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Aliases for SYNE1 Gene

Aliases for SYNE1 Gene

  • Spectrin Repeat Containing, Nuclear Envelope 1 2 3
  • Myocyte Nuclear Envelope Protein 1 2 3 4
  • Synaptic Nuclear Envelope Protein 1 3 4
  • KIAA0796 4 6
  • KIAA1756 4 6
  • KIAA1262 4 6
  • Enaptin 3 4
  • C6orf98 3 4
  • EDMD4 3 6
  • SCAR8 3 6
  • MYNE1 3 4
  • Nuclear Envelope Spectrin Repeat Protein 1 4
  • Nuclear Envelope Spectrin Repeat-1 2
  • Chromosome 6 Open Reading Frame 98 2
  • Synaptic Nuclei Expressed Gene 1 3
  • EC 4.2.1.49 63
  • EC 4.3.1.3 63
  • Nesprin 1 3
  • Nesprin-1 3
  • DJ45H2.2 3
  • Myne-1 4
  • Syne-1 4
  • ARCA1 3
  • Nesp1 3
  • CPG2 3
  • 8B 3

External Ids for SYNE1 Gene

Previous Symbols for SYNE1 Gene

  • C6orf98

Summaries for SYNE1 Gene

Entrez Gene Summary for SYNE1 Gene

  • 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]

GeneCards Summary for SYNE1 Gene

SYNE1 (Spectrin Repeat Containing, Nuclear Envelope 1) is a Protein Coding gene. Diseases associated with SYNE1 include spinocerebellar ataxia, autosomal recessive 8 and emery-dreifuss muscular dystrophy 4, autosomal dominant. Among its related pathways are Cell Cycle, Mitotic and Meiosis. GO annotations related to this gene include protein homodimerization activity and lamin binding. An important paralog of this gene is ACTN2.

UniProtKB/Swiss-Prot for SYNE1 Gene

  • 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.

No data available for Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for SYNE1 Gene

Genomics for SYNE1 Gene

Genomic Location for SYNE1 Gene

Start:
152,121,684 bp from pter
End:
152,637,801 bp from pter
Size:
516,118 bases
Orientation:
Minus strand

Genomic View for SYNE1 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for SYNE1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SYNE1 Gene

Regulatory Elements for SYNE1 Gene

Proteins for SYNE1 Gene

  • Protein details for SYNE1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8NF91-SYNE1_HUMAN
    Recommended name:
    Nesprin-1
    Protein Accession:
    Q8NF91
    Secondary Accessions:
    • B3W695
    • E7EQI5
    • H0Y4C0
    • O94890
    • Q3ZCV0
    • Q5JV19
    • Q5JV22
    • Q8N9P7
    • Q8TCP1
    • Q8WWW6
    • Q8WWW7
    • Q8WXF6
    • Q96N17
    • Q9C0A7
    • Q9H525
    • Q9H526
    • Q9NS36
    • Q9NU50
    • Q9UJ06
    • Q9UJ07
    • Q9ULF8

    Protein attributes for SYNE1 Gene

    Size:
    8797 amino acids
    Molecular mass:
    1011086 Da
    Quaternary structure:
    • Dimer. Core component of the LINC complex which is composed of inner nuclear membrane SUN domain-containing proteins coupled to outer nuclear membrane KASH domain-containing nesprins. SUN domain-containing proteins interact with A-type lamins of the nuclear lamina, while at the other end of the complex, nesprins interact with unique cytoskeletal components. Interacts with SYNE3. May interact with MUSK (By similarity). Interacts with F-actin via its N-terminal domain (By similarity). Interacts with EMD and LMNA in vitro.
    SequenceCaution:
    • Sequence=AAC02992.2; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305}; Sequence=AAH39121.1; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305}; Sequence=AAM95335.1; Type=Miscellaneous discrepancy; Note=Contaminating sequence. Sequence of unknown origin.; Evidence={ECO:0000305}; Sequence=BAB71097.1; Type=Miscellaneous discrepancy; Note=Chimeric cDNA.; Evidence={ECO:0000305}; Sequence=BAC04284.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305}; Sequence=CAD28486.2; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for SYNE1 Gene

    Alternative splice isoforms for SYNE1 Gene

neXtProt entry for SYNE1 Gene

Proteomics data for SYNE1 Gene at MOPED

Selected DME Specific Peptides for SYNE1 Gene

Post-translational modifications for SYNE1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Domains for SYNE1 Gene

Graphical View of Domain Structure for InterPro Entry

Q8NF91

UniProtKB/Swiss-Prot:

SYNE1_HUMAN
Domain:
  • The KASH domain, which contains a transmembrane domain, mediates the nuclear envelope targeting and is involved in the binding to SUN1 and SUN2 through recognition of their SUN domains.:
    • Q8NF91
  • Contains 1 actin-binding domain.:
    • Q8NF91
  • Contains 2 CH (calponin-homology) domains.:
    • Q8NF91
  • Contains 1 KASH domain.:
    • Q8NF91
Family:
  • Belongs to the nesprin family.:
    • Q8NF91
Similarity:
  • Contains 74 spectrin repeats.:
    • Q8NF91
genes like me logo Genes that share domains with SYNE1: view

No data available for Gene Families for SYNE1 Gene

Function for SYNE1 Gene

Molecular function for SYNE1 Gene

UniProtKB/Swiss-Prot 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.

Enzyme Numbers (IUBMB) for SYNE1 Gene

Gene Ontology (GO) - Molecular Function for SYNE1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000166 nucleotide binding --
GO:0003779 actin binding IDA 12408964
GO:0005515 protein binding IPI 12812986
GO:0005521 lamin binding IPI 11801724
GO:0005524 ATP binding --
genes like me logo Genes that share ontologies with SYNE1: view
genes like me logo Genes that share phenotypes with SYNE1: view

Animal Models for SYNE1 Gene

MGI Knock Outs for SYNE1:

No data available for Transcription Factor Targeting and HOMER Transcription for SYNE1 Gene

Localization for SYNE1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for SYNE1 Gene

Nucleus outer membrane; Single-pass type IV membrane protein; Cytoplasmic side. 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.
Isoform GSRP-56: Golgi apparatus.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for SYNE1 Gene COMPARTMENTS Subcellular localization image for SYNE1 gene
Compartment Confidence
cytoskeleton 5
endoplasmic reticulum 5
golgi apparatus 5
mitochondrion 5
nucleus 5
plasma membrane 5
cytosol 3
peroxisome 1

Gene Ontology (GO) - Cellular Components for SYNE1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IDA 21630459
GO:0005635 nuclear envelope IDA 11792814
GO:0005640 nuclear outer membrane IEA --
GO:0005654 nucleoplasm IDA --
GO:0005737 cytoplasm IDA --
genes like me logo Genes that share ontologies with SYNE1: view

Pathways for SYNE1 Gene

genes like me logo Genes that share pathways with SYNE1: view

Pathways by source for SYNE1 Gene

4 Reactome pathways for SYNE1 Gene

Gene Ontology (GO) - Biological Process for SYNE1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006810 transport --
GO:0006997 nucleus organization NAS 11792814
GO:0007030 Golgi organization IDA 12808039
GO:0008219 cell death --
GO:0040023 establishment of nucleus localization IEA --
genes like me logo Genes that share ontologies with SYNE1: view

Compounds for SYNE1 Gene

(7) Novoseek inferred chemical compound relationships for SYNE1 Gene

Compound -log(P) Hits PubMed IDs
cmda 96.1 4
benzoic acid 62.8 2
glutamate 37.6 6
carbamate 37.2 1
phenol 34.5 3
genes like me logo Genes that share compounds with SYNE1: view

Transcripts for SYNE1 Gene

Unigene Clusters for SYNE1 Gene

Spectrin repeat containing, nuclear envelope 1:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for SYNE1 Gene

No ASD Table

Relevant External Links for SYNE1 Gene

GeneLoc Exon Structure for
SYNE1
ECgene alternative splicing isoforms for
SYNE1

Expression for SYNE1 Gene

mRNA expression in normal human tissues for SYNE1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for SYNE1 Gene

SOURCE GeneReport for Unigene cluster for SYNE1 Gene Hs.12967

mRNA Expression by UniProt/SwissProt for SYNE1 Gene

Q8NF91-SYNE1_HUMAN
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. Isoform GSRP-56 is predominantly expressed in heart and skeletal muscle (at protein level).
genes like me logo Genes that share expressions with SYNE1: view

No data available for mRNA differential expression in normal tissues for SYNE1 Gene

Orthologs for SYNE1 Gene

This gene was present in the common ancestor of animals.

Orthologs for SYNE1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia SYNE1 35
  • 98.97 (n)
  • 98.85 (a)
SYNE1 36
  • 99 (a)
OneToOne
cow
(Bos Taurus)
Mammalia SYNE1 36
  • 90 (a)
OneToOne
dog
(Canis familiaris)
Mammalia SYNE1 35
  • 89.68 (n)
  • 91.76 (a)
SYNE1 36
  • 92 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Syne1 35
  • 84.41 (n)
  • 87.86 (a)
Syne1 16
Syne1 36
  • 91 (a)
OneToMany
Syne1 36
  • 86 (a)
OneToMany
oppossum
(Monodelphis domestica)
Mammalia SYNE1 36
  • 83 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia SYNE1 36
  • 81 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Syne1 35
  • 82.79 (n)
  • 85.84 (a)
chicken
(Gallus gallus)
Aves SYNE1 35
  • 73.17 (n)
  • 73.77 (a)
SYNE1 36
  • 74 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia SYNE1 36
  • 72 (a)
OneToOne
zebrafish
(Danio rerio)
Actinopterygii SYNE1 (2 of 2) 36
  • 30 (a)
OneToMany
syne1b 35
  • 61.7 (n)
  • 57.82 (a)
syne1b 36
  • 58 (a)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta Msp-300 36
  • 12 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea anc-1 36
  • 16 (a)
OneToMany
Species with no ortholog for SYNE1:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)

Evolution for SYNE1 Gene

ENSEMBL:
Gene Tree for SYNE1 (if available)
TreeFam:
Gene Tree for SYNE1 (if available)

Paralogs for SYNE1 Gene

genes like me logo Genes that share paralogs with SYNE1: view

Variants for SYNE1 Gene

Sequence variations from dbSNP and Humsavar for SYNE1 Gene

SNP ID Clin Chr 06 pos Sequence Context AA Info Type MAF
rs1538 -- 152,310,898(+) TTCAT(A/G)ACATT intron-variant
rs12681 -- 152,122,254(-) GTGAC(A/G)GGGGA utr-variant-3-prime
rs20531 -- 152,270,207(+) ATTAA(C/T)AGACT intron-variant
rs20585 -- 152,393,311(+) AGAGA(A/C)GAAAT intron-variant
rs70015 -- 152,452,824(-) GACTT(G/T)TGTGT intron-variant

Structural Variations from Database of Genomic Variants (DGV) for SYNE1 Gene

Variant ID Type Subtype PubMed ID
nsv5542 CNV Insertion 18451855
nsv886775 CNV Loss 21882294
nsv518810 CNV Loss 19592680
esv2537738 CNV Deletion 19546169
nsv5544 CNV Insertion 18451855
esv2732905 CNV Deletion 23290073
esv2732907 CNV Deletion 23290073
nsv349055 CNV Loss 16902084
esv991344 CNV Deletion 20482838
esv2732908 CNV Deletion 23290073
nsv886776 CNV Loss 21882294
nsv818461 CNV Gain 17921354
nsv5545 CNV Insertion 18451855
nsv830846 CNV Loss 17160897
nsv508434 CNV Loss 20534489
nsv507369 CNV Insertion 20534489
nsv464082 CNV Gain 19166990
esv2673379 CNV Deletion 23128226
esv1005915 CNV Insertion 20482838
esv1098429 CNV Insertion 17803354
esv22532 CNV Loss 19812545
esv2732909 CNV Deletion 23290073

Relevant External Links for SYNE1 Gene

HapMap Linkage Disequilibrium report
SYNE1
Human Gene Mutation Database (HGMD)
SYNE1
Locus Specific Mutation Databases (LSDB)
SYNE1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SYNE1 Gene

Disorders for SYNE1 Gene

(2) OMIM Diseases for SYNE1 Gene (608441)

UniProtKB/Swiss-Prot

SYNE1_HUMAN
  • 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:0000269 PubMed: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:0000269 PubMed:17761684}. Note=The disease is caused by mutations affecting the gene represented in this entry.

(2) University of Copenhagen DISEASES for SYNE1 Gene

(11) Novoseek inferred disease relationships for SYNE1 Gene

Disease -log(P) Hits PubMed IDs
colon carcinoma 50.2 2
colon adenocarcinoma 34.6 2
choriocarcinoma 31.8 1
tumors 24.3 25
breast carcinoma 17.5 2

Relevant External Links for SYNE1

GeneTests
SYNE1
GeneReviews
SYNE1
Genetic Association Database (GAD)
SYNE1
Human Genome Epidemiology (HuGE) Navigator
SYNE1
genes like me logo Genes that share disorders with SYNE1: view

Publications for SYNE1 Gene

  1. Syne-1, a dystrophin- and Klarsicht-related protein associated with synaptic nuclei at the neuromuscular junction. (PMID: 10878022) Apel E.D. … Sanes J.R. (J. Biol. Chem. 2000) 2 3 23
  2. Nesprins: a novel family of spectrin-repeat-containing proteins that localize to the nuclear membrane in multiple tissues. (PMID: 11792814) Zhang Q. … Shanahan C.M. (J. Cell Sci. 2001) 3 4 23
  3. The nesprins are giant actin-binding proteins, orthologous to Drosophila melanogaster muscle protein MSP-300. (PMID: 12408964) Zhang Q. … Roberts R.G. (Genomics 2002) 3 4 23
  4. Enaptin, a giant actin-binding protein, is an element of the nuclear membrane and the actin cytoskeleton. (PMID: 15093733) Padmakumar V.C. … Korenbaum E. (Exp. Cell Res. 2004) 3 4 23
  5. Golgi localization of Syne-1. (PMID: 12808039) Gough L.L. … Beck K.A. (Mol. Biol. Cell 2003) 3 4 23

Products for SYNE1 Gene

Sources for SYNE1 Gene

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