U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

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

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

Summary

Go to the top of the page Help
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
NEW
Try the new Gene table
Try the new Transcript table

Genomic context

Go to the top of the page Help
See TMPRSS5 in Genome Data Viewer
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

Go to the top of the page Help

Go to nucleotide: Graphics FASTA GenBank

Expression

Go to the top of the page Help
  • 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

Go to the top of the pageHelp

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

Go to the top of the page Help

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

Go to the top of the page Help

See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Interactions

Go to the top of the page Help
Products Interactant Other Gene Complex Source Pubs Description

General gene information

Go to the top of the page Help

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

Go to the top of the page Help
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)

Go to the top of the page Help

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.

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.

Chemical Information
Molecular Biology Databases
Research Materials
Tools
Miscellaneous