Aliases for S100A3 Gene
Aliases for S100A3 Gene
External Ids for S100A3 Gene
- HGNC: 10493
- Entrez Gene: 6274
- Ensembl: ENSG00000188015
- OMIM: 176992
- UniProtKB: P33764
Previous HGNC Symbols for S100A3 Gene
- S100E
Previous GeneCards Identifiers for S100A3 Gene
- GC01M151335
- GC01M149302
- GC01M150344
- GC01M150789
- GC01M9A0063
- GC01M9A0332
- GC01M151786
- GC01M124883
Summaries for S100A3 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 has the highest content of cysteines of all S100 proteins, has a high affinity for Zinc, and is highly expressed in human hair cuticle. The precise function of this protein is unknown. [provided by RefSeq, Jul 2008]
GeneCards Summary for S100A3 Gene
S100A3 (S100 Calcium Binding Protein A3) is a Protein Coding gene. Diseases associated with S100A3 include Epidermoid Cysts and Pilomatrixoma. Gene Ontology (GO) annotations related to this gene include calcium ion binding.
UniProtKB/Swiss-Prot for S100A3 Gene
-
Binds both calcium and zinc. May be involved in calcium-dependent cuticle cell differentiation, hair shaft and hair cuticular barrier formation.
Additional gene information for S100A3 Gene
No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for S100A3 Gene
Genomics for S100A3 Gene
GeneHancer (GH) Regulatory Elements for S100A3 Gene
Promoters and enhancers for S100A3 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association
Download GeneHancer data dump
GeneHancers around S100A3 on UCSC Golden Path with GeneCards custom track
Regulatory Element Products
Genomic Locations for S100A3 Gene
Genomic Locations for S100A3 Gene
- chr1:153,547,329-153,549,372
- (GRCh38/hg38)
- Size:
- 2,044 bases
- Orientation:
- Minus strand
- chr1:153,519,805-153,521,848
- (GRCh37/hg19)
Genomic View for S100A3 Gene
Genes around S100A3 on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 1q21.3 by Ensembl
- 1q21.3 by Entrez Gene
- 1q21.3 by HGNC
S100A3 Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene Density
RefSeq DNA sequence for S100A3 Gene
Proteins for S100A3 Gene
-
Protein details for S100A3 Gene (UniProtKB/Swiss-Prot)
- Protein Symbol:
- P33764-S10A3_HUMAN
- Recommended name:
- Protein S100-A3
- Protein Accession:
- P33764
- D3DV51
- Q6FGE4
Protein attributes for S100A3 Gene
- Size:
- 101 amino acids
- Molecular mass:
- 11713 Da
- Quaternary structure:
-
- Homodimer and homotetramer for the citrullinated form.
Protein Expression for S100A3 Gene
Post-translational modifications for S100A3 Gene
- More than half of the arginine residues undergo citrullination by PAD1 and PAD2. Arg-51 is specifically citrullinated by PAD3 and promotes tetramerization.
Other Protein References for S100A3 Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
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Abcam proteins for S100A3
Assay Products
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Quality Products:
No data available for DME Specific Peptides for S100A3 Gene
Domains & Families for S100A3 Gene
Gene Families for S100A3 Gene
- HGNC:
- Human Protein Atlas (HPA):
-
- Predicted intracellular proteins
Protein Domains for S100A3 Gene
- InterPro:
- Blocks:
- ProtoNet:
Suggested Antigen Peptide Sequences for S100A3 Gene
- GenScript: Design optimal peptide antigens:
Graphical View of Domain Structure for InterPro Entry
P33764- Family:
-
- Belongs to the S-100 family.
Function for S100A3 Gene
Molecular function for S100A3 Gene
- GENATLAS Biochemistry:
- S100 calcium binding protein A3,epidermal differentiation complex
- UniProtKB/Swiss-Prot Function:
- Binds both calcium and zinc. May be involved in calcium-dependent cuticle cell differentiation, hair shaft and hair cuticular barrier formation.
Phenotypes From GWAS Catalog for S100A3 Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005509 | calcium ion binding | IEA | -- |
| GO:0008270 | zinc ion binding | IEA | -- |
| GO:0046872 | metal ion binding | IEA | -- |
| GO:0046914 | transition metal ion binding | IEA | -- |
Phenotypes for S100A3 Gene
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-
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- Mammalian expression: PiggyBac
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- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
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- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
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-
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Cell Line Products
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No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for S100A3 Gene
Localization for S100A3 Gene
Subcellular locations from UniProtKB/Swiss-Prot for S100A3 Gene
- Cytoplasm.
| Compartment | Confidence |
|---|---|
| nucleus | 5 |
| cytosol | 5 |
| extracellular | 2 |
- Cytosol (4)
- Nucleoli (4)
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005730 | nucleolus | IDA | -- |
| GO:0005737 | cytoplasm | IEA | -- |
| GO:0005829 | cytosol | IDA | -- |
Pathways & Interactions for S100A3 Gene
No Data Available
No data available for Pathways by source and SIGNOR curated interactions for S100A3 Gene
Drugs & Compounds for S100A3 Gene
| Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
|---|---|---|---|---|---|---|
| calcium | Approved | Nutra | 0 |
Transcripts for S100A3 Gene
mRNA/cDNA for S100A3 Gene
- (1) REFSEQ mRNAs :
- (5) Additional mRNA sequences :
- (388) Selected AceView cDNA sequences:
- (2) Ensembl transcripts including schematic representations, and UCSC links where relevant :
Unigene Clusters for S100A3 Gene
CRISPR Products
-
OriGene CRISPR knockouts for S100A3
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-
Vectors and viruses for KO, Activation, Repression, and more
-
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Clone Products
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-
VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
- Applied Biological Materials Clones for S100A3
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
Expression for S100A3 Gene
mRNA expression in embryonic tissues and stem cells from LifeMap Discovery
-
Hair (Integumentary System)
- Fetal Matrix Cells Hair Follicle
-
Epithelial Cells
- Fetal Matrix Cells Hair Follicle
-
Heart (Cardiovascular System)
mRNA differential expression in normal tissues according to GTEx for S100A3 Gene
This gene is overexpressed in Skin - Not Sun Exposed (Suprapubic) (x24.8) and Skin - Sun Exposed (Lower leg) (x5.8).
This gene is overexpressed in Hair follicle (68.6).
Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for S100A3 Gene
NURSA nuclear receptor signaling pathways regulating expression of S100A3 Gene:
S100A3SOURCE GeneReport for Unigene cluster for S100A3 Gene:
Hs.557609mRNA Expression by UniProt/SwissProt for S100A3 Gene:
P33764-S10A3_HUMAN
Tissue specificity:
Skin specific, specifically expressed at the inner endocuticle of hair fibers.
Evidence on tissue expression from TISSUES for S100A3 Gene
- Lung(4.2)
Primer Products
-
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No data available for Protein tissue co-expression partners and Phenotype-based relationships between genes and organs from Gene ORGANizer for S100A3 Gene
Orthologs for S100A3 Gene
This gene was present in the common ancestor of mammals.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| chimpanzee (Pan troglodytes) |
Mammalia | S100A3 33 34 |
|
||
| rat (Rattus norvegicus) |
Mammalia | S100a3 33 |
|
||
| mouse (Mus musculus) |
Mammalia | S100a3 33 16 34 |
|
||
| dog (Canis familiaris) |
Mammalia | S100A3 33 34 |
|
||
| oppossum (Monodelphis domestica) |
Mammalia | S100A3 34 |
|
OneToOne | |
| cow (Bos Taurus) |
Mammalia | S100A3 34 |
|
OneToOne | |
| platypus (Ornithorhynchus anatinus) |
Mammalia | S100A3 34 |
|
OneToOne |
- Species where no ortholog for S100A3 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)
- chicken (Gallus gallus)
- 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)
- 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)
- tropical clawed frog (Silurana tropicalis)
- wheat (Triticum aestivum)
- worm (Caenorhabditis elegans)
- zebrafish (Danio rerio)
Paralogs for S100A3 Gene
(10) SIMAP similar genes for S100A3 Gene using alignment to 1 proteins:
No data available for Paralogs for S100A3 Gene
Variants for S100A3 Gene
| SNP ID | Clin | Chr 01 pos | Variation | AA Info | Type |
|---|---|---|---|---|---|
| rs193921084 | uncertain-significance, Malignant tumor of prostate | 153,548,461(-) | C/A | coding_sequence_variant, missense_variant | |
| rs1001097220 | -- | 153,548,255(-) | C/T | intron_variant | |
| rs1001565381 | -- | 153,546,837(-) | C/G | downstream_transcript_variant | |
| rs1001827765 | -- | 153,547,068(-) | C/A | downstream_transcript_variant | |
| rs1001928447 | -- | 153,550,981(-) | G/A | upstream_transcript_variant |
| Variant ID | Type | Subtype | PubMed ID |
|---|---|---|---|
| esv3587584 | CNV | gain | 21293372 |
| esv3587591 | CNV | gain | 21293372 |
| nsv1002705 | CNV | gain | 25217958 |
| nsv831603 | CNV | gain | 17160897 |
Residual Variation Intolerance Score:
70.5% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score:
4.43;
63.90% of all genes are more intolerant (likely to be disease-causing)
Additional Variant Information for S100A3 Gene
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for S100A3 Gene
Disorders for S100A3 Gene
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| epidermoid cysts |
|
|
| pilomatrixoma |
|
|
| hair follicle neoplasm |
|
|
Search S100A3 in MalaCards
View complete list of genes associated with diseases
Additional Disease Information for S100A3
- Genetic Association Database
- (GAD)
- Human Genome Epidemiology Navigator
- (HuGE)
- ATLAS of Genetics and Cytogenetics in Oncology and Haematology
No data available for UniProtKB/Swiss-Prot and Genatlas for S100A3 Gene
Publications for S100A3 Gene
- Specific citrullination causes assembly of a globular S100A3 homotetramer: a putative Ca2+ modulator matures human hair cuticle. (PMID: 18083705) Kizawa K … Heizmann CW (The Journal of biological chemistry 2008) 3 4 22 58
- Probing the structure of the human Ca2+- and Zn2+-binding protein S100A3: spectroscopic investigations of its transition metal ion complexes, and three-dimensional structural model. (PMID: 9920417) Fritz G … Kroneck PM (Biochimica et biophysica acta 1998) 3 4 22 58
- Six S100 genes are clustered on human chromosome 1q21: identification of two genes coding for the two previously unreported calcium-binding proteins S100D and S100E. (PMID: 8341667) Engelkamp D … Heizmann CW (Proceedings of the National Academy of Sciences of the United States of America 1993) 2 3 4 58
- Refined crystal structures of human Ca(2+)/Zn(2+)-binding S100A3 protein characterized by two disulfide bridges. (PMID: 21377473) Unno M … Kizawa K (Journal of molecular biology 2011) 3 4 58
- Variation in genes of the epidermal differentiation complex in German atopic dermatitis patients. (PMID: 19601998) Stemmler S … Hoffjan S (International journal of immunogenetics 2009) 3 44 58
Products for S100A3 Gene
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- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for S100A3
- VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
- antibodies-online: Search results for 57 available S100A3 Antibodies ranked by validation data
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Sources for S100A3 Gene
- (1) GeneCards
- (2) HGNC
- (3) EntrezGene
- (4) Swiss-Prot
- (5) Ensembl
- (6) OMIM
- (7) GeneLoc
- (8) Gene Wiki
- (9) UCSC
- (10) PhosphoSitePlus
- (11) GO
- (12) TrEMBL
- (13) InterPro
- (14) ProtoNet
- (15) Blocks
- (16) MGI
- (17) IUBMB
- (18) KEGG
- (19) MINT
- (20) STRING
- (21) IntAct
- (22) Novoseek
- (23) PharmGKB
- (24) DrugBank
- (25) HMDB
- (26) UniGene
- (27) AceView
- (28) ASD
- (29) ECgene
- (30) GeneAnnot
- (31) CGAP SAGE
- (32) SOURCE
- (33) HomoloGene
- (34) PanEnsembl
- (35) euGenes
- (36) SGD
- (37) FlyBase
- (38) WormBase
- (39) Pseudogene
- (40) DGV
- (41) dbSNP
- (42) GenAtlas
- (43) HGMD
- (44) GAD
- (45) BGMUT
- (46) HuGE
- (47) Atlas
- (48) Cell Signaling Technology
- (49) GenBank
- (50) H-invDB
- (51) HORDE
- (52) HUGE
- (53) IMGT
- (54) Leiden
- (55) miRBase
- (56) DME
- (57) OriGene
- (58) PubMed
- (59) R&D Systems
- (60) TGDB
- (61) Tocris
- (62) Abcam
- (63) Novus Biologicals
- (64) ProSpec
- (65) Sino Biological
- (66) GenScript
- (67) Qiagen
- (68) Cloud-Clone Corp.
- (69) OCA
- (70) Proteopedia
- (71) MOPED
- (72) neXtProt
- (73) Reactome
- (74) GeneGo (Thomson Reuters)
- (75) fRNAdb
- (76) DISEASES
- (77) SIMAP
- (78) GenomeRNAi
- (79) LifeMap
- (80) miRTarBase
- (81) MalaCards
- (82) Invitrogen
- (83) BitterDB
- (84) Vector BioLabs
- (85) ESI-BIO
- (86) RefSeq
- (87) BioSystems
- (88) MaxQB
- (89) IUPHAR
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