InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: SYNE1

Summary

InnateDB Protein

IDBP-387929.5

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

SYNE1

Protein Name

spectrin repeat containing, nuclear envelope 1

Synonyms

8B; ARCA1; C6orf98; CPG2; dJ45H2.2; EDMD4; MYNE1; Nesp1; SCAR8;

Species

Homo sapiens

Ensembl Protein

ENSP00000396024

InnateDB Gene

IDBG-98013 (SYNE1)

Protein Structure

UniProt Annotation

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}.

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.

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.

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}.

Comments

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: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: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

Protein Structure and Domains

PDB ID

InterPro

IPR001715 Calponin homology domain
IPR002017 Spectrin repeat
IPR011527 ABC transporter type 1, transmembrane domain
IPR012315 KASH domain
IPR018159 Spectrin/alpha-actinin
IPR022682 Peptidase C2, calpain, large subunit, domain III

PFAM

PF00307
PF00435
PF10541
PF01067

PRINTS

PIRSF

SMART

SM00033
SM00150

TIGRFAMs

Post-translational Modifications

Modification

Cross-References

SwissProt

Q8NF91