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

Gene ID: 80975, updated on 13-Feb-2019

Summary

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
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

Genomic context

See TMPRSS5 in Genome Data Viewer
Location:
11q23.2
Exon count:
13
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 11 NC_000011.10 (113687546..113709811, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (113558268..113577151, complement)

Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105369501 Neighboring gene uncharacterized LOC107984390 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

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

Phenotypes

NHGRI GWAS Catalog

Description
Genetic analysis of the pathogenic molecular sub-phenotype interferon-alpha identifies multiple novel loci involved in systemic lupus erythematosus.
NHGRI GWA Catalog

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • MGC141886, MGC148044

Gene Ontology Provided by GOA

Function Evidence Code Pubs
peptidase activity IMP
Inferred from Mutant Phenotype
more info
PubMed 
scavenger receptor activity IEA
Inferred from Electronic Annotation
more info
 
serine-type endopeptidase activity IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
proteolysis IMP
Inferred from Mutant Phenotype
more info
PubMed 
receptor-mediated endocytosis IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
integral component of membrane IEA
Inferred from Electronic Annotation
more info
 
neuronal cell body IEA
Inferred from Electronic Annotation
more info
 
plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
plasma membrane IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

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_016873855.1
XP_016873856.1

NCBI Reference Sequences (RefSeq)

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_001288749.1NP_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)
    AB028140, AI056603, AK294313, AL538140, BC028065
    Consensus CDS
    CCDS73390.1
    UniProtKB/Swiss-Prot
    Q9H3S3
    UniProtKB/TrEMBL
    B7Z247, F5H0U3
    Related
    ENSP00000445930.1, ENST00000544476.1
    Conserved Domains (3) summary
    smart00020
    Location:150335
    Tryp_SPc; Trypsin-like serine protease
    cd00190
    Location:150338
    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:72149
    SRCR_2; Scavenger receptor cysteine-rich domain
  2. NM_001288750.1NP_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)
    AB028140, AI056603, AL538140, BC028065, BC121802
    Consensus CDS
    CCDS73391.1
    UniProtKB/Swiss-Prot
    Q9H3S3
    UniProtKB/TrEMBL
    F5H2M3, Q0P514
    Related
    ENSP00000445528.1, ENST00000538955.5
    Conserved Domains (3) summary
    smart00020
    Location:173404
    Tryp_SPc; Trypsin-like serine protease
    cd00190
    Location:174407
    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:72169
    SRCR_2; Scavenger receptor cysteine-rich domain
  3. NM_001288751.1NP_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)
    AB028140, AI056603, AL538140, BC028065, BC121803
    Consensus CDS
    CCDS73392.1
    UniProtKB/Swiss-Prot
    Q9H3S3
    UniProtKB/TrEMBL
    F5GX83, Q0P513
    Related
    ENSP00000441104.1, ENST00000545579.6
    Conserved Domains (3) summary
    smart00020
    Location:208439
    Tryp_SPc; Trypsin-like serine protease
    cd00190
    Location:209442
    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:107204
    SRCR_2; Scavenger receptor cysteine-rich domain
  4. NM_001288752.1NP_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)
    AB028140, AI056603, AL538140, BC028065
    Consensus CDS
    CCDS73393.1
    UniProtKB/Swiss-Prot
    Q9H3S3
    UniProtKB/TrEMBL
    F5GYA3
    Related
    ENSP00000440783.1, ENST00000544634.5
    Conserved Domains (3) summary
    smart00020
    Location:194379
    Tryp_SPc; Trypsin-like serine protease
    cd00190
    Location:194382
    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:116193
    SRCR_2; Scavenger receptor cysteine-rich domain
  5. NM_030770.4NP_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
    Related
    ENSP00000299882.5, ENST00000299882.10
    Conserved Domains (3) summary
    smart00020
    Location:217448
    Tryp_SPc; Trypsin-like serine protease
    cd00190
    Location:218451
    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:116213
    SRCR_2; Scavenger receptor cysteine-rich domain

RNA

  1. NR_110046.1 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)
    AB028140, AI056603, BC028065
    Related
    ENST00000540540.5
  2. NR_110047.1 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)
    AB028140, AI056603, BC028065, BC047222, BC121802
    Related
    ENST00000536856.5

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000011.10 Reference GRCh38.p12 Primary Assembly

    Range
    113687546..113709811 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017018366.1XP_016873855.1  transmembrane protease serine 5 isoform X1

  2. XM_017018367.1XP_016873856.1  transmembrane protease serine 5 isoform X1

RNA

  1. XR_001747992.1 RNA Sequence

  2. XR_001747990.1 RNA Sequence

  3. XR_001747991.1 RNA Sequence

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