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CSN3 casein kappa [ Homo sapiens (human) ]

Gene ID: 1448, updated on 5-Mar-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, Apr 2022]
Expression
Restricted expression toward salivary gland (RPKM 13.6) See more
Orthologs
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Genomic context

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Location:
4q13.3
Exon count:
6
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 4 NC_000004.12 (70238381..70251432)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 4 NC_060928.1 (73578064..73590918)
105.20220307 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. Rare variants in ischemic stroke: an exome pilot study. Cole JW, et al. PLoS One, 2012. PMID 22536414, Free PMC Article
  2. 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
  3. 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
  4. Structure of the human kappa-casein gene. Edlund A, et al. Gene, 1996 Sep 26. PMID 8863730
  5. Localisation and importance of the sugar part of human casein. Fiat AM, et al. Eur J Biochem, 1980 Oct. PMID 7460900

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)

Genotypes

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 molecular_function ND
No biological Data available
more info
  
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_2023_10

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

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