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Protein

Nesprin-3

Gene

SYNE3

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-Experimental evidence at protein leveli

Functioni

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.3 Publications

GO - Molecular functioni

  • actin filament binding Source: UniProtKB

GO - Biological processi

  • cytoskeletal anchoring at nuclear membrane Source: UniProtKB
  • cytoskeleton organization Source: UniProtKB
  • establishment of protein localization to membrane Source: UniProtKB
  • regulation of cell shape Source: UniProtKB
Complete GO annotation...

Names & Taxonomyi

Protein namesi
Recommended name:
Nesprin-3
Alternative name(s):
Nuclear envelope spectrin repeat protein 3
Gene namesi
Name:SYNE3
Synonyms:C14orf49
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 14

Organism-specific databases

HGNCiHGNC:19861. SYNE3.

Subcellular locationi

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Topological domaini1 – 925CytoplasmicPROSITE-ProRule annotationAdd BLAST925
Transmembranei926 – 946Helical; Anchor for type IV membrane proteinPROSITE-ProRule annotationAdd BLAST21
Topological domaini947 – 975Perinuclear spacePROSITE-ProRule annotationAdd BLAST29

GO - Cellular componenti

  • integral component of membrane Source: UniProtKB-KW
  • LINC complex Source: UniProtKB
  • membrane Source: UniProtKB
  • nuclear envelope Source: UniProtKB
  • nuclear outer membrane Source: UniProtKB-SubCell
  • rough endoplasmic reticulum Source: UniProtKB-SubCell
Complete GO annotation...

Keywords - Cellular componenti

Endoplasmic reticulum, Membrane, Nucleus

Pathology & Biotechi

Organism-specific databases

DisGeNETi161176.
OpenTargetsiENSG00000176438.
PharmGKBiPA134931380.

Polymorphism and mutation databases

BioMutaiSYNE3.
DMDMi134035037.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00002811201 – 975Nesprin-3Add BLAST975

Proteomic databases

EPDiQ6ZMZ3.
MaxQBiQ6ZMZ3.
PaxDbiQ6ZMZ3.
PeptideAtlasiQ6ZMZ3.
PRIDEiQ6ZMZ3.

PTM databases

iPTMnetiQ6ZMZ3.
PhosphoSitePlusiQ6ZMZ3.
SwissPalmiQ6ZMZ3.

Expressioni

Tissue specificityi

Expressed in aortic endothelial cells (at protein level).1 Publication

Gene expression databases

BgeeiENSG00000176438.
CleanExiHS_C14orf49.
ExpressionAtlasiQ6ZMZ3. baseline and differential.
GenevisibleiQ6ZMZ3. HS.

Organism-specific databases

HPAiHPA055227.

Interactioni

Subunit structurei

Core component of the LINC complex which is composed of inner nuclear membrane SUN domain-containing proteins coupled to outer nuclear membrane KASH domain-containing nesprins. SUN domain-containing proteins interact with A-type lamins of the nuclear lamina, while at the other end of the complex, nesprins interact with unique cytoskeletal components. Interacts with PLEC (via actin-binding domain). Interacts with DST. Interacts with SYNE1 via spectrin repeats. Interacts (via KASH domain) with TOR1A (ATP-bound); the interaction is required for SYNE3 nuclear envelope localization.3 Publications

Binary interactionsi

WithEntry#Exp.IntActNotes
Syne1Q6ZWR6-52EBI-10760907,EBI-10760805From a different organism.

GO - Molecular functioni

  • actin filament binding Source: UniProtKB

Protein-protein interaction databases

IntActiQ6ZMZ3. 1 interactor.
STRINGi9606.ENSP00000334308.

Structurei

3D structure databases

ProteinModelPortaliQ6ZMZ3.
SMRiQ6ZMZ3.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Repeati220 – 325Spectrin 1Add BLAST106
Repeati647 – 740Spectrin 2Add BLAST94
Domaini917 – 975KASHPROSITE-ProRule annotationAdd BLAST59

Coiled coil

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Coiled coili617 – 645Sequence analysisAdd BLAST29

Domaini

The KASH domain is involved in the binding to SUN1 and SUN2 through recognition of their SUN domains.1 Publication

Sequence similaritiesi

Belongs to the nesprin family.Curated
Contains 1 KASH domain.PROSITE-ProRule annotation
Contains 2 spectrin repeats.Curated

Keywords - Domaini

Coiled coil, Repeat, Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiKOG0516. Eukaryota.
COG5069. LUCA.
GeneTreeiENSGT00440000039367.
HOGENOMiHOG000154475.
HOVERGENiHBG094014.
InParanoidiQ6ZMZ3.
OMAiIKAQWEE.
OrthoDBiEOG091G01LN.
PhylomeDBiQ6ZMZ3.
TreeFamiTF331132.

Family and domain databases

InterProiIPR012315. KASH.
IPR018159. Spectrin/alpha-actinin.
IPR002017. Spectrin_repeat.
[Graphical view]
PfamiPF10541. KASH. 1 hit.
PF00435. Spectrin. 1 hit.
[Graphical view]
SMARTiSM01249. KASH. 1 hit.
SM00150. SPEC. 3 hits.
[Graphical view]
PROSITEiPS51049. KASH. 1 hit.
[Graphical view]

Sequences (3)i

Sequence statusi: Complete.

This entry describes 3 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: Q6ZMZ3-1) [UniParc]FASTAAdd to basket
Also known as: Alpha

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide

        10         20         30         40         50
MTQQPQDDFD RSVEDAQAWM KAVQDQLQVN DNTQGPRAAL EARLWETEKI
60 70 80 90 100
CQLEPEGRVR VDLVLRMAEA LLACCPGDQK PGILARLKDI KAQWEETVTY
110 120 130 140 150
MTHCHSRIEW VWLHWSEYLL ARDEFYRWFQ KMMVTLEPHI ELQLGLKEKQ
160 170 180 190 200
WQLSHAQVLL HNVDNQAVLL DRLLEEAASL FNRIGDPSVD EDAQKRMKAE
210 220 230 240 250
YDAVKAKAQK RVDLLEQVAR EHEEYQAGVD EFQLWLKAVV EKVNGCLGRN
260 270 280 290 300
CKLPITQRLS TLQDIAKDFP RGEESLETLE EQSAGVIRNT SPLGAEKITG
310 320 330 340 350
ELEEMRKVLE KLRALWEEEE ERLRGLLRSR GAWEQQIKQL EAELSEFRMV
360 370 380 390 400
LQRLAQEGLQ PAAKAGTEDE LVAHWRRYSA TRAALASEEP RVDRLQAQLK
410 420 430 440 450
ELIVFPHNLK PLSDSVIATI QEYQSLKVKS ARLRNAAAVE LWQHFQRPLQ
460 470 480 490 500
DLQLWKALAQ RLLEVTASLP DLPSLHTFLP QIEAALMESS RLKELLTMLQ
510 520 530 540 550
LKKDLLIGIF GQERATALLE QVAGSMRDRD LLHNSLLQRK SKLQSLLAQH
560 570 580 590 600
KDFGAAFEPL QRKLLDLQVR VQAEKGLQRD LPGKQAQLSR LQGLQEEGLD
610 620 630 640 650
LGAQMEAARP LVQENPNHQH KMDQLSSDFQ ALQRSLEDLV DRCRQSVQEH
660 670 680 690 700
CTFSHQLLEL RQWIVVTTQK LEAHRGEAGP GDAESQEAEF ERLVAEFPEK
710 720 730 740 750
EAQLSLVEAQ GWLVMEKSSP EGAAVVQEEL RELAESWRAL RLLEESLLSL
760 770 780 790 800
IRNWHLQRME VDSGKKMVFT NNIPKSGFLI NPMDPIPRHR RRANLLQEEE
810 820 830 840 850
GSHEDFSQLL RNFGQWLQVE NSKLVRIIAM RTSTAEDLRT RKSKLQELEA
860 870 880 890 900
RVPEGQHLFE NLLRLGPARG TSDELEDLRY QWMLYKSKLK DSGHLLTQSS
910 920 930 940 950
PGEPTGFQKT RRWRGLGSLF RRACCVALPL QLLLLLFLLL LFLLPIREED
960 970
RSCTLANNFA RSFTLMLRYN GPPPT
Length:975
Mass (Da):112,216
Last modified:March 20, 2007 - v2
Checksum:iA409AF86E1E781F4
GO
Isoform 2 (identifier: Q6ZMZ3-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     793-797: Missing.

Note: No experimental confirmation available.
Show »
Length:970
Mass (Da):111,677
Checksum:i1A0FB44FD60A578D
GO
Isoform 3 (identifier: Q6ZMZ3-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     593-596: GLQE → VRGL
     597-975: Missing.

Show »
Length:596
Mass (Da):68,582
Checksum:i093499D5CF2671F4
GO

Sequence cautioni

The sequence BAC05312 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.Curated
The sequence BAD18582 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.Curated
The sequence CAD62365 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened.Curated

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_031231668T → M.2 PublicationsCorresponds to variant rs9671369dbSNPEnsembl.1
Natural variantiVAR_068433795Missing .1 PublicationCorresponds to variant rs76499929dbSNPEnsembl.1
Natural variantiVAR_031232864R → H.Corresponds to variant rs17092216dbSNPEnsembl.1
Natural variantiVAR_031233923A → V.1 PublicationCorresponds to variant rs12434757dbSNPEnsembl.1
Natural variantiVAR_031234946I → V.Corresponds to variant rs10130647dbSNPEnsembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_023976593 – 596GLQE → VRGL in isoform 3. 1 Publication4
Alternative sequenceiVSP_023977597 – 975Missing in isoform 3. 1 PublicationAdd BLAST379
Alternative sequenceiVSP_023978793 – 797Missing in isoform 2. 1 Publication5

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
BX248076 mRNA. Translation: CAD62365.1. Different initiation.
AL138539 Genomic DNA. No translation available.
BC146604 mRNA. Translation: AAI46605.1.
AK098471 mRNA. Translation: BAC05312.1. Different initiation.
AK131436 mRNA. Translation: BAD18582.1. Different initiation.
CCDSiCCDS9935.1. [Q6ZMZ3-1]
RefSeqiNP_689805.3. NM_152592.3. [Q6ZMZ3-1]
XP_005267434.1. XM_005267377.3. [Q6ZMZ3-1]
XP_006720126.1. XM_006720063.3. [Q6ZMZ3-1]
XP_016876545.1. XM_017021056.1. [Q6ZMZ3-2]
UniGeneiHs.354645.

Genome annotation databases

EnsembliENST00000334258; ENSP00000334308; ENSG00000176438. [Q6ZMZ3-1]
ENST00000553340; ENSP00000450774; ENSG00000176438. [Q6ZMZ3-3]
ENST00000557275; ENSP00000450562; ENSG00000176438. [Q6ZMZ3-2]
GeneIDi161176.
KEGGihsa:161176.
UCSCiuc001yei.4. human. [Q6ZMZ3-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
BX248076 mRNA. Translation: CAD62365.1. Different initiation.
AL138539 Genomic DNA. No translation available.
BC146604 mRNA. Translation: AAI46605.1.
AK098471 mRNA. Translation: BAC05312.1. Different initiation.
AK131436 mRNA. Translation: BAD18582.1. Different initiation.
CCDSiCCDS9935.1. [Q6ZMZ3-1]
RefSeqiNP_689805.3. NM_152592.3. [Q6ZMZ3-1]
XP_005267434.1. XM_005267377.3. [Q6ZMZ3-1]
XP_006720126.1. XM_006720063.3. [Q6ZMZ3-1]
XP_016876545.1. XM_017021056.1. [Q6ZMZ3-2]
UniGeneiHs.354645.

3D structure databases

ProteinModelPortaliQ6ZMZ3.
SMRiQ6ZMZ3.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

IntActiQ6ZMZ3. 1 interactor.
STRINGi9606.ENSP00000334308.

PTM databases

iPTMnetiQ6ZMZ3.
PhosphoSitePlusiQ6ZMZ3.
SwissPalmiQ6ZMZ3.

Polymorphism and mutation databases

BioMutaiSYNE3.
DMDMi134035037.

Proteomic databases

EPDiQ6ZMZ3.
MaxQBiQ6ZMZ3.
PaxDbiQ6ZMZ3.
PeptideAtlasiQ6ZMZ3.
PRIDEiQ6ZMZ3.

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000334258; ENSP00000334308; ENSG00000176438. [Q6ZMZ3-1]
ENST00000553340; ENSP00000450774; ENSG00000176438. [Q6ZMZ3-3]
ENST00000557275; ENSP00000450562; ENSG00000176438. [Q6ZMZ3-2]
GeneIDi161176.
KEGGihsa:161176.
UCSCiuc001yei.4. human. [Q6ZMZ3-1]

Organism-specific databases

CTDi161176.
DisGeNETi161176.
GeneCardsiSYNE3.
H-InvDBHIX0011939.
HGNCiHGNC:19861. SYNE3.
HPAiHPA055227.
MIMi610861. gene.
neXtProtiNX_Q6ZMZ3.
OpenTargetsiENSG00000176438.
PharmGKBiPA134931380.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG0516. Eukaryota.
COG5069. LUCA.
GeneTreeiENSGT00440000039367.
HOGENOMiHOG000154475.
HOVERGENiHBG094014.
InParanoidiQ6ZMZ3.
OMAiIKAQWEE.
OrthoDBiEOG091G01LN.
PhylomeDBiQ6ZMZ3.
TreeFamiTF331132.

Miscellaneous databases

GenomeRNAii161176.
PROiQ6ZMZ3.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000176438.
CleanExiHS_C14orf49.
ExpressionAtlasiQ6ZMZ3. baseline and differential.
GenevisibleiQ6ZMZ3. HS.

Family and domain databases

InterProiIPR012315. KASH.
IPR018159. Spectrin/alpha-actinin.
IPR002017. Spectrin_repeat.
[Graphical view]
PfamiPF10541. KASH. 1 hit.
PF00435. Spectrin. 1 hit.
[Graphical view]
SMARTiSM01249. KASH. 1 hit.
SM00150. SPEC. 3 hits.
[Graphical view]
PROSITEiPS51049. KASH. 1 hit.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiSYNE3_HUMAN
AccessioniPrimary (citable) accession number: Q6ZMZ3
Secondary accession number(s): A6H8H3, Q86SX5, Q8N7G8
Entry historyi
Integrated into UniProtKB/Swiss-Prot: March 20, 2007
Last sequence update: March 20, 2007
Last modified: November 2, 2016
This is version 113 of the entry and version 2 of the sequence. [Complete history]
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 14
    Human chromosome 14: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. SIMILARITY comments
    Index of protein domains and families

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.