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    TMPRSS11E transmembrane serine protease 11E [ Homo sapiens (human) ]

    Gene ID: 28983, updated on 10-Dec-2024

    Summary

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    Official Symbol
    TMPRSS11Eprovided by HGNC
    Official Full Name
    transmembrane serine protease 11Eprovided by HGNC
    Primary source
    HGNC:HGNC:24465
    See related
    Ensembl:ENSG00000087128 MIM:610399; AllianceGenome:HGNC:24465
    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
    Also known as
    DESC1; TMPRSS11E2
    Summary
    Predicted to enable serine-type peptidase activity. Involved in cognition. Predicted to be located in extracellular region and membrane. Predicted to be active in plasma membrane. [provided by Alliance of Genome Resources, Dec 2024]
    Expression
    Restricted expression toward esophagus (RPKM 128.8) See more
    Orthologs
    all
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    Genomic context

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    See TMPRSS11E in Genome Data Viewer
    Location:
    4q13.2
    Exon count:
    11
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 4 NC_000004.12 (68447463..68497604)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 4 NC_060928.1 (71888583..71938685)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 4 NC_000004.11 (69313181..69363322)

    Chromosome 4 - NC_000004.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC124900917 Neighboring gene H3K27ac hESC enhancer GRCh37_chr4:69254602-69255158 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr4:69255159-69255714 Neighboring gene metallothionein 2 pseudogene 1 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr4:69269799-69270498 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr4:69271199-69271898 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr4:69271899-69272598 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr4:69272599-69273298 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr4:69273299-69273996 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr4:69275704-69276462 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr4:69317044-69317627 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr4:69317628-69318210 Neighboring gene UDP glucuronosyltransferase family 2 member B29, pseudogene Neighboring gene UDP glucuronosyltransferase family 2 member B17

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: Tissue-specific circular RNA induction during human fetal development
    • Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
    • BioProject: PRJNA270632
    • Publication: PMID 26076956
    • Analysis date: Mon Apr 2 22:54:59 2018

    Bibliography

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    Related articles in PubMed

    1. Elevated expression of the membrane-anchored serine protease TMPRSS11E in NSCLC progression. Li S, et al. Carcinogenesis, 2022 Dec 25. PMID 35951670
    2. Differential expression of a novel serine protease homologue in squamous cell carcinoma of the head and neck. Lang JC, et al. Br J Cancer, 2001 Jan. PMID 11161383, Free PMC Article
    3. DESC1, a novel tumor suppressor, sensitizes cells to apoptosis by downregulating the EGFR/AKT pathway in esophageal squamous cell carcinoma. Ng HY, et al. Int J Cancer, 2016 Jun 15. PMID 26856390
    4. Crystal structure of the catalytic domain of DESC1, a new member of the type II transmembrane serine proteinase family. Kyrieleis OJ, et al. FEBS J, 2007 Apr. PMID 17388811
    5. DESC1 and MSPL activate influenza A viruses and emerging coronaviruses for host cell entry. Zmora P, et al. J Virol, 2014 Oct. PMID 25122802, Free PMC Article

    See all (17) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Elevated expression of the membrane-anchored serine protease TMPRSS11E in NSCLC progression.
      Title: Elevated expression of the membrane-anchored serine protease TMPRSS11E in NSCLC progression.
    2. DESC1 may suppress esophageal squamous cell carcinoma development by sensitizing cells to apoptosis under an apoptotic stimulus through downregulating the EGFR/AKT signaling pathway.
      Title: DESC1, a novel tumor suppressor, sensitizes cells to apoptosis by downregulating the EGFR/AKT pathway in esophageal squamous cell carcinoma.
    3. study demonstrates that two cellular serine proteases, DESC1 and MSPL, activate influenza viruses and emerging coronaviruses in cell culture and, because of their expression in human lung tissue, might promote viral spread in the infected host
      Title: DESC1 and MSPL activate influenza A viruses and emerging coronaviruses for host cell entry.
    4. The domain of DESC1 exhibits a trypsin-like serine proteinase fold with a thrombin-like S1 pocket, a urokinase-type plasminogen activator-type S2 pocket, to accept small residues, and an open hydrophobic S3/S4 cavity to accept large hydrophobic residues.
      Title: Crystal structure of the catalytic domain of DESC1, a new member of the type II transmembrane serine proteinase family.
    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)

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • FLJ75331, FLJ94490, MGC141972, MGC141974

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables serine-type endopeptidase activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables serine-type peptidase activity ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    Process Evidence Code Pubs
    involved_in cognition IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in proteolysis ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    Component Evidence Code Pubs
    located_in extracellular region IEA
    Inferred from Electronic Annotation
    more info
    		  
    is_active_in plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in plasma membrane ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  

    General protein information

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    Preferred Names
    transmembrane protease serine 11E
    Names
    serine protease DESC1
    transmembrane protease serine 11E2
    transmembrane protease, serine 11E
    NP_054777.2
    XP_011530198.1
    XP_047306095.1
    XP_054184516.1
    XP_054184517.1
    XP_054205809.1
    XP_054205810.1

    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_014058.4 → NP_054777.2  transmembrane protease serine 11E precursor

      See identical proteins and their annotated locations for NP_054777.2

      Status: VALIDATED

      Source sequence(s)
      AC079749, AY359017, DB013544
      Consensus CDS
      CCDS33993.1
      UniProtKB/Swiss-Prot
      A6NL71, Q14DC8, Q6UW31, Q9UL52
      UniProtKB/TrEMBL
      A0A0G2JNI0, A8K9S2
      Related
      ENSP00000307519.4, ENST00000305363.9
      Conserved Domains (2) summary
      cd00190
      Location:192 → 420
      Tryp_SPc; Trypsin-like serine protease; Many of these are synthesized as inactive precursor zymogens that are cleaved during limited proteolysis to generate their active forms. Alignment contains also inactive enzymes that have substitutions of the catalytic triad ...
      pfam01390
      Location:51 → 156
      SEA; SEA domain

    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_000004.12 Reference GRCh38.p14 Primary Assembly

      Range
      68447463..68497604
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011531896.3 → XP_011530198.1  transmembrane protease serine 11E isoform X1

      UniProtKB/TrEMBL
      Q4W5P3
      Conserved Domains (3) summary
      smart00020
      Location:113 → 339
      Tryp_SPc; Trypsin-like serine protease
      cd00190
      Location:114 → 342
      Tryp_SPc; Trypsin-like serine protease; Many of these are synthesized as inactive precursor zymogens that are cleaved during limited proteolysis to generate their active forms. Alignment contains also inactive enzymes that have substitutions of the catalytic triad ...
      pfam01390
      Location:1 → 68
      SEA; SEA domain

    2. XM_047450139.1 → XP_047306095.1  transmembrane protease serine 11E isoform X1

      UniProtKB/TrEMBL
      Q4W5P3

    Reference GRCh38.p14 ALT_REF_LOCI_1

    Genomic

    1. NT_167250.2 Reference GRCh38.p14 ALT_REF_LOCI_1

      Range
      141154..191291
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054328542.1 → XP_054184517.1  transmembrane protease serine 11E isoform X1

      UniProtKB/TrEMBL
      Q4W5P3

    2. XM_054328541.1 → XP_054184516.1  transmembrane protease serine 11E isoform X1

      UniProtKB/TrEMBL
      Q4W5P3

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060928.1 Alternate T2T-CHM13v2.0

      Range
      71888583..71938685
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054349835.1 → XP_054205810.1  transmembrane protease serine 11E isoform X1

      UniProtKB/TrEMBL
      Q4W5P3

    2. XM_054349834.1 → XP_054205809.1  transmembrane protease serine 11E isoform X1

      UniProtKB/TrEMBL
      Q4W5P3
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9UL52.2 GenPept UniProtKB/Swiss-Prot:Q9UL52

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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