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    TMPRSS5 transmembrane serine protease 5 [ Homo sapiens (human) ]

    Gene ID: 80975, updated on 3-Apr-2024

    Summary

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    Official Symbol
    TMPRSS5provided by HGNC
    Official Full Name
    transmembrane serine protease 5provided by HGNC
    Primary source
    HGNC:HGNC:14908
    See related
    Ensembl:ENSG00000166682 MIM:606751; AllianceGenome:HGNC:14908
    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
    SPINESIN
    Summary
    This gene encodes a protein that belongs to the serine protease family. Serine proteases are known to be involved in many physiological and pathological processes. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2014]
    Expression
    Biased expression in brain (RPKM 1.2), salivary gland (RPKM 0.5) and 9 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    Location:
    11q23.2
    Exon count:
    13
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 11 NC_000011.10 (113687550..113706308, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 11 NC_060935.1 (113697893..113722789, complement)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (113558272..113577030, complement)

    Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105369501 Neighboring gene Sharpr-MPRA regulatory region 11387 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr11:113411088-113411599 Neighboring gene H3K27ac hESC enhancer GRCh37_chr11:113424437-113424938 Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr11:113448606-113449158 Neighboring gene Sharpr-MPRA regulatory region 5622 Neighboring gene uncharacterized LOC107984390 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5540 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3910 Neighboring gene CRISPRi-validated cis-regulatory element chr11.5211 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr11:113499391-113500389 Neighboring gene uncharacterized LOC124902758 Neighboring gene Sharpr-MPRA regulatory region 4296 Neighboring gene Sharpr-MPRA regulatory region 4594 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:113560062-113560563 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr11:113560791-113561990 Neighboring gene mitochondrial translational release factor 1 like pseudogene 1 Neighboring gene zw10 kinetochore protein Neighboring gene ribosomal protein S29 pseudogene 19

    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. Spinesin/TMPRSS5, a novel transmembrane serine protease, cloned from human spinal cord. Yamaguchi N, et al. J Biol Chem, 2002 Mar 1. PMID 11741986
    2. ADAM-9 is an insulin-like growth factor binding protein-5 protease produced and secreted by human osteoblasts. Mohan S, et al. Biochemistry, 2002 Dec 24. PMID 12484779
    3. An integrated genetic and functional analysis of the role of type II transmembrane serine proteases (TMPRSSs) in hearing loss. Guipponi M, et al. Hum Mutat, 2008 Jan. PMID 17918732
    4. Genetic analysis of the pathogenic molecular sub-phenotype interferon-alpha identifies multiple novel loci involved in systemic lupus erythematosus. Kariuki SN, et al. Genes Immun, 2015 Jan-Feb. PMID 25338677, Free PMC Article
    5. Gsk3β and Tomm20 are substrates of the SCFFbxo7/PARK15 ubiquitin ligase associated with Parkinson's disease. Teixeira FR, et al. Biochem J, 2016 Oct 15. PMID 27503909, Free PMC Article

    See all (11) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. The purified IGF-binding protein-5 (IGFBP-5) protease fraction secreted by cultured human osteoblasts has been characterized as ADAM9.
      Title: ADAM-9 is an insulin-like growth factor binding protein-5 protease produced and secreted by human osteoblasts.
    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
    Genetic analysis of the pathogenic molecular sub-phenotype interferon-alpha identifies multiple novel loci involved in systemic lupus erythematosus.
    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

    Clone Names

    • MGC141886, MGC148044

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables peptidase activity IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    enables serine-type endopeptidase activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    Process Evidence Code Pubs
    involved_in proteolysis IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in neuronal cell body IEA
    Inferred from Electronic Annotation
    more info
    		  
    is_active_in plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in plasma membrane IDA
    Inferred from Direct Assay
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    transmembrane protease serine 5
    Names
    transmembrane protease, serine 5
    NP_001275678.1
    NP_001275679.1
    NP_001275680.1
    NP_001275681.1
    NP_110397.2
    XP_054226025.1
    XP_054226026.1

    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_001288749.2 → NP_001275678.1  transmembrane protease serine 5 isoform 2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) differs in its 5' UTR, initiates translation at a downstream start codon, and lacks two consecutive in-frame exons in the central coding region, compared to variant 1. The encoded isoform (2) is shorter, compared to isoform 1.
      Source sequence(s)
      AK294313, AL538140, BC028065
      Consensus CDS
      CCDS73390.1
      UniProtKB/TrEMBL
      B7Z247, F5H0U3
      Related
      ENSP00000445930.1, ENST00000544476.1
      Conserved Domains (3) summary
      smart00020
      Location:150 → 335
      Tryp_SPc; Trypsin-like serine protease
      cd00190
      Location:150 → 338
      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:72 → 149
      SRCR_2; Scavenger receptor cysteine-rich domain

    2. NM_001288750.2 → NP_001275679.1  transmembrane protease serine 5 isoform 3

      See identical proteins and their annotated locations for NP_001275679.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) differs in its 5' UTR and initiates translation at a downstream start codon, compared to variant 1. The encoded isoform (3) has a shorter N-terminus, compared to isoform 1.
      Source sequence(s)
      AL538140, BC028065, BC121802
      Consensus CDS
      CCDS73391.1
      UniProtKB/TrEMBL
      F5H2M3, Q0P514
      Related
      ENSP00000445528.1, ENST00000538955.5
      Conserved Domains (3) summary
      smart00020
      Location:173 → 404
      Tryp_SPc; Trypsin-like serine protease
      cd00190
      Location:174 → 407
      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:72 → 169
      SRCR_2; Scavenger receptor cysteine-rich domain

    3. NM_001288751.2 → NP_001275680.1  transmembrane protease serine 5 isoform 4

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) differs in its 5' UTR and initiates translation at an alternate start codon, compared to variant 1. The encoded isoform (4) has a shorter and distinct N-terminus, compared to isoform 1.
      Source sequence(s)
      AL538140, BC028065, BC121803
      Consensus CDS
      CCDS73392.1
      UniProtKB/TrEMBL
      F5GX83, Q0P513
      Related
      ENSP00000441104.1, ENST00000545579.6
      Conserved Domains (3) summary
      smart00020
      Location:208 → 439
      Tryp_SPc; Trypsin-like serine protease
      cd00190
      Location:209 → 442
      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:107 → 204
      SRCR_2; Scavenger receptor cysteine-rich domain

    4. NM_001288752.2 → NP_001275681.1  transmembrane protease serine 5 isoform 5

      Status: REVIEWED

      Description
      Transcript Variant: This variant (5) lacks two consecutive in-frame exons in the central coding region, compared to variant 1. The encoded isoform (5) is shorter, compared to isoform 1.
      Source sequence(s)
      AL538140, BC028065
      Consensus CDS
      CCDS73393.1
      UniProtKB/TrEMBL
      B7Z311, F5GYA3
      Related
      ENSP00000440783.1, ENST00000544634.5
      Conserved Domains (3) summary
      smart00020
      Location:194 → 379
      Tryp_SPc; Trypsin-like serine protease
      cd00190
      Location:194 → 382
      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:116 → 193
      SRCR_2; Scavenger receptor cysteine-rich domain

    5. NM_030770.4 → NP_110397.2  transmembrane protease serine 5 isoform 1

      See identical proteins and their annotated locations for NP_110397.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) encodes the longest isoform (1).
      Source sequence(s)
      AL538140, BC028065
      Consensus CDS
      CCDS44735.1
      UniProtKB/Swiss-Prot
      Q9H3S3
      UniProtKB/TrEMBL
      B0YJB1
      Related
      ENSP00000299882.5, ENST00000299882.11
      Conserved Domains (3) summary
      smart00020
      Location:217 → 448
      Tryp_SPc; Trypsin-like serine protease
      cd00190
      Location:218 → 451
      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:116 → 213
      SRCR_2; Scavenger receptor cysteine-rich domain

    RNA

    1. NR_110046.2 RNA Sequence

      Status: REVIEWED

      Description
      Transcript Variant: This variant (6) lacks two internal exons, compared to variant 1. This variant is represented as non-coding because the predicted protein does not meet RefSeq quality criteria.
      Source sequence(s)
      BC028065
      Related
      ENST00000540540.5

    2. NR_110047.2 RNA Sequence

      Status: REVIEWED

      Description
      Transcript Variant: This variant (7) lacks three internal exons, compared to variant 1. This variant is represented as non-coding because the predicted protein does not meet RefSeq quality criteria.
      Source sequence(s)
      BC028065, BC047222, BC121802
      Related
      ENST00000536856.5

    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
      113687550..113706308 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060935.1 Alternate T2T-CHM13v2.0

      Range
      113697893..113722789 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054370051.1 → XP_054226026.1  transmembrane protease serine 5 isoform X2

    2. XM_054370050.1 → XP_054226025.1  transmembrane protease serine 5 isoform X1

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9H3S3.2 GenPept UniProtKB/Swiss-Prot:Q9H3S3

    Gene LinkOut

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

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