UniProtKB - Q8N205 (SYNE4_HUMAN)
Nesprin-4
SYNE4
Functioni
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 (By similarity).
Behaves as a kinesin cargo, providing a functional binding site for kinesin-1 at the nuclear envelope. Hence may contribute to the establishment of secretory epithelial morphology by promoting kinesin-dependent apical migration of the centrosome and Golgi apparatus and basal localization of the nucleus (By similarity).
By similarityGO - Biological processi
- establishment of epithelial cell apical/basal polarity Source: UniProtKB
Enzyme and pathway databases
PathwayCommonsi | Q8N205 |
SignaLinki | Q8N205 |
SIGNORi | Q8N205 |
Names & Taxonomyi
Protein namesi | Recommended name: Nesprin-4Alternative name(s): KASH domain-containing protein 4 Short name: KASH4 Nuclear envelope spectrin repeat protein 4 |
Gene namesi | Name:SYNE4 Synonyms:C19orf46 |
Organismi | Homo sapiens (Human) |
Taxonomic identifieri | 9606 [NCBI] |
Taxonomic lineagei | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Proteomesi |
|
Organism-specific databases
HGNCi | HGNC:26703, SYNE4 |
MIMi | 615535, gene |
neXtProti | NX_Q8N205 |
VEuPathDBi | HostDB:ENSG00000181392 |
Subcellular locationi
Nucleus
- Nucleus outer membrane 1 Publication; Single-pass type IV membrane protein 1 Publication
Note: Localization at the nucleus outer membrane requires the presence of SUN1.By similarity
Nucleus
- integral component of nuclear outer membrane Source: UniProtKB
- meiotic nuclear membrane microtubule tethering complex Source: InterPro
Topology
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Topological domaini | 1 – 355 | CytoplasmicPROSITE-ProRule annotationAdd BLAST | 355 | |
Transmembranei | 356 – 376 | Helical; Anchor for type IV membrane proteinPROSITE-ProRule annotationAdd BLAST | 21 | |
Topological domaini | 377 – 404 | Perinuclear spacePROSITE-ProRule annotationAdd BLAST | 28 |
Keywords - Cellular componenti
Membrane, NucleusPathology & Biotechi
Involvement in diseasei
Deafness, autosomal recessive, 76 (DFNB76)1 Publication
Keywords - Diseasei
Deafness, Non-syndromic deafnessOrganism-specific databases
DisGeNETi | 163183 |
MalaCardsi | SYNE4 |
MIMi | 615540, phenotype |
OpenTargetsi | ENSG00000181392 |
Orphaneti | 90636, Autosomal recessive non-syndromic sensorineural deafness type DFNB |
PharmGKBi | PA145149542 |
Miscellaneous databases
Pharosi | Q8N205, Tbio |
Genetic variation databases
BioMutai | SYNE4 |
DMDMi | 158706458 |
PTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
ChainiPRO_0000306264 | 1 – 404 | Nesprin-4Add BLAST | 404 |
Amino acid modifications
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Disulfide bondi | 381 | Interchain (with C-563 in SUN2); alternateBy similarity | ||
Disulfide bondi | 381 | Interchain (with C-657 in SUN1)By similarity |
Post-translational modificationi
Keywords - PTMi
Disulfide bondProteomic databases
EPDi | Q8N205 |
jPOSTi | Q8N205 |
MassIVEi | Q8N205 |
MaxQBi | Q8N205 |
PaxDbi | Q8N205 |
PeptideAtlasi | Q8N205 |
PRIDEi | Q8N205 |
ProteomicsDBi | 71647 [Q8N205-1] 71648 [Q8N205-2] |
PTM databases
iPTMneti | Q8N205 |
PhosphoSitePlusi | Q8N205 |
Expressioni
Gene expression databases
Bgeei | ENSG00000181392, Expressed in prostate gland and 135 other tissues |
ExpressionAtlasi | Q8N205, baseline and differential |
Genevisiblei | Q8N205, HS |
Organism-specific databases
HPAi | ENSG00000181392, Low tissue specificity |
Interactioni
Subunit structurei
Core component of LINC complexes which are composed of inner nuclear membrane SUN domain-containing proteins coupled to outer nuclear membrane KASH domain-containing nesprins. SUN and KASH domain-containing proteins seem to bind each other promiscuously; however, differentially expression of LINC complex constituents can give rise to specific assemblies (By similarity). Probably part of a SUN1-containing LINC complex.
Interacts with kinesins KIF5B and KLC1 (By similarity).
By similarityBinary interactionsi
Q8N205
Isoform 2 [Q8N205-2]
Protein-protein interaction databases
BioGRIDi | 127856, 98 interactors |
IntActi | Q8N205, 90 interactors |
MINTi | Q8N205 |
STRINGi | 9606.ENSP00000316130 |
Miscellaneous databases
RNActi | Q8N205, protein |
Structurei
Secondary structure
3D structure databases
SASBDBi | Q8N205 |
SMRi | Q8N205 |
ModBasei | Search... |
PDBe-KBi | Search... |
Family & Domainsi
Domains and Repeats
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Domaini | 347 – 404 | KASHPROSITE-ProRule annotationAdd BLAST | 58 |
Region
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Regioni | 1 – 91 | DisorderedSequence analysisAdd BLAST | 91 | |
Regioni | 277 – 347 | DisorderedSequence analysisAdd BLAST | 71 |
Compositional bias
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Compositional biasi | 36 – 55 | Polar residuesSequence analysisAdd BLAST | 20 | |
Compositional biasi | 290 – 309 | Basic and acidic residuesSequence analysisAdd BLAST | 20 |
Domaini
Sequence similaritiesi
Keywords - Domaini
Transmembrane, Transmembrane helixPhylogenomic databases
eggNOGi | ENOG502SZGW, Eukaryota |
GeneTreei | ENSGT00510000049061 |
HOGENOMi | CLU_034166_1_0_1 |
InParanoidi | Q8N205 |
OMAi | PQDMLMS |
OrthoDBi | 938875at2759 |
PhylomeDBi | Q8N205 |
Family and domain databases
InterProi | View protein in InterPro IPR012315, KASH IPR030268, SYNE4 |
PANTHERi | PTHR21640, PTHR21640, 1 hit |
Pfami | View protein in Pfam PF10541, KASH, 1 hit |
SMARTi | View protein in SMART SM01249, KASH, 1 hit |
PROSITEi | View protein in PROSITE PS51049, KASH, 1 hit |
s (2+)i Sequence
Sequence statusi: Complete.
This entry describes 2 produced by isoformsialternative splicing. AlignAdd to basketThis entry has 2 described isoforms and 3 potential isoforms that are computationally mapped.Show allAlign All
This isoform has been chosen as the sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry. canonicali
10 20 30 40 50
MALSLPLGPR LGSEPLNHPP GAPREADIVG CTVCPASGEE STSPEQAQTL
60 70 80 90 100
GQDSLGPPEH FQGGPRGNEP AAHPPRWSTP SSYEDPAGGK HCEHPISGLE
110 120 130 140 150
VLEAEQNSLH LCLLGLGRRL QDLEQGLGHW ALAQSGMVQL QALQVDLRGA
160 170 180 190 200
AERVEALLAF GEGLAQRSEP RAWAALEQIL RALGAYRDSI FRRLWQLQAQ
210 220 230 240 250
LVSYSLVFEE ANTLDQDLEV EGDSDWPGPG GVWGPWAPSS LPTSTELEWD
260 270 280 290 300
PAGDIGGLGP LGQKTARTLG VPCELCGQRG PQGRGQGLEE ADTSHSRQDM
310 320 330 340 350
LESGLGHQKR LARHQRHSLL RKPQDKKRQA SPHLQDVRLE GNPGAPDPAS
360 370 380 390 400
RQPLTFLLIL FLLFLLLVGA MFLLPASGGP CCSHARIPRT PYLVLSYVNG
LPPV
Computationally mapped potential isoform sequencesi
There are 3 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basketD6RAE3 | D6RAE3_HUMAN | Nesprin-4 | SYNE4 | 354 | Annotation score: | ||
H0Y9Z1 | H0Y9Z1_HUMAN | Nesprin-4 | SYNE4 | 151 | Annotation score: | ||
H9KVA3 | H9KVA3_HUMAN | Nesprin-4 | SYNE4 | 44 | Annotation score: |
Sequence cautioni
Natural variant
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_035284 | 224 | S → L. Corresponds to variant dbSNP:rs34818970Ensembl. | 1 | |
Natural variantiVAR_035285 | 278 | Q → H1 PublicationCorresponds to variant dbSNP:rs2285422EnsemblClinVar. | 1 |
Alternative sequence
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Alternative sequenceiVSP_028444 | 94 – 206 | Missing in isoform 2. 1 PublicationAdd BLAST | 113 |
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | AK093764 mRNA Translation: BAC04222.1 Sequence problems. AC002116 Genomic DNA No translation available. AF038458 Genomic DNA No translation available. BC052573 mRNA Translation: AAH52573.1 |
CCDSi | CCDS42553.1 [Q8N205-1] CCDS77285.1 [Q8N205-2] |
RefSeqi | NP_001034965.1, NM_001039876.2 [Q8N205-1] NP_001284664.1, NM_001297735.2 [Q8N205-2] |
Genome annotation databases
Ensembli | ENST00000324444; ENSP00000316130; ENSG00000181392 ENST00000340477; ENSP00000343152; ENSG00000181392 [Q8N205-2] |
GeneIDi | 163183 |
KEGGi | hsa:163183 |
MANE-Selecti | ENST00000324444.9; ENSP00000316130.3; NM_001039876.3; NP_001034965.1 |
UCSCi | uc002ocq.2, human [Q8N205-1] |
Keywords - Coding sequence diversityi
Alternative splicingSimilar proteinsi
Cross-referencesi
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | AK093764 mRNA Translation: BAC04222.1 Sequence problems. AC002116 Genomic DNA No translation available. AF038458 Genomic DNA No translation available. BC052573 mRNA Translation: AAH52573.1 |
CCDSi | CCDS42553.1 [Q8N205-1] CCDS77285.1 [Q8N205-2] |
RefSeqi | NP_001034965.1, NM_001039876.2 [Q8N205-1] NP_001284664.1, NM_001297735.2 [Q8N205-2] |
3D structure databases
Select the link destinations: PDBei RCSB PDBi PDBji Links Updated | PDB entry | Method | Resolution (Å) | Chain | Positions | PDBsum |
6R16 | X-ray | 2.75 | G/H/I/J/K/L | 376-404 | [»] | |
6WMD | X-ray | 1.50 | B | 377-404 | [»] | |
SASBDBi | Q8N205 | |||||
SMRi | Q8N205 | |||||
ModBasei | Search... | |||||
PDBe-KBi | Search... |
Protein-protein interaction databases
BioGRIDi | 127856, 98 interactors |
IntActi | Q8N205, 90 interactors |
MINTi | Q8N205 |
STRINGi | 9606.ENSP00000316130 |
PTM databases
iPTMneti | Q8N205 |
PhosphoSitePlusi | Q8N205 |
Genetic variation databases
BioMutai | SYNE4 |
DMDMi | 158706458 |
Proteomic databases
EPDi | Q8N205 |
jPOSTi | Q8N205 |
MassIVEi | Q8N205 |
MaxQBi | Q8N205 |
PaxDbi | Q8N205 |
PeptideAtlasi | Q8N205 |
PRIDEi | Q8N205 |
ProteomicsDBi | 71647 [Q8N205-1] 71648 [Q8N205-2] |
Protocols and materials databases
Antibodypediai | 34811, 102 antibodies from 18 providers |
DNASUi | 163183 |
Genome annotation databases
Ensembli | ENST00000324444; ENSP00000316130; ENSG00000181392 ENST00000340477; ENSP00000343152; ENSG00000181392 [Q8N205-2] |
GeneIDi | 163183 |
KEGGi | hsa:163183 |
MANE-Selecti | ENST00000324444.9; ENSP00000316130.3; NM_001039876.3; NP_001034965.1 |
UCSCi | uc002ocq.2, human [Q8N205-1] |
Organism-specific databases
CTDi | 163183 |
DisGeNETi | 163183 |
GeneCardsi | SYNE4 |
HGNCi | HGNC:26703, SYNE4 |
HPAi | ENSG00000181392, Low tissue specificity |
MalaCardsi | SYNE4 |
MIMi | 615535, gene 615540, phenotype |
neXtProti | NX_Q8N205 |
OpenTargetsi | ENSG00000181392 |
Orphaneti | 90636, Autosomal recessive non-syndromic sensorineural deafness type DFNB |
PharmGKBi | PA145149542 |
VEuPathDBi | HostDB:ENSG00000181392 |
GenAtlasi | Search... |
Phylogenomic databases
eggNOGi | ENOG502SZGW, Eukaryota |
GeneTreei | ENSGT00510000049061 |
HOGENOMi | CLU_034166_1_0_1 |
InParanoidi | Q8N205 |
OMAi | PQDMLMS |
OrthoDBi | 938875at2759 |
PhylomeDBi | Q8N205 |
Enzyme and pathway databases
PathwayCommonsi | Q8N205 |
SignaLinki | Q8N205 |
SIGNORi | Q8N205 |
Miscellaneous databases
BioGRID-ORCSi | 163183, 9 hits in 1040 CRISPR screens |
ChiTaRSi | SYNE4, human |
GenomeRNAii | 163183 |
Pharosi | Q8N205, Tbio |
PROi | PR:Q8N205 |
RNActi | Q8N205, protein |
SOURCEi | Search... |
Gene expression databases
Bgeei | ENSG00000181392, Expressed in prostate gland and 135 other tissues |
ExpressionAtlasi | Q8N205, baseline and differential |
Genevisiblei | Q8N205, HS |
Family and domain databases
InterProi | View protein in InterPro IPR012315, KASH IPR030268, SYNE4 |
PANTHERi | PTHR21640, PTHR21640, 1 hit |
Pfami | View protein in Pfam PF10541, KASH, 1 hit |
SMARTi | View protein in SMART SM01249, KASH, 1 hit |
PROSITEi | View protein in PROSITE PS51049, KASH, 1 hit |
MobiDBi | Search... |
Entry informationi
Entry namei | SYNE4_HUMAN | |
Accessioni | Q8N205Primary (citable) accession number: Q8N205 Secondary accession number(s): A8MRS0, A8MYE3, Q7Z7L3 | |
Entry historyi | Integrated into UniProtKB/Swiss-Prot: | October 2, 2007 |
Last sequence update: | October 2, 2007 | |
Last modified: | February 23, 2022 | |
This is version 140 of the entry and version 2 of the sequence. See complete history. | ||
Entry statusi | Reviewed (UniProtKB/Swiss-Prot) | |
Annotation program | Chordata Protein Annotation Program | |
Disclaimer | Any 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
3D-structure, Reference proteomeDocuments
- Human chromosome 19
Human chromosome 19: entries, gene names and cross-references to MIM - Human entries with genetic variants
List of human entries with genetic variants - Human variants curated from literature reports
Index of human variants curated from literature reports - MIM cross-references
Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot - PDB cross-references
Index of Protein Data Bank (PDB) cross-references - SIMILARITY comments
Index of protein domains and families