PLS1
entrez
5357
canonical
uniprot
Q14651
canonical
ensembl
ENSG00000120756
resolver
ensp
ENSP00000336831
resolver
ensp
ENSP00000387890
resolver
ensp
ENSP00000418700
resolver
ensp
ENSP00000571016
resolver
ensp
ENSP00000571017
resolver
ensp
ENSP00000571018
resolver
ensp
ENSP00000571019
resolver
ensp
ENSP00000571020
resolver
ensp
ENSP00000571021
resolver
ensp
ENSP00000571023
resolver
ensp
ENSP00000571024
resolver
ensp
ENSP00000571025
resolver
ensp
ENSP00000571026
resolver
ensp
ENSP00000571027
resolver
ensp
ENSP00000571028
resolver
ensp
ENSP00000571030
resolver
ensp
ENSP00000571032
resolver
ensp
ENSP00000571033
resolver
ensp
ENSP00000571034
resolver
ensp
ENSP00000571035
resolver
ensp
ENSP00000571037
resolver
ensp
ENSP00000571038
resolver
ensp
ENSP00000571039
resolver
ensp
ENSP00000571040
resolver
ensp
ENSP00000571041
resolver
ensp
ENSP00000571042
resolver
ensp
ENSP00000571043
resolver
ensp
ENSP00000571044
resolver
ensp
ENSP00000571045
resolver
ensp
ENSP00000571046
resolver
ensp
ENSP00000571047
resolver
ensp
ENSP00000571048
resolver
ensp
ENSP00000571049
resolver
ensp
ENSP00000571050
resolver
ensp
ENSP00000571051
resolver
ensp
ENSP00000571052
resolver
ensp
ENSP00000571053
resolver
ensp
ENSP00000571054
resolver
ensp
ENSP00000571055
resolver
ensp
ENSP00000571056
resolver
ensp
ENSP00000571057
resolver
ensp
ENSP00000571058
resolver
ensp
ENSP00000571059
resolver
ensp
ENSP00000571060
resolver
ensp
ENSP00000571061
resolver
ensp
ENSP00000571062
resolver
ensp
ENSP00000571063
resolver
ensp
ENSP00000571064
resolver
ensp
ENSP00000571065
resolver
ensp
ENSP00000571066
resolver
ensp
ENSP00000571067
resolver
ensp
ENSP00000571068
resolver
ensp
ENSP00000571069
resolver
ensp
ENSP00000571070
resolver
ensp
ENSP00000571071
resolver
ensp
ENSP00000571072
resolver
ensp
ENSP00000607792
resolver
ensp
ENSP00000638230
resolver
ensp
ENSP00000638231
resolver
ensp
ENSP00000638233
resolver
ensp
ENSP00000638234
resolver
ensp
ENSP00000638235
resolver
ensp
ENSP00000638236
resolver
ensp
ENSP00000638237
resolver
ensp
ENSP00000638239
resolver
ensp
ENSP00000638240
resolver
ensp
ENSP00000638241
resolver
ensp
ENSP00000638242
resolver
ensp
ENSP00000638243
resolver
ensp
ENSP00000638244
resolver
ensp
ENSP00000638246
resolver
ensp
ENSP00000638247
resolver
enst
ENST00000337777
resolver
enst
ENST00000457734
resolver
enst
ENST00000497002
resolver
enst
ENST00000900957
resolver
enst
ENST00000900958
resolver
enst
ENST00000900959
resolver
enst
ENST00000900960
resolver
enst
ENST00000900961
resolver
enst
ENST00000900962
resolver
enst
ENST00000900964
resolver
enst
ENST00000900965
resolver
enst
ENST00000900966
resolver
enst
ENST00000900967
resolver
enst
ENST00000900968
resolver
enst
ENST00000900969
resolver
enst
ENST00000900971
resolver
enst
ENST00000900973
resolver
enst
ENST00000900974
resolver
enst
ENST00000900975
resolver
enst
ENST00000900976
resolver
enst
ENST00000900978
resolver
enst
ENST00000900979
resolver
enst
ENST00000900980
resolver
enst
ENST00000900981
resolver
enst
ENST00000900982
resolver
enst
ENST00000900983
resolver
enst
ENST00000900984
resolver
enst
ENST00000900985
resolver
enst
ENST00000900986
resolver
enst
ENST00000900987
resolver
enst
ENST00000900988
resolver
enst
ENST00000900989
resolver
enst
ENST00000900990
resolver
enst
ENST00000900991
resolver
enst
ENST00000900992
resolver
enst
ENST00000900993
resolver
enst
ENST00000900994
resolver
enst
ENST00000900995
resolver
enst
ENST00000900996
resolver
enst
ENST00000900997
resolver
enst
ENST00000900998
resolver
enst
ENST00000900999
resolver
enst
ENST00000901000
resolver
enst
ENST00000901001
resolver
enst
ENST00000901002
resolver
enst
ENST00000901003
resolver
enst
ENST00000901004
resolver
enst
ENST00000901005
resolver
enst
ENST00000901006
resolver
enst
ENST00000901007
resolver
enst
ENST00000901008
resolver
enst
ENST00000901009
resolver
enst
ENST00000901010
resolver
enst
ENST00000901011
resolver
enst
ENST00000901012
resolver
enst
ENST00000901013
resolver
enst
ENST00000937733
resolver
enst
ENST00000968171
resolver
enst
ENST00000968172
resolver
enst
ENST00000968174
resolver
enst
ENST00000968175
resolver
enst
ENST00000968176
resolver
enst
ENST00000968177
resolver
enst
ENST00000968178
resolver
enst
ENST00000968180
resolver
enst
ENST00000968181
resolver
enst
ENST00000968182
resolver
enst
ENST00000968183
resolver
enst
ENST00000968184
resolver
enst
ENST00000968185
resolver
enst
ENST00000968187
resolver
enst
ENST00000968188
resolver
genesymbol
PLS1
resolver
hgnc
HGNC:9090
resolver
uniprot
A8K2Q1
resolver
uniprot
D3DNG3
resolver
uniprot
Q8NEG6
resolver
uniprot_entry
PLSI_HUMAN
resolver
uniprot_sec
A8K2Q1
resolver
uniprot_sec
D3DNG3
resolver
uniprot_sec
Q8NEG6
resolver
amino_acid_sequence
MENSTTTISREELEELQEAFNKIDIDNSGYVSDYELQDLFKEASLPLPGYKVREIVEKILSVADSNKDGKISFEEFVSLMQELKSKDISKTFRKIINKREGITAIGGTSTISSEGTQHSYSEEEKVAFVNWINKALENDPDCKHLIPMNPNDDSLFKSLADGILLCKMINLSEPDTIDERAINKKKLTPFTISENLNLALNSASAIGCTVVNIGASDLKEGKPHLVLGLLWQIIKVGLFADIEISRNEALIALLNEGEELEELMKLSPEELLLRWVNYHLTNAGWHTISNFSQDIKDSRAYFHLLNQIAPKGGEDGPAIAIDLSGINETNDLKRAGLMLQEADKLGCKQFVTPADVVSGNPKLNLAFVANLFNTYPCLHKPNNNDIDMNLLEGESKEERTFRNWMNSLGVNPYINHLYSDLADALVIFQLYEMIRVPVNWSHVNKPPYPALGGNMKKIENCNYAVELGKNKAKFSLVGIAGQDLNEGNSTLTLALVWQLMRRYTLNVLSDLGEGEKVNDEIIIKWVNQTLKSANKKTSISSFKDKSISTSLPVLDLIDAIAPNAVRQEMIRRENLSDEDKLNNAKYAISVARKIGARIYALPDDLVEVKPKMVMTVFACLMGKGLNRIK
uniprot
proteins
disease_involvement
DISEASE: Deafness, autosomal dominant, 76 (DFNA76) [MIM:618787]: A form of non-syndromic deafness characterized by mild to profound sensorineural hearing loss and variable age at onset. Sensorineural hearing loss results from damage to the neural receptors of the inner ear, the nerve pathways to the brain, or the area of the brain that receives sound information. {ECO:0000269|PubMed:30872814, ECO:0000269|PubMed:31397523, ECO:0000269|PubMed:31432506}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Actin-bundling protein. In the inner ear, it is required for stereocilia formation. Mediates liquid packing of actin filaments that is necessary for stereocilia to grow to their proper dimensions. {ECO:0000250|UniProtKB:Q3V0K9}.
uniprot
proteins
mass_dalton
70253
uniprot
proteins
post_translational_modification
PTM: Phosphorylated. {ECO:0000250}.
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
22814378
uniprot
proteins
pubmed
24275569
uniprot
proteins
pubmed
30872814
uniprot
proteins
pubmed
31397523
uniprot
proteins
pubmed
31432506
uniprot
proteins
pubmed
8139549
uniprot
proteins
sequence_length
629
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000250|UniProtKB:Q3V0K9}. Cell projection, stereocilium {ECO:0000250|UniProtKB:Q3V0K9}.
uniprot
proteins