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S100A1 (S100 calcium binding protein A1)

Written2011-03Brian R Cannon, Danna B Zimmer, David J Weber
University of Maryland, Baltimore, MD, USA (BRC, DJW); Texas A&M University, College Station, TX, USA (DBZ)

(Note : for Links provided by Atlas : click)

Identity

Alias_namesS100A
S100 calcium-binding protein A1
Alias_symbol (synonym)S100-alpha
Other aliasS100
HGNC (Hugo) S100A1
LocusID (NCBI) 6271
Atlas_Id 44149
Location 1q21.3  [Link to chromosome band 1q21]
Location_base_pair Starts at 153628397 and ends at 153632037 bp from pter ( according to hg19-Feb_2009)  [Mapping S100A1.png]
Local_order The S100A1 gene is located at the telomeric end of the 16 member S100A gene cluster on 1q21.3. The S100A1 gene is flanked by the S100A13 (centromeric) and C1orf77 (telomeric) genes.
Fusion genes
(updated 2016)
SNAPIN (1q21.3) / S100A1 (1q21.3)

DNA/RNA

Description The S100A1 gene structure is highly conserved in mammals and contains three exons separated by two introns (Song and Zimmer, 1996; Zimmer et al., 1996; Kiewitz et al., 2000). The first exon encodes the 5' UTR. The second exon encodes the 5' UTR and amino terminal EF hand Ca2+-binding domain. The third exon encodes the carboxy-terminal canonical EF-hand and the 3' UTR. Cis-acting DNA elements that regulate expression in skeletal muscle, neurons, glia and heart have been identified (Song and Zimmer, 1996; Kiewitz et al., 2000). S100A1 transcription in chondrocytes is regulated by the SOX trio of transcription factors, SOX5, SOX6 and SOX9 (Saito et al., 2007).
Transcription The S100A1 protein is encoded in a 594 bp mRNA transcript. Protein products have not been verified for the five splice variants reconstructed from low abundance cDNAs (Ensembl and Aceview).
Pseudogene None.

Protein

 
  Figure 1. Amino acid sequence of the human s100A1 monomer. Residues involved in binding Ca2+ are shown with downward arrows. Elements of secondary structure are indicated.
Description S100A1 is a member of the S100 family of Ca2+-binding proteins. S100A1 exists as a dimer of two identical monomers. Each monomer contains 94 amino acids (figure 1), has a molecular weight of 10546 Da, and contains two EF-hand Ca2+-binding domains (Wright et al., 2005). The non-canonical amino terminal EF-hand contains 14 amino acids and is characteristic of S100 proteins. The carboxy terminal canonical EF-hand contains 12 amino acids and is characteristic of all S100/calmodulin/troponin superfamily members. Like other members of this superfamily, S100A1 possesses no inherent enzymatic activity and exerts its biological effects by interacting with and modulating the activity of target proteins (Zimmer et al., 2003). S100A1 undergoes an ~90 degree rotation of helix 3 upon binding calcium (figure 2), exposing a hydrophobic pocket that serves as the binding site for intracellular and extracellular proteins targets (Landar et al., 1998; Wright et al., 2009b; Zimmer and Weber, 2010). The amino acid sequence linking the two EF-hands confers family member-specific binding for some target proteins (Zimmer and Weber, 2010).
 
  Figure 2. The conformational change of the S100A1 dimer. Upon binding Ca2+, alpha-helix 3 (blue) undergoes an ~90 degree rotation, exposing a hydrophobic binding site that can interact with a variety of biological targets. Here, a peptide derived from ryanodine receptor (RyRPep; red) is shown binding to S100A1 (Wright et al., 2008).
Expression S100 proteins are expressed exclusively in higher chordates in a cell-type and tissue-specific manner (Zimmer et al., 1995; Zimmer et al., 2005). It is the unique complement of S100 family members expressed in individual cells that allows cells to transduce changes in calcium levels into unique biological responses. While there are species-specific differences in S100A1 levels, all species exhibit intermediate to high levels of S100A1 in heart, skeletal muscle, smooth muscle, skin, brain, adipose and kidney (Kato et al., 1986; Zimmer and Van Eldik, 1987; Zimmer et al., 1991; Zimmer et al., 1995; Zimmer et al., 2005; Song and Zimmer, 1996; Kiewitz et al., 2000). Lung, liver, spleen, intestine, testis, thyroid gland, salivary gland, pancreas, ovary, placenta and prostate also contain detectable levels of S100A1 protein/mRNA.
Localisation In non-muscle cells, S100A1 is located in the perinuclear cytoplasm. In muscle cells, S100A1 co-localizes with the sarcolemma, sarcoplasmic reticulum and mitochondria. Extracellular forms of S100A1 have also been detected (Most et al., 2003; Hernández-Ochoa et al., 2009).
Function Like other S100 proteins, S100A1 has been implicated in a variety of biological and cellular processes. S100A1 mediates the suppression of chondrocyte differentiation (Saito et al., 2007). In the nervous system, S100A1 modulates innate fear and exploration of novel stimuli (Ackermann et al., 2006). In neuronal cells, S100A1 regulates cell proliferation, dendrite formation, intracellular calcium levels, microtubule stability, and amyloid precursor protein levels (Zimmer et al., 1995; Zimmer et al., 2005). In ganglion neurons, exogenous S100A1 increases sympathetic output by enhancing L-type calcium channel currents in a PKA-dependent manner (Hernández-Ochoa et al., 2009). In the heart, S100A1 regulation of the ryanodine receptor, SERCA pump and phospholamban alters Ca2+ handling; regulation of titin alters contractile performance; and regulation F1-ATPase alters mitochondrial energy metabolism (Rohde et al., 2010). In skeletal muscle, S100A1 interaction with the ryanodine receptor modulates excitation contraction coupling (Prosser et al., 2008; Wright et al, 2008). In endothelial cells, S100A1 moldulates calcium levels and nitric oxide production (Pleger et al., 2008). Additional S100A1 target proteins include the RAGE receptor, aldolase, annexin A6, the actin-capping protein CAPZA1, desmin, glial fibrillary acidic protein, the 43 kD gap junction protein (GJA1), heat shock proteins, immunophilins (CyP40 and FKBP52) phosphoglucomutase, glycogen phosphorylase kinase, tubulin, the calcyclin binding protein, and other S100s (S100A3, S100A4, S100B, S100P) (Wright et al, 2009b). Two structures of S100A1-target complexes have been characterized using NMR (Wright et al., 2008; Wright et al., 2009a).
Homology Species comparisons
Human - Chimpanzee: 100%
Human - Cow: 99%
Human - Canine: 98%
Human - Rat: 94%
Human - Mouse: 94%

Other S100 family members
Human S100A1 - Human S100A4: 51%
Human S100A1 - Human S100A5: 46%
Human S100A1 - Human S100A7: 24%
Human S100A1 - Human S100A10: 48%
Human S100A1 - Human S100A13: 41%
Human S100A1 - Human S100B: 60%
Human S100A1 - Human S100P: 56%

Mutations

Note No disease-associated mutations in the S100A1 gene have been reported.

Implicated in

Note
  
Entity Melanoma
Note Like other S100 proteins, S100A1 displays altered expression patterns in melanomas. Expression is increased in malignant, relative to benign, melanocytic tumors (Sviatoha et al., 2010) and has been proposed as a possible melanoma biomarker (Nonaka et al., 2008).
  
  
Entity Renal cell carcinoma
Note It has also been observed that renal cell carcinoma is accompanied by increased expression of S100A1 (Teratani et al., 2002). As with melanoma, S100A1 has been proposed as a marker to differentiate between renal cell carcinoma subtypes (Keijser et al., 2006; Li et al., 2007; Yusenko et al., 2009).
  
  
Entity Lung cancer
Note Genomic changes in the S100A1 gene have been reported in lung cancer (Jiang et al., 2010).
  
  
Entity Alzheimer's disease
Note There is evidence suggesting that S100A1 could be involved in Alzheimer's disease (Zimmer et al., 2005). PC12 cells not expressing S100A1 are more resistant to Abeta25-32-induced cell death. Such cells also display a stabilization of intracellular calcium levels similar to that observed in other systems displaying increased resistance to Abeta-induced cell death. These observations suggest that S100A1 antagonists could hinder the progression of Alzheimer's disease.
  
  
Entity Heart disease
Note The importance of S100A1 in cardiac function was hypothesized in light of two early observations - that S100A1 levels are diminished in cardiac tissues from patients with end stage heart failure (Remppis et al., 1996), but increase during pulmonary hypertension leading to myocardial hypertrophy (Ehlermann et al., 2000). S100A1 is now known to modulate excitation-contraction coupling through interactions with the ryanodine receptor, competing for the same binding site occupied by calmodulin (Prosser et al., 2008; Wright et al., 2008). Furthermore, over-expression of S100A1 delays myocardial remodeling, improves contractile performance, and increases survival in response to myocardial infarction (Kraus et al., 2009; Rohde et al., 2010). This protein is now the subject of gene-therapy studies for treating chronic heart failure (Pleger et al., 2007).
  

Bibliography

S100A1-deficient male mice exhibit increased exploratory activity and reduced anxiety-related responses.
Ackermann GE, Marenholz I, Wolfer DP, Chan WY, Schafer B, Erne P, Heizmann CW.
Biochim Biophys Acta. 2006 Nov;1763(11):1307-19. Epub 2006 Sep 6.
PMID 17045663
 
Right ventricular upregulation of the Ca(2+) binding protein S100A1 in chronic pulmonary hypertension.
Ehlermann P, Remppis A, Guddat O, Weimann J, Schnabel PA, Motsch J, Heizmann CW, Katus HA.
Biochim Biophys Acta. 2000 Feb 21;1500(2):249-55.
PMID 10657594
 
Augmentation of Cav1 channel current and action potential duration after uptake of S100A1 in sympathetic ganglion neurons.
Hernandez-Ochoa EO, Prosser BL, Wright NT, Contreras M, Weber DJ, Schneider MF.
Am J Physiol Cell Physiol. 2009 Oct;297(4):C955-70. Epub 2009 Aug 5.
PMID 19657060
 
A panel of sputum-based genomic marker for early detection of lung cancer.
Jiang F, Todd NW, Li R, Zhang H, Fang H, Stass SA.
Cancer Prev Res (Phila). 2010 Dec;3(12):1571-8. Epub 2010 Sep 23.
PMID 20864512
 
S100a0 (alpha alpha) protein: distribution in muscle tissues of various animals and purification from human pectoral muscle.
Kato K, Kimura S, Haimoto H, Suzuki F.
J Neurochem. 1986 May;46(5):1555-60.
PMID 3514794
 
Immunophenotypic markers to differentiate between benign and malignant melanocytic lesions.
Keijser S, Missotten GS, Bonfrer JM, de Wolff-Rouendaal D, Jager MJ, de Keizer RJ.
Br J Ophthalmol. 2006 Feb;90(2):213-7.
PMID 16424536
 
Transcriptional regulation of S100A1 and expression during mouse heart development.
Kiewitz R, Lyons GE, Schafer BW, Heizmann CW.
Biochim Biophys Acta. 2000 Dec 20;1498(2-3):207-19.
PMID 11108964
 
S100A1 in cardiovascular health and disease: closing the gap between basic science and clinical therapy.
Kraus C, Rohde D, Weidenhammer C, Qiu G, Pleger ST, Voelkers M, Boerries M, Remppis A, Katus HA, Most P.
J Mol Cell Cardiol. 2009 Oct;47(4):445-55. Epub 2009 Jun 16. (REVIEW)
PMID 19538970
 
S100A1 utilizes different mechanisms for interacting with calcium-dependent and calcium-independent target proteins.
Landar A, Rustandi RR, Weber DJ, Zimmer DB.
Biochemistry. 1998 Dec 15;37(50):17429-38.
PMID 9860858
 
S100A1: a powerful marker to differentiate chromophobe renal cell carcinoma from renal oncocytoma.
Li G, Barthelemy A, Feng G, Gentil-Perret A, Peoc'h M, Genin C, Tostain J.
Histopathology. 2007 Apr;50(5):642-7.
PMID 17394501
 
Extracellular S100A1 protein inhibits apoptosis in ventricular cardiomyocytes via activation of the extracellular signal-regulated protein kinase 1/2 (ERK1/2).
Most P, Boerries M, Eicher C, Schweda C, Ehlermann P, Pleger ST, Loeffler E, Koch WJ, Katus HA, Schoenenberger CA, Remppis A.
J Biol Chem. 2003 Nov 28;278(48):48404-12. Epub 2003 Sep 6.
PMID 12960148
 
Differential expression of S100 protein subtypes in malignant melanoma, and benign and malignant peripheral nerve sheath tumors.
Nonaka D, Chiriboga L, Rubin BP.
J Cutan Pathol. 2008 Nov;35(11):1014-9. Epub 2008 Jun 10.
PMID 18547346
 
Endothelial S100A1 modulates vascular function via nitric oxide.
Pleger ST, Harris DM, Shan C, Vinge LE, Chuprun JK, Berzins B, Pleger W, Druckman C, Volkers M, Heierhorst J, Oie E, Remppis A, Katus HA, Scalia R, Eckhart AD, Koch WJ, Most P.
Circ Res. 2008 Apr 11;102(7):786-94. Epub 2008 Feb 21.
PMID 18292599
 
Stable myocardial-specific AAV6-S100A1 gene therapy results in chronic functional heart failure rescue.
Pleger ST, Most P, Boucher M, Soltys S, Chuprun JK, Pleger W, Gao E, Dasgupta A, Rengo G, Remppis A, Katus HA, Eckhart AD, Rabinowitz JE, Koch WJ.
Circulation. 2007 May 15;115(19):2506-15. Epub 2007 Apr 30.
PMID 17470693
 
S100A1 binds to the calmodulin-binding site of ryanodine receptor and modulates skeletal muscle excitation-contraction coupling.
Prosser BL, Wright NT, Hernandez-Ochoa EO, Varney KM, Liu Y, Olojo RO, Zimmer DB, Weber DJ, Schneider MF.
J Biol Chem. 2008 Feb 22;283(8):5046-57. Epub 2007 Dec 17.
PMID 18089560
 
Altered expression of the Ca(2+)-binding protein S100A1 in human cardiomyopathy.
Remppis A, Greten T, Schafer BW, Hunziker P, Erne P, Katus HA, Heizmann CW.
Biochim Biophys Acta. 1996 Oct 11;1313(3):253-7.
PMID 8898862
 
S100A1: a multifaceted therapeutic target in cardiovascular disease.
Rohde D, Ritterhoff J, Voelkers M, Katus HA, Parker TG, Most P.
J Cardiovasc Transl Res. 2010 Oct;3(5):525-37. Epub 2010 Jul 20. (REVIEW)
PMID 20645037
 
S100A1 and S100B, transcriptional targets of SOX trio, inhibit terminal differentiation of chondrocytes.
Saito T, Ikeda T, Nakamura K, Chung UI, Kawaguchi H.
EMBO Rep. 2007 May;8(5):504-9. Epub 2007 Mar 30.
PMID 17396138
 
Expression of the rat S100A1 gene in neurons, glia, and skeletal muscle.
Song W, Zimmer DB.
Brain Res. 1996 May 20;721(1-2):204-16.
PMID 8793102
 
Immunohistochemical analysis of the S100A1, S100B, CD44 and Bcl-2 antigens and the rate of cell proliferation assessed by Ki-67 antibody in benign and malignant melanocytic tumours.
Sviatoha V, Tani E, Kleina R, Sperga M, Skoog L.
Melanoma Res. 2010 Apr;20(2):118-25.
PMID 20042890
 
Induced transcriptional expression of calcium-binding protein S100A1 and S100A10 genes in human renal cell carcinoma.
Teratani T, Watanabe T, Kuwahara F, Kumagai H, Kobayashi S, Aoki U, Ishikawa A, Arai K, Nozawa R.
Cancer Lett. 2002 Jan 10;175(1):71-7.
PMID 11734338
 
S100A1: Structure, Function, and Therapeutic Potential.
Wright NT, Cannon BR, Zimmer DB, Weber DJ.
Curr Chem Biol. 2009b May 1;3(2):138-145.
PMID 19890475
 
S100A1 and calmodulin compete for the same binding site on ryanodine receptor.
Wright NT, Prosser BL, Varney KM, Zimmer DB, Schneider MF, Weber DJ.
J Biol Chem. 2008 Sep 26;283(39):26676-83. Epub 2008 Jul 23.
PMID 18650434
 
The three-dimensional solution structure of Ca(2+)-bound S100A1 as determined by NMR spectroscopy.
Wright NT, Varney KM, Ellis KC, Markowitz J, Gitti RK, Zimmer DB, Weber DJ.
J Mol Biol. 2005 Oct 21;353(2):410-26.
PMID 16169012
 
Gene expression profiling of chromophobe renal cell carcinomas and renal oncocytomas by Affymetrix GeneChip using pooled and individual tumours.
Yusenko MV, Zubakov D, Kovacs G.
Int J Biol Sci. 2009 Jul 29;5(6):517-27.
PMID 19680475
 
S100-mediated signal transduction in the nervous system and neurological diseases.
Zimmer DB, Chaplin J, Baldwin A, Rast M.
Cell Mol Biol (Noisy-le-grand). 2005 Sep 5;51(2):201-14.
PMID 16171556
 
Isolation of a rat S100 alpha cDNA and distribution of its mRNA in rat tissues.
Zimmer DB, Song W, Zimmer WE.
Brain Res Bull. 1991 Aug;27(2):157-62.
PMID 1742602
 
Tissue distribution of rat S100 alpha and S100 beta and S100-binding proteins.
Zimmer DB, Van Eldik LJ.
Am J Physiol. 1987 Mar;252(3 Pt 1):C285-9.
PMID 3826357
 
The Calcium-Dependent Interaction of S100B with Its Protein Targets.
Zimmer DB, Weber DJ.
Cardiovasc Psychiatry Neurol. 2010;2010. pii: 728052. Epub 2010 Aug 17.
PMID 20827422
 

Citation

This paper should be referenced as such :
Cannon, BR ; Zimmer, DB ; Weber, DJ
S100A1 (S100 calcium binding protein A1)
Atlas Genet Cytogenet Oncol Haematol. 2011;15(10):873-876.
Free journal version : [ pdf ]   [ DOI ]
On line version : http://AtlasGeneticsOncology.org/Genes/S100A1ID44149ch1q21.html


External links

Nomenclature
HGNC (Hugo)S100A1   10486
Cards
AtlasS100A1ID44149ch1q21
Entrez_Gene (NCBI)S100A1  6271  S100 calcium binding protein A1
AliasesS100; S100-alpha; S100A
GeneCards (Weizmann)S100A1
Ensembl hg19 (Hinxton)ENSG00000160678 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000160678 [Gene_View]  chr1:153628397-153632037 [Contig_View]  S100A1 [Vega]
ICGC DataPortalENSG00000160678
TCGA cBioPortalS100A1
AceView (NCBI)S100A1
Genatlas (Paris)S100A1
WikiGenes6271
SOURCE (Princeton)S100A1
Genetics Home Reference (NIH)S100A1
Genomic and cartography
GoldenPath hg38 (UCSC)S100A1  -     chr1:153628397-153632037 +  1q21.3   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)S100A1  -     1q21.3   [Description]    (hg19-Feb_2009)
EnsemblS100A1 - 1q21.3 [CytoView hg19]  S100A1 - 1q21.3 [CytoView hg38]
Mapping of homologs : NCBIS100A1 [Mapview hg19]  S100A1 [Mapview hg38]
OMIM176940   
Gene and transcription
Genbank (Entrez)AB451316 AB451446 AK126904 AK312152 BC014392
RefSeq transcript (Entrez)NM_006271
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)S100A1
Cluster EST : UnigeneHs.515715 [ NCBI ]
CGAP (NCI)Hs.515715
Alternative Splicing GalleryENSG00000160678
Gene ExpressionS100A1 [ NCBI-GEO ]   S100A1 [ EBI - ARRAY_EXPRESS ]   S100A1 [ SEEK ]   S100A1 [ MEM ]
Gene Expression Viewer (FireBrowse)S100A1 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)6271
GTEX Portal (Tissue expression)S100A1
Protein : pattern, domain, 3D structure
UniProt/SwissProtP23297   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtP23297  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProP23297
Splice isoforms : SwissVarP23297
PhosPhoSitePlusP23297
Domaine pattern : Prosite (Expaxy)EF_HAND_1 (PS00018)    EF_HAND_2 (PS50222)    S100_CABP (PS00303)   
Domains : Interpro (EBI)EF-hand-dom_pair    EF_Hand_1_Ca_BS    EF_hand_dom    S100-A1    S100/CaBP-9k_CS    S100_Ca-bd_sub   
Domain families : Pfam (Sanger)EF-hand_1 (PF00036)    S_100 (PF01023)   
Domain families : Pfam (NCBI)pfam00036    pfam01023   
Domain families : Smart (EMBL)EFh (SM00054)  S_100 (SM01394)  
Conserved Domain (NCBI)S100A1
DMDM Disease mutations6271
Blocks (Seattle)S100A1
PDB (SRS)2L0P    2LHL    2LLS    2LLT    2LLU    2LP2    2LP3    2LUX    2M3W   
PDB (PDBSum)2L0P    2LHL    2LLS    2LLT    2LLU    2LP2    2LP3    2LUX    2M3W   
PDB (IMB)2L0P    2LHL    2LLS    2LLT    2LLU    2LP2    2LP3    2LUX    2M3W   
PDB (RSDB)2L0P    2LHL    2LLS    2LLT    2LLU    2LP2    2LP3    2LUX    2M3W   
Structural Biology KnowledgeBase2L0P    2LHL    2LLS    2LLT    2LLU    2LP2    2LP3    2LUX    2M3W   
SCOP (Structural Classification of Proteins)2L0P    2LHL    2LLS    2LLT    2LLU    2LP2    2LP3    2LUX    2M3W   
CATH (Classification of proteins structures)2L0P    2LHL    2LLS    2LLT    2LLU    2LP2    2LP3    2LUX    2M3W   
SuperfamilyP23297
Human Protein AtlasENSG00000160678
Peptide AtlasP23297
HPRD01489
IPIIPI00645016   IPI00220412   IPI00641593   IPI00642049   
Protein Interaction databases
DIP (DOE-UCLA)P23297
IntAct (EBI)P23297
FunCoupENSG00000160678
BioGRIDS100A1
STRING (EMBL)S100A1
ZODIACS100A1
Ontologies - Pathways
QuickGOP23297
Ontology : AmiGOnegative regulation of transcription from RNA polymerase II promoter  toll-like receptor signaling pathway  calcium ion binding  protein binding  extracellular region  nucleus  regulation of heart contraction  sarcoplasmic reticulum  substantia nigra development  Z disc  M band  intracellular signal transduction  identical protein binding  protein homodimerization activity  neuron projection  protein complex  S100 protein binding  calcium-dependent protein binding  ATPase binding  positive regulation of voltage-gated calcium channel activity  
Ontology : EGO-EBInegative regulation of transcription from RNA polymerase II promoter  toll-like receptor signaling pathway  calcium ion binding  protein binding  extracellular region  nucleus  regulation of heart contraction  sarcoplasmic reticulum  substantia nigra development  Z disc  M band  intracellular signal transduction  identical protein binding  protein homodimerization activity  neuron projection  protein complex  S100 protein binding  calcium-dependent protein binding  ATPase binding  positive regulation of voltage-gated calcium channel activity  
REACTOMEP23297 [protein]
REACTOME PathwaysR-HSA-5686938 [pathway]   
NDEx NetworkS100A1
Atlas of Cancer Signalling NetworkS100A1
Wikipedia pathwaysS100A1
Orthology - Evolution
OrthoDB6271
GeneTree (enSembl)ENSG00000160678
Phylogenetic Trees/Animal Genes : TreeFamS100A1
HOVERGENP23297
HOGENOMP23297
Homologs : HomoloGeneS100A1
Homology/Alignments : Family Browser (UCSC)S100A1
Gene fusions - Rearrangements
Fusion : MitelmanSNAPIN/S100A1 [1q21.3/1q21.3]  [t(1;1)(q21;q21)]  
Fusion: TCGASNAPIN 1q21.3 S100A1 1q21.3 LUAD
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerS100A1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)S100A1
dbVarS100A1
ClinVarS100A1
1000_GenomesS100A1 
Exome Variant ServerS100A1
ExAC (Exome Aggregation Consortium)S100A1 (select the gene name)
Genetic variants : HAPMAP6271
Genomic Variants (DGV)S100A1 [DGVbeta]
DECIPHERS100A1 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisS100A1 
Mutations
ICGC Data PortalS100A1 
TCGA Data PortalS100A1 
Broad Tumor PortalS100A1
OASIS PortalS100A1 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICS100A1  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDS100A1
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD - Leiden Open Variation Database
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
BioMutasearch S100A1
DgiDB (Drug Gene Interaction Database)S100A1
DoCM (Curated mutations)S100A1 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)S100A1 (select a term)
intoGenS100A1
NCG5 (London)S100A1
Cancer3DS100A1(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM176940   
Orphanet
MedgenS100A1
Genetic Testing Registry S100A1
NextProtP23297 [Medical]
TSGene6271
GENETestsS100A1
Target ValidationS100A1
Huge Navigator S100A1 [HugePedia]
snp3D : Map Gene to Disease6271
BioCentury BCIQS100A1
ClinGenS100A1
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD6271
Chemical/Pharm GKB GenePA34898
Clinical trialS100A1
Miscellaneous
canSAR (ICR)S100A1 (select the gene name)
Probes
Litterature
PubMed96 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineS100A1
EVEXS100A1
GoPubMedS100A1
iHOPS100A1
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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