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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

SYNE1 Gene

protein-coding GIFtS: 62
GCID: GC06M152485

spectrin repeat containing, nuclear envelope 1

(Previous name: chromosome 6 open reading frame 98 )
(Previous symbol: C6orf98)

Explore 23 diseases affiliated with
SYNE1 via

MalaCards

our new
Human Malady Compendium

(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc, ⁷Ensembl, ⁸DME, ⁹miRBase, and/or ¹⁰fRNAdb)
About This Section

Aliases
Spectrin Repeat Containing, Nuclear Envelope 1¹ ²		KIAA1756³ ⁵
C6orf98¹ ² ³		Nesprin-1¹
MYNE1¹ ² ³		SYNE-1B¹
SCAR8¹ ² ⁵		Chromosome 6 Open Reading Frame 98¹
KIAA0796¹ ³ ⁵		Nesprin 1²
8B¹ ²		Nesprin-1¹
ARCA1¹ ²		Nuclear Envelope Spectrin Repeat-1²
CPG2¹ ²		Synaptic Nuclei Expressed Gene 1²
Nesp1¹ ²		Enaptin³
DJ45H2.2¹		Myne-1³
Enaptin³		Syne-1³
Myocyte Nuclear Envelope Protein 1² ³		Nuclear Envelope Spectrin Repeat Protein 1³
Synaptic Nuclear Envelope Protein 1² ³		EC 4.2.1.49⁸
EDMD4² ⁵		EC 4.3.1.3⁸
KIAA1262³ ⁵

External Ids:	HGNC: 17089¹	Entrez Gene: 23345²	Ensembl: ENSG00000131018⁷	OMIM: 608441⁵	UniProtKB: Q8NF91³

Export aliases for SYNE1 gene to outside databases

Previous GC identifers: GC06M152338 GC06M152473 GC06M152534 GC06M150004

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for SYNE1:

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)

UniProtKB/Swiss-Prot: SYNE1_HUMAN, Q8NF91

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

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section

RefSeq DNA sequence:

NC_000006.11 NC_018917.1 NT_025741.15

Regulatory elements:

SABiosciences Regulatory transcription factor binding sites in the SYNE1 gene promoter:
NF-1 HNF-4alpha2 Nkx2-5 GATA-2 PPAR-gamma1 COMP1 PPAR-gamma2 RSRFC4
Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: SYNE1 promoter sequence

Search SABiosciences Chromatin IP Primers for SYNE1

Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat SYNE1

Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 6q25 Ensembl cytogenetic band: 6q25.2 HGNC cytogenetic band: 6q24.2-q25.3

SYNE1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
SYNE1 gene location

GeneLoc information about chromosome 6 GeneLoc Exon Structure

GeneLoc location for GC06M152485: view genomic region (about GC identifiers)

Start:	152,442,819 bp from pter	End:	152,958,936 bp from pter
Size:	516,118 bases	Orientation:	minus strand

(According to ¹UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to ²PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

UniProtKB/Swiss-Prot: SYNE1_HUMAN, Q8NF91 (See protein sequence)

Recommended Name: Nesprin-1

Size: 8797 amino acids; 1011086 Da

Subunit: Dimer. Component of LINC complexes composed of SUN domain-containing proteins SUN1 or SUN2 coupled to KASH

domain-containing proteins (SYNE1, SYNE2 or SYNE3) also called nesprins. May interact with MUSK (By similarity).

Interacts with F-actin via its N-terminal domain (By similarity). Interacts with EMD and LMNA in vitro. Interacts with

SYNE3

Subcellular location: Nucleus outer membrane; Single-pass type IV membrane protein; Cytoplasmic side (Potential).

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

Sequence caution: Sequence=AAC02992.2; Type=Erroneous initiation; Note=Translation N-terminally extended;

Sequence=AAL38031.1; Type=Erroneous initiation; Note=Translation N-terminally extended; Sequence=AAM95335.1;

Type=Miscellaneous discrepancy; Note=Contaminating sequence. Sequence of unknown origin; Sequence=BAB71097.1;

Type=Miscellaneous discrepancy; Note=Chimeric cDNA; Sequence=BAC04284.1; Type=Erroneous initiation; Note=Translation

N-terminally extended; Sequence=CAD28486.2; Type=Erroneous initiation; Note=Translation N-terminally extended;

1 PDB 3D structure from and Proteopedia for SYNE1:

4DXR (3D)

Secondary accessions: E7EQI5 O94890 Q5JV19 Q5JV22 Q8N9P7 Q8TCP1 Q8WWW6 Q8WWW7 Q8WXF6 Q96N17 Q9C0A7

Q9H525 Q9H526 Q9NS36 Q9NU50 Q9UJ06 Q9UJ07 Q9ULF8

Alternative splicing: 9 isoforms: Q8NF91-1 Q8NF91-2 Q8NF91-3 Q8NF91-4 Q8NF91-5 Q8NF91-6 Q8NF91-7 Q8NF91-8

Q8NF91-9 (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for SYNE1: NX_Q8NF91

Post-translational modifications:

View modification sites using PhosphoSitePlus²

View neXtProt modification sites for NX_Q8NF91

2 DME Specific Peptides for SYNE1 (Q8NF91)

KGFKIDI

PASVDSI

SYNE1 Protein expression data from MOPED and PaxDb: About this image

REFSEQ proteins (2 alternative transcripts):

NP_149062.1 NP_892006.3

ENSEMBL proteins:

ENSP00000356224 ENSP00000441052 ENSP00000356226 ENSP00000396024 ENSP00000356220

ENSP00000346701 ENSP00000437411 ENSP00000443879 ENSP00000390858 ENSP00000442805

ENSP00000356222 ENSP00000356217 ENSP00000414510 ENSP00000438508 ENSP00000440193

ENSP00000446021 ENSP00000441264 ENSP00000265368 ENSP00000390975 ENSP00000341887

ENSP00000349276

Reactome Protein details: Q8NF91
Human Recombinant Protein Products:

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	Browse OriGene full length recombinant human proteins expressed in human HEK293 cells Browse OriGene Protein Over-expression Lysates OriGene Custom Protein Services for SYNE1
	GenScript Custom Purified and Recombinant Proteins Services for SYNE1
	Novus Biologicals SYNE1 Protein
	Browse Sino Biological Recombinant Proteins
	Browse ProSpec Recombinant Proteins
	Uscn Proteins for SYNE1

Gene Ontology (GO): 5/12 cellular component terms (GO ID links to tree view) (see all 12): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005634	nucleus	IDA	--
GO:0005635	nuclear envelope	IDA	11792814
GO:0005640	nuclear outer membrane	IEA	--
GO:0005730	NOT nucleolus	IDA	--
GO:0005737	cytoplasm	IDA	--

SYNE1 for ontologies About GeneDecksing

SYNE1 Antibody Products:

	Browse EMD Millipore's Extensive Line of Mono- and Polyclonal Antibodies
	Browse R&D Systems for Antibodies
	Browse OriGene Antibodies OriGene Custom Antibody Services for SYNE1
	GenScript Custom Superior Antibodies Services for SYNE1
	Novus Biologicals SYNE1 Antibodies
	Search for Antibodies for SYNE1 at Abcam
	Uscn Antibodies for SYNE1
	ThermoFisher Antibody for SYNE1

Assay Products for SYNE1:

	Browse Kits and Assays available from EMD Millipore
	OriGene Custom Immunoassay Development Browse OriGene Fluorogenic Cell Assay Kits
	Browse R&D Systems for biochemical assays
	GenScript Custom Assay Services for SYNE1
	Browse Enzo Life Sciences for kits & assays
	Uscn ELISAs and CLIAs for SYNE1

(According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
About This Section

SYNE1 for domains About GeneDecksing

5 InterPro domains/families:

IPR002017 Spectrin_repeat

IPR001715 CH-domain

IPR001589 Actinin_actin-bd_CS

IPR012315 KASH

IPR018159 Spectrin/alpha-actinin

Graphical View of Domain Structure for InterPro Entry Q8NF91

ProtoNet protein and cluster: Q8NF91

3 Blocks protein families:

IPB001589 Actin-binding

IPB001715 Calponin-like actin-binding

IPB002017 Spectrin repeat

UniProtKB/Swiss-Prot: SYNE1_HUMAN, Q8NF91

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

Similarity: Belongs to the nesprin family

Similarity: Contains 1 actin-binding domain

Similarity: Contains 2 CH (calponin-homology) domains

Similarity: Contains 12 HAT repeats

Similarity: Contains 1 KASH domain

Similarity: Contains 31 spectrin repeats

(According to ¹UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or ²DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
About This Section

Function Summary:

UniProtKB/Swiss-Prot: SYNE1_HUMAN, Q8NF91

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): EC 4.2.1.49² EC 4.3.1.3²

miRNA Products:		miRTarBase miRNAs that target SYNE1: hsa-mir-1 (MIRT001329)

		OriGene 3'-UTR Clone (see all 4): SYNE1 Browse MicroRNA Expression Plasmids
		QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat SYNE1
		8/16 QIAGEN miScript miRNA Assays for microRNAs that regulate SYNE1 (see all 16):
		hsa-miR-548p hsa-miR-519d hsa-miR-20a hsa-miR-374b hsa-miR-106a hsa-miR-106b hsa-miR-374a hsa-miR-548g

		SwitchGear 3'UTR luciferase reporter plasmid: SYNE1 3' UTR sequence

Inhib. RNA Products:		Browse for Gene Knock-down Tools from EMD Millipore
		OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for SYNE1 (see all 4) OriGene shRNA RFP: SYNE1 Browse OriGene siRNA
		QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat SYNE1

Gene Editing
Products:

DNA2.0 Custom Protein Engineering Service for SYNE1

Clone Products:		Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore
		OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for SYNE1 (see all 6) OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for SYNE1 (see all 4) OriGene custom cloning services � gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
		GenScript: all cDNA clones in your preferred vector (see all 2): SYNE1 (NM_182961)
		Browse Sino Biological Human cDNA Clones
		DNA2.0 Custom Codon Optimized Gene Synthesis Service for SYNE1
		Search Vector BioLabs for ready-to-use adenovirus/AAV for human, mouse, rat SYNE1

Cell Line Products:		GenScript Custom overexpressing Cell Line Services for SYNE1
		Search LifeMap BioReagents cell lines for SYNE1

In Situ Assay
Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SYNE1

Gene Ontology (GO): 4 molecular function terms (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0003779	actin binding	IDA	12408964
GO:0005515	protein binding	IPI	--
GO:0005521	lamin binding	IPI	11801724
GO:0042803	protein homodimerization activity	ISS	--

SYNE1 for ontologies About GeneDecksing

1 GenomeRNAi human phenotype for SYNE1:

Increased S DNA content

Animal Models:
Mouse knock-outs for SYNE1: Syne1^tm1.1Chen Syne1^tm1Rexu Syne1^tm1Chen Syne1^tm1.1Mcn
12 MGI mutant phenotypes (inferred from 5 alleles) (MGI details for Syne1):

behavior/neurological	cardiovascular system	growth/size	homeostasis/metabolism	immune system
mortality/aging	muscle	nervous system	no phenotypic analysis	respiratory system
skeleton	vision/eye

SYNE1 for phenotypes About GeneDecksing

(Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to ¹UniProtKB, ²MINT, ³I2D, and/or ⁴STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
About This Section

Unified GeneCards pathways About this table

See pathways by source

Super-pathway

contained gene-specific pathways

Meiotic Synapsis

	Meiotic Synapsis	1.00			Meiosis	0.70
	Telomere clustering at the nuclear membrane	0.82			Chromosome Maintenance	0.56

Cell Cycle

Cell Cycle

1.00

Pathway sources
See GeneCards unified pathways
Show all pathways

5 Reactome Pathways for SYNE1

	Meiotic Synapsis
	Cell Cycle
	Meiosis
	Chromosome Maintenance
	Telomere clustering at the nuclear membrane

SYNE1 for pathways About GeneDecksing

Interactions:

SABiosciences Gene Network Central^TM Interacting Genes and Proteins Network for SYNE1

STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

5/206 Interacting proteins for SYNE1 (Q8NF91^{1, 2, 3} ENSP00000265368⁴) via UniProtKB, MINT, STRING, and/or I2D (see all 206)

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
DISC1	Q9NRI5¹^,³, ENSP00000355596⁴	EBI-928867,EBI-529989 I2D: score=3 STRING: ENSP00000355596
AGO2	Q9UKV8², ENSP00000220592⁴	MINT-6489539 MINT-6489355 STRING: ENSP00000220592
DHX30	Q7L2E3²	MINT-6489539 MINT-6489355 MINT-6488791
DHX9	Q08211²	MINT-6489539 MINT-6489355 MINT-6488791
EEF1A1	P68104²	MINT-6489539 MINT-6489355 MINT-6488791

About this table

Gene Ontology (GO): 5/7 biological process terms (GO ID links to tree view) (see all 7): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0006997	nucleus organization	NAS	11792814
GO:0007030	Golgi organization	IDA	12808039
GO:0008219	cell death	IEA	--
GO:0040023	establishment of nucleus localization	--	--
GO:0042692	muscle cell differentiation	IDA	11792814

SYNE1 for ontologies About GeneDecksing

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
About This Section

SYNE1 for compounds About GeneDecksing

Browse Small Molecules at EMD Millipore

Browse drugs & compounds from Enzo Life Sciences

Browse Tocris compounds for SYNE1
7 Novoseek chemical compound relationships for SYNE1 gene About this table

Compound	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
cmda	96.1	4	12771932 (1), 10680842 (1), 8840992 (1), 11059693 (1)
benzoic acid	62.8	2	8057284 (1), 8676345 (1)
glutamate	37.6	6	15541315 (3), 2257218 (1), 17092843 (1), 11401322 (1)
carbamate	37.2	1	17092843 (1)
phenol	34.5	3	15115406 (1), 9857097 (1), 8544182 (1)
methotrexate	25.3	17	8683248 (8), 15723260 (2), 18192538 (1)
leucovorin	22.9	5	15723260 (3), 8683248 (1)

Search CenterWatch for drugs/clinical trials and news about SYNE1

(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
RNAi Products from EMD Millipore,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
About This Section

REFSEQ mRNAs for SYNE1 gene (6 alternative transcripts):

NM_033071.3 NM_182961.3 NM_001099267.1 NM_001134379.1 NM_015293.2 NM_133650.2

Unigene Cluster for SYNE1:

Spectrin repeat containing, nuclear envelope 1

Hs.12967 [show with all ESTs]

Unigene Representative Sequence: NM_182961

18/41 Ensembl transcripts including schematic representations, and UCSC links where relevant (see all 41):

ENST00000367255(uc011eez.2 uc003qoq.4 uc003qou.4) ENST00000478916

ENST00000539504 ENST00000367257 ENST00000423061(uc003qor.4 uc003qot.4)

ENST00000367251 ENST00000460912 ENST00000347037 ENST00000409694 ENST00000367256

ENST00000354674 ENST00000536990 ENST00000472563 ENST00000476519 ENST00000490866

ENST00000545694 ENST00000489156(uc010kiy.1) ENST00000488376

miRNA Products:		OriGene 3'-UTR Clone (see all 4): SYNE1 Browse OriGene MicroRNA Expression Plasmids
		QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat SYNE1
		8/16 QIAGEN miScript miRNA Assays for microRNAs that regulate SYNE1 (see all 16):
		hsa-miR-548p hsa-miR-519d hsa-miR-20a hsa-miR-374b hsa-miR-106a hsa-miR-106b hsa-miR-374a hsa-miR-548g

		SwitchGear 3'UTR luciferase reporter plasmid: SYNE1 3' UTR sequence

Inhib. RNA Products:		Browse for Gene Knock-down Tools from EMD Millipore
		OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for SYNE1 (see all 4) OriGene shRNA RFP: SYNE1 Browse OriGene siRNA
		QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat SYNE1

Clone Products:		OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for SYNE1 (see all 6) OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for SYNE1 (see all 4) OriGene custom cloning services � gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
		GenScript: all cDNA clones in your preferred vector (see all 2): SYNE1 (NM_182961)
		DNA2.0 Custom Codon Optimized Gene Synthesis Service for SYNE1
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		SABiosciences RT² qPCR Primer Assay in human, mouse, rat SYNE1
		QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat SYNE1
		QIAGEN QuantiFast Probe-based Assays in human, mouse, rat SYNE1

Additional cDNA sequence:

AB018339.2 AB033088.1 AB051543.1 AF043290.2 AF444779.1 AF495910.1 AF535142.1 AK055440.1

AK057959.1 AK091651.1 AK094094.1 AK122691.1 AK123135.1 AK127076.1 AK304825.1 AK308717.1

AK310977.1 AK316101.1 AL713682.1 AL833657.1 AY061755.1 AY061756.1 AY135172.1 AY183142.1

AY184203.1 AY184206.1 BC028616.1 BC031033.1 BC039121.1 BC090927.1 BC150289.1 BX537837.1

BX647837.1 CR933676.1 FM162565.1 JQ740783.1 JQ740784.1 JQ740785.1 JQ740786.1 JQ754364.1

JQ754365.1 JQ754366.1

24/41 DOTS entries (see all 41):

DT.95305014 DT.100796444 DT.415982 DT.91970231 DT.95365386 DT.121384427 DT.100796446 DT.100796443

DT.100796448 DT.100796447 DT.101971045 DT.121384522 DT.301613 DT.40257350 DT.95266200 DT.101983786

DT.101957773 DT.101975033 DT.121384567 DT.102836940 DT.121384401 DT.97801470 DT.91746691 DT.100028312

24/336 AceView cDNA sequences (see all 336):

AY061756 BQ638402 NM_033071 AB018339 AK055440 BQ632462 AW297921 AA487952

AF444779 BM469820 BC031033 AL713682 AK127076 BM819715 BU726728 AA954756

CA432202 BI030790 AA694351 BM661964 AK094094 BI912462 AW299926 BC039121

GeneLoc Exon Structure

(RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section

SYNE1 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: --

About this image

SYNE1 expression in embryonic tissues and stem cells

Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine About this table

1 LifeMap In Vivo Development Anatomical Compartment/Cell

Tissue

Anatomical Compartment

Cell

Category (developmental path)

Brain

Blood Brain Barrier

Adult Endothelial Cells

Blood Brain Barrier, Endothelium

Expression:

Positive

Negative

Selective marker

Experimental details:

Curated

Microarrays

In-situ hybridization

See SYNE1 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for SYNE1

SOURCE GeneReport for Unigene cluster: Hs.12967

UniProtKB/Swiss-Prot: SYNE1_HUMAN, Q8NF91

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

SABiosciences Custom PCR Arrays for SYNE1

Primer Products:		OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for SYNE1 Browse OriGene validated miRNA SYBR primer pairs
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		QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat SYNE1
		QIAGEN QuantiFast Probe-based Assays in human, mouse, rat SYNE1

In Situ
Assay Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SYNE1

(Orthologs according to ^1,2HomoloGene (²older version, for species not in ¹newer version), ³euGenes, ⁴SGD , ⁵MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or ⁶Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
About This Section

This gene was present in the common ancestor of animals.

Orthologs for SYNE1 gene from 6/23 species (see all 23) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
chicken (Gallus gallus)	Aves	SYNE1¹	spectrin repeat containing, nuclear envelope 1	73.18(n) 73.79(a)		421640 XM_419679.3 XP_419679.3
lizard (Anolis carolinensis)	Reptilia	SYNE1⁶	--	72(a)	1 ↔ 1	GL343259.1(1615444-1910781)
African clawed frog (Xenopus laevis)	Amphibia	BC049289.1²	--	78.39(n)		BC049289.1
zebrafish (Danio rerio)	Actinopterygii	BI884847.1²	--	74.21(n)		BI884847.1
fruit fly (Drosophila melanogaster)	Insecta	Msp-300¹	Muscle-specific protein 300	38.36(n) 21.38(a)		3771968 NM_001201768.1 NP_001188697.1
worm (Caenorhabditis elegans)	Secernentea	anc-1¹	Protein ANC-1	38.72(n) 22.85(a)		172034 NM_058952.2 NP_491353.2

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

(Paralogs according to ¹HomoloGene,
²Ensembl, and ³SIMAP, Pseudogenes according to ⁴Pseudogene.org Build 68)
About This Section

Paralogs for SYNE1 gene

ACTN4² SPTBN2² SPTA1² SYNE2² SPTBN4² SPTBN1² SPTB² SPTBN5²

ACTN2² SPTAN1² ACTN1² CLMN²

18/43 SIMAP similar genes for SYNE1 using alignment to 27 protein entries: SYNE1_HUMAN (see all proteins) (see all similar genes):

DKFZp686M104 DKFZp686K0193 ORF DKFZp781J13156 ABCG5 DDX19A

FLJ00047 ATL2 HSpTB1 ADCK1 EEF1E1 MACF1

ADCY7 L3MBTL2 CLMN DKFZp686M09200 DKFZp686H1931 ETFA

SYNE1 for paralogs About GeneDecksing

(SNPs/Variants according to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
About This Section

SNP ID	Valid	Clinical significance	Chr 6 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs7750123^1,2	A	--	150004471(+)	`TTTTCC/TTTTAA`	2	--	ds500¹		0	--	--	--	--
rs74426520^1,2	F,	--	150005842(+)	`TTCTAC/TTCCTT`	2	--	int¹		1		WA	118
rs7760864^1,2	C,	--	150006477(+)	`AGATTC/TTGAGT`	2	--	int¹		2		WA	120
rs77765070^1,2	C,F,	--	150006843(+)	`GTGGGG/TGATGC`	2	--	int¹		4		WA CSA NA	242
rs79997465^1,2	F,	--	150007646(+)	`TAGAAC/GATAAA`	2	--	int¹		1		EA	120
rs75999342^1,2	C,F,	--	150008671(+)	`TAGTAC/TAATCT`	2	--	int¹		1		EA	120
rs9478293^1,2	C,F,H,	--	150009572(+)	`CAAATT/CTCCAG`	2	--	int¹		9		NS EA NA WA	1210
rs75970959^1,2	F,	--	150010120(+)	`AATGGC/TCCTTC`	2	--	int¹		1		WA	118
rs76047609^1,2		--	150010138(+)	`TGGTAC/TGGTTA`	2	--	int¹		1		WA	118
rs77638436^1,2	C,F,	--	150010562(+)	`CCTATC/TGGAGC`	2	--	int¹		1		WA	118

HapMap Linkage Disequilibrium report for SYNE1 (152442819 - 152692819 bp, first 250kb of SYNE1)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV): 2 variations for SYNE1
2 CNVs: 9551 69623
Human Gene Mutation Database (HGMD): SYNE1

Locus Specific Mutation Databases (LSDB): SYNE1

SABiosciences Cancer Mutation PCR Assays

QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing SYNE1

DNA2.0 Custom Variant and Variant Library Synthesis for SYNE1

(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
About This Section

SYNE1 for disorders           About GeneDecksing

OMIM gene information: 608441
OMIM disorders: 610743  612998
UniProtKB/Swiss-Prot: SYNE1_HUMAN, Q8NF91

Defects in SYNE1 are the cause of spinocerebellar ataxia autosomal recessive type 8 (SCAR8) [MIM:610743]; also

known as autosomal recessive cerebellar ataxia type 1 (ARCA1) or recessive ataxia of Beauce. 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

Defects in SYNE1 are the cause of Emery-Dreifuss muscular dystrophy type 4 (EDMD4) [MIM:612998]. 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

20/23 diseases for SYNE1 (see all 23): About MalaCards

autosomal recessive cerebellar ataxia type 1 spinocerebellar ataxia cerebellar ataxia emery-dreifuss muscular dystrophy

spinocerebellar ataxia, autosomal recessive 8 ataxia muscular dystrophy hypercementosis

alcohol dependence colon adenocarcinoma arthrogryposis balanitis

choriocarcinoma bipolar disorder colon carcinoma breast carcinoma

carcinoma adenocarcinoma alcoholism hepatocellular carcinoma

2 diseases from the University of Copenhagen DISEASES database for SYNE1:

Emery-Dreifuss muscular dystrophy Cerebellar ataxia

10/11 Novoseek disease relationships for SYNE1 gene (see all 11) About this table

Disease	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
colon carcinoma	50.2	2	12699387 (1), 8840992 (1)
colon adenocarcinoma	34.6	2	9225945 (1), 10699932 (1)
choriocarcinoma	31.8	1	1835849 (1)
tumors	24.3	30	10699932 (5), 18594008 (4), 17510425 (3), 2299634 (2) (see all 15)
breast carcinoma	17.5	2	10680842 (1), 16078849 (1)
colorectal carcinoma	14.1	2	10741695 (1), 17510425 (1)
cancer	5.34	3	19780183 (1), 17510425 (1)
renal failure	0	2	10609804 (1), 15723260 (1)
necrosis	0	1	10950140 (1)
adenocarcinoma	0	1	8840992 (1)

GeneTests: SYNE1

Human Genome Epidemiology (HuGE) Navigator: SYNE1 (5 documents)

Export disorders for SYNE1 gene to outside databases

(in PubMed. Associations of this gene to articles via ¹Entrez Gene, ²UniProtKB/Swiss-Prot, ³HGNC, ⁴GAD, ⁵PharmGKB, ⁶HMDB, ⁷DrugBank, ⁸UniProtKB/TrEMBL, ⁹ Novoseek, and/or ¹⁰fRNAdb)
About This Section

PubMed articles for SYNE1 gene, integrated from 9 sources (see all 118):
(articles sorted by number of sources associating them with SYNE1)

Utopia: connect your pdf to the dynamic
world of online information

Prediction of the coding sequences of unidentified human genes. XI. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro. (PubMed id 9872452)^{1, 2, 3} Nagase T.... Ohara O. (1998)
Enaptin, a giant actin-binding protein, is an element of the nuclear membrane and the actin cytoskeleton. (PubMed id 15093733)^{1, 2, 9} Padmakumar V.C....Korenbaum E. (2004)
Nesprin-1 and -2 are involved in the pathogenesis of Emery Dreifuss muscular dystrophy and are critical for nuclear envelope integrity. (PubMed id 17761684)^{1, 2, 9} Zhang Q.... Shanahan C.M. (2007)
Golgi localization of Syne-1. (PubMed id 12808039)^{1, 2, 9} Gough L.L.... Beck K.A. (2003)
Syne-1, a dystrophin- and Klarsicht-related protein a ssociated with synaptic nuclei at the neuromuscular junction. (PubMed id 10878022)^{1, 3, 9} Apel E.D....Sanes J.R. (2000)
The nesprins are giant actin-binding proteins, orthologous to Drosophila melanogaster muscle protein MSP-300. (PubMed id 12408964)^{1, 2, 9} Zhang Q.... Roberts R.G. (2002)
Nesprins: a novel family of spectrin-repeat-containing proteins that localize to the nuclear membrane in multiple tissues. (PubMed id 11792814)^{1, 2, 9} Zhang Q.... Shanahan C.M. (2001)
Structural requirements for the assembly of LINC complexes and their function in cellular mechanical stiffness. (PubMed id 18396275)^{1, 2, 9} Stewart-Hutchinson P.J.... Hodzic D. (2008)
Mutations in SYNE1 lead to a newly discovered form of autosomal recessive cerebellar ataxia. (PubMed id 17159980)^{1, 2} Gros-Louis F.... Rouleau G.A. (2007)
Global, in vivo, and site-specific phosphorylation dynamics in signaling networks. (PubMed id 17081983)^{1, 2} Olsen J.V....Mann M. (2006)

(in PubMed, OMIM, and NCBI Bookshelf)
About This Section

		AND	OR
Aliases
Disorders
Free Text

Query String		PubMed OMIM NCBI Bookshelf
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(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
About This Section

Entrez Gene: 23345	HGNC: 17089	AceView: SYNE1	Ensembl:ENSG00000131018	euGenes: HUgn23345
ECgene: SYNE1	H-InvDB: SYNE1

(According to HUGE)
About This Section

HUGE: KIAA0796 KIAA1756 KIAA1262

(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
About This Section

Name	Description
PharmGKB entry for SYNE1	Pharmacogenomics, SNPs, Pathways
GeneReviews	http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/SYNE1
Wikipedia	http://en.wikipedia.org/wiki/Enaptin

Intellectual Property for SYNE1 gene
(Patent information from GeneIP, Licensable technologies from WIS Yeda, Salk, Tufts, IP news from LifeMap Sciences, Inc.)

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Patent Information for SYNE1 gene:
Search GeneIP for patents involving SYNE1

GeneCards and IP:
Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search

(Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Uscn, Thermo Fisher Scientific, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or Enzo Life Sciences),
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SYNE1 Gene

spectrin repeat containing, nuclear envelope 1

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SYNE1 (Gene Symbol)
Spectrin Repeat Containing, Nuclear Envelope 1
C6orf98
MYNE1
SCAR8
KIAA0796
8B
ARCA1
CPG2
Nesp1
DJ45H2.2
Enaptin
Myocyte Nuclear Envelope Protein 1
Synaptic Nuclear Envelope Protein 1
EDMD4
KIAA1262
KIAA1756
Nesprin-1
SYNE-1B
Chromosome 6 Open Reading Frame 98
Nesprin 1
Nesprin-1
Nuclear Envelope Spectrin Repeat-1
Synaptic Nuclei Expressed Gene 1
Enaptin
Myne-1
Syne-1
Nuclear Envelope Spectrin Repeat Protein 1
EC 4.2.1.49
EC 4.3.1.3

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SYNE1 Gene

spectrin repeat containing, nuclear envelope 1

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