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Aliases for TMPRSS11A Gene

Aliases for TMPRSS11A Gene

  • Transmembrane Protease, Serine 11A 2 3 5
  • Epidermal Type-II Transmembrane Serine Protease 3 4
  • Esophageal Cancer-Susceptibility Gene 1 Protein 3 4
  • Airway Trypsin-Like Protease 1 3 4
  • ECRG1 3 4
  • Transmembrane Protease Serine 11A 3
  • EC 3.4.21.- 4
  • EC 3.4.21 61
  • HATL1 4
  • HESP 4

External Ids for TMPRSS11A Gene

Previous GeneCards Identifiers for TMPRSS11A Gene

  • GC04M068605
  • GC04M068459
  • GC04M068776
  • GC04M064689

Summaries for TMPRSS11A Gene

GeneCards Summary for TMPRSS11A Gene

TMPRSS11A (Transmembrane Protease, Serine 11A) is a Protein Coding gene. Diseases associated with TMPRSS11A include Esophageal Cancer and Iron-Refractory Iron Deficiency Anemia. GO annotations related to this gene include serine-type endopeptidase activity. An important paralog of this gene is TMPRSS11F.

UniProtKB/Swiss-Prot for TMPRSS11A Gene

  • Probable serine protease which may play a role in cellular senescence. Overexpression inhibits cell growth and induce G1 cell cycle arrest.

No data available for Entrez Gene Summary , CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for TMPRSS11A Gene

Genomics for TMPRSS11A Gene

Regulatory Elements for TMPRSS11A Gene

Enhancers for TMPRSS11A Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH04G067884 0.9 Ensembl ENCODE 0.2 +78.2 78191 2.8 JUN BHLHE40 ZNF384 RAD21 JUND ATF4 HNF4A FOS MAFK NFE2L2 TMPRSS11GP UGT2B15 TMPRSS11D TMPRSS11A
GH04G067928 0.6 ENCODE 0.3 +35.4 35370 0.1 NFIB DPF2 ZKSCAN1 FOXA1 ZNF217 GATA3 CTBP1 RCOR1 CUX1 TMPRSS11D TMPRSS11A
GH04G067929 0.5 ENCODE 0.3 +34.5 34483 0.2 JUND STAT3 CEBPB EP300 TMPRSS11D TMPRSS11A
GH04G067910 0.5 ENCODE 0.2 +52.8 52781 1.4 CTCF MYNN REST HNF4A RAD21 TMPRSS11GP TMPRSS11D TMPRSS11A
GH04G067934 0.2 ENCODE 0.3 +29.2 29165 0.7 TMPRSS11D TMPRSS11A
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around TMPRSS11A on UCSC Golden Path with GeneCards custom track

Genomic Location for TMPRSS11A Gene

Chromosome:
4
Start:
67,909,385 bp from pter
End:
67,964,140 bp from pter
Size:
54,756 bases
Orientation:
Minus strand

Genomic View for TMPRSS11A Gene

Genes around TMPRSS11A on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
TMPRSS11A Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for TMPRSS11A Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for TMPRSS11A Gene

Proteins for TMPRSS11A Gene

  • Protein details for TMPRSS11A Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q6ZMR5-TM11A_HUMAN
    Recommended name:
    Transmembrane protease serine 11A
    Protein Accession:
    Q6ZMR5
    Secondary Accessions:
    • J3KNQ8
    • Q2NKI9
    • Q6JE90
    • Q7RTY4
    • Q86TK8

    Protein attributes for TMPRSS11A Gene

    Size:
    421 amino acids
    Molecular mass:
    47569 Da
    Quaternary structure:
    • May interact with ZBTB17.
    SequenceCaution:
    • Sequence=AAD41463.1; Type=Frameshift; Positions=371; Evidence={ECO:0000305}; Sequence=CAD67985.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305};

    Alternative splice isoforms for TMPRSS11A Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for TMPRSS11A Gene

Selected DME Specific Peptides for TMPRSS11A Gene

Q6ZMR5:
  • GDSGGPL
  • DIAVVQV
  • WIASKTG

Post-translational modifications for TMPRSS11A Gene

  • Glycosylation at isoforms=2156 and Asn306
  • Modification sites at PhosphoSitePlus

Other Protein References for TMPRSS11A Gene

Domains & Families for TMPRSS11A Gene

Gene Families for TMPRSS11A Gene

Suggested Antigen Peptide Sequences for TMPRSS11A Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q6ZMR5

UniProtKB/Swiss-Prot:

TM11A_HUMAN :
  • Belongs to the peptidase S1 family.
Family:
  • Belongs to the peptidase S1 family.
genes like me logo Genes that share domains with TMPRSS11A: view

Function for TMPRSS11A Gene

Molecular function for TMPRSS11A Gene

UniProtKB/Swiss-Prot Function:
Probable serine protease which may play a role in cellular senescence. Overexpression inhibits cell growth and induce G1 cell cycle arrest.

Enzyme Numbers (IUBMB) for TMPRSS11A Gene

Gene Ontology (GO) - Molecular Function for TMPRSS11A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004252 serine-type endopeptidase activity IEA --
GO:0008233 peptidase activity IEA --
GO:0008236 serine-type peptidase activity IEA --
GO:0016787 hydrolase activity IEA --
genes like me logo Genes that share ontologies with TMPRSS11A: view
genes like me logo Genes that share phenotypes with TMPRSS11A: view

Animal Models for TMPRSS11A Gene

MGI Knock Outs for TMPRSS11A:

Animal Model Products

CRISPR Products

miRNA for TMPRSS11A Gene

miRTarBase miRNAs that target TMPRSS11A

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

No data available for Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for TMPRSS11A Gene

Localization for TMPRSS11A Gene

Subcellular locations from UniProtKB/Swiss-Prot for TMPRSS11A Gene

Membrane; Single-pass type II membrane protein.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for TMPRSS11A gene
Compartment Confidence
extracellular 3
plasma membrane 2
golgi apparatus 2
lysosome 1

Gene Ontology (GO) - Cellular Components for TMPRSS11A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region IEA --
GO:0005887 integral component of plasma membrane IEA --
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with TMPRSS11A: view

Pathways & Interactions for TMPRSS11A Gene

SuperPathways for TMPRSS11A Gene

No Data Available

Gene Ontology (GO) - Biological Process for TMPRSS11A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006508 proteolysis IEA --
GO:0007049 cell cycle IEA --
genes like me logo Genes that share ontologies with TMPRSS11A: view

No data available for Pathways by source and SIGNOR curated interactions for TMPRSS11A Gene

Drugs & Compounds for TMPRSS11A Gene

(1) Drugs for TMPRSS11A Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
genes like me logo Genes that share compounds with TMPRSS11A: view

Transcripts for TMPRSS11A Gene

mRNA/cDNA for TMPRSS11A Gene

(2) REFSEQ mRNAs :
(5) Additional mRNA sequences :
(9) Selected AceView cDNA sequences:
(3) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for TMPRSS11A Gene

Transmembrane protease, serine 11A:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for TMPRSS11A Gene

ExUns: 1a · 1b ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8a · 8b
SP1: -
SP2:
SP3: - -

Relevant External Links for TMPRSS11A Gene

GeneLoc Exon Structure for
TMPRSS11A
ECgene alternative splicing isoforms for
TMPRSS11A

Expression for TMPRSS11A Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for TMPRSS11A Gene

mRNA differential expression in normal tissues according to GTEx for TMPRSS11A Gene

This gene is overexpressed in Esophagus - Mucosa (x21.1), Vagina (x13.5), Minor Salivary Gland (x10.6), and Cervix - Ectocervix (x7.2).

Protein differential expression in normal tissues from HIPED for TMPRSS11A Gene

This gene is overexpressed in Cervix (69.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for TMPRSS11A Gene



Protein tissue co-expression partners for TMPRSS11A Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of TMPRSS11A Gene:

TMPRSS11A

SOURCE GeneReport for Unigene cluster for TMPRSS11A Gene:

Hs.450110

mRNA Expression by UniProt/SwissProt for TMPRSS11A Gene:

Q6ZMR5-TM11A_HUMAN
Tissue specificity: Expressed in esophagus, liver, colon and lung. Down-regulated in esophagus cancers.
genes like me logo Genes that share expression patterns with TMPRSS11A: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , Evidence on tissue expression from TISSUES and Phenotype-based relationships between genes and organs from Gene ORGANizer for TMPRSS11A Gene

Orthologs for TMPRSS11A Gene

This gene was present in the common ancestor of chordates.

Orthologs for TMPRSS11A Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia TMPRSS11A 34 35
  • 99.28 (n)
dog
(Canis familiaris)
Mammalia TMPRSS11A 34 35
  • 85.93 (n)
cow
(Bos Taurus)
Mammalia TMPRSS11A 34 35
  • 85.29 (n)
mouse
(Mus musculus)
Mammalia Tmprss11a 34 16 35
  • 80 (n)
rat
(Rattus norvegicus)
Mammalia Tmprss11a 34
  • 76.71 (n)
oppossum
(Monodelphis domestica)
Mammalia TMPRSS11A 35
  • 68 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia TMPRSS11A 35
  • 63 (a)
OneToOne
chicken
(Gallus gallus)
Aves -- 35
  • 41 (a)
OneToMany
lizard
(Anolis carolinensis)
Reptilia -- 35
  • 43 (a)
OneToMany
Species where no ortholog for TMPRSS11A was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)
  • zebrafish (Danio rerio)

Evolution for TMPRSS11A Gene

ENSEMBL:
Gene Tree for TMPRSS11A (if available)
TreeFam:
Gene Tree for TMPRSS11A (if available)

Paralogs for TMPRSS11A Gene

Pseudogenes.org Pseudogenes for TMPRSS11A Gene

genes like me logo Genes that share paralogs with TMPRSS11A: view

Variants for TMPRSS11A Gene

Sequence variations from dbSNP and Humsavar for TMPRSS11A Gene

SNP ID Clin Chr 04 pos Sequence Context AA Info Type
rs1000001551 -- 67,917,155(+) TCCTT(C/G)CTTAT intron-variant
rs1000018024 -- 67,938,727(+) TGTGT(A/G)GCTTT intron-variant
rs1000122246 -- 67,929,187(+) ATTTG(C/T)GTACG intron-variant
rs1000159763 -- 67,913,942(+) ATCCA(C/T)GTTAG intron-variant
rs10001655 -- 67,942,728(+) TGCTT(C/G)CAGAA intron-variant

Structural Variations from Database of Genomic Variants (DGV) for TMPRSS11A Gene

Variant ID Type Subtype PubMed ID
dgv658n27 CNV loss 19166990
dgv9101n54 CNV loss 21841781
esv22957 CNV gain 19812545
esv2759257 CNV gain 17122850
esv3348287 CNV insertion 20981092
esv35010 CNV gain 17911159
esv3600856 CNV gain 21293372
esv3600857 CNV gain 21293372
nsv1007376 CNV gain 25217958
nsv10514 CNV gain 18304495
nsv433367 CNV gain 18776910
nsv469718 CNV gain 16826518
nsv470043 CNV loss 18288195
nsv514221 CNV gain 21397061
nsv818242 CNV gain 17921354
nsv829960 CNV loss 17160897

Variation tolerance for TMPRSS11A Gene

Residual Variation Intolerance Score: 83.3% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 5.06; 68.80% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for TMPRSS11A Gene

Human Gene Mutation Database (HGMD)
TMPRSS11A
SNPedia medical, phenotypic, and genealogical associations of SNPs for
TMPRSS11A

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for TMPRSS11A Gene

Disorders for TMPRSS11A Gene

MalaCards: The human disease database

(5) MalaCards diseases for TMPRSS11A Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
esophageal cancer
  • esophageal cancer, somatic
iron-refractory iron deficiency anemia
  • anemia, hypochromic microcytic, with defect in iron metabolism
ichthyosis, follicular
  • follicular ichthyosis
avian influenza
  • avian flu
iron deficiency anemia
- elite association - COSMIC cancer census association via MalaCards

Relevant External Links for TMPRSS11A

Genetic Association Database (GAD)
TMPRSS11A
Human Genome Epidemiology (HuGE) Navigator
TMPRSS11A
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
TMPRSS11A
genes like me logo Genes that share disorders with TMPRSS11A: view

No data available for UniProtKB/Swiss-Prot and Genatlas for TMPRSS11A Gene

Publications for TMPRSS11A Gene

  1. Mouse DESC1 is located within a cluster of seven DESC1-like genes and encodes a type II transmembrane serine protease that forms serpin inhibitory complexes. (PMID: 15328353) Hobson J.P. … Bugge T.H. (J. Biol. Chem. 2004) 2 3 22 64
  2. Polymorphism Arg290Arg in esophageal-cancer-related gene 1 (ECRG1) is a prognostic factor for survival in esophageal cancer. (PMID: 19052822) Bachmann K. … Strate T. (J. Gastrointest. Surg. 2009) 3 46 64
  3. Single nucleotide polymorphism in esophageal cancer related gene 1: an analysis in resected oral squamous cell carcinoma patients. (PMID: 19394797) Blessmann M. … Izbicki J.R. (Int J Oral Maxillofac Surg 2009) 3 46 64
  4. Candidate gene association study of esophageal squamous cell carcinoma in a high-risk region in Iran. (PMID: 19826048) Akbari M.R. … Narod S.A. (Cancer Res. 2009) 3 46 64
  5. ECRG1, a novel esophageal gene, cloned and identified from human esophagus and its inhibition effect on tumors. (PMID: 17971341) Yueying W. … Shih-Hsin L. (Carcinogenesis 2008) 3 22 64

Products for TMPRSS11A Gene

Sources for TMPRSS11A Gene

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