InnateDB Protein
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IDBP-98031.7
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Last Modified
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2014-10-13 [Report errors or provide feedback]
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Gene Symbol
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SYNE1
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Protein Name
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spectrin repeat containing, nuclear envelope 1
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Synonyms
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8B; ARCA1; C6orf98; CPG2; dJ45H2.2; EDMD4; MYNE1; Nesp1; SCAR8;
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Species
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Homo sapiens
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Ensembl Protein
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ENSP00000356222
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InnateDB Gene
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IDBG-98013 (SYNE1)
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Protein Structure
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Function |
Multi-isomeric modular protein which forms a linking network between organelles and the actin cytoskeleton to maintain the subcellular spatial organization. Component of SUN-protein- containing multivariate complexes also called LINC complexes which link the nucleoskeleton and cytoskeleton by providing versatile outer nuclear membrane attachment sites for cytoskeletal filaments. May be involved in the maintenance of nuclear organization and structural integrity. Connects nuclei to the cytoskeleton by interacting with the nuclear envelope and with F- actin in the cytoplasm. May be required for centrosome migration to the apical cell surface during early ciliogenesis. {ECO:0000269PubMed:11792814, ECO:0000269PubMed:18396275}.
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Subcellular Localization |
Nucleus outer membrane {ECO:0000305}; Single-pass type IV membrane protein {ECO:0000305}; Cytoplasmic side {ECO:0000305}. Nucleus. Nucleus envelope. Cytoplasm, cytoskeleton. Cytoplasm, myofibril, sarcomere. Note=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.
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Disease Associations |
Spinocerebellar ataxia, autosomal recessive, 8 (SCAR8) [MIM:610743]: Spinocerebellar ataxia is a clinically and genetically heterogeneous group of cerebellar disorders. Patients show progressive incoordination of gait and often poor coordination of hands, speech and eye movements, due to degeneration of the cerebellum with variable involvement of the brainstem and spinal cord. SCAR8 is an autosomal recessive form. {ECO:0000269PubMed:17159980}. Note=The disease is caused by mutations affecting the gene represented in this entry.Emery-Dreifuss muscular dystrophy 4, autosomal dominant (EDMD4) [MIM:612998]: A form of Emery-Dreifuss muscular dystrophy, a degenerative myopathy characterized by weakness and atrophy of muscle without involvement of the nervous system, early contractures of the elbows, Achilles tendons and spine, and cardiomyopathy associated with cardiac conduction defects. {ECO:0000269PubMed:17761684}. Note=The disease is caused by mutations affecting the gene represented in this entry.
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Tissue Specificity |
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. {ECO:0000269PubMed:11792814, ECO:0000269PubMed:11801724, ECO:0000269PubMed:15093733, ECO:0000269PubMed:22518138}.
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Comments |
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Number of Interactions
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This gene and/or its encoded proteins are associated with 34 experimentally validated interaction(s) in this database.
Experimentally validated |
Total |
34
[view]
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Protein-Protein |
34
[view]
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Protein-DNA |
0
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Protein-RNA |
0
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DNA-DNA |
0
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RNA-RNA |
0
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DNA-RNA |
0
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Molecular Function |
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Biological Process |
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Cellular Component |
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PDB ID |
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InterPro |
IPR001715
Calponin homology domain
IPR018159
Spectrin/alpha-actinin
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PFAM |
PF00307
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PRINTS |
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PIRSF |
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SMART |
SM00033
SM00150
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TIGRFAMs |
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Modification |
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SwissProt |
Q8NF91
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PhosphoSite |
PhosphoSite-Q8NF91
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TrEMBL |
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UniProt Splice Variant |
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Entrez Gene |
23345
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UniGene |
Hs.738925
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RefSeq |
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HUGO |
HGNC:17089
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OMIM |
608441
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CCDS |
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HPRD |
09762
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IMGT |
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EMBL |
AB018339
AB033088
AB051543
AF043290
AF444779
AF495910
AF535142
AK056122
AK094094
AL049548
AL078582
AL136079
AL138832
AL357081
AL450401
AL589963
AL591507
AL713682
AY061755
AY061756
AY135172
AY183142
AY184203
AY184206
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GenPept |
AAC02992
AAL33798
AAL33799
AAL38031
AAM95335
AAN03486
AAN60442
AAO23669
AAO27771
AAO27774
BAA34516
BAA86576
BAB21847
BAB71097
BAC04284
CAD28486
CAI40728
CAI40729
CAI41322
CAI42283
CAI42284
CAI42785
CAI42786
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