappa-casein residues 84-101 by 1H-nuclear magnetic resonance spectroscopy. Plowman JE, et al. J Dairy Res, 1999 Feb. PMID 10191473
    3. Structure of the human kappa-casein gene. Edlund A, et al. Gene, 1996 Sep 26. PMID 8863730
    4. Lactaptin is a human milk protein inducing apoptosis of MCF-7 adenocarcinoma cells. Nekipelaya VV, et al. Dokl Biochem Biophys, 2008 Mar-Apr. PMID 18505157
    5. Preparation and amino acid sequence of human kappa-casein. Brignon G, et al. FEBS Lett, 1985 Aug 19. PMID 4018271

    See all (31) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. CSN3 was found to contain an interesting coding polymorphism as well as containing excess rare variation as compared with the other genes evaluated in cerebral ischemia patients.
      Title: Rare variants in ischemic stroke: an exome pilot study.
    2. human milk plasma protein exterts an apoptotic effect on MCF-7 adenocarcinoma cells.
      Title: Lactaptin is a human milk protein inducing apoptosis of MCF-7 adenocarcinoma cells.
    3. Observational study of gene-disease association. (HuGE Navigator)
      Title: Identification of novel candidate genes for type 2 diabetes from a genome-wide association scan in the Old Order Amish: evidence for replication from diabetes-related quantitative traits and from independent populations.
    4. The recombinant Caseinomacropeptide (hCMP)has been produced as a secretory product in yeast and was estimated to be 7.0kDa by SDS-PAGE, and showed a lower glycosylation than the natural bovine CMP.
      Title: Purification and characterization of human caseinomacropeptide produced by a recombinant Saccharomyces cerevisiae.
    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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    Homology

    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 lactation IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in lactation IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in protein stabilization IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in protein stabilization IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    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
    		  
    located_in extracellular space IDA
    Inferred from Direct Assay
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    kappa-casein

    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_001394997.1 → NP_001381926.1  kappa-casein precursor

      Status: VALIDATED

      Source sequence(s)
      AC105347
      Consensus CDS
      CCDS3538.1
      UniProtKB/Swiss-Prot
      P07498, Q13575
      Related
      ENSP00000304822.3, ENST00000304954.4
      Conserved Domains (1) summary
      pfam00997
      Location:21 → 171
      Casein_kappa; Kappa casein

    2. NM_005212.3 → NP_005203.2  kappa-casein precursor

      See identical proteins and their annotated locations for NP_005203.2

      Status: VALIDATED

      Source sequence(s)
      AC105347, BG191674, X66417
      Consensus CDS
      CCDS3538.1
      UniProtKB/Swiss-Prot
      P07498, Q13575
      Conserved Domains (1) summary
      pfam00997
      Location:21 → 171
      Casein_kappa; Kappa casein

    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
      70238381..70251432
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017007761.2 → XP_016863250.1  kappa-casein isoform X1

      UniProtKB/Swiss-Prot
      P07498, Q13575
      Related
      ENSP00000508633.1, ENST00000689459.1
      Conserved Domains (1) summary
      pfam00997
      Location:21 → 171
      Casein_kappa; Kappa casein

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060928.1 Alternate T2T-CHM13v2.0

      Range
      73578064..73590918
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054348974.1 → XP_054204949.1  kappa-casein isoform X1

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    P07498.3 GenPept UniProtKB/Swiss-Prot:P07498

    Gene LinkOut

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

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