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SCEL sciellin [ Homo sapiens (human) ]

Gene ID: 8796, updated on 13-Mar-2020

Summary

Official Symbol
SCELprovided by HGNC
Official Full Name
sciellinprovided by HGNC
Primary source
HGNC:HGNC:10573
See related
Ensembl:ENSG00000136155 MIM:604112
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

Genomic context

See SCEL in Genome Data Viewer
Location:
13q22.3
Exon count:
33
Annotation release Status Assembly Chr Location
109.20200228 current GRCh38.p13 (GCF_000001405.39) 13 NC_000013.11 (77535674..77645263)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 13 NC_000013.10 (78109809..78219398)

Chromosome 13 - NC_000013.11Genomic Context describing neighboring genes Neighboring gene Sharpr-MPRA regulatory region 1150 Neighboring gene uncharacterized LOC105370271 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

Expression

  • 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

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ21667, MGC22531

Gene Ontology Provided by GOA

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

NCBI Reference Sequences (RefSeq)

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_001160706.1NP_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:578636
    LIM; Zinc-binding domain present in Lin-11, Isl-1, Mec-3
  2. NM_003843.4NP_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:600658
    LIM; Zinc-binding domain present in Lin-11, Isl-1, Mec-3
  3. NM_144777.3NP_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
    O95171
    Related
    ENSP00000302579.5, ENST00000349847.4
    Conserved Domains (1) summary
    smart00132
    Location:620678
    LIM; Zinc-binding domain present in Lin-11, Isl-1, Mec-3

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000013.11 Reference GRCh38.p13 Primary Assembly

    Range
    77535674..77645263
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_005266578.1XP_005266635.1  sciellin isoform X10

    Conserved Domains (1) summary
    smart00132
    Location:597655
    LIM; Zinc-binding domain present in Lin-11, Isl-1, Mec-3
  2. XM_011535290.1XP_011533592.1  sciellin isoform X14

    Conserved Domains (1) summary
    smart00132
    Location:561619
    LIM; Zinc-binding domain present in Lin-11, Isl-1, Mec-3
  3. XM_011535283.1XP_011533585.1  sciellin isoform X3

    Conserved Domains (1) summary
    smart00132
    Location:619677
    LIM; Zinc-binding domain present in Lin-11, Isl-1, Mec-3
  4. XM_017020805.1XP_016876294.1  sciellin isoform X15

  5. XM_011535291.1XP_011533593.1  sciellin isoform X16

    Conserved Domains (1) summary
    smart00132
    Location:523581
    LIM; Zinc-binding domain present in Lin-11, Isl-1, Mec-3
  6. XM_011535286.1XP_011533588.1  sciellin isoform X6

    Conserved Domains (1) summary
    smart00132
    Location:600658
    LIM; Zinc-binding domain present in Lin-11, Isl-1, Mec-3
  7. XM_011535281.1XP_011533583.1  sciellin isoform X1

    Conserved Domains (1) summary
    smart00132
    Location:619677
    LIM; Zinc-binding domain present in Lin-11, Isl-1, Mec-3
  8. XM_011535287.1XP_011533589.1  sciellin isoform X8

    Conserved Domains (1) summary
    smart00132
    Location:599657
    LIM; Zinc-binding domain present in Lin-11, Isl-1, Mec-3
  9. XM_011535282.1XP_011533584.1  sciellin isoform X2

    Conserved Domains (1) summary
    smart00132
    Location:619677
    LIM; Zinc-binding domain present in Lin-11, Isl-1, Mec-3
  10. XM_011535284.1XP_011533586.1  sciellin isoform X4

    Conserved Domains (1) summary
    smart00132
    Location:618676
    LIM; Zinc-binding domain present in Lin-11, Isl-1, Mec-3
  11. XM_006719882.1XP_006719945.1  sciellin isoform X7

    Conserved Domains (1) summary
    smart00132
    Location:600658
    LIM; Zinc-binding domain present in Lin-11, Isl-1, Mec-3
  12. XM_006719885.1XP_006719948.1  sciellin isoform X12

    Conserved Domains (1) summary
    smart00132
    Location:580638
    LIM; Zinc-binding domain present in Lin-11, Isl-1, Mec-3
  13. XM_011535289.1XP_011533591.1  sciellin isoform X13

    Conserved Domains (1) summary
    smart00132
    Location:579637
    LIM; Zinc-binding domain present in Lin-11, Isl-1, Mec-3
  14. XM_006719884.1XP_006719947.1  sciellin isoform X9

    Conserved Domains (1) summary
    smart00132
    Location:598656
    LIM; Zinc-binding domain present in Lin-11, Isl-1, Mec-3
  15. XM_011535288.1XP_011533590.1  sciellin isoform X11

    Conserved Domains (1) summary
    smart00132
    Location:584642
    LIM; Zinc-binding domain present in Lin-11, Isl-1, Mec-3
  16. XM_011535285.2XP_011533587.1  sciellin isoform X5

    Conserved Domains (1) summary
    smart00132
    Location:607665
    LIM; Zinc-binding domain present in Lin-11, Isl-1, Mec-3
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