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TMPRSS4 transmembrane serine protease 4 [ Homo sapiens (human) ]

Gene ID: 56649, updated on 24-Dec-2019

Summary

Official Symbol
TMPRSS4provided by HGNC
Official Full Name
transmembrane serine protease 4provided by HGNC
Primary source
HGNC:HGNC:11878
See related
Ensembl:ENSG00000137648 MIM:606565
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
CAPH2; MT-SP2; TMPRSS3
Summary
This gene encodes a member of the serine protease family. Serine proteases are known to be involved in a variety of biological processes, whose malfunction often leads to human diseases and disorders. This gene was identified as a gene overexpressed in pancreatic carcinoma. The encoded protein is membrane bound with a N-terminal anchor sequence and a glycosylated extracellular region containing the serine protease domain. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
Expression
Biased expression in colon (RPKM 31.0), urinary bladder (RPKM 28.2) and 8 other tissues See more
Orthologs

Genomic context

See TMPRSS4 in Genome Data Viewer
Location:
11q23.3
Exon count:
16
Annotation release Status Assembly Chr Location
109.20191205 current GRCh38.p13 (GCF_000001405.39) 11 NC_000011.10 (118077012..118125505)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (117947727..117996323)

Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene interleukin 10 receptor subunit alpha Neighboring gene small integral membrane protein 35 Neighboring gene RNA, 7SL, cytoplasmic 828, pseudogene Neighboring gene uncharacterized LOC105369517 Neighboring gene sodium voltage-gated channel beta subunit 4 Neighboring gene sodium voltage-gated channel beta subunit 2

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

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
scavenger receptor activity IEA
Inferred from Electronic Annotation
more info
 
serine-type endopeptidase activity NAS
Non-traceable Author Statement
more info
PubMed 
Process Evidence Code Pubs
endocytosis IEA
Inferred from Electronic Annotation
more info
 
negative regulation of growth rate IDA
Inferred from Direct Assay
more info
PubMed 
proteolysis NAS
Non-traceable Author Statement
more info
PubMed 
regulation of gene expression IDA
Inferred from Direct Assay
more info
PubMed 
response to wounding IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
integral component of membrane NAS
Non-traceable Author Statement
more info
PubMed 
secretory granule IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

Preferred Names
transmembrane protease serine 4
Names
channel-activating protease 2
membrane-type serine protease 2
transmembrane protease, serine 4
transmembrane serine protease 3
type II membrane serine protease

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.

Genomic

  1. NG_011858.2 RefSeqGene

    Range
    5001..47832
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001083947.1NP_001077416.1  transmembrane protease serine 4 isoform 3

    See identical proteins and their annotated locations for NP_001077416.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) uses an alternate in-frame splice site in the central coding region, compared to variant 1, resulting in a shorter protein (isoform 3). The splice acceptor site used for the first intron of this variant is polymorphic in the human population (rs2276122), and it is not known if this variant can be expressed from individuals with the 'A' allele.
    Source sequence(s)
    AF179224, AK172766, AP002800, AY358530, BP220493, BU685753
    Consensus CDS
    CCDS44743.1
    UniProtKB/Swiss-Prot
    Q9NRS4
    Related
    ENSP00000430547.1, ENST00000522824.5
    Conserved Domains (4) summary
    smart00020
    Location:199424
    Tryp_SPc; Trypsin-like serine protease
    cd00112
    Location:5892
    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 ...
    cd00190
    Location:200427
    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 ...
    cl02509
    Location:108192
    SRCR_2; Scavenger receptor cysteine-rich domain
  2. NM_001173551.1NP_001167022.1  transmembrane protease serine 4 isoform 4

    See identical proteins and their annotated locations for NP_001167022.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (4) uses an alternate in-frame splice site in the 5' coding region, compared to variant 1. The resulting isoform (4) lacks an internal 3-aa segment, compared to isoform 1.
    Source sequence(s)
    AK304113, AK304215, AP002800, BP220493, BU685753
    Consensus CDS
    CCDS53716.1
    UniProtKB/TrEMBL
    B7Z8X1, B7Z900
    Related
    ENSP00000435184.1, ENST00000534111.5
    Conserved Domains (4) summary
    smart00020
    Location:202427
    Tryp_SPc; Trypsin-like serine protease
    cd00112
    Location:5690
    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 ...
    cd00190
    Location:203430
    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 ...
    cl02509
    Location:106195
    SRCR_2; Scavenger receptor cysteine-rich domain
  3. NM_001173552.1NP_001167023.1  transmembrane protease serine 4 isoform 5

    See identical proteins and their annotated locations for NP_001167023.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (5) uses an alternate in-frame splice site and lacks an alternate in-frame exon in the 5' coding region, compared to variant 1. The resulting isoform (5) lacks two internal segments, compared to isoform 1.
    Source sequence(s)
    AK172766, AK303173, AP002800, BP220493, BU685753
    Consensus CDS
    CCDS53717.1
    UniProtKB/Swiss-Prot
    Q9NRS4
    Related
    ENSP00000429209.1, ENST00000523251.5
    Conserved Domains (4) summary
    smart00020
    Location:164389
    Tryp_SPc; Trypsin-like serine protease
    cd00112
    Location:1852
    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 ...
    cd00190
    Location:165392
    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 ...
    cl02509
    Location:68157
    SRCR_2; Scavenger receptor cysteine-rich domain
  4. NM_001290094.1NP_001277023.1  transmembrane protease serine 4 isoform 6

    See identical proteins and their annotated locations for NP_001277023.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (6) uses an alternate splice junction at the end of a 5' exon compared to variant 1. The resulting isoform (6) is shorter at the N-terminus compared to isoform 1.
    Source sequence(s)
    AK304215, AP002800, BP220493, BU685753
    UniProtKB/TrEMBL
    B7Z900
    Conserved Domains (4) summary
    smart00020
    Location:179404
    Tryp_SPc; Trypsin-like serine protease
    cd00112
    Location:3367
    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 ...
    cd00190
    Location:180407
    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 ...
    cl02509
    Location:83172
    SRCR_2; Scavenger receptor cysteine-rich domain
  5. NM_001290096.1NP_001277025.1  transmembrane protease serine 4 isoform 7

    Status: REVIEWED

    Description
    Transcript Variant: This variant (7) uses alternate splice junctions at the ends of three different exons compared to variant 1. The resulting isoform (7) is shorter at the N-terminus and lacks a short internal segment compared to isoform 1.
    Source sequence(s)
    AK296855, AP002800, BP220493, BU685753
    Consensus CDS
    CCDS76482.1
    UniProtKB/TrEMBL
    B7Z458
    Related
    ENSP00000428814.1, ENST00000522307.5
    Conserved Domains (2) summary
    smart00020
    Location:57282
    Tryp_SPc; Trypsin-like serine protease
    cd00190
    Location:58285
    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 ...
  6. NM_019894.4NP_063947.2  transmembrane protease serine 4 isoform 1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1). The splice acceptor site used for the first intron of this variant is polymorphic in the human population (rs2276122), and it is not known if this variant can be expressed from individuals with the 'A' allele.
    Source sequence(s)
    AP000665, AP002800
    Consensus CDS
    CCDS31684.1
    Related
    ENSP00000416037.3, ENST00000437212.8
    Conserved Domains (3) summary
    smart00020
    Location:204429
    Tryp_SPc; Trypsin-like serine protease
    cd00112
    Location:5892
    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:108197
    SRCR_2; Scavenger receptor cysteine-rich domain

RNA

  1. NR_110734.1 RNA Sequence

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) uses an alternate splice junction at the end of a 5' exon and lacks an alternate 3' exon compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
    Source sequence(s)
    AK290361, AP002800, BP220493, BU685753

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20191205

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000011.10 Reference GRCh38.p13 Primary Assembly

    Range
    118077012..118125505
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011542904.2XP_011541206.1  transmembrane protease serine 4 isoform X7

    Conserved Domains (2) summary
    cd00112
    Location:5892
    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 ...
    cl02509
    Location:108197
    SRCR_2; Scavenger receptor cysteine-rich domain
  2. XM_011542901.2XP_011541203.1  transmembrane protease serine 4 isoform X3

    Conserved Domains (4) summary
    smart00020
    Location:199424
    Tryp_SPc; Trypsin-like serine protease
    cd00112
    Location:5892
    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 ...
    cd00190
    Location:200427
    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 ...
    cl02509
    Location:108192
    SRCR_2; Scavenger receptor cysteine-rich domain
  3. XM_011542902.2XP_011541204.1  transmembrane protease serine 4 isoform X4

    Conserved Domains (4) summary
    smart00020
    Location:166391
    Tryp_SPc; Trypsin-like serine protease
    cd00112
    Location:2054
    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 ...
    cd00190
    Location:167394
    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 ...
    cl02509
    Location:70159
    SRCR_2; Scavenger receptor cysteine-rich domain
  4. XM_005271615.3XP_005271672.1  transmembrane protease serine 4 isoform X5

    Conserved Domains (4) summary
    smart00020
    Location:164389
    Tryp_SPc; Trypsin-like serine protease
    cd00112
    Location:1852
    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 ...
    cd00190
    Location:165392
    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 ...
    cl02509
    Location:68157
    SRCR_2; Scavenger receptor cysteine-rich domain
  5. XM_011542903.3XP_011541205.1  transmembrane protease serine 4 isoform X6

    Conserved Domains (3) summary
    cd00112
    Location:5892
    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 ...
    cl02509
    Location:108197
    SRCR_2; Scavenger receptor cysteine-rich domain
    cl21584
    Location:205304
    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 ...
  6. XM_005271613.4XP_005271670.1  transmembrane protease serine 4 isoform X1

    Conserved Domains (4) summary
    smart00020
    Location:204429
    Tryp_SPc; Trypsin-like serine protease
    cd00112
    Location:5892
    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 ...
    cd00190
    Location:205432
    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 ...
    cl02509
    Location:108197
    SRCR_2; Scavenger receptor cysteine-rich domain
  7. XM_005271614.3XP_005271671.1  transmembrane protease serine 4 isoform X2

    See identical proteins and their annotated locations for XP_005271671.1

    Conserved Domains (4) summary
    smart00020
    Location:202427
    Tryp_SPc; Trypsin-like serine protease
    cd00112
    Location:5690
    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 ...
    cd00190
    Location:203430
    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 ...
    cl02509
    Location:106195
    SRCR_2; Scavenger receptor cysteine-rich domain

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

  1. NM_183247.1: Suppressed sequence

    Description
    NM_183247.1: This RefSeq was permanently suppressed because it is a nonsense-mediated mRNA decay (NMD) candidate.
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