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MOUSE:TMPS3

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Species (Taxon ID) Mus musculus (Mouse). (10090)
Gene Name(s) Tmprss3
Protein Name(s) Transmembrane protease serine 3
External Links
UniProt Q8K1T0
EMBL AJ429216
AJ300738
AY261383
CCDS CCDS37547.1
CCDS50053.1
RefSeq NP_542765.2
UniGene Mm.214638
ProteinModelPortal Q8K1T0
SMR Q8K1T0
MEROPS S01.079
PhosphoSite Q8K1T0
PRIDE Q8K1T0
Ensembl ENSMUST00000024833
ENSMUST00000114549
GeneID 140765
KEGG mmu:140765
UCSC uc008bup.2
CTD 64699
MGI MGI:2155445
eggNOG COG5640
GeneTree ENSGT00760000118962
HOGENOM HOG000251822
HOVERGEN HBG013304
InParanoid Q8K1T0
KO K09634
OMA VITPLWI
OrthoDB EOG75B84T
TreeFam TF351678
NextBio 369973
PRO PR:Q8K1T0
Proteomes UP000000589
Bgee Q8K1T0
CleanEx MM_TMPRSS3
ExpressionAtlas Q8K1T0
Genevestigator Q8K1T0
GO GO:0005783
GO:0005789
GO:0016021
GO:0043025
GO:0005044
GO:0004252
GO:0017080
GO:0006883
GO:0007605
Gene3D 3.10.250.10
4.10.400.10
InterPro IPR023415
IPR002172
IPR001254
IPR018114
IPR001314
IPR001190
IPR017448
IPR009003
Pfam PF00057
PF00089
PRINTS PR00722
SMART SM00192
SM00202
SM00020
SUPFAM SSF50494
SSF56487
SSF57424
PROSITE PS01209
PS50068
PS50287
PS50240
PS00134
PS00135

Annotations

Qualifier GO ID GO term name Reference ECO ID ECO term name with/from Aspect Extension Notes Status
GO:0090102

cochlea morphogenesis

PMID:21454591[1]

ECO:0000315

P

Table 1, Fig 3.

In the Tmprss3Y260X homozygous mice, at birth, the IHCs and the OHCs showed immature stereociliary bundles all along the cochlea. Massive hair cell loss occurred from day 12 onwards.

Fig 4.

the organ of Corti of Tmprss3Y260X homozygous mice was profoundly altered in the basal and middle cochlear turns at postnatal day 12. In 4.5 month old Tmprss3Y260X homozygous mice, the organ of Corti has completely regressed in the basal cochlear turn where a single layer of undifferentiated epithelial cells remained.

complete

part_of

GO:0043025

neuronal cell body

PMID:17918732[2]

ECO:0000314

direct assay evidence used in manual assertion

C

Seeded From UniProt

complete

involved_in

GO:0007605

sensory perception of sound

PMID:21454591[1]

ECO:0000315

mutant phenotype evidence used in manual assertion

P

Seeded From UniProt

complete

part_of

GO:0005783

endoplasmic reticulum

PMID:21454591[1]

ECO:0000314

direct assay evidence used in manual assertion

C

Seeded From UniProt

complete

enables

GO:0017080

sodium channel regulator activity

PMID:21873635[3]

ECO:0000318

biological aspect of ancestor evidence used in manual assertion

PANTHER:PTN002552988
UniProtKB:P57727

F

Seeded From UniProt

complete

involved_in

GO:0007605

sensory perception of sound

PMID:21873635[3]

ECO:0000318

biological aspect of ancestor evidence used in manual assertion

MGI:MGI:2155445
PANTHER:PTN002552988
RGD:1310135

P

Seeded From UniProt

complete

involved_in

GO:0006883

cellular sodium ion homeostasis

PMID:21873635[3]

ECO:0000318

biological aspect of ancestor evidence used in manual assertion

PANTHER:PTN002552988
UniProtKB:P57727

P

Seeded From UniProt

complete

part_of

GO:0005789

endoplasmic reticulum membrane

PMID:21873635[3]

ECO:0000318

biological aspect of ancestor evidence used in manual assertion

PANTHER:PTN002552988
UniProtKB:P57727

C

Seeded From UniProt

complete

part_of

GO:0005783

endoplasmic reticulum

PMID:21873635[3]

ECO:0000318

biological aspect of ancestor evidence used in manual assertion

MGI:MGI:2155445
PANTHER:PTN002552988

C

Seeded From UniProt

complete

enables

GO:0017080

sodium channel regulator activity

PMID:12393794[4]

ECO:0000266

sequence orthology evidence used in manual assertion

UniProtKB:P57727

F

Seeded From UniProt

complete

acts_upstream_of_or_within

GO:0006883

cellular sodium ion homeostasis

PMID:12393794[4]

ECO:0000266

sequence orthology evidence used in manual assertion

UniProtKB:P57727

P

Seeded From UniProt

complete

part_of

GO:0005789

endoplasmic reticulum membrane

PMID:12393794[4]

ECO:0000266

sequence orthology evidence used in manual assertion

UniProtKB:P57727

C

Seeded From UniProt

complete

part_of

GO:0005789

endoplasmic reticulum membrane

GO_REF:0000096

ECO:0000266

sequence orthology evidence used in manual assertion

UniProtKB:P57727

C

Seeded From UniProt

complete

involved_in

GO:0016192

vesicle-mediated transport

GO_REF:0000108

ECO:0000366

evidence based on logical inference from automatic annotation used in automatic assertion

GO:0005044

P

Seeded From UniProt

complete

involved_in

GO:0007605

sensory perception of sound

GO_REF:0000107

ECO:0000265

sequence orthology evidence used in automatic assertion

UniProtKB:D3ZY65
ensembl:ENSRNOP00000001540

P

Seeded From UniProt

complete

enables

GO:0017080

sodium channel regulator activity

GO_REF:0000107

ECO:0000265

sequence orthology evidence used in automatic assertion

UniProtKB:P57727
ensembl:ENSP00000291532

F

Seeded From UniProt

complete

involved_in

GO:0006883

cellular sodium ion homeostasis

GO_REF:0000107

ECO:0000265

sequence orthology evidence used in automatic assertion

UniProtKB:P57727
ensembl:ENSP00000291532

P

Seeded From UniProt

complete

part_of

GO:0005789

endoplasmic reticulum membrane

GO_REF:0000107

ECO:0000265

sequence orthology evidence used in automatic assertion

UniProtKB:P57727
ensembl:ENSP00000291532

C

Seeded From UniProt

complete

GO:0010628

positive regulation of gene expression

PMID:23255163[5]

ECO:0000315

P

Figure 2 shows Tmprss3 positively regulates multiple proteins related to Kcnma1 as shown in red portion of Figure 2B,C.

complete
CACAO 13055

enables

GO:0004252

serine-type endopeptidase activity

GO_REF:0000002

ECO:0000256

match to sequence model evidence used in automatic assertion

InterPro:IPR001254
InterPro:IPR001314
InterPro:IPR018114

F

Seeded From UniProt

complete

GO:0010629

negative regulation of gene expression

PMID:23255163[5]

ECO:0000315

P

Figure 2 shows Tmprss3 negatively regulates multiple proteins related to Kcnma1 as shown in green portion of Figure 2B,C.

complete
CACAO 13075

enables

GO:0005044

scavenger receptor activity

GO_REF:0000002

ECO:0000256

match to sequence model evidence used in automatic assertion

InterPro:IPR001190

F

Seeded From UniProt

complete

involved_in

GO:0006508

proteolysis

GO_REF:0000002

ECO:0000256

match to sequence model evidence used in automatic assertion

InterPro:IPR001254
InterPro:IPR001314
InterPro:IPR018114

P

Seeded From UniProt

complete

part_of

GO:0016020

membrane

GO_REF:0000002

ECO:0000256

match to sequence model evidence used in automatic assertion

InterPro:IPR001190
InterPro:IPR017448
InterPro:IPR036772

C

Seeded From UniProt

complete

part_of

GO:0005783

endoplasmic reticulum

PMID:21454591[1]

ECO:0000314

direct assay evidence used in manual assertion

C

Seeded From UniProt

complete

part_of

GO:0016021

integral component of membrane

GO_REF:0000037

ECO:0000322

imported manually asserted information used in automatic assertion

UniProtKB-KW:KW-0812

C

Seeded From UniProt

complete

involved_in

GO:0006508

proteolysis

GO_REF:0000037

ECO:0000322

imported manually asserted information used in automatic assertion

UniProtKB-KW:KW-0645

P

Seeded From UniProt

complete

enables

GO:0008233

peptidase activity

GO_REF:0000037

ECO:0000322

imported manually asserted information used in automatic assertion

UniProtKB-KW:KW-0645

F

Seeded From UniProt

complete

part_of

GO:0016020

membrane

GO_REF:0000037

ECO:0000322

imported manually asserted information used in automatic assertion

UniProtKB-KW:KW-0472

C

Seeded From UniProt

complete

enables

GO:0008236

serine-type peptidase activity

GO_REF:0000037

ECO:0000322

imported manually asserted information used in automatic assertion

UniProtKB-KW:KW-0720

F

Seeded From UniProt

complete

enables

GO:0016787

hydrolase activity

GO_REF:0000037

ECO:0000322

imported manually asserted information used in automatic assertion

UniProtKB-KW:KW-0378

F

Seeded From UniProt

complete

part_of

GO:0005783

endoplasmic reticulum

GO_REF:0000037

ECO:0000322

imported manually asserted information used in automatic assertion

UniProtKB-KW:KW-0256

C

Seeded From UniProt

complete

part_of

GO:0005789

endoplasmic reticulum membrane

GO_REF:0000039

ECO:0000322

imported manually asserted information used in automatic assertion

UniProtKB-SubCell:SL-0097

C

Seeded From UniProt

complete

edit table

Notes

References

See Help:References for how to manage references in GONUTS.

  1. ↑ 1.0 1.1 1.2 1.3 Fasquelle, L et al. (2011) Tmprss3, a transmembrane serine protease deficient in human DFNB8/10 deafness, is critical for cochlear hair cell survival at the onset of hearing. J. Biol. Chem. 286 17383-97 PubMed GONUTS page
  2. ↑ Guipponi, M et al. (2008) An integrated genetic and functional analysis of the role of type II transmembrane serine proteases (TMPRSSs) in hearing loss. Hum. Mutat. 29 130-41 PubMed GONUTS page
  3. ↑ 3.0 3.1 3.2 3.3 3.4 Gaudet, P et al. (2011) Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium. Brief. Bioinformatics 12 449-62 PubMed GONUTS page
  4. ↑ 4.0 4.1 4.2 Guipponi, M et al. (2002) The transmembrane serine protease (TMPRSS3) mutated in deafness DFNB8/10 activates the epithelial sodium channel (ENaC) in vitro. Hum. Mol. Genet. 11 2829-36 PubMed GONUTS page
  5. ↑ 5.0 5.1 Molina, L et al. (2013) Tmprss3 loss of function impairs cochlear inner hair cell Kcnma1 channel membrane expression. Hum. Mol. Genet. 22 1289-99 PubMed GONUTS page
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