CleftGeneDB-Search

Gene: Syne3

Basic information

Tag	Content
Uniprot ID	Q4FZC9; Q8BMM1; Q8C117;
Entrez ID	212073
Genbank protein ID	AAH99694.1; BAC27012.1; BAC26351.1;
Genbank nucleotide ID	XM_006515654.3; XM_006515653.2; XM_006515652.3; NM_001042699.2; NM_172500.3;
Ensembl protein ID	ENSMUSP00000105553; ENSMUSP00000093090; ENSMUSP00000065771;
Ensembl nucleotide ID	ENSMUSG00000054150
Gene name	Nesprin-3
Gene symbol	Syne3
Organism	Mus musculus
NCBI taxa ID	10090
Cleft type
Developmental stage
Data sources	Homology search
Reference
Functional 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 (By similarity).
Sequence	MTQQPQEDFE RSVEDAQAWM KVIQEQLQVN DNTKGPRAAL EARLRETEKI CQLESEGMVK 60 VELVLRAAEA LLATCQEGQK PEILARLRDI KSQWEETVTY MTHCHSRIEW VWLHWSEYLL 120 AQDEFYRWFQ KMVVALEPPV ELQLGLKEKQ WQLSHAQVLL HNVDNQAVLL DRLLEEAGSL 180 FSRIGDPSVD EDAQKRMKAE YDAVKARAQR RVDLLAQVAQ DHEQYREDVN EFQLWLKAVV 240 EKVHSCLGRN CKLATELRLS TLQDIAKDFP RGEESLKRLE EQAVGVIQNT SPLGAEKISG 300 ELEEMRGVLE KLRVLWKEEE GRLRGLLQSR GDCEQQIQQL EAELGDFKKS LQRLAQEGLE 360 PTVKTATEDE LVAQWRLFSG TRAALASEEP RVDRLQTQLK KLVTFPDLQS LSDSVVATIQ 420 EYQSMKGKNT RLHNATRAEL WQRFQRPLND LQLWKALAQR LLDITASLPD LASIHTFLPQ 480 IEAALTESSR LKEQLAMLQL KTDLLGSIFG QERAATLLEQ VTSSVRDRDL LHNSLLQRKS 540 KLQSLLVQHK DFGVAFDPLN RKLLDLQARI QAEKGLPRDL PGKQVQLLRL QGLQEEGLDL 600 GTQIEAVRPL AHGNSKHQQK VDQISCDQQA LQRSLEDLVD RCQQNVREHC TFSHRLSELQ 660 LWITMATQTL ESHQGDVRLW DAESQEAGLE TLLSEIPEKE VQVSLLQALG QLVMKKSSPE 720 GATMVQEELR KLMESWQALR LLEENMLSLM RNQQLQRTEV DTGKKQVFTN NIPKAGFLIN 780 PQDPIPRRQH GANPLEGHDL PEDHPQLLRD FEQWLQAENS KLRRIITMRV ATAKDLRTRE 840 VKLQELEARI PEGQHLFENL LRLRPARDPS NELEDLRYRW MLYKSKLKDS GHLLTESSPG 900 ELTAFQKSRR QKRWSPCSLL QKACRVALPL QLLLLLFLLL LFLLPAGEEE RSCALANNFA 960 RSFALMLRYN GPPPT 975

Abbreviation :
CLO : cleft lip only. CPO : cleft palate only. CLP : cleft lip and palate. CL/P : cleft lip with/without cleft palate.
For humans: CL/P, CLO, CPO, and CLP. For mice: CLO, CLP, and CPO.

Protein structural annotations

3D structure in PDB database

There is no related protein structure for this gene.

Protein disorder information

Orthologous information

Relation	Gene symbol	Entrez ID	UniProt ID	Species	Evidence	Details
1:1 ortholog	SYNE3	520207	A0A3Q1MN88	Bos taurus	Prediction	More>>
1:1 ortholog	SYNE3		A0A452EF11	Capra hircus	Prediction	More>>
1:1 ortholog	SYNE3	161176	Q6ZMZ3	Homo sapiens	Publication	More>>
1:1 ortholog	Syne3	212073	Q4FZC9	Mus musculus	Prediction	More>>
1:1 ortholog	SYNE3		H2Q8V7	Pan troglodytes	Prediction	More>>
1:1 ortholog	Syne3		D3ZD24	Rattus norvegicus	Prediction	More>>
1:1 ortholog	syne3	100009645	X1WGA9	Danio rerio	Prediction	More>>

Other genetic variants/mutations

ID	Variant	Type	Disease	Chromosome\Coordinate	Evidence
rs225764808	p.Ala42Glu	missense variant	-	NC_000078.6:g.104975757G>T	UniProt
rs250096773	p.Met58Lys	missense variant	-	NC_000078.6:g.104969345A>T	UniProt
rs33184070	p.Met58Ile	missense variant	-	NC_000078.6:g.104969344C>G	UniProt
rs48707589	p.Met58Leu	missense variant	-	NC_000078.6:g.104969346T>A	UniProt
rs387448629	p.Ala135Thr	missense variant	-	NC_000078.6:g.104968106C>T	UniProt
rs246077403	p.Asp228Asn	missense variant	-	NC_000078.6:g.104963278C>T	UniProt
rs223536254	p.Lys242Asn	missense variant	-	NC_000078.6:g.104963234C>G	UniProt
rs251260722	p.Leu257Arg	missense variant	-	NC_000078.6:g.104963190A>C	UniProt
rs233561606	p.Arg258Cys	missense variant	-	NC_000078.6:g.104963188G>A	UniProt
rs220932439	p.Gln288Arg	missense variant	-	NC_000078.6:g.104961600T>C	UniProt
rs235355486	p.Arg324Gln	missense variant	-	NC_000078.6:g.104961492C>T	UniProt
rs226829764	p.Asp346Glu	missense variant	-	NC_000078.6:g.104961425G>C	UniProt
rs255224272	p.Lys348Arg	missense variant	-	NC_000078.6:g.104961420T>C	UniProt
rs236831668	p.Ser350Asn	missense variant	-	NC_000078.6:g.104961414C>T	UniProt
rs213268339	p.Leu359Met	missense variant	-	NC_000078.6:g.104961388A>T	UniProt
rs257505079	p.Pro577Leu	missense variant	-	NC_000078.6:g.104954206G>A	UniProt
rs230605088	p.Val646Ile	missense variant	-	NC_000078.6:g.104947026C>T	UniProt
rs33182674	p.Ser657Leu	missense variant	-	NC_000078.6:g.104946992G>A	UniProt
rs228985749	p.Arg678Cys	missense variant	-	NC_000078.6:g.104946930G>A	UniProt
rs33180831	p.Thr691Met	missense variant	-	NC_000078.6:g.104946737G>A	UniProt
rs29167927	p.Pro697Leu	missense variant	-	NC_000078.6:g.104946719G>A	UniProt
rs29163734	p.Thr723Ala	missense variant	-	NC_000078.6:g.104946642T>C	UniProt
rs29216358	p.Gln789Arg	missense variant	-	NC_000078.6:g.104945088T>C	UniProt
rs245938121	p.Glu802Gly	missense variant	-	NC_000078.6:g.104943432T>C	UniProt
rs33184598	p.Arg823His	missense variant	-	NC_000078.6:g.104943369C>T	UniProt
rs241144287	p.Arg837Lys	missense variant	-	NC_000078.6:g.104943327C>T	UniProt

Gene Ontology (GO)/biological pathways

GO:Molecular Function

GO ID	GO Term	Evidence
GO:0005515	protein binding	IPI
GO:0051015	actin filament binding	ISS
GO:0051015	actin filament binding	ISO
GO:0051015	actin filament binding	IBA

GO:Biological Process

GO ID	GO Term	Evidence
GO:0007010	cytoskeleton organization	ISS
GO:0007010	cytoskeleton organization	ISO
GO:0007097	nuclear migration	IBA
GO:0008360	regulation of cell shape	ISS
GO:0008360	regulation of cell shape	ISO
GO:0051647	nucleus localization	IBA
GO:0090150	establishment of protein localization to membrane	ISS
GO:0090150	establishment of protein localization to membrane	ISO
GO:0090286	cytoskeletal anchoring at nuclear membrane	ISO
GO:0090286	cytoskeletal anchoring at nuclear membrane	IBA

GO:Cellular Component

GO ID	GO Term	Evidence
GO:0005623	cell	IEA
GO:0005635	nuclear envelope	ISS
GO:0005635	nuclear envelope	ISO
GO:0005640	nuclear outer membrane	IDA
GO:0005640	nuclear outer membrane	IBA
GO:0005737	cytoplasm	IBA
GO:0005791	rough endoplasmic reticulum	IEA
GO:0016021	integral component of membrane	IEA
GO:0031965	nuclear membrane	ISO
GO:0034993	meiotic nuclear membrane microtubule tethering complex	ISO
GO:0034993	meiotic nuclear membrane microtubule tethering complex	IDA
GO:0034993	meiotic nuclear membrane microtubule tethering complex	IBA

Reactome Pathway

Reactome ID	Reactome Term	Evidence

Functional annotations

Keywords

Keyword ID	Keyword Term
KW-0025	Alternative splicing
KW-1015	Disulfide bond
KW-0256	Endoplasmic reticulum
KW-0472	Membrane
KW-0539	Nucleus
KW-1185	Reference proteome
KW-0677	Repeat
KW-0812	Transmembrane
KW-1133	Transmembrane helix

Interpro

InterPro ID	InterPro Term
IPR012315	KASH
IPR018159	Spectrin/alpha-actinin
IPR002017	Spectrin_repeat
IPR030267	SYNE3

PROSITE

PROSITE ID	PROSITE Term
PS51049	KASH

Pfam

Pfam ID	Pfam Term
PF10541	KASH
PF00435	Spectrin

Gene: Syne3

Basic information

Protein structural annotations

3D structure in PDB database

There is no related protein structure for this gene.

Protein disorder information

Orthologous information

Other genetic variants/mutations

Gene Ontology (GO)/biological pathways

GO:Molecular Function

GO:Biological Process

GO:Cellular Component

Reactome Pathway

Functional annotations

Keywords

Interpro

PROSITE

Pfam

Protein-miRNA interaction