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Q0ZGT2

- NEXN_HUMAN

UniProt

Q0ZGT2 - NEXN_HUMAN

Protein

Nexilin

Gene

NEXN

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 84 (01 Oct 2014)
      Sequence version 1 (22 Aug 2006)
      Previous versions | rss
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    Functioni

    Involved in regulating cell migration through association with the actin cytoskeleton. Has an essential role in the maintenance of Z line and sarcomere integrity.3 Publications

    GO - Molecular functioni

    1. actin filament binding Source: UniProtKB
    2. calmodulin-dependent protein kinase activity Source: RefGenome
    3. structural constituent of muscle Source: UniProtKB

    GO - Biological processi

    1. cardiac muscle fiber development Source: RefGenome
    2. protein phosphorylation Source: GOC
    3. regulation of cell migration Source: UniProtKB
    4. regulation of cytoskeleton organization Source: UniProtKB

    Keywords - Ligandi

    Actin-binding

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Nexilin
    Alternative name(s):
    F-actin-binding protein
    Nelin
    Gene namesi
    Name:NEXNImported
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 1

    Organism-specific databases

    HGNCiHGNC:29557. NEXN.

    Subcellular locationi

    Cytoplasmcytoskeleton By similarity. Cell junctionadherens junction By similarity. CytoplasmmyofibrilsarcomereZ line By similarity
    Note: Localizes to the cell-matrix AJ. Not found at the cell-cell AJ By similarity.By similarity1 Publication

    GO - Cellular componenti

    1. cell-substrate adherens junction Source: Ensembl
    2. cytoskeleton Source: UniProtKB-SubCell
    3. Z disc Source: UniProtKB

    Keywords - Cellular componenti

    Cell junction, Cytoplasm, Cytoskeleton

    Pathology & Biotechi

    Involvement in diseasei

    Cardiomyopathy, dilated 1CC (CMD1CC) [MIM:613122]: A disorder characterized by ventricular dilation and impaired systolic function, resulting in congestive heart failure and arrhythmia. Patients are at risk of premature death.1 Publication
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti611 – 6111P → T in CMD1CC; affects cardiac Z line integrity; no effect on protein expression and stability. 1 Publication
    VAR_063009
    Natural varianti650 – 6501Missing in CMD1CC; affects cardiac Z-disk integrity; no effect on protein expression and stability. 1 Publication
    VAR_063010
    Natural varianti652 – 6521Y → C in CMD1CC; affects cardiac Z line integrity; no effect on protein expression and stability. 1 Publication
    VAR_063011
    Cardiomyopathy, familial hypertrophic 20 (CMH20) [MIM:613876]: A hereditary heart disorder characterized by ventricular hypertrophy, which is usually asymmetric and often involves the interventricular septum. The symptoms include dyspnea, syncope, collapse, palpitations, and chest pain. They can be readily provoked by exercise. The disorder has inter- and intrafamilial variability ranging from benign to malignant forms with high risk of cardiac failure and sudden cardiac death.1 Publication
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti131 – 1311Q → E in CMH20; affects interaction with ACTA1 and F-actin. 1 Publication
    VAR_065477
    Natural varianti279 – 2791R → C in CMH20; the mutant protein accumulates in the cytoplasm but binding to ACTA1 is not altered. 1 Publication
    Corresponds to variant rs146245480 [ dbSNP | Ensembl ].
    VAR_065478

    Keywords - Diseasei

    Cardiomyopathy, Disease mutation

    Organism-specific databases

    MIMi613122. phenotype.
    613876. phenotype.
    Orphaneti154. Familial isolated dilated cardiomyopathy.
    155. Familial isolated hypertrophic cardiomyopathy.
    PharmGKBiPA134974801.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 675675NexilinPRO_0000302085Add
    BLAST

    Amino acid modifications

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Modified residuei80 – 801Phosphoserine5 Publications
    Modified residuei241 – 2411Phosphoserine1 Publication
    Modified residuei357 – 3571Phosphoserine2 Publications
    Modified residuei365 – 3651Phosphoserine1 Publication
    Modified residuei370 – 3701Phosphothreonine2 Publications

    Keywords - PTMi

    Phosphoprotein

    Proteomic databases

    MaxQBiQ0ZGT2.
    PaxDbiQ0ZGT2.
    PRIDEiQ0ZGT2.

    PTM databases

    PhosphoSiteiQ0ZGT2.

    Expressioni

    Tissue specificityi

    Abundantly expressed in heart and skeletal muscle, and at lower levels in placenta, lung, liver and pancreas. Also expressed in HeLaS3 and MOLT-4 cell lines.3 Publications

    Gene expression databases

    ArrayExpressiQ0ZGT2.
    BgeeiQ0ZGT2.
    CleanExiHS_NEXN.
    GenevestigatoriQ0ZGT2.

    Organism-specific databases

    HPAiHPA011185.

    Interactioni

    Subunit structurei

    Interacts with F-actin.1 Publication

    Protein-protein interaction databases

    BioGridi124855. 8 interactions.
    IntActiQ0ZGT2. 6 interactions.
    MINTiMINT-8187852.

    Structurei

    3D structure databases

    ProteinModelPortaliQ0ZGT2.
    SMRiQ0ZGT2. Positions 563-672.
    ModBaseiSearch...
    MobiDBiSearch...

    Family & Domainsi

    Domains and Repeats

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Domaini582 – 67089Ig-likeSequence AnalysisAdd
    BLAST

    Compositional bias

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Compositional biasi43 – 575533Glu-richSequence AnalysisAdd
    BLAST

    Sequence similaritiesi

    Contains 1 Ig-like (immunoglobulin-like) domain.Sequence Analysis

    Keywords - Domaini

    Immunoglobulin domain

    Phylogenomic databases

    eggNOGiNOG147699.
    HOVERGENiHBG066529.
    InParanoidiQ0ZGT2.
    OMAiNFHEEED.
    OrthoDBiEOG7TBC1Z.
    PhylomeDBiQ0ZGT2.
    TreeFamiTF328960.

    Family and domain databases

    Gene3Di2.60.40.10. 1 hit.
    InterProiIPR007110. Ig-like_dom.
    IPR013783. Ig-like_fold.
    IPR013098. Ig_I-set.
    IPR003599. Ig_sub.
    IPR020675. Myosin_light_ch_kinase-rel.
    [Graphical view]
    PANTHERiPTHR22964. PTHR22964. 1 hit.
    PfamiPF07679. I-set. 1 hit.
    [Graphical view]
    SMARTiSM00409. IG. 1 hit.
    [Graphical view]
    PROSITEiPS50835. IG_LIKE. 1 hit.
    [Graphical view]

    Sequences (4)i

    Sequence statusi: Complete.

    This entry describes 4 isoformsi produced by alternative splicing. Align

    Isoform 11 Publication (identifier: Q0ZGT2-1) [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

    MNDISQKAEI LLSSSKPVPK TYVPKLGKGD VKDKFEAMQR AREERNQRRS    50
    RDEKQRRKEQ YIREREWNRR KQEIKEMLAS DDEEDVSSKV EKAYVPKLTG 100
    TVKGRFAEME KQRQEEQRKR TEEERKRRIE QDMLEKRKIQ RELAKRAEQI 150
    EDINNTGTES ASEEGDDSLL ITVVPVKSYK TSGKMKKNFE DLEKEREEKE 200
    RIKYEEDKRI RYEEQRPSLK EAKCLSLVMD DEIESEAKKE SLSPGKLKLT 250
    FEELERQRQE NRKKQAEEEA RKRLEEEKRA FEEARRQMVN EDEENQDTAK 300
    IFKGYRPGKL KLSFEEMERQ RREDEKRKAE EEARRRIEEE KKAFAEARRN 350
    MVVDDDSPEM YKTISQEFLT PGKLEINFEE LLKQKMEEEK RRTEEERKHK 400
    LEMEKQEFEQ LRQEMGEEEE ENETFGLSRE YEELIKLKRS GSIQAKNLKS 450
    KFEKIGQLSE KEIQKKIEEE RARRRAIDLE IKEREAENFH EEDDVDVRPA 500
    RKSEAPFTHK VNMKARFEQM AKAREEEEQR RIEEQKLLRM QFEQREIDAA 550
    LQKKREEEEE EEGSIMNGST AEDEEQTRSG APWFKKPLKN TSVVDSEPVR 600
    FTVKVTGEPK PEITWWFEGE ILQDGEDYQY IERGETYCLY LPETFPEDGG 650
    EYMCKAVNNK GSAASTCILT IESKN 675
    Length:675
    Mass (Da):80,658
    Last modified:August 22, 2006 - v1
    Checksum:i18D6336E62503E7F
    GO
    Isoform 21 Publication (identifier: Q0ZGT2-2) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         150-163: Missing.
         673-675: SKN → TDDY

    Note: No experimental confirmation available.Curated

    Show »
    Length:662
    Mass (Da):79,362
    Checksum:iE91BF5E00A8016D4
    GO
    Isoform 31 Publication (identifier: Q0ZGT2-3) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         237-298: Missing.

    Note: No experimental confirmation available.Curated

    Show »
    Length:613
    Mass (Da):73,128
    Checksum:i90EC363A14C50E7B
    GO
    Isoform 4 (identifier: Q0ZGT2-4) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         9-72: Missing.

    Note: No experimental confirmation available. Contains a phosphoserine at position 16.

    Show »
    Length:611
    Mass (Da):72,732
    Checksum:iD7A8A66A2BEF4255
    GO

    Sequence cautioni

    The sequence AAH17827.1 differs from that shown. Reason: Contaminating sequence. Potential poly-A sequence.
    The sequence AAH55084.1 differs from that shown. Reason: Contaminating sequence. Potential poly-A sequence.
    The sequence AAH55084.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.
    The sequence AAI11396.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.
    The sequence AAI14445.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.
    The sequence AAI14446.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.
    The sequence BAB71622.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti94 – 1018YVPKLTGT → NLPFTVP in AAD29607. (PubMed:15489334)Curated
    Sequence conflicti328 – 3281K → E in AAI14446. (PubMed:12053183)Curated
    Sequence conflicti429 – 4291R → K in AAD29607. (PubMed:15489334)Curated
    Sequence conflicti448 – 4481L → Q in AAH17827. (PubMed:12053183)Curated
    Sequence conflicti476 – 4761A → T in BAB71622. (PubMed:14702039)Curated
    Sequence conflicti637 – 6371Y → H in BAB71622. (PubMed:14702039)Curated

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti131 – 1311Q → E in CMH20; affects interaction with ACTA1 and F-actin. 1 Publication
    VAR_065477
    Natural varianti245 – 2451G → R.3 Publications
    Corresponds to variant rs1166698 [ dbSNP | Ensembl ].
    VAR_049963
    Natural varianti279 – 2791R → C in CMH20; the mutant protein accumulates in the cytoplasm but binding to ACTA1 is not altered. 1 Publication
    Corresponds to variant rs146245480 [ dbSNP | Ensembl ].
    VAR_065478
    Natural varianti335 – 3351R → K.
    Corresponds to variant rs9660322 [ dbSNP | Ensembl ].
    VAR_059414
    Natural varianti611 – 6111P → T in CMD1CC; affects cardiac Z line integrity; no effect on protein expression and stability. 1 Publication
    VAR_063009
    Natural varianti650 – 6501Missing in CMD1CC; affects cardiac Z-disk integrity; no effect on protein expression and stability. 1 Publication
    VAR_063010
    Natural varianti652 – 6521Y → C in CMD1CC; affects cardiac Z line integrity; no effect on protein expression and stability. 1 Publication
    VAR_063011

    Alternative sequence

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Alternative sequencei9 – 7264Missing in isoform 4. 1 PublicationVSP_043439Add
    BLAST
    Alternative sequencei150 – 16314Missing in isoform 2. 1 PublicationVSP_052541Add
    BLAST
    Alternative sequencei237 – 29862Missing in isoform 3. 1 PublicationVSP_052542Add
    BLAST
    Alternative sequencei673 – 6753SKN → TDDY in isoform 2. 1 PublicationVSP_052543

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    DQ464902 mRNA. Translation: ABE97925.1.
    AK057954 mRNA. Translation: BAB71622.1. Different initiation.
    AK298565 mRNA. Translation: BAG60759.1.
    AC096948 Genomic DNA. No translation available.
    AC138392 Genomic DNA. No translation available.
    BC055084 mRNA. Translation: AAH55084.1. Sequence problems.
    BC017827 mRNA. Translation: AAH17827.1. Sequence problems.
    BC111395 mRNA. Translation: AAI11396.1. Different initiation.
    BC114444 mRNA. Translation: AAI14445.1. Different initiation.
    BC114445 mRNA. Translation: AAI14446.1. Different initiation.
    AF114264 mRNA. Translation: AAD29607.1.
    S67069 mRNA. Translation: AAB28815.1.
    CCDSiCCDS41351.1. [Q0ZGT2-1]
    CCDS53335.1. [Q0ZGT2-4]
    RefSeqiNP_001165780.1. NM_001172309.1. [Q0ZGT2-4]
    NP_653174.3. NM_144573.3. [Q0ZGT2-1]
    XP_005271380.1. XM_005271323.1. [Q0ZGT2-2]
    UniGeneiHs.612385.

    Genome annotation databases

    EnsembliENST00000330010; ENSP00000327363; ENSG00000162614. [Q0ZGT2-4]
    ENST00000334785; ENSP00000333938; ENSG00000162614. [Q0ZGT2-1]
    GeneIDi91624.
    KEGGihsa:91624.
    UCSCiuc001dia.3. human. [Q0ZGT2-2]
    uc001dib.4. human. [Q0ZGT2-4]
    uc001dic.4. human. [Q0ZGT2-1]

    Polymorphism databases

    DMDMi121945484.

    Keywords - Coding sequence diversityi

    Alternative splicing, Polymorphism

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    DQ464902 mRNA. Translation: ABE97925.1 .
    AK057954 mRNA. Translation: BAB71622.1 . Different initiation.
    AK298565 mRNA. Translation: BAG60759.1 .
    AC096948 Genomic DNA. No translation available.
    AC138392 Genomic DNA. No translation available.
    BC055084 mRNA. Translation: AAH55084.1 . Sequence problems.
    BC017827 mRNA. Translation: AAH17827.1 . Sequence problems.
    BC111395 mRNA. Translation: AAI11396.1 . Different initiation.
    BC114444 mRNA. Translation: AAI14445.1 . Different initiation.
    BC114445 mRNA. Translation: AAI14446.1 . Different initiation.
    AF114264 mRNA. Translation: AAD29607.1 .
    S67069 mRNA. Translation: AAB28815.1 .
    CCDSi CCDS41351.1. [Q0ZGT2-1 ]
    CCDS53335.1. [Q0ZGT2-4 ]
    RefSeqi NP_001165780.1. NM_001172309.1. [Q0ZGT2-4 ]
    NP_653174.3. NM_144573.3. [Q0ZGT2-1 ]
    XP_005271380.1. XM_005271323.1. [Q0ZGT2-2 ]
    UniGenei Hs.612385.

    3D structure databases

    ProteinModelPortali Q0ZGT2.
    SMRi Q0ZGT2. Positions 563-672.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 124855. 8 interactions.
    IntActi Q0ZGT2. 6 interactions.
    MINTi MINT-8187852.

    PTM databases

    PhosphoSitei Q0ZGT2.

    Polymorphism databases

    DMDMi 121945484.

    Proteomic databases

    MaxQBi Q0ZGT2.
    PaxDbi Q0ZGT2.
    PRIDEi Q0ZGT2.

    Protocols and materials databases

    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000330010 ; ENSP00000327363 ; ENSG00000162614 . [Q0ZGT2-4 ]
    ENST00000334785 ; ENSP00000333938 ; ENSG00000162614 . [Q0ZGT2-1 ]
    GeneIDi 91624.
    KEGGi hsa:91624.
    UCSCi uc001dia.3. human. [Q0ZGT2-2 ]
    uc001dib.4. human. [Q0ZGT2-4 ]
    uc001dic.4. human. [Q0ZGT2-1 ]

    Organism-specific databases

    CTDi 91624.
    GeneCardsi GC01P078354.
    GeneReviewsi NEXN.
    HGNCi HGNC:29557. NEXN.
    HPAi HPA011185.
    MIMi 613121. gene.
    613122. phenotype.
    613876. phenotype.
    neXtProti NX_Q0ZGT2.
    Orphaneti 154. Familial isolated dilated cardiomyopathy.
    155. Familial isolated hypertrophic cardiomyopathy.
    PharmGKBi PA134974801.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG147699.
    HOVERGENi HBG066529.
    InParanoidi Q0ZGT2.
    OMAi NFHEEED.
    OrthoDBi EOG7TBC1Z.
    PhylomeDBi Q0ZGT2.
    TreeFami TF328960.

    Miscellaneous databases

    GenomeRNAii 91624.
    NextBioi 77345.
    PROi Q0ZGT2.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi Q0ZGT2.
    Bgeei Q0ZGT2.
    CleanExi HS_NEXN.
    Genevestigatori Q0ZGT2.

    Family and domain databases

    Gene3Di 2.60.40.10. 1 hit.
    InterProi IPR007110. Ig-like_dom.
    IPR013783. Ig-like_fold.
    IPR013098. Ig_I-set.
    IPR003599. Ig_sub.
    IPR020675. Myosin_light_ch_kinase-rel.
    [Graphical view ]
    PANTHERi PTHR22964. PTHR22964. 1 hit.
    Pfami PF07679. I-set. 1 hit.
    [Graphical view ]
    SMARTi SM00409. IG. 1 hit.
    [Graphical view ]
    PROSITEi PS50835. IG_LIKE. 1 hit.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    1. Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), FUNCTION, TISSUE SPECIFICITY, VARIANTS CMD1CC THR-611; GLY-650 DEL AND CYS-652, VARIANT ARG-245, CHARACTERIZATION OF VARIANTS CMD1CC THR-611; GLY-650 DEL AND CYS-652.
    2. "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 4), NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 100-675 (ISOFORM 3).
      Tissue: Gastric mucosaImported.
    3. "The DNA sequence and biological annotation of human chromosome 1."
      Gregory S.G., Barlow K.F., McLay K.E., Kaul R., Swarbreck D., Dunham A., Scott C.E., Howe K.L., Woodfine K., Spencer C.C.A., Jones M.C., Gillson C., Searle S., Zhou Y., Kokocinski F., McDonald L., Evans R., Phillips K.
      , Atkinson A., Cooper R., Jones C., Hall R.E., Andrews T.D., Lloyd C., Ainscough R., Almeida J.P., Ambrose K.D., Anderson F., Andrew R.W., Ashwell R.I.S., Aubin K., Babbage A.K., Bagguley C.L., Bailey J., Beasley H., Bethel G., Bird C.P., Bray-Allen S., Brown J.Y., Brown A.J., Buckley D., Burton J., Bye J., Carder C., Chapman J.C., Clark S.Y., Clarke G., Clee C., Cobley V., Collier R.E., Corby N., Coville G.J., Davies J., Deadman R., Dunn M., Earthrowl M., Ellington A.G., Errington H., Frankish A., Frankland J., French L., Garner P., Garnett J., Gay L., Ghori M.R.J., Gibson R., Gilby L.M., Gillett W., Glithero R.J., Grafham D.V., Griffiths C., Griffiths-Jones S., Grocock R., Hammond S., Harrison E.S.I., Hart E., Haugen E., Heath P.D., Holmes S., Holt K., Howden P.J., Hunt A.R., Hunt S.E., Hunter G., Isherwood J., James R., Johnson C., Johnson D., Joy A., Kay M., Kershaw J.K., Kibukawa M., Kimberley A.M., King A., Knights A.J., Lad H., Laird G., Lawlor S., Leongamornlert D.A., Lloyd D.M., Loveland J., Lovell J., Lush M.J., Lyne R., Martin S., Mashreghi-Mohammadi M., Matthews L., Matthews N.S.W., McLaren S., Milne S., Mistry S., Moore M.J.F., Nickerson T., O'Dell C.N., Oliver K., Palmeiri A., Palmer S.A., Parker A., Patel D., Pearce A.V., Peck A.I., Pelan S., Phelps K., Phillimore B.J., Plumb R., Rajan J., Raymond C., Rouse G., Saenphimmachak C., Sehra H.K., Sheridan E., Shownkeen R., Sims S., Skuce C.D., Smith M., Steward C., Subramanian S., Sycamore N., Tracey A., Tromans A., Van Helmond Z., Wall M., Wallis J.M., White S., Whitehead S.L., Wilkinson J.E., Willey D.L., Williams H., Wilming L., Wray P.W., Wu Z., Coulson A., Vaudin M., Sulston J.E., Durbin R.M., Hubbard T., Wooster R., Dunham I., Carter N.P., McVean G., Ross M.T., Harrow J., Olson M.V., Beck S., Rogers J., Bentley D.R.
      Nature 441:315-321(2006) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    4. "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), NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 100-675 (ISOFORM 1), VARIANT ARG-245.
      Tissue: Skeletal muscleImported.
    5. "Molecular cloning of NELIN, a putative human cytoskeleton regulation gene."
      Zhao Y., Wei Y.-J., Cao H.-Q., Ding J.-F.
      Sheng Wu Hua Xue Yu Sheng Wu Wu Li Xue Bao 33:19-24(2001) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 91-675 (ISOFORM 1), FUNCTION, TISSUE SPECIFICITY, VARIANT ARG-245.
      Tissue: HeartImported.
    6. "Muscle autoantigens in thyroid associated ophthalmopathy: the limits of molecular genetics."
      Elisei R., Weightman D., Kendall-Taylor P., Vassart G., Ludgate M.
      J. Endocrinol. Invest. 16:533-540(1993) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 108-454 (ISOFORM 1).
    7. "NELIN, a new F-actin associated protein, stimulates HeLa cell migration and adhesion."
      Wang W., Zhang W., Han Y., Chen J., Wang Y., Zhang Z., Hui R.
      Biochem. Biophys. Res. Commun. 330:1127-1131(2005) [PubMed] [Europe PMC] [Abstract]
      Cited for: FUNCTION, INTERACTION WITH F-ACTIN, SUBCELLULAR LOCATION, TISSUE SPECIFICITY.
    8. "Global, in vivo, and site-specific phosphorylation dynamics in signaling networks."
      Olsen J.V., Blagoev B., Gnad F., Macek B., Kumar C., Mortensen P., Mann M.
      Cell 127:635-648(2006) [PubMed] [Europe PMC] [Abstract]
      Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-80, PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-16 (ISOFORM 4), IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
      Tissue: Cervix carcinoma.
    9. "Improved titanium dioxide enrichment of phosphopeptides from HeLa cells and high confident phosphopeptide identification by cross-validation of MS/MS and MS/MS/MS spectra."
      Yu L.R., Zhu Z., Chan K.C., Issaq H.J., Dimitrov D.S., Veenstra T.D.
      J. Proteome Res. 6:4150-4162(2007) [PubMed] [Europe PMC] [Abstract]
      Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT THR-370, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
      Tissue: Cervix carcinoma.
    10. Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-80 AND SER-357, PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-16 (ISOFORM 4), IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
      Tissue: Cervix carcinoma.
    11. "Large-scale phosphoproteome analysis of human liver tissue by enrichment and fractionation of phosphopeptides with strong anion exchange chromatography."
      Han G., Ye M., Zhou H., Jiang X., Feng S., Jiang X., Tian R., Wan D., Zou H., Gu J.
      Proteomics 8:1346-1361(2008) [PubMed] [Europe PMC] [Abstract]
      Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-80, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
      Tissue: Liver.
    12. "Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis."
      Olsen J.V., Vermeulen M., Santamaria A., Kumar C., Miller M.L., Jensen L.J., Gnad F., Cox J., Jensen T.S., Nigg E.A., Brunak S., Mann M.
      Sci. Signal. 3:RA3-RA3(2010) [PubMed] [Europe PMC] [Abstract]
      Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-80; SER-241; SER-357 AND THR-370, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
      Tissue: Cervix carcinoma.
    13. "System-wide temporal characterization of the proteome and phosphoproteome of human embryonic stem cell differentiation."
      Rigbolt K.T., Prokhorova T.A., Akimov V., Henningsen J., Johansen P.T., Kratchmarova I., Kassem M., Mann M., Olsen J.V., Blagoev B.
      Sci. Signal. 4:RS3-RS3(2011) [PubMed] [Europe PMC] [Abstract]
      Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-80 AND SER-365, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
    14. "Mutations in NEXN, a Z-disc gene, are associated with hypertrophic cardiomyopathy."
      Wang H., Li Z., Wang J., Sun K., Cui Q., Song L., Zou Y., Wang X., Liu X., Hui R., Fan Y.
      Am. J. Hum. Genet. 87:687-693(2010) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANTS CMH20 GLU-131 AND CYS-279, CHARACTERIZATION OF VARIANTS CMH20 GLU-131 AND CYS-279.

    Entry informationi

    Entry nameiNEXN_HUMAN
    AccessioniPrimary (citable) accession number: Q0ZGT2
    Secondary accession number(s): A0PJ84
    , B4DPZ7, Q0D2H2, Q14CC2, Q14CC3, Q16081, Q7Z2X0, Q96DL0, Q9Y2V1
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: September 11, 2007
    Last sequence update: August 22, 2006
    Last modified: October 1, 2014
    This is version 84 of the entry and version 1 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 1
      Human chromosome 1: 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