SYNE4
entrez
163183
canonical
uniprot
Q8N205
canonical
ensembl
ENSG00000181392
resolver
ensp
ENSP00000316130
resolver
ensp
ENSP00000343152
resolver
ensp
ENSP00000542055
resolver
ensp
ENSP00000542057
resolver
ensp
ENSP00000542058
resolver
ensp
ENSP00000542062
resolver
ensp
ENSP00000542068
resolver
ensp
ENSP00000667238
resolver
ensp
ENSP00000746871
resolver
genesymbol
SYNE4
resolver
genesymbol_syn
C19orf46
resolver
hgnc
HGNC:26703
resolver
uniprot
A8MRS0
resolver
uniprot
A8MYE3
resolver
uniprot
Q7Z7L3
resolver
uniprot_entry
SYNE4_HUMAN
resolver
uniprot_sec
A8MRS0
resolver
uniprot_sec
A8MYE3
resolver
uniprot_sec
Q7Z7L3
resolver
amino_acid_sequence
MALSLPLGPRLGSEPLNHPPGAPREADIVGCTVCPASGEESTSPEQAQTLGQDSLGPPEHFQGGPRGNEPAAHPPRWSTPSSYEDPAGGKHCEHPISGLEVLEAEQNSLHLCLLGLGRRLQDLEQGLGHWALAQSGMVQLQALQVDLRGAAERVEALLAFGEGLAQRSEPRAWAALEQILRALGAYRDSIFRRLWQLQAQLVSYSLVFEEANTLDQDLEVEGDSDWPGPGGVWGPWAPSSLPTSTELEWDPAGDIGGLGPLGQKTARTLGVPCELCGQRGPQGRGQGLEEADTSHSRQDMLESGLGHQKRLARHQRHSLLRKPQDKKRQASPHLQDVRLEGNPGAPDPASRQPLTFLLILFLLFLLLVGAMFLLPASGGPCCSHARIPRTPYLVLSYVNGLPPV
uniprot
proteins
disease_involvement
DISEASE: Deafness, autosomal recessive, 76 (DFNB76) [MIM:615540]: A form of non-syndromic sensorineural deafness, a disorder resulting 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. DFNB76 affected individuals have onset of progressive high frequency hearing impairment between birth and 6 years of age. The hearing loss is severe at high frequencies by adulthood. {ECO:0000269|PubMed:23348741}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: As a component of the LINC (LInker of Nucleoskeleton and Cytoskeleton) complex, involved in the connection between the nuclear lamina and the cytoskeleton. The nucleocytoplasmic interactions established by the LINC complex play an important role in the transmission of mechanical forces across the nuclear envelope and in nuclear movement and positioning (By similarity). Behaves as a kinesin cargo, providing a functional binding site for kinesin-1 at the nuclear envelope. Hence may contribute to the establishment of secretory epithelial morphology by promoting kinesin-dependent apical migration of the centrosome and Golgi apparatus and basal localization of the nucleus (By similarity). {ECO:0000250}.
uniprot
proteins
mass_dalton
43512
uniprot
proteins
post_translational_modification
PTM: The disulfid bond with SUN1 or SUN2 is required for stability of the respective LINC complex under tensile forces. {ECO:0000250|UniProtKB:Q8WXH0}.
uniprot
proteins
protein_family
Nesprin family
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15057824
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
23348741
uniprot
proteins
sequence_length
404
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Nucleus outer membrane {ECO:0000269|PubMed:23348741}; Single-pass type IV membrane protein {ECO:0000269|PubMed:23348741}. Note=Localization at the nucleus outer membrane requires the presence of SUN1. {ECO:0000250}.
uniprot
proteins
transmembrane_region
TRANSMEM 356..376; /note="Helical; Anchor for type IV membrane protein"; /evidence="ECO:0000255|PROSITE-ProRule:PRU00385
uniprot
proteins