QuickView for SYNE1;jsessionid=536115C840AA5C31662091C03A8BA5ED (gene)

Gene Symbol:

SYNE1 Homo sapiens

Full name:

spectrin repeat containing nuclear envelope protein 1

Synonyms:

8B, ARCA1, C6orf98, CPG2, EDMD4, KASH1, MYNE1, Nesp1, SCAR8, dJ45H2.2, nesprin-1, CPG2 full length, KASH domain-containing protein 1, enaptin, myocyte nuclear envelope protein 1, nesprin 1, spectrin repeat containing, nuclear envelope 1, synaptic nuclear envelope protein 1, synaptic nuclei expressed gene 1

Genomic Location:

Chr 6: 152484515-153000227

Description:

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 ...

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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.

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Orthologs:

Mus musculus ,  Rattus norvegicus ,  D. melanogaster ,  C. elegans ,  Macaca mulatta ,  Gallus gallus ,  Pan troglodytes ,  Canis lupus familiaris ,  Danio rerio ,  Bos taurus

External Links:

Entrez Gene

Transcription Factor
Binding Sites:

STAT1_02 ,  TGAATGT_MIR181A_MIR181B_MIR181C_MIR181D ,  YTATTTTNR_MEF2_02 ,  GCANCTGNY_MYOD_Q6 ,  ATGTACA_MIR493 ,  STAT1_03 ,  GATA1_04 ,  OSF2_Q6 ,  GGGAGGRR_MAZ_Q6 ,  TATAAA_TATA_01 ,  GGGYGTGNY_UNKNOWN ,  CAGGTG_E12_Q6 ,  GGGCGGR_SP1_Q6 ,  RORA1_01 ,  GGCACTT_MIR519E ,  RORA2_01 ,  TGGTGCT_MIR29A_MIR29B_MIR29C ,  AGGCACT_MIR5153P ,  AACTTT_UNKNOWN ,  CRX_Q4 ,  TGCTGCT_MIR15A_MIR16_MIR15B_MIR195_MIR424_MIR497 ,  TATTATA_MIR374 ,  LMO2COM_01

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miRNA binding sites
(Source: TargetScan):

Predicted Gene Targets for miR-15 ,  Predicted Gene Targets for miR-181 ,  Predicted Gene Targets for miR-23 ,  Predicted Gene Targets for miR-369-3p ,  Predicted Gene Targets for miR-29 ,  Predicted Gene Targets for miR-374 ,  Predicted Gene Targets for miR-493-5p ,  Predicted Gene Targets for miR-543

Cytogenetic Map:

6q25.2

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