Version 5.4
Homo sapiens Protein: TPRN
Summary
InnateDB Protein IDBP-293829.5
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol TPRN
Protein Name taperin
Synonyms
Species Homo sapiens
Ensembl Protein ENSP00000387100
InnateDB Gene IDBG-93203 (TPRN)
Protein Structure
UniProt Annotation
Function
Subcellular Localization Cell projection, stereocilium {ECO:0000250}. Note=Localized prominently at the taper regions of hair cell stereocilia. {ECO:0000250}.
Disease Associations Deafness, autosomal recessive, 79 (DFNB79) [MIM:613307]: A form of non-syndromic deafness characterized by progressive and severe sensorineural hearing loss. There are no symptoms of vestibular dysfunction. {ECO:0000269PubMed:20170898, ECO:0000269PubMed:20170899}. Note=The disease is caused by mutations affecting the gene represented in this entry.
Tissue Specificity Expression is detected in fetal cochlea. {ECO:0000269PubMed:20170898}.
Comments
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 4 experimentally validated interaction(s) in this database.
Experimentally validated
Total 4 [view]
Protein-Protein 4 [view]
Protein-DNA 0
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Gene Ontology

Molecular Function
Accession GO Term
GO:0003674 molecular_function
GO:0019902 phosphatase binding
Biological Process
GO:0007605 sensory perception of sound
Cellular Component
GO:0032420 stereocilium
Protein Structure and Domains
PDB ID
InterPro
PFAM
PRINTS
PIRSF
SMART
TIGRFAMs
Post-translational Modifications
Modification
Cross-References
SwissProt Q4KMQ1
PhosphoSite PhosphoSite-Q4KMQ1
TrEMBL Q86WR5
UniProt Splice Variant
Entrez Gene 286262
UniGene Hs.323445
RefSeq NP_001121700
HUGO HGNC:26894
OMIM 613354
CCDS CCDS56594
HPRD 12977
IMGT
EMBL AK074735 AL929554 BC048807 BC071831 BC098411 BC111500 BC128601 BC143385
GenPept AAH48807 AAH71831 AAH98411 AAI11501 AAI28602 AAI43386 BAC11169 CAH72883 CAH72884

If you use InnateDB for your research, please cite the following publication:

Breuer et al., InnateDB: systems biology of innate immunity and beyond - recent updates and continuing curation. Nucl. Acids Res. (2013) 41 (D1) 

InnateDB is being developed jointly by the Brinkman Laboratory (Simon Fraser University, British Columbia, Canada), the Hancock Laboratory (University of British Columbia, Vancouver, British Columbia) and the Lynn EMBL Australia Group (South Australian Health & Medical Research Institute and Flinders University, Adelaide, Australia).

Funding is currently provided by Allergen and EMBL Australia. Previous funding has been provided by Genome Canada, the Foundation for the National Institutes of Health through the Grand Challenges in Global Health initiative and by Teagasc. InnateDB curated interactions are licensed under the Design Science License. All other data is licensed under the terms of the originating database. Contact: innatedb-mail@sfu.ca