Human Gene SYNE3 (ENST00000334258.9_6) from GENCODE V47lift37
  Description: As a component of the LINC (LInker of Nucleoskeleton and Cytoskeleton) complex involved in the connection between the nuclear lamina and the cytoskeleton. The nucleocytoplasmic interactions established by the LINC complex play an important role in the transmission of mechanical forces across the nuclear envelope and in nuclear movement and positioning. Probable anchoring protein which tethers the nucleus to the cytoskeleton by binding PLEC which can associate with the intermediate filament system. Plays a role in the regulation of aortic epithelial cell morphology, and is required for flow-induced centrosome polarization and directional migration in aortic endothelial cells. (from UniProt Q6ZMZ3)
Gencode Transcript: ENST00000334258.9_6
Gencode Gene: ENSG00000176438.13_12
Transcript (Including UTRs)
   Position: hg19 chr14:95,883,831-95,942,173 Size: 58,343 Total Exon Count: 17 Strand: -
Coding Region
   Position: hg19 chr14:95,884,163-95,942,158 Size: 57,996 Coding Exon Count: 17 

Page IndexSequence and LinksUniProtKB CommentsPrimersCTDGene Alleles
RNA-Seq ExpressionRNA StructureProtein StructureOther SpeciesGO AnnotationsmRNA Descriptions
Other NamesModel InformationMethods
Data last updated at UCSC: 2024-08-22 23:36:26

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr14:95,883,831-95,942,173)mRNA (may differ from genome)Protein (975 aa)
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-  Comments and Description Text from UniProtKB
  ID: SYNE3_HUMAN
DESCRIPTION: RecName: Full=Nesprin-3; AltName: Full=Nuclear envelope spectrin repeat protein 3;
FUNCTION: 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. Involved in the maintenance of nuclear organization and structural integrity. Probable anchoring protein which tethers the nucleus to the cytoskeleton by binding PLEC which can associate with the intermediate filament system. Plays a role in the regulation of aortic epithelial cell morphology, and is required for flow- induced centrosome polarization and directional migration in aortic endothelial cells.
SUBUNIT: 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. Interacts with PLEC (via actin-binding domain). Interacts with DST (By similarity). Interacts with SYNE1 via spectrin repeats.
SUBCELLULAR LOCATION: Nucleus outer membrane; Single-pass type IV membrane protein. Nucleus envelope. Note=Localized uniformly throughout the nuclear envilope in aortic endothelial cells. Located at the rough reticulum endoplasmic (RER) in some cells.
TISSUE SPECIFICITY: Expressed in aortic endothelial cells (at protein level).
DOMAIN: The KASH domain is involved in the binding to SUN1 and SUN2 through recognition of their SUN domains.
SIMILARITY: Belongs to the nesprin family.
SIMILARITY: Contains 1 KASH domain.
SIMILARITY: Contains 2 spectrin repeats.
SEQUENCE CAUTION: Sequence=BAC05312.1; Type=Erroneous initiation; Note=Translation N-terminally extended; Sequence=BAD18582.1; Type=Erroneous initiation; Note=Translation N-terminally extended; Sequence=CAD62365.1; Type=Erroneous initiation; Note=Translation N-terminally shortened;

-  Primer design for this transcript
 

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-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene
  • C028473 N-acetyl-4-benzoquinoneimine

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 7.29 RPKM in Adipose - Subcutaneous
Total median expression: 70.23 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
3' UTR -95.40332-0.287 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR012315 - KASH
IPR018159 - Spectrin/alpha-actinin
IPR002017 - Spectrin_repeat

Pfam Domains:
PF00435 - Spectrin repeat
PF10541 - Nuclear envelope localisation domain

SCOP Domains:
47353 - Retrovirus capsid dimerization domain-like
46966 - Spectrin repeat

ModBase Predicted Comparative 3D Structure on Q6ZMZ3
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-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologNo orthologNo orthologNo orthologNo ortholog
Gene DetailsGene Details    
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-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0005515 protein binding
GO:0008092 cytoskeletal protein binding
GO:0051015 actin filament binding

Biological Process:
GO:0007010 cytoskeleton organization
GO:0008360 regulation of cell shape
GO:0090150 establishment of protein localization to membrane
GO:0090286 cytoskeletal anchoring at nuclear membrane

Cellular Component:
GO:0005634 nucleus
GO:0005635 nuclear envelope
GO:0005640 nuclear outer membrane
GO:0005783 endoplasmic reticulum
GO:0005791 rough endoplasmic reticulum
GO:0016020 membrane
GO:0016021 integral component of membrane
GO:0031965 nuclear membrane
GO:0034993 LINC complex


-  Descriptions from all associated GenBank mRNAs
  AK098471 - Homo sapiens cDNA FLJ25605 fis, clone JTH14272.
AK131436 - Homo sapiens cDNA FLJ16564 fis, clone SYNOV4005889.
JD110650 - Sequence 91674 from Patent EP1572962.
BC146604 - Homo sapiens chromosome 14 open reading frame 49, mRNA (cDNA clone MGC:150603 IMAGE:40123293), complete cds.
JD298373 - Sequence 279397 from Patent EP1572962.
JD327571 - Sequence 308595 from Patent EP1572962.
JD265606 - Sequence 246630 from Patent EP1572962.
JD196902 - Sequence 177926 from Patent EP1572962.
BX648302 - Homo sapiens mRNA; cDNA DKFZp686M07125 (from clone DKFZp686M07125).
BC061899 - Homo sapiens chromosome 14 open reading frame 49, mRNA (cDNA clone IMAGE:4372216), complete cds.
BX248076 - human full-length cDNA clone CS0DL002YK24 of B cells (Ramos cell line) of Homo sapiens (human).
JD104739 - Sequence 85763 from Patent EP1572962.
JD422978 - Sequence 404002 from Patent EP1572962.
JD492317 - Sequence 473341 from Patent EP1572962.
JD142501 - Sequence 123525 from Patent EP1572962.
JD462566 - Sequence 443590 from Patent EP1572962.
JD336753 - Sequence 317777 from Patent EP1572962.
JD518168 - Sequence 499192 from Patent EP1572962.
JD537820 - Sequence 518844 from Patent EP1572962.
JD540772 - Sequence 521796 from Patent EP1572962.

-  Other Names for This Gene
  Alternate Gene Symbols: A6H8H3, BC146604, C14orf139 , C14orf49 , ENST00000334258.1, ENST00000334258.2, ENST00000334258.3, ENST00000334258.4, ENST00000334258.5, ENST00000334258.6, ENST00000334258.7, ENST00000334258.8, LINC00341 , Q6ZMZ3, Q86SX5, Q8N7G8, SYNE3 , SYNE3_HUMAN, uc317txb.1
UCSC ID: ENST00000334258.9_6
RefSeq Accession: NM_152592.6
Protein: Q6ZMZ3 (aka SYNE3_HUMAN)

-  Gene Model Information
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-  Methods, Credits, and Use Restrictions
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