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    SCEL sciellin [ Homo sapiens (human) ]

    Gene ID: 8796, updated on 23-Mar-2024

    Summary

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    Official Symbol
    SCELprovided by HGNC
    Official Full Name
    sciellinprovided by HGNC
    Primary source
    HGNC:HGNC:10573
    See related
    Ensembl:ENSG00000136155 MIM:604112; AllianceGenome:HGNC:10573
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Summary
    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]
    Expression
    Biased expression in esophagus (RPKM 207.5), skin (RPKM 141.4) and 1 other tissue See more
    Orthologs
    mouse all
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    Genomic context

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    Location:
    13q22.3
    Exon count:
    33
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 13 NC_000013.11 (77535706..77645263)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 13 NC_060937.1 (76760544..76870103)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 13 NC_000013.10 (78109841..78219398)

    Chromosome 13 - NC_000013.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC124903186 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7844 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7845 Neighboring gene uncharacterized LOC105370271 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr13:78051956-78052600 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr13:78052601-78053243 Neighboring gene SCEL antisense RNA 1 Neighboring gene RNY3 pseudogene 7 Neighboring gene putative UPF0607 protein ENSP00000383144 Neighboring gene serine palmitoyltransferase long chain base subunit 1 pseudogene 5

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    Related articles in PubMed

    1. Analysis of Sciellin (SCEL) as a candidate gene in esophageal squamous cell carcinoma. Corona W, et al. Anticancer Res, 2004 May-Jun. PMID 15274303
    2. Characterization of sciellin, a precursor to the cornified envelope of human keratinocytes. Kvedar JC, et al. Differentiation, 1992 Apr. PMID 1377656
    3. Sciellin mediates mesenchymal-to-epithelial transition in colorectal cancer hepatic metastasis. Chou CK, et al. Oncotarget, 2016 May 3. PMID 27013588, Free PMC Article
    4. cDNA cloning and characterization of sciellin, a LIM domain protein of the keratinocyte cornified envelope. Champliaud MF, et al. J Biol Chem, 1998 Nov 20. PMID 9813070
    5. Clinical significance and diagnostic value of QPCT, SCEL and TNFRSF12A in papillary thyroid cancer. Liang T, et al. Pathol Res Pract, 2023 May. PMID 37060824

    See all (30) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Sciellin promotes the development and progression of thyroid cancer through the JAK2/STAT3 signaling pathway.
      Title: Sciellin promotes the development and progression of thyroid cancer through the JAK2/STAT3 signaling pathway.
    2. CBX8 promotes lung adenocarcinoma growth and metastasis through transcriptional repression of CDKN2C and SCEL.
      Title: CBX8 promotes lung adenocarcinoma growth and metastasis through transcriptional repression of CDKN2C and SCEL.
    3. Clinical significance and diagnostic value of QPCT, SCEL and TNFRSF12A in papillary thyroid cancer.
      Title: Clinical significance and diagnostic value of QPCT, SCEL and TNFRSF12A in papillary thyroid cancer.
    4. Down-regulation of long non-coding RNA HOTAIR promotes angiogenesis via regulating miR-126/SCEL pathways in burn wound healing.
      Title: Down-regulation of long non-coding RNA HOTAIR promotes angiogenesis via regulating miR-126/SCEL pathways in burn wound healing.
    5. These results demonstrate that SCEL is a mesenchymal-to-epithelial transition inducer dynamically regulated through the metastasis process
      Title: Sciellin mediates mesenchymal-to-epithelial transition in colorectal cancer hepatic metastasis.
    6. Sciellin, SPRR3, and periplakin transcripts were all upregulated (4.67-, 4.95-, 2.77-fold, respectively) by prolonged exposure to cyclic strain (24-72 h), but not at earlier time points.
      Title: Biomechanical stress induces novel arterial intima-enriched genes: implications for vascular adaptation to stress.
    7. Single nucleotide polymorphisms were detected in both matching tumor and normal esophageal tissues but no disease-associated mutations suggesting that SCEL is not a major factor in esophageal squamous cell carcinogenesis.
      Title: Analysis of Sciellin (SCEL) as a candidate gene in esophageal squamous cell carcinoma.
    8. VDUP1 and sciellin were more highly expressed in keratinocytes undergoing differentiation and colocalization of the proteins could be demonstrated
      Title: The expression of vitamin D-upregulated protein 1 in skin and its interaction with sciellin in cultured keratinocytes.
    Submit: New GeneRIF Correction

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • FLJ21667, MGC22531

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables metal ion binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in embryo development ending in birth or egg hatching ISS
    Inferred from Sequence or Structural Similarity
    more info
    		 PubMed 
    involved_in epidermis development IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in epidermis development ISS
    Inferred from Sequence or Structural Similarity
    more info
    		 PubMed 
    involved_in epidermis development TAS
    Traceable Author Statement
    more info
    		 PubMed 
    involved_in keratinocyte differentiation IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in positive regulation of canonical Wnt signaling pathway IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in response to mechanical stimulus IEP
    Inferred from Expression Pattern
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in cornified envelope TAS
    Traceable Author Statement
    more info
    		 PubMed 
    is_active_in cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in cytoplasm IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in cytoplasm ISS
    Inferred from Sequence or Structural Similarity
    more info
    		 PubMed 
    located_in extracellular exosome HDA PubMed 
    located_in perinuclear region of cytoplasm IDA
    Inferred from Direct Assay
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    sciellin

    NCBI Reference Sequences (RefSeq)

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    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_001160706.2 → NP_001154178.1  sciellin isoform 3

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) lacks two in-frame coding exons compared to variant 1. The encoded isoform (3) is shorter compared to isoform 1.
      Source sequence(s)
      AK301659, AL137140, BM973059, DC372982
      Consensus CDS
      CCDS53877.1
      UniProtKB/Swiss-Prot
      O95171
      Related
      ENSP00000437895.1, ENST00000535157.5
      Conserved Domains (1) summary
      smart00132
      Location:578 → 636
      LIM; Zinc-binding domain present in Lin-11, Isl-1, Mec-3

    2. NM_003843.4 → NP_003834.3  sciellin isoform 2

      See identical proteins and their annotated locations for NP_003834.3

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) lacks an in-frame exon in the coding region, compared to variant 1. The encoded isoform (2) is shorter compared to isoform 1.
      Source sequence(s)
      AF045941, AL137140, BC047536, BM973059, DC372982
      Consensus CDS
      CCDS9458.1
      UniProtKB/Swiss-Prot
      O95171
      Related
      ENSP00000366454.3, ENST00000377246.7
      Conserved Domains (1) summary
      smart00132
      Location:600 → 658
      LIM; Zinc-binding domain present in Lin-11, Isl-1, Mec-3

    3. NM_144777.3 → NP_659001.2  sciellin isoform 1

      See identical proteins and their annotated locations for NP_659001.2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).
      Source sequence(s)
      AK222720, AL137140, BC047536, BM973059, DC372982
      Consensus CDS
      CCDS9459.1
      UniProtKB/Swiss-Prot
      B7Z797, F5H651, O95171, Q53H61, Q5W0S8, Q5W0S9, Q86X00
      Related
      ENSP00000302579.5, ENST00000349847.4
      Conserved Domains (1) summary
      smart00132
      Location:620 → 678
      LIM; Zinc-binding domain present in Lin-11, Isl-1, Mec-3

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000013.11 Reference GRCh38.p14 Primary Assembly

      Range
      77535706..77645263
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011535290.2 → XP_011533592.1  sciellin isoform X19

      Conserved Domains (1) summary
      smart00132
      Location:561 → 619
      LIM; Zinc-binding domain present in Lin-11, Isl-1, Mec-3

    2. XM_011535283.2 → XP_011533585.1  sciellin isoform X1

      Conserved Domains (1) summary
      smart00132
      Location:619 → 677
      LIM; Zinc-binding domain present in Lin-11, Isl-1, Mec-3

    3. XM_017020805.2 → XP_016876294.1  sciellin isoform X20

    4. XM_011535291.2 → XP_011533593.1  sciellin isoform X21

      Conserved Domains (1) summary
      smart00132
      Location:523 → 581
      LIM; Zinc-binding domain present in Lin-11, Isl-1, Mec-3

    5. XM_011535286.2 → XP_011533588.1  sciellin isoform X6

      Conserved Domains (1) summary
      smart00132
      Location:600 → 658
      LIM; Zinc-binding domain present in Lin-11, Isl-1, Mec-3

    6. XM_047430710.1 → XP_047286666.1  sciellin isoform X9

    7. XM_047430714.1 → XP_047286670.1  sciellin isoform X22

    8. XM_011535281.2 → XP_011533583.1  sciellin isoform X3

      Conserved Domains (1) summary
      smart00132
      Location:619 → 677
      LIM; Zinc-binding domain present in Lin-11, Isl-1, Mec-3

    9. XM_011535287.2 → XP_011533589.1  sciellin isoform X10

      Conserved Domains (1) summary
      smart00132
      Location:599 → 657
      LIM; Zinc-binding domain present in Lin-11, Isl-1, Mec-3

    10. XM_011535282.2 → XP_011533584.1  sciellin isoform X2

      Conserved Domains (1) summary
      smart00132
      Location:619 → 677
      LIM; Zinc-binding domain present in Lin-11, Isl-1, Mec-3

    11. XM_011535284.2 → XP_011533586.1  sciellin isoform X4

      Conserved Domains (1) summary
      smart00132
      Location:618 → 676
      LIM; Zinc-binding domain present in Lin-11, Isl-1, Mec-3

    12. XM_006719882.2 → XP_006719945.1  sciellin isoform X7

      Conserved Domains (1) summary
      smart00132
      Location:600 → 658
      LIM; Zinc-binding domain present in Lin-11, Isl-1, Mec-3

    13. XM_047430709.1 → XP_047286665.1  sciellin isoform X8

    14. XM_047430712.1 → XP_047286668.1  sciellin isoform X16

    15. XM_006719885.2 → XP_006719948.1  sciellin isoform X15

      Conserved Domains (1) summary
      smart00132
      Location:580 → 638
      LIM; Zinc-binding domain present in Lin-11, Isl-1, Mec-3

    16. XM_011535289.2 → XP_011533591.1  sciellin isoform X17

      Conserved Domains (1) summary
      smart00132
      Location:579 → 637
      LIM; Zinc-binding domain present in Lin-11, Isl-1, Mec-3

    17. XM_006719884.2 → XP_006719947.1  sciellin isoform X11

      Conserved Domains (1) summary
      smart00132
      Location:598 → 656
      LIM; Zinc-binding domain present in Lin-11, Isl-1, Mec-3

    18. XM_047430711.1 → XP_047286667.1  sciellin isoform X12

    19. XM_011535285.3 → XP_011533587.1  sciellin isoform X5

      Conserved Domains (1) summary
      smart00132
      Location:607 → 665
      LIM; Zinc-binding domain present in Lin-11, Isl-1, Mec-3

    20. XM_005266578.2 → XP_005266635.1  sciellin isoform X13

      Conserved Domains (1) summary
      smart00132
      Location:597 → 655
      LIM; Zinc-binding domain present in Lin-11, Isl-1, Mec-3

    21. XM_047430713.1 → XP_047286669.1  sciellin isoform X18

    22. XM_011535288.2 → XP_011533590.1  sciellin isoform X14

      Conserved Domains (1) summary
      smart00132
      Location:584 → 642
      LIM; Zinc-binding domain present in Lin-11, Isl-1, Mec-3

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060937.1 Alternate T2T-CHM13v2.0

      Range
      76760544..76870103
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054375099.1 → XP_054231074.1  sciellin isoform X19

    2. XM_054375081.1 → XP_054231056.1  sciellin isoform X1

    3. XM_054375100.1 → XP_054231075.1  sciellin isoform X20

    4. XM_054375101.1 → XP_054231076.1  sciellin isoform X21

    5. XM_054375086.1 → XP_054231061.1  sciellin isoform X6

    6. XM_054375089.1 → XP_054231064.1  sciellin isoform X9

    7. XM_054375102.1 → XP_054231077.1  sciellin isoform X22

    8. XM_054375083.1 → XP_054231058.1  sciellin isoform X3

    9. XM_054375090.1 → XP_054231065.1  sciellin isoform X10

    10. XM_054375082.1 → XP_054231057.1  sciellin isoform X2

    11. XM_054375084.1 → XP_054231059.1  sciellin isoform X4

    12. XM_054375087.1 → XP_054231062.1  sciellin isoform X7

    13. XM_054375088.1 → XP_054231063.1  sciellin isoform X8

    14. XM_054375096.1 → XP_054231071.1  sciellin isoform X16

    15. XM_054375095.1 → XP_054231070.1  sciellin isoform X15

    16. XM_054375097.1 → XP_054231072.1  sciellin isoform X17

    17. XM_054375091.1 → XP_054231066.1  sciellin isoform X11

    18. XM_054375092.1 → XP_054231067.1  sciellin isoform X12

    19. XM_054375085.1 → XP_054231060.1  sciellin isoform X5

    20. XM_054375093.1 → XP_054231068.1  sciellin isoform X13

    21. XM_054375098.1 → XP_054231073.1  sciellin isoform X18

    22. XM_054375094.1 → XP_054231069.1  sciellin isoform X14

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    O95171.2 GenPept UniProtKB/Swiss-Prot:O95171

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