Human Gene TESC (ENST00000335209.12_7) from GENCODE V47lift37
  Description: tescalcin, transcript variant 3 (from RefSeq NR_031766.3)
Gencode Transcript: ENST00000335209.12_7
Gencode Gene: ENSG00000088992.18_9
Transcript (Including UTRs)
   Position: hg19 chr12:117,476,728-117,537,221 Size: 60,494 Total Exon Count: 8 Strand: -
Coding Region
   Position: hg19 chr12:117,476,938-117,537,087 Size: 60,150 Coding Exon Count: 8 

Page IndexSequence and LinksUniProtKB CommentsPrimersCTDGene Alleles
RNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther SpeciesGO Annotations
mRNA DescriptionsOther NamesModel InformationMethods
Data last updated at UCSC: 2024-08-22 23:36:26

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr12:117,476,728-117,537,221)mRNA (may differ from genome)Protein (214 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
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HGNCMGIOMIMPubMedUniProtKBBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: CHP3_HUMAN
DESCRIPTION: RecName: Full=Calcineurin B homologous protein 3; AltName: Full=Tescalcin; Short=TSC;
FUNCTION: Functions as an integral cofactor in cell pH regulation by controlling plasma membrane-type Na(+)/H(+) exchange activity. Promotes the maturation, transport, cell surface stability and exchange activity of SLC9A1/NHE1 at the plasma membrane. Promotes the induction of hematopoietic stem cell differentiation toward megakaryocytic lineage. Essential for the coupling of ERK cascade activation with the expression of ETS family genes in megakaryocytic differentiation. Also involved in granulocytic differentiation in a ERK-dependent manner. Inhibits the phosphatase activity of calcineurin.
COFACTOR: Magnesium. Calcium-binding mediates the calcium-induced conformational change (By similarity). Calcium.
SUBUNIT: Monomer. Homodimer; disulfide-linked (By similarity). Interacts with SLC9A1/NHE1 (via juxtamembrane region of the cytoplasmic C-terminus); the interaction enable an optimal Na(+)/H(+) exchange activity.
INTERACTION: Q9NP66:HMG20A; NbExp=2; IntAct=EBI-740653, EBI-740641;
SUBCELLULAR LOCATION: Nucleus. Cytoplasm. Membrane (By similarity). Cell membrane. Cell projection, lamellipodium (By similarity). Cell projection, ruffle membrane (By similarity). Note=Colocalizes with SLC9A1 at the plasma membrane.
TISSUE SPECIFICITY: Expressed in mature megakaryocytes and polymorphonuclear granulocytes (at protein level). Abundantly expressed in heart. Also expressed at a lower level in adult testis and salivary gland, and in the placenta.
DEVELOPMENTAL STAGE: Strongly up-regulated in K562 cells treated by PMA to promote megakaryocytic differentiation, but not when treated by DMSO to promote granulocytic differentiation or by hemin to promote erythroid differentiation (at protein level).
INDUCTION: Up-regulated during granulocytic differentiation in a ERK-dependent manner (is mediated by activation of ERK) (at protein level). Up-regulated during the differentiation and maturation of primary megakaryocytes. Down-regulated during monocytic-macrophage differentiation in a ERK-dependent manner.
SIMILARITY: Belongs to the calcineurin regulatory subunit family. CHP subfamily.
SIMILARITY: Contains 1 EF-hand domain.
CAUTION: Although PubMed:12809501 reports that TESC results in a decrease in transporter activity of human SLC9A1, studies with rat SLC9A1 (PubMed:18321853) show that TESC-binding results in the maturation and accumulation of SLC9A1 at the cell surface.
SEQUENCE CAUTION: Sequence=BAA91288.1; Type=Erroneous initiation; Note=Translation N-terminally shortened; Sequence=EAW98101.1; Type=Erroneous initiation; Note=Translation N-terminally shortened;

-  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


-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

+  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: 43.63 RPKM in Stomach
Total median expression: 465.30 RPKM



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

+  Microarray Expression Data
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-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -71.10134-0.531 Picture PostScript Text
3' UTR -60.40210-0.288 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
IPR018247 - EF_Hand_1_Ca_BS
IPR018249 - EF_HAND_2

Pfam Domains:
PF13202 - EF hand

SCOP Domains:
47473 - EF-hand

ModBase Predicted Comparative 3D Structure on Q96BS2
FrontTopSide
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 DetailsGene Details    
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-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0000287 magnesium ion binding
GO:0004860 protein kinase inhibitor activity
GO:0005509 calcium ion binding
GO:0005515 protein binding
GO:0019212 phosphatase inhibitor activity
GO:0042803 protein homodimerization activity
GO:0046872 metal ion binding

Biological Process:
GO:0006469 negative regulation of protein kinase activity
GO:0008285 negative regulation of cell proliferation
GO:0010628 positive regulation of gene expression
GO:0015031 protein transport
GO:0030154 cell differentiation
GO:0030854 positive regulation of granulocyte differentiation
GO:0032417 positive regulation of sodium:proton antiporter activity
GO:0033628 regulation of cell adhesion mediated by integrin
GO:0043086 negative regulation of catalytic activity
GO:0045654 positive regulation of megakaryocyte differentiation
GO:0045893 positive regulation of transcription, DNA-templated
GO:0050821 protein stabilization
GO:0051604 protein maturation
GO:0071300 cellular response to retinoic acid
GO:0072659 protein localization to plasma membrane

Cellular Component:
GO:0001726 ruffle
GO:0005634 nucleus
GO:0005737 cytoplasm
GO:0005829 cytosol
GO:0005886 plasma membrane
GO:0016020 membrane
GO:0030027 lamellipodium
GO:0032587 ruffle membrane
GO:0042995 cell projection


-  Descriptions from all associated GenBank mRNAs
  AK000614 - Homo sapiens cDNA FLJ20607 fis, clone KAT06217.
BC015221 - Homo sapiens tescalcin, mRNA (cDNA clone MGC:17786 IMAGE:3885280), complete cds.
AF443207 - Homo sapiens tescalcin mRNA, complete cds.
JD153959 - Sequence 134983 from Patent EP1572962.
JD465847 - Sequence 446871 from Patent EP1572962.
JD540506 - Sequence 521530 from Patent EP1572962.
JD125007 - Sequence 106031 from Patent EP1572962.
JD189719 - Sequence 170743 from Patent EP1572962.
JD269520 - Sequence 250544 from Patent EP1572962.
JD419296 - Sequence 400320 from Patent EP1572962.
DQ894644 - Synthetic construct Homo sapiens clone IMAGE:100009104; FLH177182.01L; RZPDo839E02123D tescalcin (TESC) gene, encodes complete protein.
JD522168 - Sequence 503192 from Patent EP1572962.
LF367043 - JP 2014500723-A/174546: Polycomb-Associated Non-Coding RNAs.
MA602620 - JP 2018138019-A/174546: Polycomb-Associated Non-Coding RNAs.

-  Other Names for This Gene
  Alternate Gene Symbols: CHP3, CHP3_HUMAN, ENST00000335209.1, ENST00000335209.10, ENST00000335209.11, ENST00000335209.2, ENST00000335209.3, ENST00000335209.4, ENST00000335209.5, ENST00000335209.6, ENST00000335209.7, ENST00000335209.8, ENST00000335209.9, F5H1Y5, NR_031766, Q96BS2, Q9NWT9, uc317ues.1, uc317ues.2
UCSC ID: ENST00000335209.12_7
RefSeq Accession: NM_017899.4
Protein: Q96BS2 (aka CHP3_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.