SYNE1
Available structures
PDBOrtholog search: PDBe RCSB
Identifiers
AliasesSYNE1, 8B, ARCA1, C6orf98, CPG2, EDMD4, MYNE1, Nesp1, SCAR8, dJ45H2.2, spectrin repeat containing nuclear envelope protein 1, KASH1, AMCM, AMC3
External IDsOMIM: 608441 MGI: 1927152 HomoloGene: 52329 GeneCards: SYNE1
Orthologs
SpeciesHumanMouse
Entrez

23345

64009

Ensembl

ENSG00000131018

ENSMUSG00000096054

UniProt

Q8NF91

Q6ZWR6

RefSeq (mRNA)

NM_001079686
NM_022027
NM_153399
NM_001347711
NM_001347732

RefSeq (protein)

NP_001334630
NP_001334631
NP_149062
NP_892006

NP_001073154
NP_001334640
NP_001334661
NP_071310
NP_700448

Location (UCSC)Chr 6: 152.12 – 152.64 MbChr 10: 5.02 – 5.55 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

Enaptin also known as nesprin-1 or synaptic nuclear envelope protein 1 (syne-1) is an actin-binding protein that in humans that is encoded by the SYNE1 gene.[5]

Function

This gene encodes a spectrin repeat containing protein expressed in skeletal and smooth muscle, and peripheral blood lymphocytes, that localizes to the nuclear membrane.[5]

Enaptin is a nuclear envelope protein found in human myocytes and synapses, which is made up of 8,797 amino acids. Enaptin is involved in the maintenance of nuclear organization and structural integrity, tethering the cell nucleus to the cytoskeleton by interacting with the nuclear envelope and with F-actin in the cytoplasm.

Structure

Enaptin contains a coiled alpha-helical region and a large beta-sheet region in the upper part and at least four alpha-helices spliced together, indicating the similarity with collagen. The protein is made up of three main parts, as can be seen in the diagram: cytoplasmic (1-8746), anchor for type IV membrane protein (8747-8767), and the sequence for perinuclear space (8768-8797). The region in the perinuclear space contains a KASH domain.

The molecular weight of the mature protein is approximately 1,011 kDa, and it has a theoretical pI of 5.38.[6] The protein's chemical formula is C44189H71252N12428O14007S321. It has a theoretical Instability Index (II) of 51.63, indicating that it would be unstable in a test tube. The protein's in vivo half-life, the time it takes for half of the amount of protein in a cell to disappear after its synthesis in the cell, is predicted to be approximately 30 hours (in mammalian reticulocytes).[7]

Clinical significance

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.[5]

References

  1. 1 2 3 GRCh38: Ensembl release 89: ENSG00000131018 - Ensembl, May 2017
  2. 1 2 3 GRCm38: Ensembl release 89: ENSMUSG00000096054 - Ensembl, May 2017
  3. ↑ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. ↑ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. 1 2 3 "Entrez Gene: Spectrin repeat containing, nuclear envelope 1".
  6. ↑ "Compute pI/Mw for SYNE1_HUMAN (Q8NF91)". ExPASy. Swiss Institute of Bioinformatics.
  7. ↑ "ProtParam for SYNE1_HUMAN (Q8NF91)". ExPASy. Swiss Institute of Bioinformatics.

Further reading


This article incorporates text from the United States National Library of Medicine, which is in the public domain.

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