The protein encoded by this gene is a member of the S100 family of proteins containing 2 EF-hand calcium-binding motifs. S100 proteins are localized in the cytoplasm and/or nucleus of a wide range of cells, and involved in the regulation of a number of cellular processes such as cell cycle progression and differentiation. S100 genes include at least 13 members which are located... See more...

Aliases for S100A1 Gene

Aliases for S100A1 Gene

  • S100 Calcium Binding Protein A1 2 3 5
  • S100 Calcium-Binding Protein A1 2 4
  • S-100 Protein Subunit Alpha 3 4
  • S-100 Protein Alpha Chain 3 4
  • Protein S100-A1 3 4
  • S100-Alpha 2 3
  • S100A 3 4
  • S100 Protein, Alpha Polypeptide 3
  • S100 Alpha 3
  • S100A1 5
  • S100 3

External Ids for S100A1 Gene

Previous HGNC Symbols for S100A1 Gene

  • S100A

Previous GeneCards Identifiers for S100A1 Gene

  • GC01P151365
  • GC01P149331
  • GC01P150376
  • GC01P150817
  • GC01P150414
  • GC01P151867
  • GC01P153600
  • GC01P124964

Summaries for S100A1 Gene

Entrez Gene Summary for S100A1 Gene

  • The protein encoded by this gene is a member of the S100 family of proteins containing 2 EF-hand calcium-binding motifs. S100 proteins are localized in the cytoplasm and/or nucleus of a wide range of cells, and involved in the regulation of a number of cellular processes such as cell cycle progression and differentiation. S100 genes include at least 13 members which are located as a cluster on chromosome 1q21. This protein may function in stimulation of Ca2+-induced Ca2+ release, inhibition of microtubule assembly, and inhibition of protein kinase C-mediated phosphorylation. Reduced expression of this protein has been implicated in cardiomyopathies. [provided by RefSeq, Jul 2008]

GeneCards Summary for S100A1 Gene

S100A1 (S100 Calcium Binding Protein A1) is a Protein Coding gene. Diseases associated with S100A1 include Epidermoid Cysts and Myoepithelioma. Among its related pathways are Activated TLR4 signalling and Innate Immune System. Gene Ontology (GO) annotations related to this gene include calcium ion binding and identical protein binding. An important paralog of this gene is S100B.

UniProtKB/Swiss-Prot Summary for S100A1 Gene

  • Probably acts as a Ca(2+) signal transducer (PubMed:22399290). In response to an increase in intracellular Ca(2+) levels, binds calcium which triggers a conformational change (PubMed:23351007). This conformational change allows interaction of S1001A with specific target proteins, such as TPR-containing proteins, and the modulation of their activity (PubMed:22399290).

Gene Wiki entry for S100A1 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for S100A1 Gene

Genomics for S100A1 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for S100A1 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around S100A1 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for S100A1

Top Transcription factor binding sites by QIAGEN in the S100A1 gene promoter:
  • AREB6
  • Brachyury
  • CREB
  • deltaCREB
  • FOXD1
  • FOXJ2
  • FOXJ2 (long isoform)
  • Ik-1
  • MIF-1
  • MyoD

Genomic Locations for S100A1 Gene

Genomic Locations for S100A1 Gene
chr1:153,627,926-153,632,039
(GRCh38/hg38)
Size:
4,114 bases
Orientation:
Plus strand
chr1:153,600,402-153,604,513
(GRCh37/hg19)
Size:
4,112 bases
Orientation:
Plus strand

Genomic View for S100A1 Gene

Genes around S100A1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
S100A1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for S100A1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for S100A1 Gene

Proteins for S100A1 Gene

  • Protein details for S100A1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P23297-S10A1_HUMAN
    Recommended name:
    Protein S100-A1
    Protein Accession:
    P23297
    Secondary Accessions:
    • B2R5D9
    • Q5T7Y3

    Protein attributes for S100A1 Gene

    Size:
    94 amino acids
    Molecular mass:
    10546 Da
    Quaternary structure:
    • Dimer of either two alpha chains, or two beta chains, or one alpha and one beta chain (PubMed:21296671). Also forms heterodimers with S100P (PubMed:15171681). Interacts with AGER (By similarity). Interacts with CAPZA1 (By similarity). Interacts with FKBP4 (PubMed:20188096). Interacts with RYR1 and RYR2 (PubMed:18650434). Interacts with CACYBP in a calcium-dependent manner (PubMed:12042313). Interacts with PPP5C (via TPR repeats); the interaction is calcium-dependent and modulates PPP5C activity (PubMed:22399290).
    Miscellaneous:
    • Able to bind zinc in vitro; the binding sites are different from the calcium binding sites. The physiological relevance of zinc binding is unclear. Physiological concentrations of potassium antagonize the binding of both divalent cations, especially affecting the high-affinity calcium-binding sites.

    Three dimensional structures from OCA and Proteopedia for S100A1 Gene

neXtProt entry for S100A1 Gene

Post-translational modifications for S100A1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for S100A1 Gene

Antibody Products

Protein Products

No data available for DME Specific Peptides for S100A1 Gene

Domains & Families for S100A1 Gene

Gene Families for S100A1 Gene

HGNC:
Human Protein Atlas (HPA):
  • Cancer-related genes
  • Plasma proteins
  • Predicted intracellular proteins
  • Transporters

Protein Domains for S100A1 Gene

InterPro:
Blocks:
  • Calcium-binding protein, S-100/ICaBP type
ProtoNet:

Suggested Antigen Peptide Sequences for S100A1 Gene

GenScript: Design optimal peptide antigens:
  • cDNA, FLJ92437, Homo sapiens S100 calcium binding protein A1 (S100A1), mRNA (B2R5D9_HUMAN)
  • S100 calcium binding protein A1, isoform CRA_a (Q5T7Y6_HUMAN)
  • S100 calcium-binding protein A1 (S10A1_HUMAN)

Graphical View of Domain Structure for InterPro Entry

P23297

UniProtKB/Swiss-Prot:

S10A1_HUMAN :
  • Belongs to the S-100 family.
Family:
  • Belongs to the S-100 family.
genes like me logo Genes that share domains with S100A1: view

Function for S100A1 Gene

Molecular function for S100A1 Gene

UniProtKB/Swiss-Prot Function:
Probably acts as a Ca(2+) signal transducer (PubMed:22399290). In response to an increase in intracellular Ca(2+) levels, binds calcium which triggers a conformational change (PubMed:23351007). This conformational change allows interaction of S1001A with specific target proteins, such as TPR-containing proteins, and the modulation of their activity (PubMed:22399290).
GENATLAS Biochemistry:
S100 calcium binding protein A1,epidermal diffentiation complex

Phenotypes From GWAS Catalog for S100A1 Gene

Gene Ontology (GO) - Molecular Function for S100A1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005509 calcium ion binding IEA --
GO:0005515 protein binding IPI 10913138
GO:0042802 identical protein binding IEA,IPI 10913138
GO:0042803 protein homodimerization activity IDA 10913138
GO:0044548 S100 protein binding IPI 10913138
genes like me logo Genes that share ontologies with S100A1: view
genes like me logo Genes that share phenotypes with S100A1: view

Animal Models for S100A1 Gene

MGI Knock Outs for S100A1:

Animal Model Products

  • Taconic Biosciences Mouse Models for S100A1

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for S100A1

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for S100A1 Gene

Localization for S100A1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for S100A1 Gene

Cytoplasm.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for S100A1 gene
Compartment Confidence
nucleus 5
endoplasmic reticulum 5
extracellular 4
cytosol 4
plasma membrane 2
cytoskeleton 2
mitochondrion 2
endosome 1
lysosome 1
golgi apparatus 1

Gene Ontology (GO) - Cellular Components for S100A1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region TAS --
GO:0005634 nucleus IDA 12118070
GO:0005737 cytoplasm IEA --
GO:0016529 sarcoplasmic reticulum IDA 12804600
GO:0030018 Z disc IEA --
genes like me logo Genes that share ontologies with S100A1: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for S100A1 Gene

Pathways & Interactions for S100A1 Gene

genes like me logo Genes that share pathways with S100A1: view

Pathways by source for S100A1 Gene

1 Cell Signaling Technology pathway for S100A1 Gene

Gene Ontology (GO) - Biological Process for S100A1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000122 negative regulation of transcription by RNA polymerase II IEA --
GO:0002224 toll-like receptor signaling pathway TAS --
GO:0008016 regulation of heart contraction IEA,NAS 12804600
GO:0021762 substantia nigra development HEP 22926577
GO:0035556 intracellular signal transduction NAS 12804600
genes like me logo Genes that share ontologies with S100A1: view

No data available for SIGNOR curated interactions for S100A1 Gene

Drugs & Compounds for S100A1 Gene

(17) Drugs for S100A1 Gene - From: DrugBank, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Olopatadine Approved Pharma Target, antagonist 0
Calcium Nutra 6556

(10) Additional Compounds for S100A1 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with S100A1: view

Transcripts for S100A1 Gene

mRNA/cDNA for S100A1 Gene

1 REFSEQ mRNAs :
12 NCBI additional mRNA sequence :
5 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for S100A1

Alternative Splicing Database (ASD) splice patterns (SP) for S100A1 Gene

No ASD Table

Relevant External Links for S100A1 Gene

GeneLoc Exon Structure for
S100A1

Expression for S100A1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for S100A1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for S100A1 Gene

This gene is overexpressed in Salivary gland (28.7), Spinal cord (15.1), and Tonsil (7.8).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for S100A1 Gene



Transcriptomic regulation report from SPP (The Signaling Pathways Project) for S100A1

SOURCE GeneReport for Unigene cluster for S100A1 Gene:

Hs.515715

mRNA Expression by UniProt/SwissProt for S100A1 Gene:

P23297-S10A1_HUMAN
Tissue specificity: Highly prevalent in heart. Also found in lesser quantities in skeletal muscle and brain.

Evidence on tissue expression from TISSUES for S100A1 Gene

  • Heart(4.8)
  • Nervous system(4.7)
  • Skin(4.6)
  • Muscle(4)
  • Kidney(3.1)
  • Thyroid gland(2.8)
  • Intestine(2.5)
  • Eye(2.5)
  • Blood(2.1)
genes like me logo Genes that share expression patterns with S100A1: view

No data available for mRNA differential expression in normal tissues , Protein tissue co-expression partners and Phenotype-based relationships between genes and organs from Gene ORGANizer for S100A1 Gene

Orthologs for S100A1 Gene

This gene was present in the common ancestor of chordates.

Orthologs for S100A1 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia S100A1 30 31
  • 100 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia S100A1 30 31
  • 93.62 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia S100A1 30
  • 92.91 (n)
-- 31
  • 43 (a)
ManyToMany
Rat
(Rattus norvegicus)
Mammalia S100a1 30
  • 89.36 (n)
Oppossum
(Monodelphis domestica)
Mammalia S100A1 31
  • 88 (a)
OneToOne
Mouse
(Mus musculus)
Mammalia S100a1 30 17 31
  • 87.59 (n)
OneToOne
Chicken
(Gallus gallus)
Aves S100A1 30
  • 82.62 (n)
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia LOC101734724 30
  • 71.48 (n)
Zebrafish
(Danio rerio)
Actinopterygii s100a1 30 31
  • 67.74 (n)
ManyToMany
Species where no ortholog for S100A1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Baker's yeast (Saccharomyces cerevisiae)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Fruit Fly (Drosophila melanogaster)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Lizard (Anolis carolinensis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Platypus (Ornithorhynchus anatinus)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Squirt (Ciona savignyi)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)
  • Worm (Caenorhabditis elegans)

Evolution for S100A1 Gene

ENSEMBL:
Gene Tree for S100A1 (if available)
TreeFam:
Gene Tree for S100A1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for S100A1: view image

Paralogs for S100A1 Gene

(16) SIMAP similar genes for S100A1 Gene using alignment to 4 proteins:

  • S10A1_HUMAN
  • Q5T7Y4_HUMAN
  • Q5T7Y5_HUMAN
  • Q5T7Y6_HUMAN
genes like me logo Genes that share paralogs with S100A1: view

Variants for S100A1 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for S100A1 Gene

SNP ID Clinical significance and condition Chr 01 pos Variation AA Info Type
725490 Benign: not provided 153,630,581(+) G/A SYNONYMOUS_VARIANT,INTRON_VARIANT

Additional dbSNP identifiers (rs#s) for S100A1 Gene

Variation tolerance for S100A1 Gene

Residual Variation Intolerance Score: 54.9% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.90; 18.78% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for S100A1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
S100A1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Structural Variations from Database of Genomic Variants (DGV) for S100A1 Gene

Disorders for S100A1 Gene

MalaCards: The human disease database

(70) MalaCards diseases for S100A1 Gene - From: DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
epidermoid cysts
  • epidermoid cyst
myoepithelioma
  • benign myoepithelioma
malignant peripheral nerve sheath tumor
  • neurofibrosarcoma
chondromyxoid fibroma
  • fibroma chondromyxoid
intraneural perineurioma
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for S100A1

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
genes like me logo Genes that share disorders with S100A1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for S100A1 Gene

Publications for S100A1 Gene

  1. S100 proteins regulate the interaction of Hsp90 with Cyclophilin 40 and FKBP52 through their tetratricopeptide repeats. (PMID: 20188096) Shimamoto S … Kobayashi R (FEBS letters 2010) 3 4 23
  2. CacyBP/SIP, a calcyclin and Siah-1-interacting protein, binds EF-hand proteins of the S100 family. (PMID: 12042313) Filipek A … Kuznicki J (The Journal of biological chemistry 2002) 3 4 23
  3. Impact of calcium binding and thionylation of S100A1 protein on its nuclear magnetic resonance-derived structure and backbone dynamics. (PMID: 23351007) Nowakowski M … Ejchart A (Biochemistry 2013) 3 4
  4. S100 proteins modulate protein phosphatase 5 function: a link between CA2+ signal transduction and protein dephosphorylation. (PMID: 22399290) Yamaguchi F … Kobayashi R (The Journal of biological chemistry 2012) 3 4
  5. Post-translational S-nitrosylation is an endogenous factor fine tuning the properties of human S100A1 protein. (PMID: 22989881) Lenarčič Živković M … Wysłouch-Cieszyńska A (The Journal of biological chemistry 2012) 3 4

Products for S100A1 Gene

Sources for S100A1 Gene