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spectrin repeat containing nuclear envelope protein 1

Summary

Gene Symbol

SYNE1

Organism

Homo sapiens (human)

External Links

NCBI Gene

23345

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
B7Z9Y6
B4E3R1
A0A0C4DG40
F8WAI0
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 14 in total

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GO Term	Evidence Code	PMID
positive regulation of mesenchymal cell proliferation	IEA
nucleus organization	NAS	11792814
Golgi organization	IDA	12808039
spermatogenesis	IEA
response to light stimulus	IEA

GO Hierarchy

biological process

cellular process [inference]

cellular developmental process [inference]

cell differentiation [inference]

cardiocyte differentiation [inference]

cardiac muscle cell differentiation

muscle cell differentiation

striated muscle cell differentiation [inference]

cardiac muscle cell differentiation

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

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 [inference]

cardiocyte differentiation [inference]

cardiac muscle cell differentiation

muscle cell differentiation

striated muscle cell differentiation [inference]

cardiac muscle cell differentiation

response to stimulus [inference]

response to abiotic stimulus [inference]

response to radiation [inference]

response to light stimulus

localization [inference]

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

biological regulation [inference]

regulation of biological process [inference]

regulation of signaling [inference]

regulation of signal transduction [inference]

modulation of excitatory postsynaptic potential [inference]

regulation of mini excitatory postsynaptic potential [inference]

negative regulation of mini excitatory postsynaptic potential

negative regulation of excitatory postsynaptic potential [inference]

negative regulation of mini excitatory postsynaptic potential

regulation of trans-synaptic signaling [inference]

modulation of chemical synaptic transmission [inference]

modulation of excitatory postsynaptic potential [inference]

regulation of mini excitatory postsynaptic potential [inference]

negative regulation of mini excitatory postsynaptic potential

negative regulation of excitatory postsynaptic potential [inference]

negative regulation of mini excitatory postsynaptic potential

regulation of localization [inference]

regulation of transport [inference]

positive regulation of transport [inference]

positive regulation of endocytosis [inference]

positive regulation of receptor-mediated endocytosis

regulation of vesicle-mediated transport [inference]

regulation of endocytosis [inference]

positive regulation of endocytosis [inference]

positive regulation of receptor-mediated endocytosis

regulation of receptor-mediated endocytosis [inference]

regulation of receptor internalization [inference]

regulation of postsynaptic neurotransmitter receptor internalization

positive regulation of receptor-mediated endocytosis

positive regulation of biological process [inference]

positive regulation of cellular process [inference]

positive regulation of cell population proliferation [inference]

positive regulation of mesenchymal cell proliferation

positive regulation of cellular component organization [inference]

positive regulation of endocytosis [inference]

positive regulation of receptor-mediated endocytosis

positive regulation of transport [inference]

positive regulation of endocytosis [inference]

positive regulation of receptor-mediated endocytosis

negative regulation of biological process [inference]

negative regulation of cellular process [inference]

negative regulation of programmed cell death [inference]

negative regulation of apoptotic process [inference]

negative regulation of mesenchymal cell apoptotic process

negative regulation of excitatory postsynaptic potential [inference]

negative regulation of mini excitatory postsynaptic potential

regulation of response to stimulus [inference]

regulation of signal transduction [inference]

modulation of excitatory postsynaptic potential [inference]

regulation of mini excitatory postsynaptic potential [inference]

negative regulation of mini excitatory postsynaptic potential

negative regulation of excitatory postsynaptic potential [inference]

negative regulation of mini excitatory postsynaptic potential

regulation of developmental process [inference]

regulation of anatomical structure morphogenesis [inference]

regulation of dendrite morphogenesis

regulation of dendrite development [inference]

regulation of dendrite morphogenesis

regulation of cellular process [inference]

regulation of cell communication [inference]

regulation of signal transduction [inference]

modulation of excitatory postsynaptic potential [inference]

regulation of mini excitatory postsynaptic potential [inference]

negative regulation of mini excitatory postsynaptic potential

negative regulation of excitatory postsynaptic potential [inference]

negative regulation of mini excitatory postsynaptic potential

regulation of trans-synaptic signaling [inference]

modulation of chemical synaptic transmission [inference]

modulation of excitatory postsynaptic potential [inference]

regulation of mini excitatory postsynaptic potential [inference]

negative regulation of mini excitatory postsynaptic potential

negative regulation of excitatory postsynaptic potential [inference]

negative regulation of mini excitatory postsynaptic potential

regulation of cell population proliferation [inference]

positive regulation of cell population proliferation [inference]

positive regulation of mesenchymal cell proliferation

regulation of mesenchymal cell proliferation [inference]

positive regulation of mesenchymal cell proliferation

regulation of programmed cell death [inference]

regulation of apoptotic process [inference]

negative regulation of apoptotic process [inference]

negative regulation of mesenchymal cell apoptotic process

regulation of mesenchymal cell apoptotic process [inference]

negative regulation of mesenchymal cell apoptotic process

negative regulation of programmed cell death [inference]

negative regulation of apoptotic process [inference]

negative regulation of mesenchymal cell apoptotic process

positive regulation of cellular process [inference]

positive regulation of cell population proliferation [inference]

positive regulation of mesenchymal cell proliferation

positive regulation of cellular component organization [inference]

positive regulation of endocytosis [inference]

positive regulation of receptor-mediated endocytosis

negative regulation of cellular process [inference]

negative regulation of programmed cell death [inference]

negative regulation of apoptotic process [inference]

negative regulation of mesenchymal cell apoptotic process

regulation of cellular component organization [inference]

regulation of endocytosis [inference]

positive regulation of endocytosis [inference]

positive regulation of receptor-mediated endocytosis

regulation of receptor-mediated endocytosis [inference]

regulation of receptor internalization [inference]

regulation of postsynaptic neurotransmitter receptor internalization

positive regulation of receptor-mediated endocytosis

regulation of cell projection organization [inference]

regulation of plasma membrane bounded cell projection organization [inference]

regulation of neuron projection development [inference]

regulation of dendrite development [inference]

regulation of dendrite morphogenesis

regulation of organelle organization [inference]

regulation of nucleus organization

positive regulation of cellular component organization [inference]

positive regulation of endocytosis [inference]

positive regulation of receptor-mediated endocytosis

regulation of vesicle-mediated transport [inference]

regulation of endocytosis [inference]

positive regulation of endocytosis [inference]

positive regulation of receptor-mediated endocytosis

regulation of receptor-mediated endocytosis [inference]

regulation of receptor internalization [inference]

regulation of postsynaptic neurotransmitter receptor internalization

positive regulation of receptor-mediated endocytosis

regulation of multicellular organismal process [inference]

regulation of system process [inference]

regulation of nervous system process [inference]

modulation of excitatory postsynaptic potential [inference]

regulation of mini excitatory postsynaptic potential [inference]

negative regulation of mini excitatory postsynaptic potential

negative regulation of excitatory postsynaptic potential [inference]

negative regulation of mini excitatory postsynaptic potential

regulation of biological quality [inference]

regulation of membrane potential [inference]

modulation of excitatory postsynaptic potential [inference]

regulation of mini excitatory postsynaptic potential [inference]

negative regulation of mini excitatory postsynaptic potential

negative regulation of excitatory postsynaptic potential [inference]

negative regulation of mini excitatory postsynaptic potential

regulation of postsynaptic neurotransmitter receptor internalization

Displaying entries **1 - 5** of 19 in total

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GO Term	Evidence Code	PMID
P-body	IDA	24862572
nucleus	HDA	21630459
nuclear envelope	IDA	11792814
nuclear outer membrane	IEA
nucleoplasm	IDA

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 entity [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

cell junction [inference]

synapse [inference]

glutamatergic synapse

midbody

envelope [inference]

organelle envelope [inference]

nuclear envelope

organelle [inference]

membrane-bounded organelle [inference]

intracellular membrane-bounded organelle [inference]

non-membrane-bounded organelle [inference]

intracellular non-membrane-bounded organelle [inference]

nucleolus

cytoskeleton [inference]

actin cytoskeleton [inference]

postsynaptic actin cytoskeleton

postsynaptic cytoskeleton [inference]

postsynaptic actin cytoskeleton

ribonucleoprotein granule [inference]

cytoplasmic ribonucleoprotein granule [inference]

P-body

intracellular organelle [inference]

intracellular membrane-bounded organelle [inference]

intracellular non-membrane-bounded organelle [inference]

nucleolus

cytoskeleton [inference]

actin cytoskeleton [inference]

postsynaptic actin cytoskeleton

postsynaptic cytoskeleton [inference]

postsynaptic actin cytoskeleton

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 10 in total

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GO Term	Evidence Code	PMID
RNA binding	HDA	22658674 22681889
actin binding	IDA	12408964
signaling receptor binding	IEA
protein binding	IPI	12163176 17462627 18396275 22632968 28716842 31413325 33058875 33393904
lamin binding	IPI	11801724

GO Hierarchy

molecular function

binding [inference]

protein 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

organic cyclic compound binding [inference]

nucleic acid binding [inference]

RNA 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.

OrthoDB (Group)

Group level

Eukaryota

Group Name

nesprin-1

Functional Category

E: Amino acid transport and metabolism
O: Posttranslational modification, protein turnover, chaperones
T: Signal transduction mechanisms

Displaying **all 2** entries
InterPro
Spectrin repeat
Spectrin/alpha-actinin

Disease

Disease Ontology

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

Ortholog

Displaying entries **1 - 10** of 20 in total

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Species	Gene ID	Alliance of Genome Resources	Orthologous MAtrix
Drosophila melanogaster	23224	FB:FBgn0261836
Xenopus tropicalis	23345	Xenbase:XB-GENE-5956642
Xenopus tropicalis	64009	Xenbase:XB-GENE-5956642
Drosophila melanogaster	319565	FB:FBgn0261836
Danio rerio	3771968	ZFIN:ZDB-GENE-071218-4
Ornithorhynchus anatinus	100073483		ORNAN16410
Callithrix jacchus	100386277		CALJA31064
Pongo abelii	100445190		PONAB32231
Nomascus leucogenys	100580981		NOMLE27328
Papio anubis	101019502		PAPAN35506

GlyTouCan

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Annotation

OrthoDB (Group)

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Acknowledgements