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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

SCEL Gene

protein-coding   GIFtS: 50
GCID: GC13P078109

sciellin
 Explore 5 diseases affiliated with
SCEL via
MalaCards
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Biological research products
for SCEL    

Aliases
for SCEL gene

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section
Aliases
Sciellin1
FLJ216671
MGC225311

External Ids:    HGNC: 105731   Entrez Gene: 87962   Ensembl: ENSG000001361557   OMIM: 6041125   UniProtKB: O951713   

Export aliases for SCEL gene to outside databases

Previous GC identifers: GC13P076077 GC13P072104 GC13P076986 GC13P075907 GC13P076854 GC13P058807


Summaries
for SCEL gene

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section
Entrez Gene summary for SCEL:
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)

UniProtKB/Swiss-Prot: SCEL_HUMAN, O95171
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

Gene Wiki entry for SCEL


Genomic Views
for SCEL gene

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000013.10  NC_018924.1  NT_024524.14  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the SCEL gene promoter:
         c-Fos   AP-1   AML1a   ATF-2   CRE-BP1   Cart-1   FOXO1a   c-Jun   Hlf   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: SCEL promoter sequence
   Search SABiosciences Chromatin IP Primers for SCEL

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat SCEL


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 13q22   Ensembl cytogenetic band:  13q22.3   HGNC cytogenetic band: 13q22

SCEL Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
SCEL gene location

GeneLoc information about chromosome 13         GeneLoc Exon Structure

GeneLoc location for GC13P078109:  view genomic region     (about GC identifiers)

Start:
 78,109,809 bp from pter      End:
 78,219,398 bp from pter
Size:
 109,590 bases      Orientation:
 plus strand

Proteins
for SCEL gene

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section
UniProtKB/Swiss-Prot: SCEL_HUMAN, O95171 (See protein sequence)
Recommended Name: Sciellin  
Size: 688 amino acids; 77552 Da
Subcellular location: Cytoplasm. Membrane. Note=May become cross-linked to membrane proteins by transglutaminase
Secondary accessions: B7Z797 F5H651 Q53H61 Q5W0S8 Q5W0S9 Q86X00
Alternative splicing: 3 isoforms:  O95171-1   O95171-2   O95171-3   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for SCEL: NX_O95171

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_O95171

    • SCEL Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins (3 alternative transcripts): 
    NP_001154178.1  NP_003834.3  NP_659001.2  

    ENSEMBL proteins: 
     ENSP00000432840   ENSP00000366454   ENSP00000302579   ENSP00000437895  

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    Uscn Proteins for SCEL

    Gene Ontology (GO): 3 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001533cornified envelope TAS9813070
    GO:0005737cytoplasm ISS11112355
    GO:0005886plasma membrane IDA--


    SCEL for ontologies           About GeneDecksing



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    Uscn ELISAs and CLIAs for SCEL

    Protein Domains /
    Families
    for SCEL gene

    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    SCEL for domains           About GeneDecksing

    1 InterPro domain/family:
     IPR001781 Znf_LIM

    Graphical View of Domain Structure for InterPro Entry O95171

    ProtoNet protein and cluster: O95171

    1 Blocks protein family: IPB001781 Zn-binding protein

    UniProtKB/Swiss-Prot: SCEL_HUMAN, O95171
    Similarity: Contains 1 LIM zinc-binding domain


    Function
    for SCEL gene

    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section
    Function Summary:

         UniProtKB/Swiss-Prot: SCEL_HUMAN, O95171
    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

         Genatlas biochemistry entry for SCEL:
    sciellin,precursor of the cornified envelopes of keratinizing tissues,expressed in the stratum granulosum (in
    stratified squamous epithelia

    miRNA
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    3 QIAGEN miScript miRNA Assays for microRNAs that regulate SCEL:
    hsa-miR-203 hsa-miR-875-3p hsa-miR-4282
    SwitchGear 3'UTR luciferase reporter plasmid: SCEL 3' UTR sequence
    Inhib. RNA
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    OriGene shRNA RFP: SCEL
    OriGene siRNA: SCEL
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    Gene Editing
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    Clone
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    In Situ Assay
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    Gene Ontology (GO): 2 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005515protein binding IPI14632196
    GO:0008270zinc ion binding IEA--


    SCEL for ontologies           About GeneDecksing


    Animal Models:
         Mouse knock-out Sceltm1Hba for SCEL
         1 MGI mutant phenotype (inferred from 1 allele) (MGI details for Scel):
     normal 

    SCEL for phenotypes           About GeneDecksing


    Pathways & Interactions
    for SCEL gene

    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
    About This Section



    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for SCEL

    STRING Interaction Network Preview (showing 2 interactants - click image to see more details)

    4 Interacting proteins for SCEL (O951712, 3 ENSP000003025794) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    SFNP319472, 3, ENSP000003409894MINT-3975279 I2D: score=1 STRING: ENSP00000340989
    TXNIPQ9H3M73, ENSP000003583234I2D: score=2 STRING: ENSP00000358323
    GOLGA2Q083793I2D: score=1 
    NMIQ132873I2D: score=1 
    About this table

    Gene Ontology (GO): 3 biological process terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0008544epidermis development TAS9813070
    GO:0009790embryo development ISS11112355
    GO:0030216keratinocyte differentiation IDA14632196


    SCEL for ontologies           About GeneDecksing



    Drugs & Compounds
    for SCEL gene

    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section
    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for SCEL
    Search CenterWatch for drugs/clinical trials and news about SCEL 

    Transcripts
    for SCEL gene

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section
    REFSEQ mRNAs for SCEL gene (3 alternative transcripts): 
    NM_001160706.1  NM_003843.3  NM_144777.2  

    Unigene Cluster for SCEL:

    Sciellin
    Hs.534699  [show with all ESTs]
    Unigene Representative Sequence: BC047536
    5 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000471491 ENST00000377246(uc001vkj.3) ENST00000349847 ENST00000469982
    ENST00000535157(uc001vki.3 uc010thx.2)

    miRNA
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    3 QIAGEN miScript miRNA Assays for microRNAs that regulate SCEL:
    hsa-miR-203 hsa-miR-875-3p hsa-miR-4282
    SwitchGear 3'UTR luciferase reporter plasmid: SCEL 3' UTR sequence
    Inhib. RNA
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    Clone
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    Primer
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    Additional cDNA sequence: 

    AF045941.1 AK025320.1 AK222720.1 AK301659.1 BC047536.1 

    14 DOTS entries:

    DT.100772592  DT.454129  DT.100772591  DT.97835556  DT.120772163  DT.92047074  DT.100022613  DT.120772147 
    DT.120772152  DT.120772157  DT.120772160  DT.120772167  DT.95338421  DT.97765736 

    24/44 AceView cDNA sequences (see all 44):

    BM973059 CB265256 AI804274 BC020726 AI623978 AA992192 BM839097 BM955764 
    AA242761 AU098674 AA242740 AW470178 AA242871 BC047536 AA455011 BQ694222 
    AF045941 BG528419 BM955765 BG190296 AL602783 BU684595 AA252151 AK025320 

    GeneLoc Exon Structure


    Expression
    for SCEL gene

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    SCEL expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: TGTCTGAAAA

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)
    About this image

    SCEL expression in embryonic tissues and stem cells
    Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine    About this table
    2 LifeMap In Vivo Development Anatomical Compartments/Cells 
    Tissue Anatomical Compartment CellCategory (developmental path)
    LungRespiratory BronchiolesBasal CellsLung
    KidneyS-shaped BodyKidney
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization

    See SCEL Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for SCEL

    SOURCE GeneReport for Unigene cluster: Hs.534699

    UniProtKB/Swiss-Prot: SCEL_HUMAN, O95171
    Tissue specificity: Highly expressed in esophagus. It is also expressed in keratinocytes, amniotic tissue, foreskin
    stratum spinosum and stratum granulosum, hair follicle and nail

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    In Situ
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    Orthologs
    for SCEL gene

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section
    This gene was present in the common ancestor of chordates.

    Orthologs for SCEL gene from 3/11 species (see all 11)    About this table
    Organism Taxonomic
    classification    		 Gene Description Human
    Similarity    		 Orthology
    Type    		 Details
    lizard
    (Anolis carolinensis)    		 Reptilia SCEL6
    		 --
    		 63(a)
    		 1 ↔ 1
    		 3(86244217-86252466)
    African clawed frog
    (Xenopus laevis)    		 Amphibia Xl.156582 Xenopus laevis transcribed sequence with weak similarity to protein pirJE0325 (H.sapiens) JE0325 LIM protein - human less 75.29(n)    BJ062704.1 
    zebrafish
    (Danio rerio)    		 Actinopterygii scel1 sciellin 39.98(n)
    26.93(a)    		   368684  NM_001005304.1  NP_001005304.1 


    ENSEMBL Gene Tree for SCEL (if available)
    TreeFam Gene Tree for SCEL (if available) 

    Paralogs
    for SCEL gene

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for SCEL gene
    ZNF1852  

    SCEL for paralogs           About GeneDecksing



    Genomic Variants
    for SCEL gene

    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/1773 NCBI SNPs in SCEL are shown (see all 1773)     About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance    		Chr 13 posSequence#AA
    Chg    		TypeMore#Allele
    freq    		PopTotal
    sample    		More
    ----------
    rs38128291,2
    		C,F,H,--78107941(+) TCCATA/CAAAAA 3 -- us2k112Minor allele frequency- C:0.04NS EA NA 1934
    rs1428669521,2
    		--78107952(+) GCTGAG/TTAGAC 3 -- us2k10--------
    rs1821116401,2
    		--78108140(+) GTGGGC/TGTCAC 3 -- us2k10--------
    rs732273471,2
    		C,F,--78108141(+) TGGGCG/ATCACT 3 -- us2k11Minor allele frequency- A:0.02NA 120
    rs1465881341,2
    		--78108244(+) GATGAC/TGTGGC 3 -- us2k10--------
    rs21468771,2
    		C,F,O,H,--78108335(+) GTCCCC/TGCCTA 3 -- us2k124Minor allele frequency- T:0.08NS EA NA CSA WA 2736
    rs1399080321,2
    		--78108346(+) GAATGG/TCTCTT 3 -- us2k10--------
    rs2008255481,2
    		--78108399(+) GTTGG-/TGTTTT 3 -- us2k10--------
    rs775104131,2
    		C,--78108400(+) GTTGGT/GTTTTT 3 -- us2k19Minor allele frequency- G:0.03NA WA CSA EA 369
    rs73363621,2
    		C--78108411(+) tttgtT/Cttttt 3 -- us2k11Minor allele frequency- C:0.00NA 2

    HapMap Linkage Disequilibrium report for SCEL (78109809 - 78219398 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 5 variations for SCEL
         2 CNVs: 66487 39141
         3 Indels: 86917 76421 66488

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    Disorders / Diseases
    for SCEL gene

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    SCEL for disorders           About GeneDecksing

    OMIM gene information: 604112    OMIM disorders: --

    5 diseases for SCEL:    About MalaCards
    denys-drash syndrome    esophageal squamous cell carcinoma    squamous cell carcinoma    esophagitis
    carcinoma


    Export disorders for SCEL gene to outside databases

    Publications
    for SCEL gene

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for SCEL gene, integrated from 9 sources (see all 23):
    (articles sorted by number of sources associating them with SCEL)    		    Utopia: connect your pdf to the dynamic
    world of online information

    1. cDNA cloning and characterization of sciellin, a LIM domain protein of the keratinocyte cornified envelope. (PubMed id 9813070)1, 2, 3, 9 Champliaud M.-F.... Olson P.F. (1998)
    2. Gene characterization of sciellin (SCEL) and protein localization in vertebrate epithelia displaying barrier properties. (PubMed id 11112355)1, 9 Champliaud M.F....Viel A. (2000)
    3. Analysis of Sciellin (SCEL) as a candidate gene in esophageal squamous cell carcinoma. (PubMed id 15274303)1, 9 Corona W....Wadleigh R. (2004)
    4. The expression of vitamin D-upregulated protein 1 in skin and its interaction with sciellin in cultured keratinocytes. (PubMed id 14632196)1, 9 Champliaud M.F....Baden H.P. (2003)
    5. Biomechanical stress induces novel arterial intima-en riched genes: implications for vascular adaptation to stress. (PubMed id 19211270)1, 9 Pyle A.L....Young P.P. (2010)
    6. Characterization of sciellin, a precursor to the cornified envelope of human keratinocytes. (PubMed id 1377656)1, 9 Kvedar J.C....Baden H.P. (1992)
    7. Interactions of pathological hallmark proteins: tubul in polymerization promoting protein/p25, beta-amyloid, and alpha-synuclein. (PubMed id 21832049)1 OlA!h J....OvA!di J. (2011)
    8. Toward a confocal subcellular atlas of the human proteome. (PubMed id 18029348)1 Barbe L....Andersson-Svahn H. (2008)
    9. The DNA sequence and analysis of human chromosome 13. (PubMed id 15057823)2 Dunham A.... Ross M.T. (2004)
    10. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)2 Gerhard D.S....Malek J. (2004)

    External Searches for SCEL gene

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Free Text  
      Query String
    		PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    Genome Databases showing SCEL gene

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 8796 HGNC: 10573 AceView: SCEL Ensembl:ENSG00000136155 euGenes: HUgn8796
    ECgene: SCEL H-InvDB: SCEL

    Other Databases showing SCEL gene

    (According to HUGE)
    About This Section
    		   --

    Specialized Databases showing SCEL gene

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for SCEL Pharmacogenomics, SNPs, Pathways

    Intellectual Property
    for SCEL gene

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    		Patent Information for SCEL gene:
    Search GeneIP for patents involving SCEL

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



    Products
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    In Situ Hybridization Assays from
    Advanced Cell Diagnostics
    About This Section

     
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     Regulatory tfbs in SCEL promoter
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     SCEL Proteins, Antibodies, CLIAs, and ELISAs
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    GeneCards Homepage - Last full update: 18 Mar 2013 - Incrementals: 21 Mar 2013 , 15 Apr 2013 , 27 Apr 2013

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