TPRN
entrez
286262
canonical
uniprot
Q4KMQ1
canonical
ensembl
ENSG00000176058
resolver
ensp
ENSP00000387100
resolver
genesymbol
TPRN
resolver
genesymbol_syn
C9orf75
resolver
hgnc
HGNC:26894
resolver
uniprot
B7ZKU5
resolver
uniprot
Q5VSG5
resolver
uniprot
Q5VSG6
resolver
uniprot
Q6IPP2
resolver
uniprot
Q8NCH2
resolver
uniprot_entry
TPRN_HUMAN
resolver
uniprot_sec
B7ZKU5
resolver
uniprot_sec
Q5VSG5
resolver
uniprot_sec
Q5VSG6
resolver
uniprot_sec
Q6IPP2
resolver
uniprot_sec
Q8NCH2
resolver
amino_acid_sequence
MAALGRPGSGPRAAVPAWKREILERKRAKLAALGGGAGPGAAEPEQRVLAESLGPLRENPFMLLEAERRRGGGAAGARLLERYRRVPGVRALRADSVLIIETVPGFPPAPPAPGAAQIRAAEVLVYGAPPGRVSRLLERFDPPAAPRRRGSPERARPPPPPPPPAPPRPPPAAPSPPAAPGPRGGGASPGARRSDFLQKTGSNSFTVHPRGLHRGAGARLLSNGHSAPEPRAGPANRLAGSPPGSGQWKPKVESGDPSLHPPPSPGTPSATPASPPASATPSQRQCVSAATSTNDSFEIRPAPKPVMETIPLGDLQARALASLRANSRNSFMVIPKSKASGAPPPEGRQSVELPKGDLGPASPSQELGSQPVPGGDGAPALGKSPLEVEAQWAVEEGACPRTATALADRAIRWQRPSSPPPFLPAASEEAEPAEGLRVPGLAKNSREYVRPGLPVTFIDEVDSEEAPQAAKLPYLPHPARPLHPARPGCVAELQPRGSNTFTVVPKRKPGTLQDQHFSQANREPRPREAEEEEASCLLGPTLKKRYPTVHEIEVIGGYLALQKSCLTKAGSSRKKMKISFNDKSLQTTFEYPSESSLEQEEEVDQQEEEEEEEEEEEEEEEGSGSEEKPFALFLPRATFVSSVRPESSRLPEGSSGLSSYTPKHSVAFSKWQEQALEQAPREAEPPPVEAMLTPASQNDLSDFRSEPALYF
uniprot
proteins
disease_involvement
DISEASE: 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:0000269|PubMed:20170898, ECO:0000269|PubMed:20170899}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Essential for hearing (By similarity). Required for maintenance of stereocilia on both inner and outer hair cells (By similarity). Necessary for the integrity of the stereociliary rootlet (By similarity). May act as an actin cytoskeleton regulator involved in the regulation of actin dynamics at the pointed end in hair cells (By similarity). Forms rings at the base of stereocilia and binds actin filaments in the stereocilia which may stabilize the stereocilia (By similarity). Acts as a strong inhibitor of PPP1CA phosphatase activity (PubMed:23213405). Recruited to sites of DNA damage and may play a role in DNA damage repair (PubMed:23213405). {ECO:0000250|UniProtKB:A2AI08, ECO:0000269|PubMed:23213405}.
uniprot
proteins
mass_dalton
75556
uniprot
proteins
mutagenesis
MUTAGEN 578..580; /note="ISF->ASA: Abolishes interaction with PPP1CA."; /evidence="ECO:0000269|PubMed:23213405
uniprot
proteins
protein_family
Taperin family
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15164053
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
17081983
uniprot
proteins
pubmed
18669648
uniprot
proteins
pubmed
20068231
uniprot
proteins
pubmed
20170898
uniprot
proteins
pubmed
20170899
uniprot
proteins
pubmed
21406692
uniprot
proteins
pubmed
23186163
uniprot
proteins
pubmed
23213405
uniprot
proteins
pubmed
24285636
uniprot
proteins
sequence_length
711
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cell projection, stereocilium {ECO:0000250|UniProtKB:A2AI08}. Cell projection, microvillus {ECO:0000250|UniProtKB:A2AI08}. Nucleus, nucleoplasm {ECO:0000269|PubMed:23213405}. Cytoplasm {ECO:0000269|PubMed:23213405}. Note=Localized prominently at the basal taper region of hair cell stereocilia (By similarity). Forms organized ring-like structures with diameters ranging from 150 to 200 nm in the stereocilium taper region (By similarity). Detected in microvilli of inner hair cell supporting cells (By similarity). Predominantly nuclear in non-stereocilium cells but can shuttle between the nucleus and the cytoplasm (PubMed:23213405). {ECO:0000250|UniProtKB:A2AI08, ECO:0000269|PubMed:23213405}.
uniprot
proteins