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FLASH GENE
Symbol S100A6 contributors: mct/npt - updated : 24-12-2012
HGNC name S100 calcium binding protein A6
HGNC id 10496
Location 1q21.3      Physical location : 153.507.075 - 153.508.717
Synonym name
  • S100 calcium binding protein A6 (calcyclin)
  • prolactin receptor associated protein
  • calcyclin
  • growth factor-inducible protein 2A9
  • Synonym symbol(s) CACY, CABP, 2A9, PRA, 5B10
    DNA
    TYPE functioning gene
    SPECIAL FEATURE component of a cluster
    STRUCTURE 1.64 kb     3 Exon(s)    1 Copie(s)
    Genomic sequence alignment details
    10 Kb 5' upstream gene genomic sequence study
    regulatory sequence Promoter (TATA box)
    cytosine-phosphate-guanine/HTF
    Binding site   transcription factor
    text structure a basic promoter, including a TATA homology, GC boxes, and an enhancer-like sequence, essential for transcription spanning 167 bp upstream of transcription initiation, in cardiac myocytes, cardiac derived fibroblasts, and aortic smooth muscle cells
  • an NF-kB-binding site at position -460/-451 points to the potential role of inflammatory processes in activation of the gene
  • transcriptional regulation of the promoter is complex and involves common and cell-specific positive and negative upstream regulatory elements
  • MAPPING cloned Y linked N status confirmed
    Map see EDC@
    Physical map
    SPRR1B 1q21 small proline-rich protein 1B (cornifin) SPRR2A 1q21 small proline-rich protein 2A SPRR2B 1q21 small proline-rich protein 2B 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
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    3 - 683 10.5 90 - 2007 18753141
    EXPRESSION
    Type ubiquitous
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Cardiovascularheart   lowly
    Digestiveintestinelarge intestinecolon lowly
     stomach   lowly
    Endocrinepancreas   lowly
    Lymphoid/Immunelymph node   lowly
    Nervousbrain   lowly
    Reproductivefemale systemovary  lowly
    Respiratorylung   lowly
    Urinarykidney   lowly
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Connectivedensetendon  
    Muscularsmooth  lowly
    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 N-terminus
  • one classical C-terminus
  • ICaBP type calcium binding domain
  • HOMOLOGY
    Homologene
    FAMILY
  • S100 family of EF-hand, calcium-binding proteins
  • CATEGORY signaling cytokine , receptor
    SUBCELLULAR LOCALIZATION extracellular
        intracellular
    intracellular,cytoplasm,cytosolic
    intracellular,nuclear envelope,ext
    text
  • in primary human endothelial cells, S100A6 was present in both the nucleus and the cytoplasm
  • basic FUNCTION
  • may be playing a role in stimulation of Ca2+-dependent insulin release,stimulation of prolactin secretion and exocytosis
  • growth-regulated gene inducible by growth factors, having a functional role in tumor necrosis factor-alpha-induced myocyte apoptosis
  • linked with cell cycle progression, cytoskeleton rearrangement, exocytosis, and cell survival
  • may be involved in cell proliferation, cytoskeletal dynamics and tumorigenesis
  • regulates a spectrum of growth and differentiation properties in cardiac muscle, in keeping with its role in cell cycle progression in proliferating cell lineages
  • involvement of this protein in intra- and extra-cellular signalling pathways in the umbilical cord
  • small EF-hand calcium- and zinc-binding protein involved in the regulation of cell proliferation and cytoskeletal dynamics
  • has an important role in regulating endothelial commitment to, and progression through, the cell cycle
  • CELLULAR PROCESS cell cycle
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    component of the pro-survival pathway activated by TNF- alpha and provides a homeostatic mechanism to limit TNF-alpha-induced myocyte apoptosis by interfering with TP53 phosphorylation
    a component
  • constituent of epidermal differentiation complex
  • INTERACTION
    DNA
    RNA
    small molecule metal binding,
  • Ca2+
  • protein
  • increase in intracellular concentration of Ca(2+), transduced by S100A6, is necessary for nuclear translocation of the SUGT1 protein
  • with S100A2, S100A4 and S100A1, interacting with MDM2, making the binding to MDM2 a general feature of S100 proteins
  • S100A6-SUGT1 dephosphorylation promotes its nuclear translocation, most likely due to disruption of the SUGT1-HSP90AA1 complex
  • S100A1, S100A2, S100A6, and S100B proteins specifically interact with PPP5C-tetratricopeptide repeat (TPR) domain
  • cell & other
    REGULATION
    activated by TNFalpha- signaling via NF-kB
    induced by tumor necrosis factor-alpha via an NF-kB-dependent mechanism, serving a role in homeostasis to limit tumor necrosis factor-alpha-induced apoptosis by regulating TP53 phosphorylation
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    tumoral     --over  
    in primary colorectal adenocarcinomas with liver metastases
    tumoral     --over  
    in osteosarcoma cells loss of its expression correlates with a metastatic phenotype
    constitutional     --over  
    overexpressed in neurodegenerative disorders and a proposed marker for Amyotrophic Lateral Sclerosis (ALS)
    constitutional       gain of function
    upregulation of astrocytic S100A6 in response to extracellular glutamate may be involved in neuronal damage under pathophysiological conditions
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
  • proposed marker for Amyotrophic Lateral Sclerosis (ALS)
  • Therapy target
    SystemTypeDisorderPubmed
    cancerdigestiveliver
    with SPP1, may be promising diagnostic markers and therapeutic targets for hepatocellular carcinoma
    ANIMAL & CELL MODELS