CSN1S1 casein alpha s1 [Homo sapiens (human)] - Gene

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; 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, Nov 2024]
Expression: Restricted expression toward fat (RPKM 9.4) See more
Orthologs: mouse all
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Genomic context

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_000004.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues 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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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.
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.
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.
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

NoName (e-PCR)
- UniSTS:483102

SHGC-68166 (e-PCR)
- UniSTS:92483

RH91651 (e-PCR)
- UniSTS:83837

STS-X78416 (e-PCR)
- UniSTS:68806

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 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: 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)

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
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