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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
  • S100A 3 4
  • S100 Protein, Alpha Polypeptide 3
  • Protein S100-A1 3
  • S100 Alpha 3
  • S100-Alpha 3
  • 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 Myoepithelioma and Malignant Peripheral Nerve Sheath Tumor. Among its related pathways are Innate Immune System and Activated TLR4 signalling. Gene Ontology (GO) annotations related to this gene include calcium ion binding and identical protein binding. An important paralog of this gene is S100Z.

UniProtKB/Swiss-Prot 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

Additional gene information for S100A1 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for S100A1 Gene

Genomics for S100A1 Gene

GeneHancer (GH) Regulatory Elements for S100A1 Gene

Promoters and enhancers for S100A1 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH01I153626 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE 600.2 +1.1 1084 5.8 PKNOX1 CLOCK FOXA2 ARID4B SIN3A POLR2B ZNF766 ZNF143 DEK ZNF263 S100A1 GC01P153628 S100A13 NUP210L CHTOP ENSG00000271853 ENSG00000272030
GH01I153632 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 55.1 +7.0 7007 4.4 HDGF PKNOX1 CLOCK FOXA2 SMAD1 ARNT ARID4B SIN3A DMAP1 ZNF2 CHTOP ENSG00000271853 ENSG00000272030 S100A13 S100A1 CRTC2 UBAP2L SLC27A3 INTS3 ILF2
GH01I153606 Promoter/Enhancer 2.7 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 35 -15.5 -15467 11.6 HDGF PKNOX1 CLOCK FOXA2 MLX ARID4B NEUROD1 SIN3A DMAP1 ZBTB7B S100A16 S100A14 S100A1 SNAPIN ILF2 ENSG00000233222 ENSG00000243613 INTS3 S100A13 ENSG00000272030
GH01I153669 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 31.5 +43.1 43143 3.1 PKNOX1 SMAD1 ARNT ARID4B SIN3A DMAP1 ZNF2 YY1 POLR2B ZNF213 ILF2 PIR54436 PIR58220 TRX-CAT1-1 S100A1 UBAP2L CHTOP CREB3L4 INTS3
GH01I153657 Promoter/Enhancer 2 EPDnew Ensembl ENCODE 23.7 +31.0 31038 2.1 PKNOX1 ARNT ZFP64 ARID4B SIN3A DMAP1 YY1 SLC30A9 POLR2B E2F8 SNAPIN S100A1 CHTOP UBAP2L ILF2 CREB3L4 INTS3 GC01M153662
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around S100A1 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the S100A1 gene promoter:

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)

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). Intreacts 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

No Post-translational modifications

Other Protein References for S100A1 Gene

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

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

GENATLAS Biochemistry:
S100 calcium binding protein A1,epidermal diffentiation complex
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).

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 IPI 10913138
GO:0042803 protein homodimerization activity IDA,IEA 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

miRNA for S100A1 Gene

Clone Products

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
extracellular 5
nucleus 5
endoplasmic reticulum 5
cytosol 4
cytoskeleton 2
plasma membrane 1
mitochondrion 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 NAS,IEA 12804600
GO:0021762 substantia nigra development HEP,IEP 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

(16) Drugs for S100A1 Gene - From: DrugBank, FDA Approved Drugs, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Olopatadine Approved Pharma Target, antagonist 0
calcium Approved Nutra 0
Patanase Approved April 2008 Pharma 0

(12) 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

Unigene Clusters for S100A1 Gene

S100 calcium binding protein A1:
Representative Sequences:

Clone Products

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

No ASD Table

Relevant External Links for S100A1 Gene

GeneLoc Exon Structure for
S100A1
ECgene alternative splicing isoforms for
S100A1

Expression for S100A1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP 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, PaxDb, MaxQB, and MOPED for S100A1 Gene



NURSA nuclear receptor signaling pathways regulating expression of S100A1 Gene:

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(4.7)
  • Skin(4.6)
  • Nervous system(4.6)
  • Muscle(3.9)
  • Kidney(2.7)
  • Thyroid gland(2)
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 33 34
  • 100 (n)
cow
(Bos Taurus)
Mammalia S100A1 33 34
  • 93.62 (n)
dog
(Canis familiaris)
Mammalia S100A1 33
  • 92.91 (n)
-- 34
  • 43 (a)
ManyToMany
rat
(Rattus norvegicus)
Mammalia S100a1 33
  • 89.36 (n)
oppossum
(Monodelphis domestica)
Mammalia S100A1 34
  • 88 (a)
OneToOne
mouse
(Mus musculus)
Mammalia S100a1 33 16 34
  • 87.59 (n)
chicken
(Gallus gallus)
Aves S100A1 33
  • 82.62 (n)
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC101734724 33
  • 71.48 (n)
zebrafish
(Danio rerio)
Actinopterygii s100a1 33 34
  • 67.74 (n)
Species where no ortholog for S100A1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya 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 squirt (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)

Paralogs for S100A1 Gene

Paralogs for S100A1 Gene

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

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

Variants for S100A1 Gene

Sequence variations from dbSNP and Humsavar for S100A1 Gene

SNP ID Clin Chr 01 pos Variation AA Info Type
rs1001120163 -- 153,632,245(+) A/G downstream_transcript_variant
rs1001530344 -- 153,632,397(+) G/A downstream_transcript_variant
rs1001587220 -- 153,632,503(+) C/T downstream_transcript_variant
rs1002348892 -- 153,627,471(+) C/G upstream_transcript_variant
rs1002873600 -- 153,627,293(+) C/T upstream_transcript_variant

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

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

Disorder Aliases PubMed IDs
myoepithelioma
  • benign myoepithelioma
malignant peripheral nerve sheath tumor
  • neurofibrosarcoma
orbital leiomyoma
leiomyoma
  • leiomyomatous neoplasm
gastrointestinal stromal tumor
  • gist
- 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
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 22 58
  2. 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 58
  3. 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 58
  4. 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 58
  5. Solution NMR structure and dynamics of human apo-S100A1 protein. (PMID: 21296671) Nowakowski M … Ejchart A (Journal of structural biology 2011) 3 4 58

Products for S100A1 Gene