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

    Gene ID: 389208, updated on 2-Nov-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 establishment of skin barrier. Located in cell surface. [provided by Alliance of Genome Resources, Nov 2024]
    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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    See TMPRSS11F in Genome Data Viewer
    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)

    Genotypes

    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

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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