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TMPRSS11A transmembrane serine protease 11A [ Homo sapiens (human) ]

Gene ID: 339967, updated on 5-Jan-2022

Summary

Official Symbol
TMPRSS11Aprovided by HGNC
Official Full Name
transmembrane serine protease 11Aprovided by HGNC
Primary source
HGNC:HGNC:27954
See related
Ensembl:ENSG00000187054 MIM:611704
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
HESP; ECRG1; HATL1
Summary
Predicted to enable serine-type endopeptidase activity. Predicted to be involved in proteolysis. Predicted to be located in extracellular region. Predicted to be integral component of plasma membrane. [provided by Alliance of Genome Resources, Nov 2021]
Expression
Restricted expression toward esophagus (RPKM 55.7) See more
Orthologs
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Genomic context

See TMPRSS11A in Genome Data Viewer
Location:
4q13.2
Exon count:
10
Annotation release Status Assembly Chr Location
109.20211119 current GRCh38.p13 (GCF_000001405.39) 4 NC_000004.12 (67909395..67963493, complement)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 4 NC_000004.11 (68775113..68829211, complement)

Chromosome 4 - NC_000004.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC102724780 Neighboring gene transmembrane serine protease 11D Neighboring gene transmembrane serine protease 11G, pseudogene Neighboring gene RNA, U6 small nuclear 95, pseudogene

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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • MGC133183

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables serine-type endopeptidase activity IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
involved_in cell cycle IEA
Inferred from Electronic Annotation
more info
 
involved_in proteolysis IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
located_in extracellular region IEA
Inferred from Electronic Annotation
more info
 
located_in integral component of plasma membrane IEA
Inferred from Electronic Annotation
more info
 

General protein information

Preferred Names
transmembrane protease serine 11A
Names
airway trypsin-like protease 1
epidermal type-II transmembrane serine protease
esophageal cancer-susceptibility gene 1 protein
transmembrane protease, serine 11A

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_001114387.2NP_001107859.1  transmembrane protease serine 11A isoform 2

    See identical proteins and their annotated locations for NP_001107859.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) uses an alternate in-frame splice site in the 5' coding region, compared to variant 1, resulting in a shorter protein (isoform 2), compared to isoform 1.
    Source sequence(s)
    AC096653, AC096727, AK292950, AY498712
    Consensus CDS
    CCDS47065.1
    UniProtKB/Swiss-Prot
    Q6ZMR5
    UniProtKB/TrEMBL
    A8KA85
    Related
    ENSP00000426911.2, ENST00000508048.6
    Conserved Domains (3) summary
    smart00020
    Location:186412
    Tryp_SPc; Trypsin-like serine protease
    cd00190
    Location:187415
    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:49144
    SEA; SEA domain
  2. NM_182606.4NP_872412.3  transmembrane protease serine 11A isoform 1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
    Source sequence(s)
    AC096653, AC096727, AK131518, AK292950, AY498712
    Consensus CDS
    CCDS3519.1
    UniProtKB/Swiss-Prot
    Q6ZMR5
    UniProtKB/TrEMBL
    A0A0A0MR82, A8KA85
    Related
    ENSP00000334611.7, ENST00000334830.11
    Conserved Domains (3) summary
    smart00020
    Location:189415
    Tryp_SPc; Trypsin-like serine protease
    cd00190
    Location:190418
    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:49147
    SEA; SEA domain

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20211119

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000004.12 Reference GRCh38.p13 Primary Assembly

    Range
    67909395..67963493 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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