SYNE1

GENE INFORMATION

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Gene name

SYNE1 (HGNC Symbol)

Synonyms

8B, ARCA1, C6orf98, CPG2, dJ45H2.2, enaptin, KIAA0796, MYNE1, Nesp1, Nesprin-1, SCAR8, SYNE-1B

Description

Spectrin repeat containing, nuclear envelope 1 (HGNC Symbol)

Entrez gene summary

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]

Chromosome

6

Cytoband

q25.2

Chromosome location (bp)

152121684 - 152637801

Protein evidence

Evidence at protein level (all genes)

Ensembl

ENSG00000131018 (version 78.38)

Entrez gene

23345

UniProt

Q8NF91 (UniProt - Evidence at protein level)

neXtProt

NX_Q8NF91

Antibodypedia

SYNE1 antibodies
 

PROTEIN VIEW

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SYNE1-001
 
SYNE1-002
 
SYNE1-005
 
SYNE1-006
 
SYNE1-009
 
SYNE1-010
 
SYNE1-012
 
SYNE1-013
 
SYNE1-021
 
SYNE1-022
 
SYNE1-027
 
SYNE1-029
 
SYNE1-030
 
SYNE1-033
 
SYNE1-036
 
SYNE1-037
 
SYNE1-201
 
SYNE1-202
 
SYNE1-203
 
 » 
 
 
 
 

PROTEIN INFORMATION

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Splice variant

Ensembl

UniProt

Protein class

Gene ontology

Length
(aa)

Molecular mass
(kDa)

Signal peptide
(predicted)

Transmembrane regions
(predicted)

SYNE1-001 ENSP00000356224
ENST00000367255
Q8NF91
Show all »
Show » Show » 8797 1011.1 No 1
SYNE1-002 ENSP00000396024
ENST00000423061
Q8NF91
Show all »
Show » Show » 8749 1005.2 No 1
SYNE1-005 ENSP00000441052
ENST00000539504
Q5JV20
Show all »
Show » Show » 952 108.9 No 1
SYNE1-006 ENSP00000356220
ENST00000367251
H0Y325
Show all »
Show » Show » 1654 191.5 No 0
SYNE1-009 ENSP00000356217
ENST00000367248
F5GXQ8
Show all »
Show » Show » 1433 166.1 No 0
SYNE1-010 ENSP00000356222
ENST00000367253
Q8NF91
Show all »
Show » Show » 1725 199.3 No 0
SYNE1-012 ENSP00000390858
ENST00000454018
Q3ZCV0
Show all »
Show » Show » 510 58.6 No 0
SYNE1-013 ENSP00000442805
ENST00000469439
Show » 207 23.8 No 0
SYNE1-021 ENSP00000446021
ENST00000466159
F5H4Q0
Show all »
Show » Show » 754 87.4 No 0
SYNE1-022 ENSP00000438508
ENST00000495090
F5H422
Show all »
Show » 612 71.6 No 0
SYNE1-027 ENSP00000346701
ENST00000354674
F8WAI0
Show all »
Show » Show » 975 111.4 No 1
SYNE1-029 ENSP00000414510
ENST00000413186
Q8NF91
Show all »
Show » Show » 1443 167.2 No 0
SYNE1-030 ENSP00000441264
ENST00000537750
F5GYQ7
Show all »
Show » Show » 615 71.1 No 0
SYNE1-033 ENSP00000356226
ENST00000367257
H0Y326
Show all »
Show » Show » 1355 157.6 No 0
SYNE1-036 ENSP00000437411
ENST00000540663
F5H6R8
Show all »
Show » 242 26.9 No 0
SYNE1-037 ENSP00000443879
ENST00000537033
F5GZ83
Show all »
Show » 195 21.3 No 0
SYNE1-201 ENSP00000341887
ENST00000341594
Show » Show » 8392 964.8 No 1
SYNE1-202 ENSP00000390975
ENST00000448038
I6XXQ1
Show all »
Show » 380 43.1 No 0
SYNE1-203 ENSP00000481873
ENST00000610489
I6XKI8
Show all »
Show » Show » 477 54.7 No 0