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TMPRSS11F transmembrane serine protease 11F [ Homo sapiens (human) ]

Gene ID: 389208, updated on 17-Sep-2024

Summary

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Official Symbol
TMPRSS11Fprovided by HGNC
Official Full Name
transmembrane serine protease 11Fprovided by HGNC
Primary source
HGNC:HGNC:29994
See related
Ensembl:ENSG00000198092 AllianceGenome:HGNC:29994
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
HATL4
Summary
Predicted to enable serine-type endopeptidase activity. Predicted to be involved in proteolysis. Predicted to act upstream of or within regulation of water loss via skin. Located in cell surface. [provided by Alliance of Genome Resources, Apr 2022]
Expression
Biased expression in esophagus (RPKM 7.7) and skin (RPKM 4.0) See more
Orthologs
all
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Genomic context

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Location:
4q13.2
Exon count:
12
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 4 NC_000004.12 (68053198..68129869, complement)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 4 NC_060928.1 (71496368..71625653, complement)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 4 NC_000004.11 (68918916..68995587, complement)

Chromosome 4 - NC_000004.12Genomic Context describing neighboring genes Neighboring gene POLR2M pseudogene 1 Neighboring gene MT-ND2 pseudogene 41 Neighboring gene uncharacterized LOC550113 Neighboring gene synaptotagmin 14 pseudogene 1 Neighboring gene solute carrier family 47 member 2 pseudogene Neighboring gene NANOG hESC enhancer GRCh37_chr4:68979095-68979596 Neighboring gene TMPRSS11B N-terminal like (pseudogene) Neighboring gene ferritin light chain pseudogene 10 Neighboring gene transmembrane serine protease 11B

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: HPA RNA-seq normal tissues 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

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Related articles in PubMed

  1. Ectopic expression of human airway trypsin-like protease 4 in acute myeloid leukemia promotes cancer cell invasion and tumor growth. Yan R, et al. Cancer Med, 2019 May. PMID 30843660, Free PMC Article
  2. The Transmembrane Serine Protease HAT-like 4 Is Important for Epidermal Barrier Function to Prevent Body Fluid Loss. Zhang Z, et al. Sci Rep, 2017 Mar 24. PMID 28338078, Free PMC Article
  3. Histone Interaction Landscapes Visualized by Crosslinking Mass Spectrometry in Intact Cell Nuclei. Fasci D, et al. Mol Cell Proteomics, 2018 Oct. PMID 30021884, Free PMC Article
  4. Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes. Kimura K, et al. Genome Res, 2006 Jan. PMID 16344560, Free PMC Article

GeneRIFs: Gene References Into Functions

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

  • FLJ16046

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 establishment of skin barrier IEA
Inferred from Electronic Annotation
more info
  
involved_in proteolysis IEA
Inferred from Electronic Annotation
more info
  
Component Evidence Code Pubs
located_in cell surface IDA
Inferred from Direct Assay
more info
 PubMed 
located_in extracellular region IEA
Inferred from Electronic Annotation
more info
  
located_in plasma membrane IEA
Inferred from Electronic Annotation
more info
  

General protein information

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Preferred Names
transmembrane protease serine 11F
Names
airway trypsin-like protease 4
transmembrane protease, serine 11F

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_207407.2 → NP_997290.2  transmembrane protease serine 11F

    See identical proteins and their annotated locations for NP_997290.2

    Status: VALIDATED

    Source sequence(s)
    AC096727, AK122625, DA441628
    Consensus CDS
    CCDS3520.1
    UniProtKB/Swiss-Prot
    A8MXX2, Q6ZWK6
    Related
    ENSP00000348639.2, ENST00000356291.3
    Conserved Domains (3) summary
    smart00020
    Location:205 → 432
    Tryp_SPc; Trypsin-like serine protease
    cd00190
    Location:206 → 435
    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:59 → 154
    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
    68053198..68129869 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_047415669.1 → XP_047271625.1  transmembrane protease serine 11F isoform X2

  2. XM_047415670.1 → XP_047271626.1  transmembrane protease serine 11F isoform X2

  3. XM_011531935.2 → XP_011530237.1  transmembrane protease serine 11F isoform X1

    Conserved Domains (2) summary
    pfam01390
    Location:59 → 154
    SEA; SEA domain
    cl21584
    Location:206 → 252
    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 ...

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060928.1 Alternate T2T-CHM13v2.0

    Range
    71496368..71625653 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054349973.1 → XP_054205948.1  transmembrane protease serine 11F isoform X3

    UniProtKB/Swiss-Prot
    A8MXX2, Q6ZWK6

  2. XM_054349974.1 → XP_054205949.1  transmembrane protease serine 11F isoform X2

  3. XM_054349975.1 → XP_054205950.1  transmembrane protease serine 11F isoform X2

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q6ZWK6.2 GenPept UniProtKB/Swiss-Prot:Q6ZWK6

Gene LinkOut

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