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

Gene ID: 28983, updated on 9-Dec-2024

Summary

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
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Genomic context

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

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

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

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_014058.4NP_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:192420
    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:51156
    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_011531896.3XP_011530198.1  transmembrane protease serine 11E isoform X1

    UniProtKB/TrEMBL
    Q4W5P3
    Conserved Domains (3) summary
    smart00020
    Location:113339
    Tryp_SPc; Trypsin-like serine protease
    cd00190
    Location:114342
    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:168
    SEA; SEA domain
  2. XM_047450139.1XP_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_054328542.1XP_054184517.1  transmembrane protease serine 11E isoform X1

    UniProtKB/TrEMBL
    Q4W5P3
  2. XM_054328541.1XP_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_054349835.1XP_054205810.1  transmembrane protease serine 11E isoform X1

    UniProtKB/TrEMBL
    Q4W5P3
  2. XM_054349834.1XP_054205809.1  transmembrane protease serine 11E isoform X1

    UniProtKB/TrEMBL
    Q4W5P3