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FLASH GENE
Symbol S100A1 contributors: mct - updated : 10-02-2016
HGNC name S100 calcium binding protein A1
HGNC id 10486
Location 1q21.3      Physical location : 153.600.872 - 153.604.513
Synonym name
  • S100 protein, alpha polypeptide
  • S-100 protein alpha subunit
  • S100-alpha
  • Synonym symbol(s) S100, S100A
    DNA
    TYPE functioning gene
    SPECIAL FEATURE component of a cluster
    STRUCTURE 3.64 kb     3 Exon(s)
    Genomic sequence alignment details
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned Y linked N status confirmed
    Physical map
    SPRR2C 1q21 small proline-rich protein 2C LOC149018 1q22 hypothetical LOC149018 LOC391102 1 similar to 60S acidic ribosomal protein P0 (L10E) LOR 1q21 loricrin PGLYRPIalpha 1q21 peptidoglycan recognition protein-I-alpha precursor PGLYRPIbeta 1q21 peptidoglycan recognition protein-I-beta precursor S100A9 1q21 S100 calcium binding protein A9 (calgranulin B) S100A12 1q21 S100 calcium binding protein A12 (calgranulin C) LOC391103 1 similar to lysosomal-associated transmembrane protein 4 beta; putative integral membrane transporter S100A8 1q21 S100 calcium binding protein A8 (calgranulin A) S100A15 1q22 S100 calcium binding protein A15 S100A7L2 1q22 S100 calcium binding protein A7-like 2 S100A7 1q21 S100 calcium binding protein A7 (psoriasin 1) S100A6 1q21 S100 calcium binding protein A6 (calcyclin) S100A5 1q21 S100 calcium binding protein A5 S100A4 1q21 S100 calcium binding protein A4 (calcium protein, calvasculin, metastasin, murine placental homolog) LOC388700 1 hypothetical gene supported by BT006955; NM_002960 S100A2 1q21 S100 calcium binding protein A2 S100A1 1q21 S100 calcium binding protein A1 DKFZP547E1010 1q22 DKFZP547E1010 protein SNAPAP 1q22 SNAP-associated protein ILF2 1q21.1 interleukin enhancer binding factor 2, 45kDa NPR1 1q21.1 natriuretic peptide receptor A/guanylate cyclase A (atrionatriuretic peptide receptor A) FLJ21919 1q22 hypothetical protein FLJ21919 SLC27A3 1q21.1 solute carrier family 27 (fatty acid transporter), member 3 LOC343052 1q22 similar to putative neuronal cell adhesion molecule P66beta 1q22 transcription repressor p66 beta component of the MeCP1 complex KIAA0476 1p36.13-q31.3 transcription repressor p66 beta component of the MeCP1 complex LOC200186 1q22 hypothetical protein LOC200186 SLC39A1 1q21 solute carrier family 39 (zinc transporter), member 1 CREB3L4 1q21.2 cAMP responsive element binding protein 3-like 4 JTB 1q21 jumping translocation breakpoint RAB13 12q13 RAB13, member RAS oncogene family RPS27 1q21 ribosomal protein S27 (metallopanstimulin 1) LOC91181 1q22 nuclear pore membrane glycoprotein 210-like
    regionally located clustered with other S100Ax genes on 1q21
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    3 - 607 10.5 94 - 2007 17512776
    EXPRESSION
    Type
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Cardiovascularheart   predominantly Homo sapiens
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Connectivecartilage    Homo sapiens
    Muscularstriatumcardiac predominantly Homo sapiens
    cells
    SystemCellPubmedSpeciesStageRna symbol
    Cardiovascularendothelial cell Homo sapiens
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • two calcium binding domains with an EF-hand motif
  • one S100 specific Nter
  • one classical at the C terminus with an extension implicated in the recognition of GFAP, tubulin, TP53
  • mono polymer homomer , heteromer , dimer
    HOMOLOGY
    Homologene
    FAMILY
  • EF-hand family
  • CATEGORY chaperone/stress
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,organelle,endoplasmic reticulum
    intracellular,nucleus
    text sarcoplasmic reticulum, contractile filaments of heart
    basic FUNCTION
  • stimulatun of Ca2+ induced Ca2+ release
  • Ca(2+)-sensing protein regulator of myocardial contractility, playing a pivotal role in cardiac contractility
  • might play a key role in cardiac energy metabolism
  • potent molecular chaperone antagonized by calmodulin antagonists
  • enhancer of cardiac Ca2+ release and contractility
  • playing a significant role in skeletal muscle excitation-contraction coupling, primarily through specific interactions with a conserved binding domain of the ryanodine receptor
  • association of S100A1, and to a lesser extent S100B, with the human articular chondrocytes (HAC) differentiated phenotype
  • S100A1 and S100B are dispensable for endochondral ossification during skeletal development, most likely because their deficiency may be masked by other S100 proteins which have similar functions
  • plays a crucial role in hypoxia-induced inflammatory response in cardiomyocytes
  • CELLULAR PROCESS cell life, differentiation
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
  • constituent of epidermal diffentiation
  • dimerizing with a S100A or a S100B chain
  • member of the multichaperone complex
  • INTERACTION
    DNA
    RNA
    small molecule metal binding,
  • Ca2+
  • Zn2+
  • protein
  • inhibiting PRKC mediated phosphorylation
  • transcriptional target of the SOX trio (SOX5, SOX6, SOX9) and mediate its inhibition of terminal differentiation of chondrocytes
  • interaction of S100A1 with mitochondrial F(1)-ATPase, which affects F(1)-ATPase activity and cellular ATP production
  • with S100A2, S100A4 and S100A6, interacting with MDM2, making the binding to MDM2 a general feature of S100 proteins
  • S100A1 and CALM1 bind to an overlapping domain on the ryanodine receptor type 1 to tune the Ca2+ release process, and thereby regulate skeletal muscle function
  • S100A1, S100A2, S100A6, and S100B proteins specifically interact with PPP5C-tetratricopeptide repeat (TPR) domain
  • CALM1 and S100A1 serve as important regulators of TRPM3, which is known to play an important role in Ca2+ homeostasis
  • S100A1 protein binds the same regions with equal affinity on the TRPM3 N terminus to CALM1
  • involvement of three basic residues in the integrative overlapping binding site for S100A1 on the C tail of TRPC6
  • S100A1 competes with CALM1 and INP5JJ for binding site on the C-terminus of the TPRV1 receptor
  • CALM1 and S100A1 can concurrently bind to and functionally modulate RYR1 and RYR2, but this does not involve direct competition at the RYR CALM binding site
  • interaction between stress-inducible phosphoprotein 1 (STIP1) and S100A1
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    constitutional     --low  
    in cardiomyopathies
    constitutional        
    results in pulmonary hypertension (PH), by disruption of its normal capacity to enhance pulmonary endothelial cell function
    constitutional     --low  
    in failing hearts
    constitutional     --low  
    suppresses physiological AP-induced Ca(2+) release flux, resulting in impaired contractile activation and force production in skeletal muscle
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
  • S100A1 and S100B expression are marker to develop potency assays for cartilage regeneration cell therapies
  • Therapy target
    SystemTypeDisorderPubmed
    neuromuscularmyopathy 
    therapeutic target for the treatment of both cardiac and skeletal myopathies
    cardiovascularcardiomyopathy 
    cardiovascular  
    ability of exogenously administered S100A1 makes it an attractive therapeutic target in the treatment of Pulmonary hypertension (PMID: 25395393)
    ANIMAL & CELL MODELS
  • ATP synthase activity is reduced in cardiomyocytes from S100a1 knockout mice
  • mice deficient of both the S100a1 and S100b genes displayed normal skeletal growth from embryonic stage to adulthood
  • S100a1-knock-out mice (KO) exhibited increased right ventricular (RV) weight/body weight ratio and elevated RV pressure in the absence of altered left ventricular filling pressures, accompanied by increase in wall thickness of muscularized pulmonary arteries and a reduction in microvascular perfusion