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Entry version 134 (07 Oct 2020)
Sequence version 2 (02 Oct 2007)
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Protein

Nesprin-4

Gene

SYNE4

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score:

Annotation score:5 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
-Experimental evidence at protein leveli <p>This indicates the type of evidence that supports the existence of the protein. Note that the 'protein existence' evidence does not give information on the accuracy or correctness of the sequence(s) displayed.<p><a href='/help/protein_existence' target='_top'>More...</a></p>

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>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 similarity

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Biological processi

Enzyme and pathway databases

Pathway Commons web resource for biological pathway data

More...
PathwayCommonsi
Q8N205

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>Protein namesi
Recommended name:
Nesprin-4
Alternative name(s):
KASH domain-containing protein 4
Short name:
KASH4
Nuclear envelope spectrin repeat protein 4
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: 'Name', 'Synonyms', 'Ordered locus names' and 'ORF names'.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi
Name:SYNE4
Synonyms:C19orf46
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the 'taxonomic identifier' or 'taxid'.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes%5Fmanual">proteome</a> can consist of several components.<br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome 19

Organism-specific databases

Eukaryotic Pathogen Database Resources

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EuPathDBi
HostDB:ENSG00000181392.14

Human Gene Nomenclature Database

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HGNCi
HGNC:26703, SYNE4

Online Mendelian Inheritance in Man (OMIM)

More...
MIMi
615535, gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_Q8N205

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte & Seán O’Donoghue; Source: COMPARTMENTS

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/subcellular%5Flocation%5Fsection">'Subcellular location'</a> section describes the subcellular compartment where each non-membrane region of a membrane-spanning protein is found.<p><a href='/help/topo_dom' target='_top'>More...</a></p>Topological domaini1 – 355CytoplasmicPROSITE-ProRule annotationAdd BLAST355
<p>This subsection of the <a href="http://www.uniprot.org/help/subcellular%5Flocation%5Fsection">'Subcellular location'</a> section describes the extent of a membrane-spanning region of the protein. It denotes the presence of both alpha-helical transmembrane regions and the membrane spanning regions of beta-barrel transmembrane proteins.<p><a href='/help/transmem' target='_top'>More...</a></p>Transmembranei356 – 376Helical; Anchor for type IV membrane proteinPROSITE-ProRule annotationAdd BLAST21
Topological domaini377 – 404Perinuclear spacePROSITE-ProRule annotationAdd BLAST28

<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywords - Cellular componenti

Membrane, Nucleus

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

<p>This subsection of the 'Pathology and Biotech' section provides information on the disease(s) associated with genetic variations in a given protein. The information is extracted from the scientific literature and diseases that are also described in the <a href="http://www.ncbi.nlm.nih.gov/sites/entrez?db=omim">OMIM</a> database are represented with a <a href="http://www.uniprot.org/diseases">controlled vocabulary</a> in the following way:<p><a href='/help/involvement_in_disease' target='_top'>More...</a></p>Involvement in diseasei

Deafness, autosomal recessive, 76 (DFNB76)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA form of non-syndromic sensorineural deafness, a disorder resulting from damage to the neural receptors of the inner ear, the nerve pathways to the brain, or the area of the brain that receives sound information. DFNB76 affected individuals have onset of progressive high frequency hearing impairment between birth and 6 years of age. The hearing loss is severe at high frequencies by adulthood.
Related information in OMIM

Keywords - Diseasei

Deafness, Non-syndromic deafness

Organism-specific databases

DisGeNET

More...
DisGeNETi
163183

MalaCards human disease database

More...
MalaCardsi
SYNE4
MIMi615540, phenotype

Open Targets

More...
OpenTargetsi
ENSG00000181392

Orphanet; a database dedicated to information on rare diseases and orphan drugs

More...
Orphaneti
90636, Autosomal recessive non-syndromic sensorineural deafness type DFNB

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...
PharmGKBi
PA145149542

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...
Pharosi
Q8N205, Tdark

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
SYNE4

Domain mapping of disease mutations (DMDM)

More...
DMDMi
158706458

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'PTM / Processing' section describes the extent of a polypeptide chain in the mature protein following processing or proteolytic cleavage.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00003062641 – 404Nesprin-4Add BLAST404

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the PTM / Processing":/help/ptm_processing_section section describes the positions of cysteine residues participating in disulfide bonds.<p><a href='/help/disulfid' target='_top'>More...</a></p>Disulfide bondi381Interchain (with C-563 in SUN2); alternateBy similarity
Disulfide bondi381Interchain (with C-657 in SUN1)By similarity

<p>This subsection of the <a href="http://www.uniprot.org/help/ptm%5Fprocessing%5Fsection">PTM/processing</a> section describes post-translational modifications (PTMs). This subsection <strong>complements</strong> the information provided at the sequence level or describes modifications for which <strong>position-specific data is not yet available</strong>.<p><a href='/help/post-translational_modification' target='_top'>More...</a></p>Post-translational modificationi

The disulfid bond with SUN1 or SUN2 is required for stability of the respective LINC complex under tensile forces.By similarity

Keywords - PTMi

Disulfide bond

Proteomic databases

Encyclopedia of Proteome Dynamics

More...
EPDi
Q8N205

jPOST - Japan Proteome Standard Repository/Database

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jPOSTi
Q8N205

MassIVE - Mass Spectrometry Interactive Virtual Environment

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MassIVEi
Q8N205

MaxQB - The MaxQuant DataBase

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MaxQBi
Q8N205

PaxDb, a database of protein abundance averages across all three domains of life

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PaxDbi
Q8N205

PeptideAtlas

More...
PeptideAtlasi
Q8N205

PRoteomics IDEntifications database

More...
PRIDEi
Q8N205

ProteomicsDB: a multi-organism proteome resource

More...
ProteomicsDBi
71647 [Q8N205-1]
71648 [Q8N205-2]

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...
iPTMneti
Q8N205

Comprehensive resource for the study of protein post-translational modifications (PTMs) in human, mouse and rat.

More...
PhosphoSitePlusi
Q8N205

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...
Bgeei
ENSG00000181392, Expressed in prostate gland and 135 other tissues

ExpressionAtlas, Differential and Baseline Expression

More...
ExpressionAtlasi
Q8N205, baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...
Genevisiblei
Q8N205, HS

Organism-specific databases

Human Protein Atlas

More...
HPAi
ENSG00000181392, Low tissue specificity

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

<p>This subsection of the <a href="http://www.uniprot.org/help/interaction%5Fsection">'Interaction'</a> section provides information about the protein quaternary structure and interaction(s) with other proteins or protein complexes (with the exception of physiological receptor-ligand interactions which are annotated in the <a href="http://www.uniprot.org/help/function%5Fsection">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>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 similarity

<p>This subsection of the '<a href="http://www.uniprot.org/help/interaction%5Fsection">Interaction</a>' section provides information about binary protein-protein interactions. The data presented in this section are a quality-filtered subset of binary interactions automatically derived from the <a href="https://www.ebi.ac.uk/intact/">IntAct database</a>. It is updated at every <a href="http://www.uniprot.org/help/synchronization">UniProt release</a>.<p><a href='/help/binary_interactions' target='_top'>More...</a></p>Binary interactionsi

Q8N205
With#Exp.IntAct
ABT1 [Q9ULW3]3EBI-7131783,EBI-2602396
ADIPOQ [A8K660]3EBI-7131783,EBI-10174479
BRICD5 [Q6PL45]3EBI-7131783,EBI-10254180
CD47 [Q08722]3EBI-7131783,EBI-1268321
CEP19 [Q96LK0]3EBI-7131783,EBI-741885
CLDN7 [O95471]3EBI-7131783,EBI-740744
CLDN8 [P56748]3EBI-7131783,EBI-10215641
CLEC7A [Q9BXN2]7EBI-7131783,EBI-3939278
CMTM5 [Q96DZ9]3EBI-7131783,EBI-2548702
CSGALNACT2 [Q8N6G5]3EBI-7131783,EBI-10267100
CXCL9 [Q07325]3EBI-7131783,EBI-3911467
DEFB121 [Q5J5C9]3EBI-7131783,EBI-10244198
ECE2 [O60344]3EBI-7131783,EBI-3906484
EDDM3B [P56851]3EBI-7131783,EBI-10215665
EMP1 [P54849]3EBI-7131783,EBI-4319440
ENTPD3 [O75355]3EBI-7131783,EBI-10187968
FAM241B [Q96D05]3EBI-7131783,EBI-2548784
FATE1 [Q969F0]5EBI-7131783,EBI-743099
ITM2B [Q9Y287]3EBI-7131783,EBI-2866431
KLC4 [Q9NSK0]3EBI-7131783,EBI-949319
KLHL12 [Q53G59]3EBI-7131783,EBI-740929
KLRG1 [Q96E93]3EBI-7131783,EBI-750770
KTN1 [Q86UP2]3EBI-7131783,EBI-359761
MALL [Q13021]3EBI-7131783,EBI-750078
MARCHF2 [Q9P0N8]3EBI-7131783,EBI-10317612
OCLN [Q16625]3EBI-7131783,EBI-2903088
OLFM4 [Q6UX06]3EBI-7131783,EBI-2804156
OSTCL [Q8TBU1]3EBI-7131783,EBI-10273677
PAQR5 [Q9NXK6]3EBI-7131783,EBI-10316423
RIPPLY2 [Q5TAB7]3EBI-7131783,EBI-10246897
SEC22A [Q96IW7]3EBI-7131783,EBI-8652744
SEC23B [Q15437]3EBI-7131783,EBI-742673
SENP2 [Q9HC62]3EBI-7131783,EBI-714881
SFTPC [P11686]3EBI-7131783,EBI-10197617
SLN [O00631]3EBI-7131783,EBI-10180786
SMCO4 [Q9NRQ5]3EBI-7131783,EBI-8640191
TMEM115 [Q12893]3EBI-7131783,EBI-8633987
TMEM140 [Q9NV12]3EBI-7131783,EBI-2844246
TMEM147 [Q9BVK8]3EBI-7131783,EBI-348587
TMEM182 [Q6ZP80]3EBI-7131783,EBI-10255122
TMEM248 [Q9NWD8]3EBI-7131783,EBI-10314986
TMPRSS4 - isoform 3 [Q9NRS4-3]3EBI-7131783,EBI-10312990
TRIM69 [Q86WT6]3EBI-7131783,EBI-749955
TSPAN15 [O95858]3EBI-7131783,EBI-7361096
TTMP [Q5BVD1]3EBI-7131783,EBI-10243654
VTI1B [Q9UEU0]4EBI-7131783,EBI-723716
ZNF250 - isoform 3 [P15622-3]3EBI-7131783,EBI-10177272
Isoform 2 [Q8N205-2]
With#Exp.IntAct
ADIPOQ [Q15848]6EBI-12099160,EBI-10827839
CEP19 [Q96LK0]3EBI-12099160,EBI-741885
CLDN19 - isoform 2 [Q8N6F1-2]3EBI-12099160,EBI-12256978
CSGALNACT2 [A0A0S2Z5K4]3EBI-12099160,EBI-16434756
IGFBP5 [P24593]3EBI-12099160,EBI-720480
MALL [Q13021]3EBI-12099160,EBI-750078
PLPP6 [Q8IY26]3EBI-12099160,EBI-11721828
SFTPC [P11686]4EBI-12099160,EBI-10197617
SMCO4 [Q9NRQ5]3EBI-12099160,EBI-8640191
TCEA2 [Q15560]3EBI-12099160,EBI-710310
ZNF648 [Q5T619]3EBI-12099160,EBI-11985915

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGRID)

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BioGRIDi
127856, 98 interactors

Protein interaction database and analysis system

More...
IntActi
Q8N205, 89 interactors

Molecular INTeraction database

More...
MINTi
Q8N205

STRING: functional protein association networks

More...
STRINGi
9606.ENSP00000316130

Miscellaneous databases

RNAct, Protein-RNA interaction predictions for model organisms.

More...
RNActi
Q8N205, protein

<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei

3D structure databases

SWISS-MODEL Repository - a database of annotated 3D protein structure models

More...
SMRi
Q8N205

Database of comparative protein structure models

More...
ModBasei
Search...

Protein Data Bank in Europe - Knowledge Base

More...
PDBe-KBi
Search...

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/family%5Fand%5Fdomains%5Fsection">Family and Domains</a> section describes the position and type of a domain, which is defined as a specific combination of secondary structures organized into a characteristic three-dimensional structure or fold.<p><a href='/help/domain' target='_top'>More...</a></p>Domaini347 – 404KASHPROSITE-ProRule annotationAdd BLAST58

<p>This subsection of the 'Family and domains' section provides general information on the biological role of a domain. The term 'domain' is intended here in its wide acceptation, it may be a structural domain, a transmembrane region or a functional domain. Several domains are described in this subsection.<p><a href='/help/domain_cc' target='_top'>More...</a></p>Domaini

The KASH domain, which contains a transmembrane domain, mediates the nuclear envelope targeting and is involved in the binding to SUN1 and SUN2 through recognition of their SUN domains.By similarity

<p>This subsection of the 'Family and domains' section provides information about the sequence similarity with other proteins.<p><a href='/help/sequence_similarities' target='_top'>More...</a></p>Sequence similaritiesi

Belongs to the nesprin family.Curated

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

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eggNOGi
ENOG502SZGW, Eukaryota

Ensembl GeneTree

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GeneTreei
ENSGT00510000049061

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...
HOGENOMi
CLU_034166_1_0_1

InParanoid: Eukaryotic Ortholog Groups

More...
InParanoidi
Q8N205

KEGG Orthology (KO)

More...
KOi
K23401

Identification of Orthologs from Complete Genome Data

More...
OMAi
IRSEQAQ

Database of Orthologous Groups

More...
OrthoDBi
938875at2759

Database for complete collections of gene phylogenies

More...
PhylomeDBi
Q8N205

Family and domain databases

Integrated resource of protein families, domains and functional sites

More...
InterProi
View protein in InterPro
IPR012315, KASH
IPR030268, SYNE4

The PANTHER Classification System

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PANTHERi
PTHR21640, PTHR21640, 1 hit

Pfam protein domain database

More...
Pfami
View protein in Pfam
PF10541, KASH, 1 hit

Simple Modular Architecture Research Tool; a protein domain database

More...
SMARTi
View protein in SMART
SM01249, KASH, 1 hit

PROSITE; a protein domain and family database

More...
PROSITEi
View protein in PROSITE
PS51049, KASH, 1 hit

<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence%5Flength">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>. The information is filed in different subsections. The current subsections and their content are listed below:<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequences (2+)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences%5Fsection">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>Sequence statusi: Complete.

This entry describes 2 <p>This subsection of the 'Sequence' section lists the alternative protein sequences (isoforms) that can be generated from the same gene by a single or by the combination of up to four biological events (alternative promoter usage, alternative splicing, alternative initiation and ribosomal frameshifting). Additionally, this section gives relevant information on each alternative protein isoform. This section is only present in reviewed entries, i.e. in UniProtKB/Swiss-Prot.<p><a href='/help/alternative_products' target='_top'>More...</a></p> isoformsi produced by alternative splicing. AlignAdd to basket

This entry has 2 described isoforms and 3 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: Q8N205-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the <div> <p><b>What is the canonical sequence?</b><p><a href='/help/canonical_and_isoforms' target='_top'>More...</a></p>canonicali 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
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
Length:404
Mass (Da):43,512
Last modified:October 2, 2007 - v2
<p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> Checksum:iF15E209FB06636D2
GO
Isoform 2 (identifier: Q8N205-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     94-206: Missing.

Show »
Length:291
Mass (Da):30,975
Checksum:iA8ABE973A89DD240
GO

<p>In eukaryotic reference proteomes, unreviewed entries that are likely to belong to the same gene are computationally mapped, based on gene identifiers from Ensembl, EnsemblGenomes and model organism databases.<p><a href='/help/gene_centric_isoform_mapping' target='_top'>More...</a></p>Computationally mapped potential isoform sequencesi

There are 3 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
D6RAE3D6RAE3_HUMAN
Nesprin-4
SYNE4
354Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
H0Y9Z1H0Y9Z1_HUMAN
Nesprin-4
SYNE4
151Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
H9KVA3H9KVA3_HUMAN
Nesprin-4
SYNE4
44Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>

<p>This subsection of the 'Sequence' section reports difference(s) between the protein sequence shown in the UniProtKB entry and other available protein sequences derived from the same gene.<p><a href='/help/sequence_caution' target='_top'>More...</a></p>Sequence cautioni

The sequence BAC04222 differs from that shown. Intron retention.Curated

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Sequence' section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_035284224S → L. Corresponds to variant dbSNP:rs34818970Ensembl.1
Natural variantiVAR_035285278Q → H1 PublicationCorresponds to variant dbSNP:rs2285422EnsemblClinVar.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Sequence' section describes the sequence of naturally occurring alternative protein isoform(s). The changes in the amino acid sequence may be due to alternative splicing, alternative promoter usage, alternative initiation, or ribosomal frameshifting.<p><a href='/help/var_seq' target='_top'>More...</a></p>Alternative sequenceiVSP_02844494 – 206Missing in isoform 2. 1 PublicationAdd BLAST113

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

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EMBLi

GenBank nucleotide sequence database

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GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

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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

The Consensus CDS (CCDS) project

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CCDSi
CCDS42553.1 [Q8N205-1]
CCDS77285.1 [Q8N205-2]

NCBI Reference Sequences

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RefSeqi
NP_001034965.1, NM_001039876.2 [Q8N205-1]
NP_001284664.1, NM_001297735.2 [Q8N205-2]

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...
Ensembli
ENST00000324444; ENSP00000316130; ENSG00000181392 [Q8N205-1]
ENST00000340477; ENSP00000343152; ENSG00000181392 [Q8N205-2]

Database of genes from NCBI RefSeq genomes

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GeneIDi
163183

KEGG: Kyoto Encyclopedia of Genes and Genomes

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KEGGi
hsa:163183

UCSC genome browser

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UCSCi
uc002ocq.2, human [Q8N205-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

<p>This section provides links to proteins that are similar to the protein sequence(s) described in this entry at different levels of sequence identity thresholds (100%, 90% and 50%) based on their membership in UniProt Reference Clusters (<a href="http://www.uniprot.org/help/uniref">UniRef</a>).<p><a href='/help/similar_proteins_section' target='_top'>More...</a></p>Similar proteinsi

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>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
CCDSiCCDS42553.1 [Q8N205-1]
CCDS77285.1 [Q8N205-2]
RefSeqiNP_001034965.1, NM_001039876.2 [Q8N205-1]
NP_001284664.1, NM_001297735.2 [Q8N205-2]

3D structure databases

Select the link destinations:

Protein Data Bank Europe

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PDBei

Protein Data Bank RCSB

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RCSB PDBi

Protein Data Bank Japan

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PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
6R16X-ray2.75G/H/I/J/K/L376-404[»]
SMRiQ8N205
ModBaseiSearch...
PDBe-KBiSearch...

Protein-protein interaction databases

BioGRIDi127856, 98 interactors
IntActiQ8N205, 89 interactors
MINTiQ8N205
STRINGi9606.ENSP00000316130

PTM databases

iPTMnetiQ8N205
PhosphoSitePlusiQ8N205

Polymorphism and mutation databases

BioMutaiSYNE4
DMDMi158706458

Proteomic databases

EPDiQ8N205
jPOSTiQ8N205
MassIVEiQ8N205
MaxQBiQ8N205
PaxDbiQ8N205
PeptideAtlasiQ8N205
PRIDEiQ8N205
ProteomicsDBi71647 [Q8N205-1]
71648 [Q8N205-2]

Protocols and materials databases

Antibodypedia a portal for validated antibodies

More...
Antibodypediai
34811, 96 antibodies

Genome annotation databases

EnsembliENST00000324444; ENSP00000316130; ENSG00000181392 [Q8N205-1]
ENST00000340477; ENSP00000343152; ENSG00000181392 [Q8N205-2]
GeneIDi163183
KEGGihsa:163183
UCSCiuc002ocq.2, human [Q8N205-1]

Organism-specific databases

Comparative Toxicogenomics Database

More...
CTDi
163183
DisGeNETi163183
EuPathDBiHostDB:ENSG00000181392.14

GeneCards: human genes, protein and diseases

More...
GeneCardsi
SYNE4
HGNCiHGNC:26703, SYNE4
HPAiENSG00000181392, Low tissue specificity
MalaCardsiSYNE4
MIMi615535, gene
615540, phenotype
neXtProtiNX_Q8N205
OpenTargetsiENSG00000181392
Orphaneti90636, Autosomal recessive non-syndromic sensorineural deafness type DFNB
PharmGKBiPA145149542

GenAtlas: human gene database

More...
GenAtlasi
Search...

Phylogenomic databases

eggNOGiENOG502SZGW, Eukaryota
GeneTreeiENSGT00510000049061
HOGENOMiCLU_034166_1_0_1
InParanoidiQ8N205
KOiK23401
OMAiIRSEQAQ
OrthoDBi938875at2759
PhylomeDBiQ8N205

Enzyme and pathway databases

PathwayCommonsiQ8N205

Miscellaneous databases

BioGRID ORCS database of CRISPR phenotype screens

More...
BioGRID-ORCSi
163183, 6 hits in 874 CRISPR screens

ChiTaRS: a database of human, mouse and fruit fly chimeric transcripts and RNA-sequencing data

More...
ChiTaRSi
SYNE4, human

Database of phenotypes from RNA interference screens in Drosophila and Homo sapiens

More...
GenomeRNAii
163183
PharosiQ8N205, Tdark

Protein Ontology

More...
PROi
PR:Q8N205
RNActiQ8N205, protein

The Stanford Online Universal Resource for Clones and ESTs

More...
SOURCEi
Search...

Gene expression databases

BgeeiENSG00000181392, Expressed in prostate gland and 135 other tissues
ExpressionAtlasiQ8N205, baseline and differential
GenevisibleiQ8N205, HS

Family and domain databases

InterProiView protein in InterPro
IPR012315, KASH
IPR030268, SYNE4
PANTHERiPTHR21640, PTHR21640, 1 hit
PfamiView protein in Pfam
PF10541, KASH, 1 hit
SMARTiView protein in SMART
SM01249, KASH, 1 hit
PROSITEiView protein in PROSITE
PS51049, KASH, 1 hit

ProtoNet; Automatic hierarchical classification of proteins

More...
ProtoNeti
Search...

MobiDB: a database of protein disorder and mobility annotations

More...
MobiDBi
Search...

<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

<p>This subsection of the 'Entry information' section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.<p><a href='/help/entry_name' target='_top'>More...</a></p>Entry nameiSYNE4_HUMAN
<p>This subsection of the 'Entry information' section provides one or more accession number(s). These are stable identifiers and should be used to cite UniProtKB entries. Upon integration into UniProtKB, each entry is assigned a unique accession number, which is called 'Primary (citable) accession number'.<p><a href='/help/accession_numbers' target='_top'>More...</a></p>AccessioniPrimary (citable) accession number: Q8N205
Secondary accession number(s): A8MRS0, A8MYE3, Q7Z7L3
<p>This subsection of the 'Entry information' section shows the date of integration of the entry into UniProtKB, the date of the last sequence update and the date of the last annotation modification ('Last modified'). The version number for both the entry and the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: October 2, 2007
Last sequence update: October 2, 2007
Last modified: October 7, 2020
This is version 134 of the entry and version 2 of the sequence. See complete history.
<p>This subsection of the 'Entry information' section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>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.

<p>This section contains any relevant information that doesn't fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>Miscellaneousi

Keywords - Technical termi

3D-structure, Reference proteome

Documents

  1. Human chromosome 19
    Human chromosome 19: entries, gene names and cross-references to MIM
  2. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  3. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  4. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  5. SIMILARITY comments
    Index of protein domains and families
  6. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
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