Human Gene SCEL (ENST00000349847.4) from GENCODE V44
  Description: Homo sapiens sciellin (SCEL), transcript variant 1, mRNA. (from RefSeq NM_144777)
RefSeq Summary (NM_144777): The protein encoded by this gene is a precursor to the cornified envelope of terminally differentiated keratinocytes. This protein localizes to the periphery of cells and may function in the assembly or regulation of proteins in the cornified envelope. Transcript variants encoding different isoforms exist. A transcript variant utilizing an alternative polyA signal has been described in the literature, but its full-length nature has not been determined. [provided by RefSeq, Jul 2008].
Gencode Transcript: ENST00000349847.4
Gencode Gene: ENSG00000136155.17
Transcript (Including UTRs)
   Position: hg38 chr13:77,535,706-77,645,263 Size: 109,558 Total Exon Count: 33 Strand: +
Coding Region
   Position: hg38 chr13:77,555,876-77,644,274 Size: 88,399 Coding Exon Count: 32 

Page IndexSequence and LinksUniProtKB CommentsPrimersCTDRNA-Seq Expression
Microarray ExpressionRNA StructureProtein StructureOther SpeciesGO AnnotationsmRNA Descriptions
Other NamesMethods
Data last updated at UCSC: 2023-08-18 00:09:47

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr13:77,535,706-77,645,263)mRNA (may differ from genome)Protein (688 aa)
Gene SorterGenome BrowserOther Species FASTAGene interactionsTable SchemaAlphaFold
BioGPSEnsemblEntrez GeneExonPrimerGencodeGeneCards
HGNCHPRDLynxMGIneXtProtOMIM
PubMedUniProtKBWikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: SCEL_HUMAN
DESCRIPTION: RecName: Full=Sciellin;
FUNCTION: May function in the assembly or regulation of proteins in the cornified envelope. The LIM domain may be involved in homotypic or heterotypic associations and may function to localize sciellin to the cornified envelope.
SUBCELLULAR LOCATION: Cytoplasm. Membrane. Note=May become cross- linked to membrane proteins by transglutaminase.
TISSUE SPECIFICITY: Highly expressed in esophagus. It is also expressed in keratinocytes, amniotic tissue, foreskin stratum spinosum and stratum granulosum, hair follicle and nail.
SIMILARITY: Contains 1 LIM zinc-binding domain.

-  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

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 186.43 RPKM in Esophagus - Mucosa
Total median expression: 465.03 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 -32.50138-0.236 Picture PostScript Text
3' UTR -212.90989-0.215 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
IPR001781 - Znf_LIM

ModBase Predicted Comparative 3D Structure on O95171
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
Genome BrowserGenome BrowserGenome BrowserNo orthologNo orthologNo ortholog
Gene Details     
Gene Sorter     
MGIRGDEnsembl   
Protein SequenceProtein SequenceProtein Sequence   
AlignmentAlignmentAlignment   

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0005515 protein binding
GO:0046872 metal ion binding

Biological Process:
GO:0008544 epidermis development
GO:0009612 response to mechanical stimulus
GO:0009792 embryo development ending in birth or egg hatching
GO:0030216 keratinocyte differentiation
GO:0090263 positive regulation of canonical Wnt signaling pathway

Cellular Component:
GO:0001533 cornified envelope
GO:0005737 cytoplasm
GO:0016020 membrane
GO:0048471 perinuclear region of cytoplasm
GO:0070062 extracellular exosome


-  Descriptions from all associated GenBank mRNAs
  BC047536 - Homo sapiens sciellin, mRNA (cDNA clone MGC:41875 IMAGE:5271857), complete cds.
BC020726 - Homo sapiens sciellin, mRNA (cDNA clone IMAGE:4689502), complete cds.
AF045941 - Homo sapiens sciellin (SCEL) mRNA, complete cds.
AK222720 - Homo sapiens mRNA for sciellin isoform b variant, clone: COL08918.
AK025320 - Homo sapiens cDNA: FLJ21667 fis, clone COL08918, highly similar to AF045941 Homo sapiens sciellin (SCEL) mRNA.
AK301659 - Homo sapiens cDNA FLJ56799 complete cds, highly similar to Sciellin.
CU690432 - Synthetic construct Homo sapiens gateway clone IMAGE:100020987 5' read SCEL mRNA.
JF432350 - Synthetic construct Homo sapiens clone IMAGE:100073541 sciellin (SCEL) gene, encodes complete protein.
KJ905974 - Synthetic construct Homo sapiens clone ccsbBroadEn_15644 SCEL gene, encodes complete protein.
KJ897911 - Synthetic construct Homo sapiens clone ccsbBroadEn_07305 SCEL gene, encodes complete protein.
JD190147 - Sequence 171171 from Patent EP1572962.
JD342857 - Sequence 323881 from Patent EP1572962.
JD361668 - Sequence 342692 from Patent EP1572962.
JD352229 - Sequence 333253 from Patent EP1572962.
JD501835 - Sequence 482859 from Patent EP1572962.

-  Other Names for This Gene
  Alternate Gene Symbols: ENST00000349847.1, ENST00000349847.2, ENST00000349847.3, NM_144777, O95171, Q53H61, Q5W0S8, Q5W0S9, Q86X00, SCEL_HUMAN, uc001vki.1, uc001vki.2, uc001vki.3, uc001vki.4, uc001vki.5
UCSC ID: ENST00000349847.4
RefSeq Accession: NM_144777
Protein: O95171 (aka SCEL_HUMAN)
CCDS: CCDS9458.1, CCDS9459.1

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