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    TMPRSS9 transmembrane serine protease 9 [ Homo sapiens (human) ]

    Gene ID: 360200, updated on 9-Dec-2024

    Summary

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    Official Symbol
    TMPRSS9provided by HGNC
    Official Full Name
    transmembrane serine protease 9provided by HGNC
    Primary source
    HGNC:HGNC:30079
    See related
    Ensembl:ENSG00000178297 MIM:610477; AllianceGenome:HGNC:30079
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Summary
    The protein encoded by this gene is a membrane-bound type II serine polyprotease that is cleaved to release three different proteases. Two of the proteases are active and can be inhibited by serine protease inhibitors, and one is thought to be catalytically inactive. This gene enhances the invasive capability of pancreatic cancer cells and may be involved in cancer progression. [provided by RefSeq, Jul 2016]
    Expression
    Broad expression in spleen (RPKM 1.4), testis (RPKM 1.2) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See TMPRSS9 in Genome Data Viewer
    Location:
    19p13.3
    Exon count:
    22
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 19 NC_000019.10 (2360265..2426261)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 19 NC_060943.1 (2333932..2402052)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (2360263..2426259)

    Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13678 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13679 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9786 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13680 Neighboring gene H3K27ac hESC enhancer GRCh37_chr19:2328300-2328954 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13683 Neighboring gene LSM7 homolog, U6 small nuclear RNA and mRNA degradation associated Neighboring gene signal peptide peptidase like 2B Neighboring gene ReSE screen-validated silencer GRCh37_chr19:2358582-2358793 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:2376438-2376950 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13684 Neighboring gene uncharacterized LOC124904612 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:2426331-2427074 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:2427075-2427820 Neighboring gene origin of replication adjacent to lamin B2 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13685 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:2433582-2434270 Neighboring gene translocase of inner mitochondrial membrane 13 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:2441143-2441644 Neighboring gene lamin B2 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:2441645-2442144 Neighboring gene microRNA 7108 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:2452980-2453594 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:2453595-2454209 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:2454266-2454976 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:2454977-2455685 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9789 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9790 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9791 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9792 Neighboring gene long intergenic non-protein coding RNA 1775

    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
    • 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. Polyserase-1/TMPRSS9 induces pro-tumor effects in pancreatic cancer cells by activation of pro-uPA. Fontanil T, et al. Oncol Rep, 2014 Jun. PMID 24756697
    2. TMPRSS9 and GRIN2B are associated with neuroticism: a genome-wide association study in a European sample. Aragam N, et al. J Mol Neurosci, 2013 Jun. PMID 23229837
    3. Combination of whole exome sequencing and animal modeling identifies TMPRSS9 as a candidate gene for autism spectrum disorder. Chen CA, et al. Hum Mol Genet, 2020 Feb 1. PMID 31943016, Free PMC Article
    4. Serase-1B, a new splice variant of polyserase-1/TMPRSS9, activates urokinase-type plasminogen activator and the proteolytic activation is negatively regulated by glycosaminoglycans. Okumura Y, et al. Biochem J, 2006 Dec 15. PMID 16872279, Free PMC Article
    5. Polyserase-I, a human polyprotease with the ability to generate independent serine protease domains from a single translation product. Cal S, et al. Proc Natl Acad Sci U S A, 2003 Aug 5. PMID 12886014, Free PMC Article

    See all (8) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Combination of whole exome sequencing and animal modeling identifies TMPRSS9 as a candidate gene for autism spectrum disorder.
      Title: Combination of whole exome sequencing and animal modeling identifies TMPRSS9 as a candidate gene for autism spectrum disorder.
    2. These effects were mediated by the efficient conversion of pro-uPA to active uPA and high phosphorylation levels of ERK detected in the PANC-1 cells expressing exogenous polyserase-1.
      Title: Polyserase-1/TMPRSS9 induces pro-tumor effects in pancreatic cancer cells by activation of pro-uPA.
    3. SNP rs4806846 in TMPRSS9 gene is associated with neuroticism in a European sample.
      Title: TMPRSS9 and GRIN2B are associated with neuroticism: a genome-wide association study in a European sample.
    4. Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
      Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
    5. Polyserase-I is a human polyprotease with the ability to generate independent serine protease domains from a single translation product
      Title: Polyserase-I, a human polyprotease with the ability to generate independent serine protease domains from a single translation product.
    6. The isolation and characterization of serase-1B, a splice variant of polyserase-1, is reported (accession AB109390.1).
      Title: Serase-1B, a new splice variant of polyserase-1/TMPRSS9, activates urokinase-type plasminogen activator and the proteolytic activation is negatively regulated by glycosaminoglycans.
    Submit: New GeneRIF Correction

    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

    EBI GWAS Catalog

    Description
    TMPRSS9 and GRIN2B are associated with neuroticism: a genome-wide association study in a European sample.
    EBI GWAS Catalog

    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

    • FLJ16193

    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 proteolysis IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    located_in plasma membrane IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    transmembrane protease serine 9
    Names
    polyserase-1
    polyserase-I
    polyserine protease 1
    transmembrane protease, serine 9

    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_001385642.1 → NP_001372571.1  transmembrane protease serine 9 isoform 2

      Status: REVIEWED

      Source sequence(s)
      AC011522, AC011542
      Conserved Domains (2) summary
      smart00020
      Location:4 → 233
      Tryp_SPc; Trypsin-like serine protease
      cd00190
      Location:629 → 855
      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 ...

    2. NM_001395513.1 → NP_001382442.1  transmembrane protease serine 9 isoform 3

      Status: REVIEWED

      Source sequence(s)
      AC004410, AC011522, AC011542
      Consensus CDS
      CCDS92484.1
      UniProtKB/TrEMBL
      A0A3B3IU58
      Related
      ENSP00000512457.1, ENST00000696167.1
      Conserved Domains (4) summary
      smart00020
      Location:236 → 465
      Tryp_SPc; Trypsin-like serine protease
      cd00112
      Location:188 → 223
      LDLa; Low Density Lipoprotein Receptor Class A domain, a cysteine-rich repeat that plays a central role in mammalian cholesterol metabolism; the receptor protein binds LDL and transports it into cells by endocytosis; 7 successive cysteine-rich repeats of about ...
      cd00190
      Location:861 → 1087
      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:66 → 127
      SEA; SEA domain

    3. NM_182973.3 → NP_892018.1  transmembrane protease serine 9 isoform 1

      See identical proteins and their annotated locations for NP_892018.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longer isoform (1).
      Source sequence(s)
      AC011522, AC011542
      Consensus CDS
      CCDS12088.1
      UniProtKB/Swiss-Prot
      Q6ZND6, Q7Z410, Q7Z411
      Related
      ENSP00000497651.1, ENST00000649857.1
      Conserved Domains (3) summary
      smart00020
      Location:202 → 431
      Tryp_SPc; Trypsin-like serine protease
      cd00112
      Location:154 → 189
      LDLa; Low Density Lipoprotein Receptor Class A domain, a cysteine-rich repeat that plays a central role in mammalian cholesterol metabolism; the receptor protein binds LDL and transports it into cells by endocytosis; 7 successive cysteine-rich repeats of about ...
      cd00190
      Location:203 → 431
      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 ...

    RNA

    1. NR_169739.1 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AC011542

    2. NR_169740.1 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AC011542

    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_000019.10 Reference GRCh38.p14 Primary Assembly

      Range
      2360265..2426261
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011527978.3 → XP_011526280.1  transmembrane protease serine 9 isoform X1

      UniProtKB/TrEMBL
      A0A3B3IU58
      Conserved Domains (4) summary
      smart00020
      Location:236 → 465
      Tryp_SPc; Trypsin-like serine protease
      cd00112
      Location:188 → 223
      LDLa; Low Density Lipoprotein Receptor Class A domain, a cysteine-rich repeat that plays a central role in mammalian cholesterol metabolism; the receptor protein binds LDL and transports it into cells by endocytosis; 7 successive cysteine-rich repeats of about ...
      cd00190
      Location:861 → 1087
      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:66 → 127
      SEA; SEA domain

    2. XM_047438777.1 → XP_047294733.1  transmembrane protease serine 9 isoform X3

    3. XM_047438776.1 → XP_047294732.1  transmembrane protease serine 9 isoform X2

    4. XM_011527980.1 → XP_011526282.1  transmembrane protease serine 9 isoform X4

      Conserved Domains (3) summary
      smart00020
      Location:457 → 684
      Tryp_SPc; Trypsin-like serine protease
      cd00190
      Location:458 → 684
      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 ...
      cl21584
      Location:1 → 62
      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_060943.1 Alternate T2T-CHM13v2.0

      Range
      2333932..2402052
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054320889.1 → XP_054176864.1  transmembrane protease serine 9 isoform X1

      UniProtKB/TrEMBL
      A0A3B3IU58

    2. XM_054320892.1 → XP_054176867.1  transmembrane protease serine 9 isoform X3

    3. XM_054320890.1 → XP_054176865.1  transmembrane protease serine 9 isoform X2

    4. XM_054320891.1 → XP_054176866.1  transmembrane protease serine 9 isoform X3

    5. XM_054320893.1 → XP_054176868.1  transmembrane protease serine 9 isoform X4

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q7Z410.2 GenPept UniProtKB/Swiss-Prot:Q7Z410

    Gene LinkOut

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

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