UniProt Protein Function: | |
UniProt Protein Details: | |
NCBI Summary: | This gene is a member of the nesprin family of genes, that encode KASH (Klarsicht, Anc-1, Syne Homology) domain-containing proteins. In addition to the KASH domain, this protein also contains a coiled-coil and leucine zipper region, a spectrin repeat, and a kinesin-1 binding region. This protein localizes to the outer nuclear membrane, and is part of the linker of nucleoskeleton and cytoskeleton (LINC) complex in the nuclear envelope. LINC complexes are formed by SUN (Sad1, UNC-84)-KASH pairs, and are thought to mechanically couple nuclear components to the cytoskeleton. Mutations in this gene have been associated with progressive high-frequency hearing loss. The absence of this protein in mice also caused hearing loss, and changes in hair cell morphology in the ears. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Aug 2015] |
UniProt Code: | Q8N205 |
NCBI GenInfo Identifier: | 89886475 |
NCBI Gene ID: | 163183 |
NCBI Accession: | NP_001034965.1 |
UniProt Secondary Accession: | Q8N205 |
UniProt Related Accession: | Q8N205 |
Molecular Weight: | 32kDa |
NCBI Full Name: | nesprin-4 isoform 1 |
NCBI Synonym Full Names: | spectrin repeat containing nuclear envelope family member 4 |
NCBI Official Symbol: | SYNE4Â Â |
NCBI Official Synonym Symbols: | KASH4; Nesp4; DFNB76; C19orf46Â Â |
NCBI Protein Information: | nesprin-4 |
UniProt Protein Name: | Nesprin-4 |
UniProt Synonym Protein Names: | Nuclear envelope spectrin repeat protein 4 |
Protein Family: | Nesprin |
UniProt Gene Name: | SYNE4Â Â |
UniProt Entry Name: | SYNE4_HUMAN |