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    TMPRSS13 transmembrane serine protease 13 [ Homo sapiens (human) ]

    Gene ID: 84000, updated on 9-Dec-2024

    Summary

    Official Symbol
    TMPRSS13provided by HGNC
    Official Full Name
    transmembrane serine protease 13provided by HGNC
    Primary source
    HGNC:HGNC:29808
    See related
    Ensembl:ENSG00000137747 MIM:610050; AllianceGenome:HGNC:29808
    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
    Also known as
    MSP; MSPL; MSPS; TMPRSS11
    Summary
    This gene encodes a member of the type II transmembrane serine protease family. The encoded protein contains a type II transmembrane domain, a receptor class A domain, a scavenger receptor cysteine-rich domain and a protease domain. Transmembrane serine proteases are regulated by protease inhibitors and known to function in development, homeostasis, infection, and tumorigenesis. This protein facilitates entry of viruses into host cells by proteolytically cleaving and activating viral envelope glycoproteins. [provided by RefSeq, Aug 2021]
    Annotation information
    Note: This gene has been reviewed for its involvement in coronavirus biology, and is involved in SARS-CoV-2 infection.
    Expression
    Biased expression in skin (RPKM 9.7), esophagus (RPKM 3.1) and 4 other tissues See more
    Orthologs
    NEW
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    Genomic context

    See TMPRSS13 in Genome Data Viewer
    Location:
    11q23.3
    Exon count:
    14
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 11 NC_000011.10 (117900641..117929402, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 11 NC_060935.1 (117917034..117945793, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (117771356..117800117, complement)

    Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:117690567-117691301 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:117692983-117693536 Neighboring gene FXYD6-FXYD2 readthrough Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:117695199-117695752 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:117695753-117696305 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr11:117712427-117713626 Neighboring gene FXYD6 antisense RNA 1 Neighboring gene FXYD domain containing ion transport regulator 2 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:117726457-117726957 Neighboring gene FXYD domain containing ion transport regulator 6 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr11:117738498-117739697 Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr11:117740007-117740526 Neighboring gene Sharpr-MPRA regulatory region 1172 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:117778029-117778529 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:117784655-117785647 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3939 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5577 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:117802800-117803339 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:117803340-117803878 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_19102 Neighboring gene ReSE screen-validated silencer GRCh37_chr11:117843533-117843947 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_19132 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5579 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3940 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3941 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5580 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_19171 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:117869597-117870098 Neighboring gene interleukin 10 receptor subunit alpha Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3942 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5581 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:117881450-117881950 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_19207 Neighboring gene small integral membrane protein 35 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5582 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:117935307-117935808 Neighboring gene RNA, 7SL, cytoplasmic 828, pseudogene

    Genomic regions, transcripts, and products

    Expression

    • 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

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables serine-type endopeptidase activity NAS
    Non-traceable Author Statement
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in proteolysis IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    located_in blood microparticle HDA PubMed 
    located_in cytoplasm IEA
    Inferred from Electronic Annotation
    more info
     
    located_in membrane NAS
    Non-traceable Author Statement
    more info
    PubMed 
    located_in plasma membrane IEA
    Inferred from Electronic Annotation
    more info
     

    General protein information

    Preferred Names
    transmembrane protease serine 13
    Names
    membrane-type mosaic serine protease
    transmembrane protease, serine 11
    transmembrane protease, serine 13

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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.

    Genomic

    1. NG_030336.1 RefSeqGene

      Range
      5052..33813
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001077263.3NP_001070731.1  transmembrane protease serine 13 isoform 1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longest protein (isoform 1).
      Source sequence(s)
      AP002962, AW014913, BC114928
      Consensus CDS
      CCDS41721.1
      UniProtKB/Swiss-Prot
      B4DTM9, E9PIJ5, E9PRA0, F8WAJ3, J3KQC6, Q1RMF8, Q86YM4, Q96JY8, Q9BYE1, Q9BYE2
      Related
      ENSP00000434279.1, ENST00000524993.6
      Conserved Domains (4) summary
      smart00020
      Location:325554
      Tryp_SPc; Trypsin-like serine protease
      cd00190
      Location:326557
      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 ...
      pfam12446
      Location:1687
      DUF3682; Protein of unknown function (DUF3682)
      pfam15494
      Location:231320
      SRCR_2; Scavenger receptor cysteine-rich domain
    2. NM_001206789.2NP_001193718.1  transmembrane protease serine 13 isoform 2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) lacks an alternate in-frame exon in the 5' coding region compared to variant 1. The resulting protein (isoform 2) is shorter compared to isoform 1.
      Source sequence(s)
      AP002962
      Consensus CDS
      CCDS55788.1
      UniProtKB/Swiss-Prot
      B4DTM9, E9PIJ5, E9PRA0, F8WAJ3, J3KQC6, Q1RMF8, Q86YM4, Q96JY8, Q9BYE1, Q9BYE2
      Related
      ENSP00000435813.1, ENST00000528626.5
      Conserved Domains (4) summary
      smart00020
      Location:290519
      Tryp_SPc; Trypsin-like serine protease
      cd00190
      Location:291522
      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 ...
      pfam15494
      Location:196285
      SRCR_2; Scavenger receptor cysteine-rich domain
      pfam15772
      Location:887
      UPF0688; UPF0688 family
    3. NM_001206790.2NP_001193719.1  transmembrane protease serine 13 isoform 3

      See identical proteins and their annotated locations for NP_001193719.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) differs in the 3' UTR and coding region compared to variant 1. The resulting protein (isoform 3) has a distinct C-terminus and is shorter than isoform 1.
      Source sequence(s)
      AP002962
      Consensus CDS
      CCDS55789.1
      UniProtKB/Swiss-Prot
      Q9BYE2
      Related
      ENSP00000436502.1, ENST00000526090.1
      Conserved Domains (5) summary
      smart00020
      Location:325441
      Tryp_SPc; Trypsin-like serine protease
      cd00112
      Location:210226
      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 ...
      pfam15494
      Location:231320
      SRCR_2; Scavenger receptor cysteine-rich domain
      pfam15772
      Location:887
      UPF0688; UPF0688 family
      cl21584
      Location:326427
      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 ...
    4. NM_001244995.2NP_001231924.1  transmembrane protease serine 13 isoform 4

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) includes an alternate 3' terminal exon, compared to variant 1. It encodes isoform 4 which is shorter and has a distinct C-terminus, compared to isoform 1.
      Source sequence(s)
      AK027798, AP002962, AY190317, DC381405
      Consensus CDS
      CCDS58185.1
      UniProtKB/Swiss-Prot
      B4DTM9, E9PIJ5, E9PRA0, F8WAJ3, J3KQC6, Q1RMF8, Q86YM4, Q96JY8, Q9BYE1, Q9BYE2
      Related
      ENSP00000387702.2, ENST00000430170.6
      Conserved Domains (4) summary
      smart00020
      Location:325554
      Tryp_SPc; Trypsin-like serine protease
      cd00190
      Location:326557
      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 ...
      pfam15494
      Location:231320
      SRCR_2; Scavenger receptor cysteine-rich domain
      pfam15772
      Location:887
      UPF0688; UPF0688 family

    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_000011.10 Reference GRCh38.p14 Primary Assembly

      Range
      117900641..117929402 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060935.1 Alternate T2T-CHM13v2.0

      Range
      117917034..117945793 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_032046.1: Suppressed sequence

      Description
      NM_032046.1: This RefSeq was temporarily suppressed because currently there are not sufficient data to support this transcript.