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Q8N205

- SYNE4_HUMAN

UniProt

Q8N205 - SYNE4_HUMAN

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Protein

Nesprin-4

Gene

SYNE4

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 4 out of 5- Experimental evidence at transcript leveli

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

GO - Biological processi

  1. establishment of epithelial cell apical/basal polarity Source: UniProtKB
Complete GO annotation...

Names & Taxonomyi

Protein namesi
Recommended name:
Nesprin-4
Alternative name(s):
Nuclear envelope spectrin repeat protein 4
Gene namesi
Name:SYNE4
Synonyms:C19orf46
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640: Chromosome 19

Organism-specific databases

HGNCiHGNC:26703. SYNE4.

Subcellular locationi

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

Topology

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Topological domaini1 – 355355CytoplasmicPROSITE-ProRule annotationAdd
BLAST
Transmembranei356 – 37621Helical; Anchor for type IV membrane proteinPROSITE-ProRule annotationAdd
BLAST
Topological domaini377 – 40428Perinuclear spacePROSITE-ProRule annotationAdd
BLAST

GO - Cellular componenti

  1. integral component of nuclear outer membrane Source: UniProtKB
Complete GO annotation...

Keywords - Cellular componenti

Membrane, Nucleus

Pathology & Biotechi

Involvement in diseasei

Deafness, autosomal recessive, 76 (DFNB76) [MIM:615540]: A 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.1 Publication
Note: The disease is caused by mutations affecting the gene represented in this entry.

Keywords - Diseasei

Deafness, Non-syndromic deafness

Organism-specific databases

MIMi615540. phenotype.
Orphaneti90636. Autosomal recessive non-syndromic sensorineural deafness type DFNB.
PharmGKBiPA145149542.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 404404Nesprin-4PRO_0000306264Add
BLAST

Proteomic databases

MaxQBiQ8N205.
PaxDbiQ8N205.
PRIDEiQ8N205.

PTM databases

PhosphoSiteiQ8N205.

Expressioni

Gene expression databases

BgeeiQ8N205.
CleanExiHS_C19orf46.
ExpressionAtlasiQ8N205. baseline and differential.
GenevestigatoriQ8N205.

Organism-specific databases

HPAiHPA060253.

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 (By similarity). Interacts with kinesins KIF5B and KLC1 (By similarity).By similarity

Protein-protein interaction databases

BioGridi127856. 47 interactions.
IntActiQ8N205. 6 interactions.
MINTiMINT-8247425.

Structurei

3D structure databases

ProteinModelPortaliQ8N205.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Domaini347 – 40458KASHPROSITE-ProRule annotationAdd
BLAST

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

Sequence similaritiesi

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

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiNOG39456.
GeneTreeiENSGT00510000049061.
HOGENOMiHOG000111992.
HOVERGENiHBG107763.
InParanoidiQ8N205.
OMAiSHRKHLA.
PhylomeDBiQ8N205.

Family and domain databases

InterProiIPR012315. KASH.
[Graphical view]
PfamiPF10541. KASH. 1 hit.
[Graphical view]
PROSITEiPS51049. KASH. 1 hit.
[Graphical view]

Sequences (2)i

Sequence statusi: Complete.

This entry describes 2 isoformsi produced by alternative splicing. Align

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

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
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
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

Sequence cautioni

The sequence BAC04222.1 differs from that shown. Reason: Intron retention.Curated

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti224 – 2241S → L.
Corresponds to variant rs34818970 [ dbSNP | Ensembl ].
VAR_035284
Natural varianti278 – 2781Q → H.1 Publication
Corresponds to variant rs2285422 [ dbSNP | Ensembl ].
VAR_035285

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei94 – 206113Missing in isoform 2. 1 PublicationVSP_028444Add
BLAST

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]
RefSeqiNP_001034965.1. NM_001039876.1. [Q8N205-1]
NP_001284664.1. NM_001297735.1. [Q8N205-2]
UniGeneiHs.436743.

Genome annotation databases

EnsembliENST00000324444; ENSP00000316130; ENSG00000181392. [Q8N205-1]
ENST00000340477; ENSP00000343152; ENSG00000181392. [Q8N205-2]
GeneIDi163183.
KEGGihsa:163183.
UCSCiuc002ocq.1. human. [Q8N205-1]
uc002ocs.1. human. [Q8N205-2]

Polymorphism databases

DMDMi158706458.

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

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 ]
RefSeqi NP_001034965.1. NM_001039876.1. [Q8N205-1 ]
NP_001284664.1. NM_001297735.1. [Q8N205-2 ]
UniGenei Hs.436743.

3D structure databases

ProteinModelPortali Q8N205.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 127856. 47 interactions.
IntActi Q8N205. 6 interactions.
MINTi MINT-8247425.

PTM databases

PhosphoSitei Q8N205.

Polymorphism databases

DMDMi 158706458.

Proteomic databases

MaxQBi Q8N205.
PaxDbi Q8N205.
PRIDEi Q8N205.

Protocols and materials databases

Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000324444 ; ENSP00000316130 ; ENSG00000181392 . [Q8N205-1 ]
ENST00000340477 ; ENSP00000343152 ; ENSG00000181392 . [Q8N205-2 ]
GeneIDi 163183.
KEGGi hsa:163183.
UCSCi uc002ocq.1. human. [Q8N205-1 ]
uc002ocs.1. human. [Q8N205-2 ]

Organism-specific databases

CTDi 163183.
GeneCardsi GC19M037065.
HGNCi HGNC:26703. SYNE4.
HPAi HPA060253.
MIMi 615535. gene.
615540. phenotype.
neXtProti NX_Q8N205.
Orphaneti 90636. Autosomal recessive non-syndromic sensorineural deafness type DFNB.
PharmGKBi PA145149542.
GenAtlasi Search...

Phylogenomic databases

eggNOGi NOG39456.
GeneTreei ENSGT00510000049061.
HOGENOMi HOG000111992.
HOVERGENi HBG107763.
InParanoidi Q8N205.
OMAi SHRKHLA.
PhylomeDBi Q8N205.

Miscellaneous databases

GenomeRNAii 163183.
NextBioi 88324.
PROi Q8N205.
SOURCEi Search...

Gene expression databases

Bgeei Q8N205.
CleanExi HS_C19orf46.
ExpressionAtlasi Q8N205. baseline and differential.
Genevestigatori Q8N205.

Family and domain databases

InterProi IPR012315. KASH.
[Graphical view ]
Pfami PF10541. KASH. 1 hit.
[Graphical view ]
PROSITEi PS51049. KASH. 1 hit.
[Graphical view ]
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  1. "Complete sequencing and characterization of 21,243 full-length human cDNAs."
    Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.
    , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.
    Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
    Tissue: Thymus.
  2. "The DNA sequence and biology of human chromosome 19."
    Grimwood J., Gordon L.A., Olsen A.S., Terry A., Schmutz J., Lamerdin J.E., Hellsten U., Goodstein D., Couronne O., Tran-Gyamfi M., Aerts A., Altherr M., Ashworth L., Bajorek E., Black S., Branscomb E., Caenepeel S., Carrano A.V.
    , Caoile C., Chan Y.M., Christensen M., Cleland C.A., Copeland A., Dalin E., Dehal P., Denys M., Detter J.C., Escobar J., Flowers D., Fotopulos D., Garcia C., Georgescu A.M., Glavina T., Gomez M., Gonzales E., Groza M., Hammon N., Hawkins T., Haydu L., Ho I., Huang W., Israni S., Jett J., Kadner K., Kimball H., Kobayashi A., Larionov V., Leem S.-H., Lopez F., Lou Y., Lowry S., Malfatti S., Martinez D., McCready P.M., Medina C., Morgan J., Nelson K., Nolan M., Ovcharenko I., Pitluck S., Pollard M., Popkie A.P., Predki P., Quan G., Ramirez L., Rash S., Retterer J., Rodriguez A., Rogers S., Salamov A., Salazar A., She X., Smith D., Slezak T., Solovyev V., Thayer N., Tice H., Tsai M., Ustaszewska A., Vo N., Wagner M., Wheeler J., Wu K., Xie G., Yang J., Dubchak I., Furey T.S., DeJong P., Dickson M., Gordon D., Eichler E.E., Pennacchio L.A., Richardson P., Stubbs L., Rokhsar D.S., Myers R.M., Rubin E.M., Lucas S.M.
    Nature 428:529-535(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  3. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
    The MGC Project Team
    Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2), VARIANT HIS-278.
    Tissue: Mammary carcinoma.
  4. Cited for: INVOLVEMENT IN DFNB76, SUBCELLULAR LOCATION.

Entry informationi

Entry nameiSYNE4_HUMAN
AccessioniPrimary (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: November 26, 2014
This is version 89 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 19
    Human chromosome 19: 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

External Data

Dasty 3