Syne3 spectrin repeat containing, nuclear envelope family member 3 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Syne3provided by MGI
Official Full Name: spectrin repeat containing, nuclear envelope family member 3provided by MGI
Primary source: MGI:MGI:2442408
See related: Ensembl:ENSMUSG00000054150 AllianceGenome:MGI:2442408
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: KASH3; nesprin-3
Summary: Predicted to enable actin filament binding activity and cytoskeleton-nuclear membrane anchor activity. Predicted to be involved in several processes, including establishment of protein localization to membrane; nuclear migration; and regulation of cell shape. Located in nuclear outer membrane. Part of meiotic nuclear membrane microtubule tethering complex. Is expressed in several structures, including adipose tissue; alimentary system; genitourinary system; hemolymphoid system gland; and nervous system. Orthologous to human SYNE3 (spectrin repeat containing nuclear envelope family member 3). [provided by Alliance of Genome Resources, Apr 2022]
Expression: Broad expression in thymus adult (RPKM 4.9), mammary gland adult (RPKM 2.8) and 22 other tissues See more
Orthologs: human all
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Genomic context

Location:: 12 E; 12 54.97 cM

Exon count:: 22

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	12	NC_000078.7 (104896192..104976357, complement)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	12	NC_000078.6 (104929933..105010587, complement)

Chromosome 12 - NC_000078.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: Mouse ENCODE transcriptome data
Description: RNA profiling data sets generated by the Mouse ENCODE project.
BioProject: PRJNA66167
Publication: PMID 25409824
Analysis date: n/a

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Expression profile of SYNE3 and bioinformatic analysis of its prognostic value and functions in tumors.
Title: Expression profile of SYNE3 and bioinformatic analysis of its prognostic value and functions in tumors.
Nesprin-3 is critical for the localization of plectin to the nuclear perimeter of Sertoli cells.
Title: Nesprin-3 connects plectin and vimentin to the nuclear envelope of Sertoli cells but is not required for Sertoli cell function in spermatogenesis.
Data indicate roles for linkers of nucleus to cytoskeleton (LINC) molecules nesprin2giant and nesprin3, which anchor actin cap fibers to the nucleus.
Title: The LINC-anchored actin cap connects the extracellular milieu to the nucleus for ultrafast mechanotransduction.
Mouse nesprin-3alpha co-immunoprecipitated with torsinA and this involved the C-terminal region of torsinA and the KASH domain of nesprin-3alpha.
Title: TorsinA binds the KASH domain of nesprins and participates in linkage between nuclear envelope and cytoskeleton.
Data support a model in which the actin cytoskeleton influences the binding of plectin dimers to dimers of nesprin-3alpha, which in turn are retained at the nuclear envelope through an interaction with Sun proteins.
Title: Requirements for the localization of nesprin-3 at the nuclear envelope and its interaction with plectin.
plectin binds to the integrin alpha6beta4 at the cell surface and to nesprin-3 at the ONM in keratinocytes.
Title: Nesprin-3, a novel outer nuclear membrane protein, associates with the cytoskeletal linker protein plectin.

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Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Targeted (4) 1 citation
Endonuclease-mediated (1)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables actin filament binding	IBA Inferred from Biological aspect of Ancestor more info
enables actin filament binding	ISO Inferred from Sequence Orthology more info
enables cytoskeleton-nuclear membrane anchor activity	ISO Inferred from Sequence Orthology more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in cytoskeleton organization	ISO Inferred from Sequence Orthology more info
involved_in establishment of protein localization to membrane	ISO Inferred from Sequence Orthology more info
involved_in nuclear migration	IBA Inferred from Biological aspect of Ancestor more info
involved_in regulation of cell shape	ISO Inferred from Sequence Orthology more info

Component	Evidence Code	Pubs
is_active_in cytoplasm	IBA Inferred from Biological aspect of Ancestor more info
located_in endoplasmic reticulum	IEA Inferred from Electronic Annotation more info
part_of meiotic nuclear membrane microtubule tethering complex	IBA Inferred from Biological aspect of Ancestor more info
part_of meiotic nuclear membrane microtubule tethering complex	IDA Inferred from Direct Assay more info	PubMed
part_of meiotic nuclear membrane microtubule tethering complex	ISO Inferred from Sequence Orthology more info
located_in membrane	IEA Inferred from Electronic Annotation more info
located_in nuclear envelope	ISO Inferred from Sequence Orthology more info
located_in nuclear membrane	ISO Inferred from Sequence Orthology more info
is_active_in nuclear outer membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in nuclear outer membrane	IDA Inferred from Direct Assay more info	PubMed
located_in nucleus	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: nesprin-3

Names: KASH domain-containing protein 3; nuclear envelope spectrin repeat protein 3

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

NM_001042699.3 → NP_001036164.1 nesprin-3 isoform alpha

See identical proteins and their annotated locations for NP_001036164.1

Status: VALIDATED

Source sequence(s)

AC140477, AC147375

Consensus CDS

CCDS36542.1

UniProtKB/Swiss-Prot

Q4FZC9, Q8BMM1, Q8C117

Related

ENSMUSP00000093090.4, ENSMUST00000095439.11

Conserved Domains (3) summary

TIGR02168
Location:296 → 548

SMC_prok_B; chromosome segregation protein SMC, common bacterial type

pfam10541
Location:946 → 975

KASH; Nuclear envelope localization domain

cl02488
Location:572 → 742

SPEC; Spectrin repeats, found in several proteins involved in cytoskeletal structure; family members include spectrin, alpha-actinin and dystrophin; the spectrin repeat forms a three helix bundle with the second helix interrupted by proline in some sequences; ...
NM_001403458.1 → NP_001390387.1 nesprin-3 isoform alpha

Status: VALIDATED

Source sequence(s)

AC140477, AC147375

UniProtKB/Swiss-Prot

Q4FZC9, Q8BMM1, Q8C117
NM_172500.4 → NP_766088.2 nesprin-3 isoform beta

Status: VALIDATED

Source sequence(s)

AC140477, AC147375

Consensus CDS

CCDS36543.1

UniProtKB/Swiss-Prot

Q4FZC9

Related

ENSMUSP00000065771.4, ENSMUST00000067005.11

Conserved Domains (2) summary

pfam10541
Location:859 → 888

KASH; Nuclear envelope localization domain

cl02488
Location:485 → 655

SPEC; Spectrin repeats, found in several proteins involved in cytoskeletal structure; family members include spectrin, alpha-actinin and dystrophin; the spectrin repeat forms a three helix bundle with the second helix interrupted by proline in some sequences; ...

RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCm39 C57BL/6J

Genomic

NC_000078.7 Reference GRCm39 C57BL/6J

Range

104896192..104976357 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_006515653.4 → XP_006515716.1 nesprin-3 isoform X1

See identical proteins and their annotated locations for XP_006515716.1

UniProtKB/Swiss-Prot

Q4FZC9, Q8BMM1, Q8C117

Conserved Domains (3) summary

TIGR02168
Location:296 → 548

SMC_prok_B; chromosome segregation protein SMC, common bacterial type

pfam10541
Location:946 → 975

KASH; Nuclear envelope localization domain

cl02488
Location:572 → 742

SPEC; Spectrin repeats, found in several proteins involved in cytoskeletal structure; family members include spectrin, alpha-actinin and dystrophin; the spectrin repeat forms a three helix bundle with the second helix interrupted by proline in some sequences; ...
XM_006515654.5 → XP_006515717.1 nesprin-3 isoform X1

See identical proteins and their annotated locations for XP_006515717.1

UniProtKB/Swiss-Prot

Q4FZC9, Q8BMM1, Q8C117

Conserved Domains (3) summary

TIGR02168
Location:296 → 548

SMC_prok_B; chromosome segregation protein SMC, common bacterial type

pfam10541
Location:946 → 975

KASH; Nuclear envelope localization domain

cl02488
Location:572 → 742

SPEC; Spectrin repeats, found in several proteins involved in cytoskeletal structure; family members include spectrin, alpha-actinin and dystrophin; the spectrin repeat forms a three helix bundle with the second helix interrupted by proline in some sequences; ...