TMPRSS11A (transmembrane serine protease 11A)

Gene

• Entrez ID: 339967
• Gene name: Transmembrane serine protease 11A
• Gene symbol: TMPRSS11A
• Synonyms (NCBI Gene): ECRG1, HATL1, HESP
• Chromosome: 4
• Chromosome location: 4q13.2

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT019407	hsa-miR-148b-3p	Microarray	17612493
MIRT025177	hsa-miR-181a-5p	Microarray	17612493
MIRT1440849	hsa-miR-2114	CLIP-seq
MIRT1440850	hsa-miR-3137	CLIP-seq
MIRT1440851	hsa-miR-340	CLIP-seq
MIRT1440852	hsa-miR-3908	CLIP-seq
MIRT1440853	hsa-miR-3942-5p	CLIP-seq
MIRT1440854	hsa-miR-4687-3p	CLIP-seq
MIRT1440855	hsa-miR-4703-5p	CLIP-seq
MIRT1440856	hsa-miR-4737	CLIP-seq
MIRT1440857	hsa-miR-4766-3p	CLIP-seq
MIRT1440858	hsa-miR-548n	CLIP-seq
MIRT1440859	hsa-miR-548t	CLIP-seq
MIRT1440860	hsa-miR-647	CLIP-seq
MIRT2353139	hsa-miR-3679-3p	CLIP-seq
MIRT2353140	hsa-miR-4698	CLIP-seq
MIRT2461985	hsa-miR-338-5p	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0004252	Function	Serine-type endopeptidase activity	IEA
GO:0005576	Component	Extracellular region	IEA
GO:0005886	Component	Plasma membrane	IBA
GO:0005886	Component	Plasma membrane	IEA
GO:0006508	Process	Proteolysis	IEA
GO:0008233	Function	Peptidase activity	IEA
GO:0008236	Function	Serine-type peptidase activity	IBA
GO:0008236	Function	Serine-type peptidase activity	IEA
GO:0016020	Component	Membrane	IEA
GO:0016787	Function	Hydrolase activity	IEA

Other IDs

• MIM: 611704
• HGNC: 27954
• e!Ensembl: ENSG00000187054

Protein

• UniProt ID: Q6ZMR5
• Protein name: Transmembrane protease serine 11A (EC 3.4.21.-) (Airway trypsin-like protease 1) (Epidermal type-II transmembrane serine protease) (Esophageal cancer-susceptibility gene 1 protein)
• Protein function: Probable serine protease which may play a role in cellular senescence. Overexpression inhibits cell growth and induce G1 cell cycle arrest.
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF01390	SEA	49 → 156	SEA domain	Family
  PF00089	Trypsin	190 → 415	Trypsin	Domain

• Tissue specificity: TISSUE SPECIFICITY: Expressed in esophagus, liver, colon and lung. Down-regulated in esophagus cancers. {ECO:0000269|PubMed:10920976}.
• Sequence:

  MMYRTVGFGTRSRNLKPWMIAVLIVLSLTVVAVTIGLLVHFLVFDQKKEYYHGSFKILDP
  QINNNFGQSNTYQLKDLRETTENLVSQVDEIFIDSAWKKNYIKNQVVRLTPEEDGVKVDV
  IMVFQFPSTEQRAVREKKIQSILNQKIRNLRALPINASSVQVNAMSSSTGELTVQASCGK
  RVVPLNVNRIASGVIAPKAAWPWQASLQYDNIHQCGATLISNTWLVTAAHCFQKYKNPHQ
  WTVSFGTKINPPLMKRNVRRFIIHEKYRSAAREYDIAVVQVSSRVTFSDDIRRICLPEAS
  ASFQPNLTVHITGFGALYYGGESQNDLREARVKIISDDVCKQPQVYGNDIKPGMFCAGYM
  EGIYDACRGDSGGPLVTRDLKDTWYLIGIVSWGDNCGQKDKPGVYTQVTYYRNWIASKTG
  I

• Sequence length: 421

Associated diseases

Evidence Score:

• ★☆☆☆☆  Gene-disease association found in Text Mining only
• ★★☆☆☆  Found in Text Mining and Unknown/Other Associations
• ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources
• ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
• ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
DEMENTIA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Carcinoma, Neuroendocrine	Carcinoma	BEFREE	17971341		★☆☆☆☆ Found in Text Mining only
Deglutition Disorders	Deglutition disorder	Pubtator	21517269	Associate	★☆☆☆☆ Found in Text Mining only
Esophageal carcinoma	Esophageal Carcinoma	BEFREE	16267096, 17971341, 19052822, 21517269, 23869757		★☆☆☆☆ Found in Text Mining only
Esophageal Neoplasms	Esophagus Neoplasm	BEFREE	16267096, 17971341, 19052822, 21517269, 23869757		★☆☆☆☆ Found in Text Mining only
Esophageal Neoplasms	Esophagus Neoplasm	LHGDN	17971341		★☆☆☆☆ Found in Text Mining only
Esophageal Neoplasms	Esophageal neoplasm	Pubtator	21288367, 21517269	Associate	★☆☆☆☆ Found in Text Mining only
Esophageal Squamous Cell Carcinoma	Esophageal squamous cell carcinoma	Pubtator	21288367, 21517269	Associate	★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of esophagus	Esophagus Neoplasm	BEFREE	16267096, 17971341, 19052822, 21517269, 23869757		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	21517269		★☆☆☆☆ Found in Text Mining only
Necrotizing enterocolitis in fetus OR newborn	Necrotizing Enterocolitis	BEFREE	17971341		★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	16267096, 17971341, 19394797, 21517269, 23869757		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma	Carcinoma	BEFREE	19394797		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of esophagus	Esophagus Neoplasm	BEFREE	16267096, 19052822, 19394797, 21517269, 23869757		★☆☆☆☆ Found in Text Mining only
Squamous Cell Carcinoma of Head and Neck	Squamous cell carcinoma	Pubtator	23481570	Associate	★☆☆☆☆ Found in Text Mining only