S100a1 S100 calcium binding protein A1 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: S100a1provided by MGI
Official Full Name: S100 calcium binding protein A1provided by MGI
Primary source: MGI:MGI:1338917
See related: Ensembl:ENSMUSG00000044080 AllianceGenome:MGI:1338917
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: S100; S100a
Summary: Predicted to enable several functions, including ATPase binding activity; S100 protein binding activity; and protein homodimerization activity. Predicted to be involved in several processes, including positive regulation of nitric-oxide synthase activity; positive regulation of sprouting angiogenesis; and positive regulation of voltage-gated calcium channel activity. Located in sarcoplasmic reticulum. Is expressed in several structures, including brain; heart; inner ear; musculature; and yolk sac. Orthologous to human S100A1 (S100 calcium binding protein A1). [provided by Alliance of Genome Resources, Apr 2022]
Expression: Broad expression in heart adult (RPKM 436.8), kidney adult (RPKM 243.2) and 17 other tissues See more
Orthologs: human all
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Genomic context

Location:: 3 F1; 3 39.24 cM

Exon count:: 3

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	3	NC_000069.7 (90418341..90421637, complement)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	3	NC_000069.6 (90511034..90514330, complement)

Chromosome 3 - NC_000069.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: Mouse ENCODE transcriptome data
Description: RNA profiling data sets generated by the Mouse ENCODE project.
BioProject: PRJNA66167
Publication: PMID 25409824
Analysis date: n/a

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

S100A1 expression characterizes terminally differentiated superficial cells in the urothelium of the murine bladder and ureter.
Title: S100A1 expression characterizes terminally differentiated superficial cells in the urothelium of the murine bladder and ureter.
Understanding Calcium-Dependent Conformational Changes in S100A1 Protein: A Combination of Molecular Dynamics and Gene Expression Study in Skeletal Muscle.
Title: Understanding Calcium-Dependent Conformational Changes in S100A1 Protein: A Combination of Molecular Dynamics and Gene Expression Study in Skeletal Muscle.
Data (including data from studies using knockout mice) suggest that S100A1 (S-100 calcium-binding protein A1, alpha chain) is involved in protein kinase A- (RIIalpha and RIIbeta)-dependent signaling resulting in nuclear redistribution/influx of HDAC4 (histone deacetylase 4) in skeletal muscle fibers.
Title: The Activation of Protein Kinase A by the Calcium-Binding Protein S100A1 Is Independent of Cyclic AMP.
S100A1-KO exhibited increased right ventricular (RV) weight and elevated RV pressure in the absence of altered left ventricular filling pressures, increase in wall thickness of muscularized pulmonary arteries and a reduction in microvascular perfusion.
Title: Absence of the calcium-binding protein, S100A1, confers pulmonary hypertension in mice associated with endothelial dysfunction and apoptosis.
S100A1 and S100B are dispensable for endochondral ossification during skeletal development.
Title: S100A1 and S100B are dispensable for endochondral ossification during skeletal development.
S100A1 ablationalso reduced plaque associated and increased non-plaque associated PO4-Akt and PO4-GSK3beta staining.
Title: The Ca2+ sensor S100A1 modulates neuroinflammation, histopathology and Akt activity in the PSAPP Alzheimer's disease mouse model.
Patients with acute myocardial infarction (MI) showed significantly increased S100A1 serum levels. Experimental MI in mice induced comparable S100A1 release. S100A1 signaling in cardiac fibroblasts occurs through endosomal TLR4/MyD88.
Title: S100A1 is released from ischemic cardiomyocytes and signals myocardial damage via Toll-like receptor 4.
hypoxia-induced MiR-138 is an essential mediator of EC dysfunction via its ability to target the 3'UTR of S100A1.
Title: MicroRNA-138 regulates hypoxia-induced endothelial cell dysfunction by targeting S100A1.
Report downregulation of S100A1 expression in critical limb ischemia impairs postischemic angiogenesis via compromised proangiogenic endothelial cell function and nitric oxide synthase regulation.
Title: S100A1 deficiency impairs postischemic angiogenesis via compromised proangiogenic endothelial cell function and nitric oxide synthase regulation.
S100A1 and calmodulin bind to an overlapping domain on the ryanodine receptor type 1 to tune the Ca2+ release process, and thereby regulate skeletal muscle function. (Review)
Title: S100A1 and calmodulin regulation of ryanodine receptor in striated muscle.

Submit: New GeneRIF Correction See all GeneRIFs (26)

Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Endonuclease-mediated (1)
Gene trapped (2) 1 citation
Targeted (2) 1 citation

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

GDB:625834 (e-PCR)
- UniSTS:158371

S100a1 (e-PCR), detects polymorphism
- UniSTS:499111

AI266795 (e-PCR)
- UniSTS:178888

NoName (e-PCR)
- UniSTS:234742

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables ATPase binding	ISO Inferred from Sequence Orthology more info
enables S100 protein binding	IBA Inferred from Biological aspect of Ancestor more info
enables S100 protein binding	ISO Inferred from Sequence Orthology more info
enables calcium ion binding	IBA Inferred from Biological aspect of Ancestor more info
enables calcium ion binding	ISO Inferred from Sequence Orthology more info
enables calcium-dependent protein binding	IBA Inferred from Biological aspect of Ancestor more info
enables calcium-dependent protein binding	ISO Inferred from Sequence Orthology more info
enables identical protein binding	ISO Inferred from Sequence Orthology more info
enables metal ion binding	IEA Inferred from Electronic Annotation more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein homodimerization activity	ISO Inferred from Sequence Orthology more info

Process	Evidence Code	Pubs
involved_in negative regulation of transcription by RNA polymerase II	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of nitric-oxide synthase activity	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of sprouting angiogenesis	ISO Inferred from Sequence Orthology more info
involved_in regulation of heart contraction	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
located_in A band	ISO Inferred from Sequence Orthology more info
located_in Golgi apparatus	ISO Inferred from Sequence Orthology more info
located_in I band	ISO Inferred from Sequence Orthology more info
located_in M band	ISO Inferred from Sequence Orthology more info
located_in Z disc	ISO Inferred from Sequence Orthology more info
is_active_in cytoplasm	IBA Inferred from Biological aspect of Ancestor more info
located_in cytosol	ISO Inferred from Sequence Orthology more info
located_in mitochondrion	IEA Inferred from Electronic Annotation more info
located_in nucleoplasm	ISO Inferred from Sequence Orthology more info
located_in nucleus	ISO Inferred from Sequence Orthology more info
is_active_in sarcoplasmic reticulum	IBA Inferred from Biological aspect of Ancestor more info
located_in sarcoplasmic reticulum	IDA Inferred from Direct Assay more info	PubMed
located_in sarcoplasmic reticulum	ISO Inferred from Sequence Orthology more info

General protein information

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Preferred Names: protein S100-A1

Names: S-100 protein alpha chain; S-100 protein subunit 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_011309.3 → NP_035439.1 protein S100-A1

See identical proteins and their annotated locations for NP_035439.1

Status: VALIDATED

Source sequence(s)

AK012578, AK168822

Consensus CDS

CCDS38503.1

UniProtKB/Swiss-Prot

O88949, P56565

UniProtKB/TrEMBL

Q91V77, Q9D3M4

Related

ENSMUSP00000058237.9, ENSMUST00000060738.9

Conserved Domains (2) summary

cd05025
Location:2 → 92

S-100A1; S-100A1: S-100A1 domain found in proteins similar to S100A1. S100A1 is a calcium-binding protein belonging to a large S100 vertebrate-specific protein family within the EF-hand superfamily of calcium-binding proteins. Note that the S-100 hierarchy, to ...

pfam13499
Location:28 → 76

EF-hand_7; EF-hand domain pair