Human Gene S100A12 (ENST00000368737.5_7) from GENCODE V47lift37
  Description: S100 calcium binding protein A12 (from RefSeq NM_005621.2)
Gencode Transcript: ENST00000368737.5_7
Gencode Gene: ENSG00000163221.9_9
Transcript (Including UTRs)
   Position: hg19 chr1:153,346,187-153,348,097 Size: 1,911 Total Exon Count: 3 Strand: -
Coding Region
   Position: hg19 chr1:153,346,303-153,347,068 Size: 766 Coding Exon Count: 2 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther Species
GO AnnotationsmRNA DescriptionsPathwaysOther NamesModel InformationMethods
Data last updated at UCSC: 2024-08-22 23:36:26

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr1:153,346,187-153,348,097)mRNA (may differ from genome)Protein (92 aa)
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WikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: S10AC_HUMAN
DESCRIPTION: RecName: Full=Protein S100-A12; AltName: Full=CGRP; AltName: Full=Calcium-binding protein in amniotic fluid 1; Short=CAAF1; AltName: Full=Calgranulin-C; Short=CAGC; AltName: Full=Extracellular newly identified RAGE-binding protein; Short=EN-RAGE; AltName: Full=Migration inhibitory factor-related protein 6; Short=MRP-6; Short=p6; AltName: Full=Neutrophil S100 protein; AltName: Full=S100 calcium-binding protein A12; Contains: RecName: Full=Calcitermin;
FUNCTION: S100A12 is a calcium-, zinc- and copper-binding protein which plays a prominent role in the regulation of inflammatory processes and immune response. Its proinflammatory activity involves recruitment of leukocytes, promotion of cytokine and chemokine production, and regulation of leukocyte adhesion and migration. Acts as an alarmin or a danger associated molecular pattern (DAMP) molecule and stimulates innate immune cells via binding to receptor for advanced glycation endproducts (AGER). Binding to AGER activates the MAP-kinase and NF-kappa-B signaling pathways leading to production of proinflammatory cytokines and up-regulation of cell adhesion molecules ICAM1 and VCAM1. Acts as a monocyte and mast cell chemoattractant. Can stimulate mast cell degranulation and activation which generates chemokines, histamine and cytokines inducing further leukocyte recruitment to the sites of inflammation. Can inhibit the activity of matrix metalloproteinases; MMP2, MMP3 and MMP9 by chelating Zn(2+) from their active sites. Possesses filariacidal and filariastatic activity. Calcitermin possesses antifungal activity against C.albicans and is also active against E.coli and P.aeruginosa but not L.monocytogenes and S.aureus.
SUBUNIT: Homodimer. Homooligomer (tetramer or hexamer) in the presence of calcium, zinc and copper ions. Interacts with AGER and both calcium and zinc are essential for the interaction. Interacts with CACYBP in a calcium-dependent manner.
SUBCELLULAR LOCATION: Secreted. Cytoplasm. Cytoplasm, cytoskeleton. Cell membrane; Peripheral membrane protein. Note=Predominantly localized in the cytoplasm. Upon elevation of the intracellular calcium level, translocated from the cytoplasm to the cytoskeleton and the cell membrane. Upon neutrophil activation is secreted via a microtubule-mediated, alternative pathway.
TISSUE SPECIFICITY: Predominantly expressed by neutrophils, monocytes and activated macrophages. Expressed by eosinophils and macrophages in asthmatic airways in regions where mast cells accumulate. Found in high concentrations in the serum of patients suffering from various inflammatory disorders, such as rheumatoid arthritis, psoriatic arthritis, Crohn's disease, ulcerative colitis, and Kawasaki disease.
DOMAIN: The hinge domain contributes significantly to its chemotactic properties.
MASS SPECTROMETRY: Mass=10444; Method=Electrospray; Range=2-92; Source=PubMed:11522286;
MASS SPECTROMETRY: Mass=1688.9; Method=MALDI; Range=78-92; Source=PubMed:11522286;
SIMILARITY: Belongs to the S-101 family.
SIMILARITY: Contains 2 EF-hand domains.

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  MalaCards Disease Associations
  MalaCards Gene Search: S100A12
Diseases sorted by gene-association score: kawasaki disease (18), psoriatic arthritis (5), ulcerative colitis (4), rheumatoid arthritis (4), colitis (4), rheumatoid arthritis, systemic juvenile (1)

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 851.28 RPKM in Whole Blood
Total median expression: 1179.18 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -28.3090-0.314 Picture PostScript Text
3' UTR -22.10116-0.191 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR011992 - EF-hand-like_dom
IPR018249 - EF_HAND_2
IPR001751 - S100/CaBP-9k_CS
IPR013787 - S100_Ca-bd_sub

Pfam Domains:
PF01023 - S-100/ICaBP type calcium binding domain
PF13833 - EF-hand domain pair

SCOP Domains:
47473 - EF-hand
143842 - YwmB-like

Protein Data Bank (PDB) 3-D Structure
MuPIT help
1E8A - X-ray 1GQM - X-ray 1ODB - X-ray MuPIT 2WC8 - X-ray MuPIT 2WCB - X-ray MuPIT 2WCE - X-ray MuPIT 2WCF - X-ray MuPIT


ModBase Predicted Comparative 3D Structure on P80511
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The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologNo orthologNo orthologNo orthologNo ortholog
      
      
      
      
      

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0005507 copper ion binding
GO:0005509 calcium ion binding
GO:0005515 protein binding
GO:0008270 zinc ion binding
GO:0046872 metal ion binding
GO:0050786 RAGE receptor binding

Biological Process:
GO:0002376 immune system process
GO:0002548 monocyte chemotaxis
GO:0006805 xenobiotic metabolic process
GO:0006954 inflammatory response
GO:0030593 neutrophil chemotaxis
GO:0031640 killing of cells of other organism
GO:0042742 defense response to bacterium
GO:0043123 positive regulation of I-kappaB kinase/NF-kappaB signaling
GO:0043312 neutrophil degranulation
GO:0043406 positive regulation of MAP kinase activity
GO:0045087 innate immune response
GO:0045576 mast cell activation
GO:0050663 cytokine secretion
GO:0050729 positive regulation of inflammatory response
GO:0050832 defense response to fungus
GO:0051092 positive regulation of NF-kappaB transcription factor activity

Cellular Component:
GO:0005576 extracellular region
GO:0005634 nucleus
GO:0005737 cytoplasm
GO:0005829 cytosol
GO:0005856 cytoskeleton
GO:0005886 plasma membrane
GO:0016020 membrane
GO:0034774 secretory granule lumen


-  Descriptions from all associated GenBank mRNAs
  BC070294 - Homo sapiens S100 calcium binding protein A12, mRNA (cDNA clone MGC:88289 IMAGE:30415232), complete cds.
D49549 - Homo sapiens mRNA for calcium-binding protein in amniotic fluid 1, complete cds.
E12012 - cDNA encoding human CAAF1(Calcium binding protein in Amniotic Fluid 1).
D83664 - Homo sapiens mRNA for CAAF1 (calcium-binding protein in amniotic fluid 1), complete cds.
LP895141 - Sequence 5 from Patent EP3253886.
LQ740447 - Sequence 1 from Patent WO2018083189.
LP895754 - Sequence 618 from Patent EP3253886.
X97859 - H.sapiens mRNA for calgranulin C.
JD300474 - Sequence 281498 from Patent EP1572962.
JD239714 - Sequence 220738 from Patent EP1572962.
HQ257882 - Synthetic construct Homo sapiens clone IMAGE:100072311 S100 calcium binding protein A12 (S100A12) gene, encodes complete protein.
KJ892085 - Synthetic construct Homo sapiens clone ccsbBroadEn_01479 S100A12 gene, encodes complete protein.
AB464695 - Synthetic construct DNA, clone: pF1KB8858, Homo sapiens S100A12 gene for S100 calcium binding protein A12, without stop codon, in Flexi system.

-  Biochemical and Signaling Pathways
  Reactome (by CSHL, EBI, and GO)

Protein P80511 (Reactome details) participates in the following event(s):

R-HSA-6798748 Exocytosis of secretory granule lumen proteins
R-HSA-879411 Advanced glycosylation end product-specific receptor (AGER/RAGE) is a multiligand receptor
R-HSA-879362 AGER binds ERK1/2
R-NUL-997411 AGER binds rat ERK1/2
R-HSA-6798695 Neutrophil degranulation
R-HSA-879415 Advanced glycosylation endproduct receptor signaling
R-HSA-168249 Innate Immune System
R-HSA-168256 Immune System

-  Other Names for This Gene
  Alternate Gene Symbols: ENST00000368737.1, ENST00000368737.2, ENST00000368737.3, ENST00000368737.4, NM_005621, P80511, P83219, Q5SY66, Q7M4R1, S10AC_HUMAN, uc318hah.1, uc318hah.2
UCSC ID: ENST00000368737.5_7
RefSeq Accession: NM_005621.2
Protein: P80511 (aka S10AC_HUMAN or S112_HUMAN)

-  Gene Model Information
  Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.