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Q8N205

- SYNE4_HUMAN

UniProt

Q8N205 - SYNE4_HUMAN

Protein

Nesprin-4

Gene

SYNE4

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 4 out of 5- Experimental evidence at transcript leveli
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    • History
      Entry version 87 (01 Oct 2014)
      Sequence version 2 (02 Oct 2007)
      Previous versions | rss
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    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

    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

    GO - Cellular componenti

    1. integral component of nuclear outer membrane Source: UniProtKB

    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 nonsyndromic 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

    ArrayExpressiQ8N205.
    BgeeiQ8N205.
    CleanExiHS_C19orf46.
    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. 5 interactions.
    IntActiQ8N205. 6 interactions.
    MINTiMINT-8247425.

    Structurei

    3D structure databases

    ProteinModelPortaliQ8N205.
    ModBaseiSearch...
    MobiDBiSearch...

    Topological domain

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Topological domaini1 – 355355CytoplasmicPROSITE-ProRule annotationAdd
    BLAST
    Topological domaini377 – 40428Perinuclear spacePROSITE-ProRule annotationAdd
    BLAST

    Transmembrane

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Transmembranei356 – 37621Helical; Anchor for type IV membrane proteinPROSITE-ProRule annotationAdd
    BLAST

    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.
    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

    MALSLPLGPR LGSEPLNHPP GAPREADIVG CTVCPASGEE STSPEQAQTL    50
    GQDSLGPPEH FQGGPRGNEP AAHPPRWSTP SSYEDPAGGK HCEHPISGLE 100
    VLEAEQNSLH LCLLGLGRRL QDLEQGLGHW ALAQSGMVQL QALQVDLRGA 150
    AERVEALLAF GEGLAQRSEP RAWAALEQIL RALGAYRDSI FRRLWQLQAQ 200
    LVSYSLVFEE ANTLDQDLEV EGDSDWPGPG GVWGPWAPSS LPTSTELEWD 250
    PAGDIGGLGP LGQKTARTLG VPCELCGQRG PQGRGQGLEE ADTSHSRQDM 300
    LESGLGHQKR LARHQRHSLL RKPQDKKRQA SPHLQDVRLE GNPGAPDPAS 350
    RQPLTFLLIL FLLFLLLVGA MFLLPASGGP CCSHARIPRT PYLVLSYVNG 400
    LPPV 404
    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.

    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:
    EMBL
    GenBank
    DDBJ
    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]
    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:
    EMBL
    GenBank
    DDBJ
    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 ]
    UniGenei Hs.436743.

    3D structure databases

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

    Protein-protein interaction databases

    BioGridi 127856. 5 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 GC19M036602.
    HGNCi HGNC:26703. SYNE4.
    HPAi HPA060253.
    MIMi 615535. gene.
    615540. phenotype.
    neXtProti NX_Q8N205.
    Orphaneti 90636. Autosomal recessive nonsyndromic sensorineural deafness type DFNB.
    PharmGKBi PA145149542.
    GenAtlasi Search...

    Phylogenomic databases

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

    Miscellaneous databases

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

    Gene expression databases

    ArrayExpressi Q8N205.
    Bgeei Q8N205.
    CleanExi HS_C19orf46.
    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

    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: October 1, 2014
    This is version 87 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