Human Gene SPRR3 (ENST00000295367.5_5) from GENCODE V47lift37
  Description: small proline rich protein 3, transcript variant 2 (from RefSeq NM_001097589.2)
Gencode Transcript: ENST00000295367.5_5
Gencode Gene: ENSG00000163209.15_9
Transcript (Including UTRs)
   Position: hg19 chr1:152,974,225-152,976,332 Size: 2,108 Total Exon Count: 2 Strand: +
Coding Region
   Position: hg19 chr1:152,975,497-152,976,006 Size: 510 Coding Exon Count: 1 

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 (chr1:152,974,225-152,976,332)mRNA (may differ from genome)Protein (169 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
AlphaFoldBioGPSEnsemblEntrez GeneExonPrimerGeneCards
HGNCMalacardsMGIOMIMPubMedReactome
UniProtKBWikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: SPRR3_HUMAN
DESCRIPTION: RecName: Full=Small proline-rich protein 3; AltName: Full=22 kDa pancornulin; AltName: Full=Cornifin beta; AltName: Full=Esophagin;
FUNCTION: Cross-linked envelope protein of keratinocytes.
SUBCELLULAR LOCATION: Cytoplasm.
INDUCTION: During squamous differentiation of epidermal keratinocytes.
MASS SPECTROMETRY: Mass=17239; Method=Electrospray; Range=2-169; Note=Variants Del 98-Cys--Pro-105 and Val-149; Source=PubMed:20599699;
MASS SPECTROMETRY: Mass=18065; Method=Electrospray; Range=2-169; Source=PubMed:20599699;
SIMILARITY: Belongs to the cornifin (SPRR) family.
WEB RESOURCE: Name=NIEHS-SNPs; URL="http://egp.gs.washington.edu/data/sprr3/";

-  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: SPRR3
Diseases sorted by gene-association score: esophageal cancer (7)

-  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: 8311.17 RPKM in Esophagus - Mucosa
Total median expression: 10639.47 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 -14.3064-0.223 Picture PostScript Text
3' UTR -68.40326-0.210 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
IPR003302 - Cornifin
IPR026075 - SPRR/LCE

Pfam Domains:
PF02389 - Cornifin (SPRR) family

ModBase Predicted Comparative 3D Structure on Q9UBC9
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    
Gene SorterGene Sorter    
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-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0005198 structural molecule activity
GO:0005515 protein binding

Biological Process:
GO:0008544 epidermis development
GO:0018149 peptide cross-linking
GO:0030216 keratinocyte differentiation
GO:0031424 keratinization
GO:0042060 wound healing
GO:0070268 cornification

Cellular Component:
GO:0001533 cornified envelope
GO:0005737 cytoplasm
GO:0005794 Golgi apparatus
GO:0005829 cytosol
GO:0048471 perinuclear region of cytoplasm
GO:0070062 extracellular exosome


-  Descriptions from all associated GenBank mRNAs
  JD319077 - Sequence 300101 from Patent EP1572962.
AK309626 - Homo sapiens cDNA, FLJ99667.
AK311823 - Homo sapiens cDNA, FLJ92084, Homo sapiens small proline-rich protein 3 (SPRR3), mRNA.
BC017802 - Homo sapiens small proline-rich protein 3, mRNA (cDNA clone MGC:22360 IMAGE:4288753), complete cds.
EF553525 - Homo sapiens clone DKFZp781B0847 SPRR3 (SPRR3) mRNA, complete cds.
JD479348 - Sequence 460372 from Patent EP1572962.
AJ243667 - Homo sapiens mRNA for small proline-rich protein 3 (SPRR3 gene).
AY118269 - Homo sapiens esophagin mRNA, complete cds.
JD448116 - Sequence 429140 from Patent EP1572962.
KJ901761 - Synthetic construct Homo sapiens clone ccsbBroadEn_11155 SPRR3 gene, encodes complete protein.
AB587575 - Synthetic construct DNA, clone: pF1KB8748, Homo sapiens SPRR3 gene for small proline-rich protein 3, without stop codon, in Flexi system.
JD364744 - Sequence 345768 from Patent EP1572962.
JD528571 - Sequence 509595 from Patent EP1572962.
JD256081 - Sequence 237105 from Patent EP1572962.
JD135656 - Sequence 116680 from Patent EP1572962.
JD555805 - Sequence 536829 from Patent EP1572962.

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

Protein Q9UBC9 (Reactome details) participates in the following event(s):

R-HSA-6810937 Lamellar bodies bind the early cornified envelope
R-HSA-6814734 CDSN binds the cornified envelope
R-HSA-6814298 Late envelope proteins bind cornified envelope:CDSN
R-HSA-6814387 CASP14 cleaves filaggrin
R-HSA-6809371 Formation of the cornified envelope
R-HSA-6805567 Keratinization
R-HSA-1266738 Developmental Biology

-  Other Names for This Gene
  Alternate Gene Symbols: A5YKK8, B2R4G8, D3DV32, ENST00000295367.1, ENST00000295367.2, ENST00000295367.3, ENST00000295367.4, NM_001097589, O75597, Q4ZGI7, Q5T525, Q8NET7, Q9UBC9, Q9UDG3, SPRC, SPRR3_HUMAN, uc317llh.1, uc317llh.2
UCSC ID: ENST00000295367.5_5
RefSeq Accession: NM_001097589.2
Protein: Q9UBC9 (aka SPRR3_HUMAN or COR3_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.