Version 5.4
Homo sapiens Gene: SYNE1
Summary
InnateDB Gene IDBG-98013.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol SYNE1
Gene Name spectrin repeat containing, nuclear envelope 1
Synonyms 8B; ARCA1; C6orf98; CPG2; dJ45H2.2; EDMD4; MYNE1; Nesp1; SCAR8
Species Homo sapiens
Ensembl Gene ENSG00000131018
Encoded Proteins
IDBP-98021
spectrin repeat containing, nuclear envelope 1
IDBP-98027
spectrin repeat containing, nuclear envelope 1
IDBP-98031
spectrin repeat containing, nuclear envelope 1
IDBP-98033
spectrin repeat containing, nuclear envelope 1
IDBP-98035
spectrin repeat containing, nuclear envelope 1
IDBP-98039
spectrin repeat containing, nuclear envelope 1
IDBP-98043
spectrin repeat containing, nuclear envelope 1
IDBP-387925
spectrin repeat containing, nuclear envelope 1
IDBP-387929
spectrin repeat containing, nuclear envelope 1
IDBP-387942
spectrin repeat containing, nuclear envelope 1
IDBP-387943
spectrin repeat containing, nuclear envelope 1
IDBP-597951
spectrin repeat containing, nuclear envelope 1
IDBP-593213
spectrin repeat containing, nuclear envelope 1
IDBP-595786
spectrin repeat containing, nuclear envelope 1
IDBP-596331
spectrin repeat containing, nuclear envelope 1
IDBP-587268
spectrin repeat containing, nuclear envelope 1
IDBP-592207
spectrin repeat containing, nuclear envelope 1
IDBP-586945
spectrin repeat containing, nuclear envelope 1
IDBP-602298
spectrin repeat containing, nuclear envelope 1
IDBP-812512
spectrin repeat containing, nuclear envelope 1
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
Summary This gene encodes a spectrin repeat containing protein expressed in skeletal and smooth muscle, and peripheral blood lymphocytes, that localizes to the nuclear membrane. Mutations in this gene have been associated with autosomal recessive spinocerebellar ataxia 8, also referred to as autosomal recessive cerebellar ataxia type 1 or recessive ataxia of Beauce. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Jul 2008]
Gene Information
Type Protein coding
Genomic Location Chromosome 6:152121684-152637801
Strand Reverse strand
Band q25.2
Transcripts
ENST00000347037
ENST00000367257 ENSP00000356226
ENST00000367256
ENST00000367255 ENSP00000356224
ENST00000367253 ENSP00000356222
ENST00000341594 ENSP00000341887
ENST00000354674 ENSP00000346701
ENST00000367251 ENSP00000356220
ENST00000367248 ENSP00000356217
ENST00000409694
ENST00000448038 ENSP00000390975
ENST00000423061 ENSP00000396024
ENST00000413186 ENSP00000414510
ENST00000454018 ENSP00000390858
ENST00000478916
ENST00000460912
ENST00000472563
ENST00000476519
ENST00000490866
ENST00000489156
ENST00000488376
ENST00000490135
ENST00000471834
ENST00000469439 ENSP00000442805
ENST00000461872
ENST00000474655 ENSP00000440193
ENST00000495090 ENSP00000438508
ENST00000498751
ENST00000466159 ENSP00000446021
ENST00000481502
ENST00000468937
ENST00000539504 ENSP00000441052
ENST00000536990
ENST00000545694
ENST00000540663 ENSP00000437411
ENST00000537033 ENSP00000443879
ENST00000535081
ENST00000535896
ENST00000537750 ENSP00000441264
ENST00000610489 ENSP00000481873
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 34 experimentally validated interaction(s) in this database.
Experimentally validated
Total 34 [view]
Protein-Protein 34 [view]
Protein-DNA 0
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Gene Ontology

Molecular Function
Accession GO Term
GO:0000166 nucleotide binding
GO:0003779 actin binding
GO:0005515 protein binding
GO:0005521 lamin binding
GO:0005524 ATP binding
GO:0042626 ATPase activity, coupled to transmembrane movement of substances
GO:0042803 protein homodimerization activity
GO:0044822 poly(A) RNA binding
GO:0051015 actin filament binding
Biological Process
GO:0006810 transport
GO:0006997 nucleus organization
GO:0007030 Golgi organization
GO:0008219 cell death
GO:0040023 establishment of nucleus localization
GO:0042692 muscle cell differentiation
GO:0055085 transmembrane transport
GO:0090286 cytoskeletal anchoring at nuclear membrane
GO:0090292 nuclear matrix anchoring at nuclear membrane
Cellular Component
GO:0005634 nucleus
GO:0005635 nuclear envelope
GO:0005640 nuclear outer membrane
GO:0005737 cytoplasm
GO:0005794 Golgi apparatus
GO:0005856 cytoskeleton
GO:0016021 integral component of membrane
GO:0030017 sarcomere
GO:0031965 nuclear membrane
GO:0034993 SUN-KASH complex
GO:0045211 postsynaptic membrane
Orthologs
No orthologs found for this gene
Pathways
NETPATH
REACTOME
REACT_75792
Meiotic synapsis pathway
REACT_115566
Cell Cycle pathway
REACT_111183
Meiosis pathway
KEGG
INOH
PID NCI
Cross-References
SwissProt
TrEMBL
UniProt Splice Variant
Entrez Gene
UniGene Hs.12967 Hs.737852 Hs.738925
RefSeq NM_033071 NM_182961 XM_006715407 XM_006715408 XM_006715409 XM_006715410 XM_006715412 XM_006715413 XM_006715415 XM_006715416 XM_006715418 XM_006715419 XM_006715423 XM_006715424 XM_006715425
HUGO
OMIM
CCDS CCDS5235 CCDS5236
HPRD 09762
IMGT
EMBL
GenPept
RNA Seq Atlas

If you use InnateDB for your research, please cite the following publication:

Breuer et al., InnateDB: systems biology of innate immunity and beyond - recent updates and continuing curation. Nucl. Acids Res. (2013) 41 (D1) 

InnateDB is being developed jointly by the Brinkman Laboratory (Simon Fraser University, British Columbia, Canada), the Hancock Laboratory (University of British Columbia, Vancouver, British Columbia) and the Lynn EMBL Australia Group (South Australian Health & Medical Research Institute and Flinders University, Adelaide, Australia).

Funding is currently provided by Allergen and EMBL Australia. Previous funding has been provided by Genome Canada, the Foundation for the National Institutes of Health through the Grand Challenges in Global Health initiative and by Teagasc. InnateDB curated interactions are licensed under the Design Science License. All other data is licensed under the terms of the originating database. Contact: innatedb-mail@sfu.ca