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spectrin repeat containing nuclear envelope protein 1

Summary

Gene Symbol

SYNE1

Organism

Homo sapiens (human)

External Links

NCBI Gene

23345

KEGG Gene ID

PubChem

23345

Alliance of Genome Resources

HGNC:17089

Annotation

Keyword

3D-structure
Actin-binding
Alternative splicing
Coiled coil
Cytoskeleton
Disease variant
Disulfide bond
Emery-Dreifuss muscular dystrophy
Golgi apparatus
Neurodegeneration
Nucleus
Phosphoprotein
Proteomics identification
Reference proteome
Repeat
Spermatogenesis
Transmembrane helix

Proteins

Displaying **all 5** entries
UniProt	Protein Name
F8WAI0
B7Z9Y6
A0A0C4DG40	Enaptin KASH domain-containing protein 1 Myocyte nuclear envelope protein 1 Nuclear envelope spectrin repeat protein 1 Synaptic nuclear envelope protein 1
B4E3R1
Q8NF91	Enaptin KASH domain-containing protein 1 Myocyte nuclear envelope protein 1 Nuclear envelope spectrin repeat protein 1 Synaptic nuclear envelope protein 1

Annotation information from UniProt.

Gene Ontology (GO)

Displaying entries **1 - 5** of 9 in total

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GO Term	Evidence Code	PMID
nucleus organization	NAS
Golgi organization	IDA
nuclear migration	IBA
spermatogenesis
cell differentiation

GO Hierarchy

biological process

cellular process [inference]

cellular developmental process [inference]

cell differentiation

muscle cell differentiation

cellular localization [inference]

intracellular transport [inference]

nuclear migration

maintenance of location in cell [inference]

maintenance of protein location in cell [inference]

maintenance of protein localization in organelle [inference]

maintenance of protein location in nucleus [inference]

nuclear matrix anchoring at nuclear membrane

microtubule organizing center localization [inference]

centrosome localization

cellular component organization or biogenesis [inference]

cellular component organization [inference]

organelle organization [inference]

nucleus organization

nuclear matrix organization [inference]

nuclear matrix anchoring at nuclear membrane

Golgi organization

reproductive process [inference]

developmental process involved in reproduction [inference]

spermatogenesis

multicellular organismal reproductive process [inference]

gamete generation [inference]

male gamete generation [inference]

spermatogenesis

developmental process [inference]

developmental process involved in reproduction [inference]

spermatogenesis

cellular developmental process [inference]

cell differentiation

muscle cell differentiation

localization [inference]

establishment of localization [inference]

transport [inference]

intracellular transport [inference]

nuclear migration

establishment of localization in cell [inference]

intracellular transport [inference]

nuclear migration

establishment of organelle localization [inference]

nuclear migration

maintenance of location [inference]

maintenance of protein location [inference]

maintenance of protein location in cell [inference]

maintenance of protein localization in organelle [inference]

maintenance of protein location in nucleus [inference]

nuclear matrix anchoring at nuclear membrane

maintenance of location in cell [inference]

maintenance of protein location in cell [inference]

maintenance of protein localization in organelle [inference]

maintenance of protein location in nucleus [inference]

nuclear matrix anchoring at nuclear membrane

organelle localization [inference]

nucleus localization [inference]

nuclear migration

establishment of organelle localization [inference]

nuclear migration

cellular localization [inference]

intracellular transport [inference]

nuclear migration

microtubule organizing center localization [inference]

centrosome localization

biological regulation [inference]

regulation of biological process [inference]

regulation of cellular process [inference]

regulation of cellular component biogenesis [inference]

regulation of cell projection assembly [inference]

regulation of plasma membrane bounded cell projection assembly [inference]

regulation of cilium assembly

regulation of organelle assembly [inference]

regulation of cilium assembly

regulation of cellular component organization [inference]

regulation of cell projection organization [inference]

regulation of cell projection assembly [inference]

regulation of plasma membrane bounded cell projection assembly [inference]

regulation of cilium assembly

regulation of plasma membrane bounded cell projection organization [inference]

regulation of plasma membrane bounded cell projection assembly [inference]

regulation of cilium assembly

regulation of organelle organization [inference]

regulation of organelle assembly [inference]

regulation of cilium assembly

Displaying entries **11 - 15** of 25 in total

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GO Term	Evidence Code	PMID
Golgi apparatus	IDA
Golgi apparatus	IEA
cytoskeleton	IEA
membrane	IDA
membrane	IEA

GO Hierarchy

cellular component

protein-containing complex [inference]

membrane protein complex [inference]

nuclear membrane protein complex [inference]

nuclear membrane microtubule tethering complex [inference]

meiotic nuclear membrane microtubule tethering complex

nuclear protein-containing complex [inference]

nuclear membrane protein complex [inference]

nuclear membrane microtubule tethering complex [inference]

meiotic nuclear membrane microtubule tethering complex

cellular anatomical structure [inference]

membrane

outer membrane [inference]

organelle outer membrane [inference]

nuclear outer membrane

organelle membrane [inference]

nuclear membrane

nuclear outer membrane

bounding membrane of organelle [inference]

organelle outer membrane [inference]

nuclear outer membrane

plasma membrane region [inference]

synaptic membrane [inference]

postsynaptic membrane

sarcomere

organelle envelope [inference]

nuclear envelope

organelle [inference]

membrane-bounded organelle [inference]

intracellular membrane-bounded organelle [inference]

nucleus

endoplasmic reticulum [inference]

sarcoplasmic reticulum

Golgi apparatus

membraneless organelle [inference]

intracellular membraneless organelle [inference]

ribonucleoprotein granule [inference]

cytoplasmic ribonucleoprotein granule [inference]

P-body

intracellular organelle [inference]

intracellular membrane-bounded organelle [inference]

nucleus

endoplasmic reticulum [inference]

sarcoplasmic reticulum

Golgi apparatus

intracellular membraneless organelle [inference]

ribonucleoprotein granule [inference]

cytoplasmic ribonucleoprotein granule [inference]

P-body

supramolecular complex [inference]

ribonucleoprotein granule [inference]

cytoplasmic ribonucleoprotein granule [inference]

P-body

Displaying entries **1 - 5** of 13 in total

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GO Term	Evidence Code	PMID
RNA binding	HDA
actin binding	IDA
actin binding	IEA
protein binding	IPI
lamin binding	IPI

GO Hierarchy

molecular function

binding [inference]

nucleic acid binding [inference]

RNA binding

protein binding

lamin binding

cytoskeletal protein binding [inference]

actin binding

actin filament binding

enzyme binding

identical protein binding

protein homodimerization activity

protein dimerization activity [inference]

protein homodimerization activity

protein-containing complex binding [inference]

actin filament binding

molecular adaptor activity [inference]

protein-macromolecule adaptor activity [inference]

protein-membrane adaptor activity [inference]

cytoskeleton-nuclear membrane anchor activity

Gene Ontology information from NCBI Gene and UniProt.

Disease

Disease Ontology

Displaying **all 7** entries
DO ID	Disease Name	Source
DOID:0080979	arthrogryposis multiplex congenita-3	Alliance of Genome Resources
DOID:0070249	autosomal dominant Emery-Dreifuss muscular dystrophy 4	Alliance of Genome Resources
DOID:0080954	arthrogryposis multiplex congenita	Alliance of Genome Resources
DOID:0111618	autosomal recessive spinocerebellar ataxia 8	Alliance of Genome Resources
DOID:9884	muscular dystrophy	Alliance of Genome Resources
DOID:0050753	cerebellar ataxia	Alliance of Genome Resources
DOID:3312	bipolar disorder	Alliance of Genome Resources

Ortholog

Displaying **all 2** entries
Species	Gene ID	Alliance of Genome Resources
Mus musculus	64009	MGI:1927152
Drosophila melanogaster	3771968	FB:FBgn0261836

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UniCarb-DR

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