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CSN1S1 casein alpha s1 [ Homo sapiens (human) ]

Gene ID: 1446, updated on 23-Nov-2021

Summary

Official Symbol
CSN1S1provided by HGNC
Official Full Name
casein alpha s1provided by HGNC
Primary source
HGNC:HGNC:2445
See related
Ensembl:ENSG00000126545 MIM:115450
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
Expression
Restricted expression toward fat (RPKM 9.4) See more
Orthologs
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Genomic context

See CSN1S1 in Genome Data Viewer
Location:
4q13.3
Exon count:
16
Annotation release Status Assembly Chr Location
109.20211119 current GRCh38.p13 (GCF_000001405.39) 4 NC_000004.12 (69931062..69946574)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 4 NC_000004.11 (70796786..70812292)

Chromosome 4 - NC_000004.12Genomic Context describing neighboring genes 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

Expression

  • 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

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
PubMed 
involved_in response to dehydroepiandrosterone IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in response to estradiol IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in response to progesterone IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Component Evidence Code Pubs
located_in extracellular region TAS
Traceable Author Statement
more info
 
is_active_in extracellular space IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 

General protein information

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_001025104.2NP_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/Swiss-Prot
    P47710
    Related
    ENSP00000422611.1, ENST00000507763.5
  2. NM_001890.2NP_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
    P47710
    Related
    ENSP00000246891.4, ENST00000246891.9

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20211119

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000004.12 Reference GRCh38.p13 Primary Assembly

    Range
    69931062..69946574
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_006714090.2XP_006714153.1  alpha-S1-casein isoform X2

    UniProtKB/Swiss-Prot
    P47710
    Related
    ENSP00000426684.1, ENST00000505782.5
  2. XM_006714089.2XP_006714152.1  alpha-S1-casein isoform X1

    UniProtKB/Swiss-Prot
    P47710
  3. XM_006714091.2XP_006714154.1  alpha-S1-casein isoform X3

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