Query author contributions in Reactome
Reactome depends on collaboration between our curation team and outside experts to assemble and peer-review its pathway modules. The integration of ORCID within Reactome enables us to meet a key challenge with authoring, curating and reviewing biological information by incentivizing and crediting the external experts that contribute their expertise and time to the Reactome curation process. More information is available at ORCID and Reactome.
If you have an ORCID ID that is not listed on this page, please forward this information to us and we will update your Reactome pathway records.
Details on Person UniProt:Q8NF91-9 SYNE1
| Class:Id | ReferenceIsoform:154151 |
|---|---|
| _chainChangeLog | chain:1-8797 added on Fri February 6 2015 |
| _displayName | UniProt:Q8NF91-9 SYNE1 |
| _timestamp | 2024-11-03 20:21:43 |
| chain | chain:1-8797 |
| checksum | 02A53B8AFBF34A17 |
| comment | FUNCTION Multi-isomeric modular protein which forms a linking network between organelles and the actin cytoskeleton to maintain the subcellular spatial organization. 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. May be involved in nucleus-centrosome attachment and nuclear migration in neural progenitors implicating LINC complex association with SUN1/2 and probably association with cytoplasmic dynein-dynactin motor complexes; SYNE1 and SYNE2 may act redundantly. Required for centrosome migration to the apical cell surface during early ciliogenesis. May be involved in nuclear remodeling during sperm head formation in spermatogenesis; a probable SUN3:SYNE1/KASH1 LINC complex may tether spermatid nuclei to posterior cytoskeletal structures such as the manchette.SUBUNIT Core component of LINC complexes which are composed of inner nuclear membrane SUN domain-containing proteins coupled to outer nuclear membrane KASH domain-containing nesprins. SUN and KASH domain-containing proteins seem to bind each other promiscuously; however, differentially expression of LINC complex constituents can give rise to specific assemblies. At least SUN1/2-containing core LINC complexes are proposed to be hexameric composed of three protomers of each KASH and SUN domain-containing protein. The SUN2:SYNE1/KASH1 LINC complex is a heterohexamer; the homotrimeric cloverleave-like conformation of the SUN domain is a prerequisite for LINC complex formation in which three separate SYNE1/KASH1 peptides bind at the interface of adjacent SUN domains. Self-associates. Interacts with SYNE3. Interacts with SPAG4/SUN4. May interact with MUSK. Interacts with F-actin via its N-terminal domain. Interacts with EMD and LMNA in vitro. Interacts (via KASH domain) with TMEM258 (PubMed:28716842).INTERACTION The largest part of the protein is cytoplasmic, while its C-terminal part is associated with the nuclear envelope, most probably the outer nuclear membrane. In skeletal and smooth muscles, a significant amount is found in the sarcomeres. In myoblasts, relocalized from the nuclear envelope to the nucleus and cytoplasm during cell differentiation.SUBCELLULAR LOCATION Expressed in HeLa, A431, A172 and HaCaT cells (at protein level). Widely expressed. Highly expressed in skeletal and smooth muscles, heart, spleen, peripheral blood leukocytes, pancreas, cerebellum, stomach, kidney and placenta. Isoform GSRP-56 is predominantly expressed in heart and skeletal muscle (at protein level).DOMAIN The KASH domain, which contains a transmembrane domain, mediates the nuclear envelope targeting and is involved in the binding to SUN1 and SUN2 through recognition of their SUN domains.PTM The disulfid bond with SUN1 or SUN2 is required for stability of the respective LINC complex under tensile forces.DISEASE The disease is caused by variants affecting the gene represented in this entry.DISEASE The disease is caused by variants affecting the gene represented in this entry.DISEASE The disease is caused by variants affecting the gene represented in this entry.MISCELLANEOUS Lost in uterus, cervix, kidney, lung, thyroid and pancreas carcinomas, already at early tumor stages.MISCELLANEOUS Muscle-specific.MISCELLANEOUS Interacts with TRPV2.SIMILARITY Belongs to the nesprin family.SEQUENCE CAUTION Truncated N-terminus.SEQUENCE CAUTION Extended N-terminus.SEQUENCE CAUTION Contaminating sequence. Sequence of unknown origin.SEQUENCE CAUTION Chimeric cDNA.SEQUENCE CAUTION Truncated N-terminus.SEQUENCE CAUTION Truncated N-terminus.ONLINE INFORMATION Enaptin entry |
| description | recommendedName: fullName evidence="37"Nesprin-1 alternativeName: Enaptin alternativeName: KASH domain-containing protein 1 shortName: KASH1 alternativeName: Myocyte nuclear envelope protein 1 shortName: Myne-1 alternativeName: Nuclear envelope spectrin repeat protein 1 alternativeName: Synaptic nuclear envelope protein 1 shortName: Syne-1 |
| geneName | SYNE1 C6orf98 KIAA0796 KIAA1262 KIAA1756 MYNE1 |
| identifier | Q8NF91 |
| isoformParent | |
| isSequenceChanged | FALSE |
| keyword | 3D-structure Actin-binding Alternative splicing Coiled coil Cytoplasm Cytoskeleton Differentiation Disease variant Disulfide bond Emery-Dreifuss muscular dystrophy Golgi apparatus Membrane Neurodegeneration Nucleus Phosphoprotein Proteomics identification Reference proteome Repeat Spermatogenesis Transmembrane Transmembrane helix |
| modified | [InstanceEdit:9836292] Weiser, Joel, 2023-05-25 [InstanceEdit:9852000] Weiser, Joel, 2023-11-03 [InstanceEdit:9926675] Weiser, Joel, 2024-11-03 |
| name | SYNE1 |
| referenceDatabase | [ReferenceDatabase:2] UniProt |
| referenceGene | [ReferenceDNASequence:8957662] ENSEMBL:ENSG00000131018 SYNE1 [Homo sapiens] |
| secondaryIdentifier | SYNE1_HUMAN B3W695 E7EQI5 H0Y4C0 O94890 Q3ZCV0 Q5JV19 Q5JV22 Q8N9P7 Q8TCP1 Q8WWW6 Q8WWW7 Q8WXF6 Q96N17 Q9C0A7 Q9H525 Q9H526 Q9NS36 Q9NU50 Q9UJ06 Q9UJ07 Q9ULF8 |
| sequenceLength | 8797 |
| species | [Species:48887] Homo sapiens |
| variantIdentifier | Q8NF91-9 |
| [Change default viewing format] | |
No pathways have been reviewed or authored by UniProt:Q8NF91-9 SYNE1 (154151)
