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    TMPRSS7 transmembrane serine protease 7 [ Homo sapiens (human) ]

    Gene ID: 344805, updated on 27-Nov-2024

    Summary

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    Official Symbol
    TMPRSS7provided by HGNC
    Official Full Name
    transmembrane serine protease 7provided by HGNC
    Primary source
    HGNC:HGNC:30846
    See related
    Ensembl:ENSG00000176040 AllianceGenome:HGNC:30846
    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
    Summary
    Predicted to enable serine-type peptidase activity. Predicted to be involved in proteolysis. Predicted to be active in plasma membrane. [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Low expression observed in reference dataset See more
    Orthologs
    mouse all
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    Genomic context

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    See TMPRSS7 in Genome Data Viewer
    Location:
    3q13.2
    Exon count:
    22
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 3 NC_000003.12 (112034736..112081269)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 3 NC_060927.1 (114755830..114802379)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (111753583..111800116)

    Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene riboflavin kinase-like Neighboring gene riboflavin kinase pseudogene 2 Neighboring gene H3K27ac hESC enhancer GRCh37_chr3:111804898-111805414 Neighboring gene chromosome 3 open reading frame 52 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr3:111820488-111821687 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20230 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20231 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20232 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20233 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20234 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20235 Neighboring gene microRNA 567 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr3:111845355-111845988 Neighboring gene germinal center associated signaling and motility Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20236

    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. Type II transmembrane serine protease gene variants associate with breast cancer. Luostari K, et al. PLoS One, 2014. PMID 25029565, Free PMC Article
    2. Genome wide association and linkage analyses identified three loci-4q25, 17q23.2, and 10q11.21-associated with variation in leukocyte telomere length: the Long Life Family Study. Lee JH, et al. Front Genet, 2013. PMID 24478790, Free PMC Article
    3. The DNA sequence, annotation and analysis of human chromosome 3. Muzny DM, et al. Nature, 2006 Apr 27. PMID 16641997
    4. Human and mouse proteases: a comparative genomic approach. Puente XS, et al. Nat Rev Genet, 2003 Jul. PMID 12838346
    5. Proteomic analysis of the cullin 4B interactome using proximity-dependent biotinylation in living cells. Zhang H, et al. Proteomics, 2017 Apr. PMID 28225217

    See all (10) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Single nucleotide polymorphism in TMPRSS7(rs2399403) is significantly associated with breast cancer risk.
      Title: Type II transmembrane serine protease gene variants associate with breast cancer.
    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
    Genome wide association and linkage analyses identified three loci-4q25, 17q23.2, and 10q11.21-associated with variation in leukocyte telomere length: the Long Life Family Study.
    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

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables serine-type endopeptidase activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables serine-type peptidase activity ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    Process Evidence Code Pubs
    involved_in proteolysis ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    Component Evidence Code Pubs
    is_active_in plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in plasma membrane ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  

    General protein information

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    Preferred Names
    transmembrane protease serine 7
    Names
    matriptase-3
    transmembrane protease, serine 7
    type II transmembrane serine protease 7

    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_001042575.2 → NP_001036040.2  transmembrane protease serine 7 isoform 1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) encodes a 717aa protein.
      Source sequence(s)
      AC024887, BC117322
      Consensus CDS
      CCDS43129.2
      UniProtKB/Swiss-Prot
      Q7RTY8
      Related
      ENSP00000411645.1, ENST00000419127.5
      Conserved Domains (5) summary
      smart00020
      Location:479 → 709
      Tryp_SPc; Trypsin-like serine protease
      cd00041
      Location:121 → 233
      CUB; CUB domain; extracellular domain; present in proteins mostly known to be involved in development; not found in prokaryotes, plants and yeast.
      cd00112
      Location:358 → 392
      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:480 → 711
      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:1 → 91
      SEA; SEA domain

    2. NM_001366279.2 → NP_001353208.1  transmembrane protease serine 7 isoform 2

      Status: VALIDATED

      Source sequence(s)
      AC024887
      Conserved Domains (4) summary
      smart00020
      Location:468 → 698
      Tryp_SPc; Trypsin-like serine protease
      cd00041
      Location:110 → 222
      CUB; CUB domain; extracellular domain; present in proteins mostly known to be involved in development; not found in prokaryotes, plants and yeast.
      cd00112
      Location:347 → 381
      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 ...
      pfam01390
      Location:7 → 75
      SEA; SEA domain

    3. NM_001395507.1 → NP_001382436.1  transmembrane protease serine 7 isoform 3

      Status: VALIDATED

      Source sequence(s)
      AC024887
      Consensus CDS
      CCDS93340.1
      UniProtKB/Swiss-Prot
      C9J8P7, E9PAS3, Q17RH4, Q7RTY8
      Related
      ENSP00000398236.2, ENST00000452346.7
      Conserved Domains (4) summary
      smart00020
      Location:605 → 835
      Tryp_SPc; Trypsin-like serine protease
      cd00041
      Location:247 → 359
      CUB; CUB domain; extracellular domain; present in proteins mostly known to be involved in development; not found in prokaryotes, plants and yeast.
      cd00112
      Location:484 → 518
      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 ...
      pfam01390
      Location:108 → 212
      SEA; SEA domain

    RNA

    1. NR_026734.1 RNA Sequence

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) has an additional exon in the 5' region, as compared to variant 1. Because of several uORFs encoding >35aa, this variant is unlikely to make a functional protein.
      Source sequence(s)
      AC024887, AK131211
      Related
      ENST00000435737.5

    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_000003.12 Reference GRCh38.p14 Primary Assembly

      Range
      112034736..112081269
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011512754.2 → XP_011511056.1  transmembrane protease serine 7 isoform X1

      See identical proteins and their annotated locations for XP_011511056.1

      Conserved Domains (5) summary
      smart00020
      Location:522 → 752
      Tryp_SPc; Trypsin-like serine protease
      cd00041
      Location:164 → 276
      CUB; CUB domain; extracellular domain; present in proteins mostly known to be involved in development; not found in prokaryotes, plants and yeast.
      cd00112
      Location:401 → 435
      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:523 → 754
      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:25 → 121
      SEA; SEA domain

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060927.1 Alternate T2T-CHM13v2.0

      Range
      114755830..114802379
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054346430.1 → XP_054202405.1  transmembrane protease serine 7 isoform X1

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q7RTY8.3 GenPept UniProtKB/Swiss-Prot:Q7RTY8

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