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

Gene ID: 84000, updated on 5-Mar-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
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Genomic context

Location:
11q23.3
Exon count:
14
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 11 NC_000011.10 (117900641..117929402, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 11 NC_060935.1 (117917034..117945793, complement)
105.20220307 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)

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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.

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_2023_10

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.