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

Gene ID: 344805, updated on 2-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 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)

Genotypes

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

Gene LinkOut

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