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SCEL sciellin [ Homo sapiens (human) ]

Gene ID: 8796, updated on 2-Nov-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
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Genomic context

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See SCEL in Genome Data Viewer
Location:
13q22.3
Exon count:
33
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 13 NC_000013.11 (77535706..77645263)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 13 NC_060937.1 (76760544..76870103)
RS_2024_09 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 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. Characterization of sciellin, a precursor to the cornified envelope of human keratinocytes. Kvedar JC, et al. Differentiation, 1992 Apr. PMID 1377656
  2. Analysis of Sciellin (SCEL) as a candidate gene in esophageal squamous cell carcinoma. Corona W, et al. Anticancer Res, 2004 May-Jun. PMID 15274303
  3. 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
  4. Sciellin mediates mesenchymal-to-epithelial transition in colorectal cancer hepatic metastasis. Chou CK, et al. Oncotarget, 2016 May 3. PMID 27013588, Free PMC Article
  5. CBX8 promotes lung adenocarcinoma growth and metastasis through transcriptional repression of CDKN2C and SCEL. Chen H, et al. J Cell Physiol, 2023 Nov. PMID 37733753

See all (33) 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.
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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_2024_08

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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