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Q96EE3

- SEH1_HUMAN

UniProt

Q96EE3 - SEH1_HUMAN

Protein

Nucleoporin SEH1

Gene

SEH1L

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 117 (01 Oct 2014)
      Sequence version 3 (01 Sep 2009)
      Previous versions | rss
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    Functioni

    Component of the Nup107-160 subcomplex of the nuclear pore complex (NPC). The Nup107-160 subcomplex is required for the assembly of a functional NPC. The Nup107-160 subcomplex is also required for normal kinetochore microtubule attachment, mitotic progression and chromosome segregation. This subunit plays a role in recruitment of the Nup107-160 subcomplex to the kinetochore. As a component of the GATOR2 complex, inhibits GATOR1 complex, an inhibitor of the amino acid-sensing branch of the TORC1 pathway.3 Publications

    GO - Biological processi

    1. attachment of spindle microtubules to kinetochore involved in mitotic sister chromatid segregation Source: UniProtKB
    2. carbohydrate metabolic process Source: Reactome
    3. cytokine-mediated signaling pathway Source: Reactome
    4. glucose transport Source: Reactome
    5. hexose transport Source: Reactome
    6. mitotic cell cycle Source: Reactome
    7. mitotic metaphase plate congression Source: UniProtKB
    8. mitotic nuclear envelope disassembly Source: Reactome
    9. mRNA transport Source: UniProtKB-KW
    10. nuclear pore organization Source: UniProtKB
    11. protein transport Source: UniProtKB-KW
    12. regulation of glucose transport Source: Reactome
    13. small molecule metabolic process Source: Reactome
    14. transmembrane transport Source: Reactome
    15. viral process Source: Reactome

    Keywords - Biological processi

    Cell cycle, Cell division, Chromosome partition, Mitosis, mRNA transport, Protein transport, Translocation, Transport

    Enzyme and pathway databases

    ReactomeiREACT_115831. ISG15 antiviral mechanism.
    REACT_150425. Resolution of Sister Chromatid Cohesion.
    REACT_150471. Separation of Sister Chromatids.
    REACT_163931. Nuclear Pore Complex (NPC) Disassembly.
    REACT_6190. Rev-mediated nuclear export of HIV RNA.
    REACT_6804. Regulation of Glucokinase by Glucokinase Regulatory Protein.
    REACT_682. Mitotic Prometaphase.
    REACT_7991. Vpr-mediated nuclear import of PICs.
    REACT_9395. Nuclear import of Rev protein.
    SignaLinkiQ96EE3.

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Nucleoporin SEH1
    Alternative name(s):
    Nup107-160 subcomplex subunit SEH1
    SEC13-like protein
    Gene namesi
    Name:SEH1L
    Synonyms:SEC13L, SEH1
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 18

    Organism-specific databases

    HGNCiHGNC:30379. SEH1L.

    Subcellular locationi

    GO - Cellular componenti

    1. condensed chromosome kinetochore Source: UniProtKB-SubCell
    2. cytosol Source: Reactome
    3. nuclear envelope Source: Reactome
    4. nuclear pore outer ring Source: UniProtKB

    Keywords - Cellular componenti

    Centromere, Chromosome, Kinetochore, Nuclear pore complex, Nucleus

    Pathology & Biotechi

    Organism-specific databases

    PharmGKBiPA134912135.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 360360Nucleoporin SEH1PRO_0000051213Add
    BLAST

    Keywords - PTMi

    Phosphoprotein

    Proteomic databases

    MaxQBiQ96EE3.
    PaxDbiQ96EE3.
    PRIDEiQ96EE3.

    Expressioni

    Gene expression databases

    ArrayExpressiQ96EE3.
    BgeeiQ96EE3.
    CleanExiHS_SEH1L.
    GenevestigatoriQ96EE3.

    Organism-specific databases

    HPAiHPA039964.

    Interactioni

    Subunit structurei

    Component of the Nup107-160 subcomplex of the nuclear pore complex (NPC). The Nup107-160 subcomplex includes NUP160, NUP133, NUP107, NUP98, NUP85, NUP43, NUP37, SEH1 and SEC13. The SEH1 subunit appears to be only weakly associated with the Nup107-160 subcomplex. Within the GATOR complex, component of the GATOR2 subcomplex, made of MIOS, SEC13, SEH1L, WDR24 and WDR59. The GATOR complex strongly interacts with RRAGA/RRAGC and RRAGB/RRAGC heterodimers.2 Publications

    Protein-protein interaction databases

    BioGridi123629. 26 interactions.
    IntActiQ96EE3. 13 interactions.
    MINTiMINT-3052384.
    STRINGi9606.ENSP00000382779.

    Structurei

    3D structure databases

    ProteinModelPortaliQ96EE3.
    SMRiQ96EE3. Positions 11-319.
    ModBaseiSearch...
    MobiDBiSearch...

    Family & Domainsi

    Domains and Repeats

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Repeati10 – 4940WD 1Add
    BLAST
    Repeati55 – 9642WD 2Add
    BLAST
    Repeati111 – 15242WD 3Add
    BLAST
    Repeati160 – 21051WD 4Add
    BLAST
    Repeati217 – 25842WD 5Add
    BLAST
    Repeati276 – 31540WD 6Add
    BLAST

    Sequence similaritiesi

    Belongs to the WD repeat SEC13 family.Curated
    Contains 6 WD repeats.PROSITE-ProRule annotation

    Keywords - Domaini

    Repeat, WD repeat

    Phylogenomic databases

    eggNOGiCOG2319.
    HOGENOMiHOG000216896.
    InParanoidiQ96EE3.
    KOiK14299.
    OMAiYEAPDIM.
    PhylomeDBiQ96EE3.
    TreeFamiTF105924.

    Family and domain databases

    Gene3Di2.130.10.10. 2 hits.
    InterProiIPR020472. G-protein_beta_WD-40_rep.
    IPR015943. WD40/YVTN_repeat-like_dom.
    IPR001680. WD40_repeat.
    IPR017986. WD40_repeat_dom.
    [Graphical view]
    PfamiPF00400. WD40. 5 hits.
    [Graphical view]
    PRINTSiPR00320. GPROTEINBRPT.
    SMARTiSM00320. WD40. 5 hits.
    [Graphical view]
    SUPFAMiSSF50978. SSF50978. 1 hit.
    PROSITEiPS50082. WD_REPEATS_2. 2 hits.
    PS50294. WD_REPEATS_REGION. 2 hits.
    [Graphical view]

    Sequences (2)i

    Sequence statusi: Complete.

    This entry describes 2 isoformsi produced by alternative splicing. Align

    Isoform A (identifier: Q96EE3-2) [UniParc]FASTAAdd to Basket

    Also known as: SEH1A

    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

    MFVARSIAAD HKDLIHDVSF DFHGRRMATC SSDQSVKVWD KSESGDWHCT    50
    ASWKTHSGSV WRVTWAHPEF GQVLASCSFD RTAAVWEEIV GESNDKLRGQ 100
    SHWVKRTTLV DSRTSVTDVK FAPKHMGLML ATCSADGIVR IYEAPDVMNL 150
    SQWSLQHEIS CKLSCSCISW NPSSSRAHSP MIAVGSDDSS PNAMAKVQIF 200
    EYNENTRKYA KAETLMTVTD PVHDIAFAPN LGRSFHILAI ATKDVRIFTL 250
    KPVRKELTSS GGPTKFEIHI VAQFDNHNSQ VWRVSWNITG TVLASSGDDG 300
    CVRLWKANYM DNWKCTGILK GNGSPVNGSS QQGTSNPSLG STIPSLQNSL 350
    NGSSAGRKHS 360
    Length:360
    Mass (Da):39,649
    Last modified:September 1, 2009 - v3
    Checksum:iFB9ED2440C4EC9AB
    GO
    Isoform B (identifier: Q96EE3-1) [UniParc]FASTAAdd to Basket

    Also known as: SEH1B

    The sequence of this isoform differs from the canonical sequence as follows:
         358-360: KHS → YFFTPLDSPRAGSRWSSYAQLLPPPPPPLVEHSCDADTANLQYPHPRRRYLSRPLNPLPENEGI

    Note: Contains a phosphoserine at position 365.

    Show »
    Length:421
    Mass (Da):46,578
    Checksum:i0662C6681BB6CE68
    GO

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti78 – 781S → P in BAB71317. (PubMed:14702039)Curated

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti342 – 3421T → N.2 Publications
    Corresponds to variant rs6505776 [ dbSNP | Ensembl ].
    VAR_053417

    Alternative sequence

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Alternative sequencei358 – 3603KHS → YFFTPLDSPRAGSRWSSYAQ LLPPPPPPLVEHSCDADTAN LQYPHPRRRYLSRPLNPLPE NEGI in isoform B. 2 PublicationsVSP_037954

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AF255625 mRNA. Translation: AAM21169.1.
    AF431970 mRNA. Translation: AAM44214.1.
    AF514996 mRNA. Translation: AAM76707.1.
    AF136976 mRNA. Translation: AAG49437.1.
    AK056940 mRNA. Translation: BAB71317.1.
    AK291226 mRNA. Translation: BAF83915.1.
    BC012430 mRNA. Translation: AAH12430.1.
    CCDSiCCDS32791.1. [Q96EE3-1]
    CCDS45832.1. [Q96EE3-2]
    RefSeqiNP_001013455.1. NM_001013437.1. [Q96EE3-1]
    NP_112493.2. NM_031216.3. [Q96EE3-2]
    UniGeneiHs.301048.

    Genome annotation databases

    EnsembliENST00000262124; ENSP00000262124; ENSG00000085415. [Q96EE3-2]
    ENST00000399892; ENSP00000382779; ENSG00000085415. [Q96EE3-1]
    GeneIDi81929.
    KEGGihsa:81929.
    UCSCiuc002krq.3. human. [Q96EE3-1]
    uc002krr.3. human. [Q96EE3-2]

    Polymorphism databases

    DMDMi257051064.

    Keywords - Coding sequence diversityi

    Alternative splicing, Polymorphism

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AF255625 mRNA. Translation: AAM21169.1 .
    AF431970 mRNA. Translation: AAM44214.1 .
    AF514996 mRNA. Translation: AAM76707.1 .
    AF136976 mRNA. Translation: AAG49437.1 .
    AK056940 mRNA. Translation: BAB71317.1 .
    AK291226 mRNA. Translation: BAF83915.1 .
    BC012430 mRNA. Translation: AAH12430.1 .
    CCDSi CCDS32791.1. [Q96EE3-1 ]
    CCDS45832.1. [Q96EE3-2 ]
    RefSeqi NP_001013455.1. NM_001013437.1. [Q96EE3-1 ]
    NP_112493.2. NM_031216.3. [Q96EE3-2 ]
    UniGenei Hs.301048.

    3D structure databases

    ProteinModelPortali Q96EE3.
    SMRi Q96EE3. Positions 11-319.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 123629. 26 interactions.
    IntActi Q96EE3. 13 interactions.
    MINTi MINT-3052384.
    STRINGi 9606.ENSP00000382779.

    Polymorphism databases

    DMDMi 257051064.

    Proteomic databases

    MaxQBi Q96EE3.
    PaxDbi Q96EE3.
    PRIDEi Q96EE3.

    Protocols and materials databases

    DNASUi 81929.
    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000262124 ; ENSP00000262124 ; ENSG00000085415 . [Q96EE3-2 ]
    ENST00000399892 ; ENSP00000382779 ; ENSG00000085415 . [Q96EE3-1 ]
    GeneIDi 81929.
    KEGGi hsa:81929.
    UCSCi uc002krq.3. human. [Q96EE3-1 ]
    uc002krr.3. human. [Q96EE3-2 ]

    Organism-specific databases

    CTDi 81929.
    GeneCardsi GC18P012947.
    HGNCi HGNC:30379. SEH1L.
    HPAi HPA039964.
    MIMi 609263. gene.
    neXtProti NX_Q96EE3.
    PharmGKBi PA134912135.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi COG2319.
    HOGENOMi HOG000216896.
    InParanoidi Q96EE3.
    KOi K14299.
    OMAi YEAPDIM.
    PhylomeDBi Q96EE3.
    TreeFami TF105924.

    Enzyme and pathway databases

    Reactomei REACT_115831. ISG15 antiviral mechanism.
    REACT_150425. Resolution of Sister Chromatid Cohesion.
    REACT_150471. Separation of Sister Chromatids.
    REACT_163931. Nuclear Pore Complex (NPC) Disassembly.
    REACT_6190. Rev-mediated nuclear export of HIV RNA.
    REACT_6804. Regulation of Glucokinase by Glucokinase Regulatory Protein.
    REACT_682. Mitotic Prometaphase.
    REACT_7991. Vpr-mediated nuclear import of PICs.
    REACT_9395. Nuclear import of Rev protein.
    SignaLinki Q96EE3.

    Miscellaneous databases

    ChiTaRSi SEH1L. human.
    GenomeRNAii 81929.
    NextBioi 72265.
    PROi Q96EE3.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi Q96EE3.
    Bgeei Q96EE3.
    CleanExi HS_SEH1L.
    Genevestigatori Q96EE3.

    Family and domain databases

    Gene3Di 2.130.10.10. 2 hits.
    InterProi IPR020472. G-protein_beta_WD-40_rep.
    IPR015943. WD40/YVTN_repeat-like_dom.
    IPR001680. WD40_repeat.
    IPR017986. WD40_repeat_dom.
    [Graphical view ]
    Pfami PF00400. WD40. 5 hits.
    [Graphical view ]
    PRINTSi PR00320. GPROTEINBRPT.
    SMARTi SM00320. WD40. 5 hits.
    [Graphical view ]
    SUPFAMi SSF50978. SSF50978. 1 hit.
    PROSITEi PS50082. WD_REPEATS_2. 2 hits.
    PS50294. WD_REPEATS_REGION. 2 hits.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    1. "cDNA cloning of a human homolog of yeast SEH1 gene."
      Pan H., Yu Y., Shen L., Huo K.-K., Li Y.-Y.
      Submitted (APR-2000) to the EMBL/GenBank/DDBJ databases
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS A AND B).
      Tissue: Liver.
    2. "Proteomic analysis of the mammalian nuclear pore complex."
      Cronshaw J.M., Krutchinsky A.N., Zhang W., Chait B.T., Matunis M.J.
      J. Cell Biol. 158:915-927(2002) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM A).
    3. "A novel gene expressed in human adrenal gland."
      Li Y., Gu Y., Peng Y., Fu S., Gu J., Zhang L., Jiang C., Yu Y., Han Z., Wang Y., Chen Z., Fu G.
      Submitted (JAN-2001) to the EMBL/GenBank/DDBJ databases
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM A), VARIANT ASN-342.
      Tissue: Adrenal gland.
    4. "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 B), VARIANT ASN-342.
      Tissue: Skeletal muscle.
    5. "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 A).
      Tissue: Eye.
    6. "The entire Nup107-160 complex, including three new members, is targeted as one entity to kinetochores in mitosis."
      Loieodice I., Alves A., Rabut G., Van Overbeek M., Ellenberg J., Sibarita J.-B., Doye V.
      Mol. Biol. Cell 15:3333-3344(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: FUNCTION, ASSOCIATION WITH THE NUP107-160 COMPLEX, SUBCELLULAR LOCATION.
    7. "The human Nup107-160 nuclear pore subcomplex contributes to proper kinetochore functions."
      Zuccolo M., Alves A., Galy V., Bolhy S., Formstecher E., Racine V., Sibarita J.-B., Fukagawa T., Shiekhattar R., Yen T., Doye V.
      EMBO J. 26:1853-1864(2007) [PubMed] [Europe PMC] [Abstract]
      Cited for: FUNCTION, SUBCELLULAR LOCATION.
    8. "Cell-cycle-dependent phosphorylation of the nuclear pore Nup107-160 subcomplex."
      Glavy J.S., Krutchinsky A.N., Cristea I.M., Berke I.C., Boehmer T., Blobel G., Chait B.T.
      Proc. Natl. Acad. Sci. U.S.A. 104:3811-3816(2007) [PubMed] [Europe PMC] [Abstract]
      Cited for: IDENTIFICATION BY MASS SPECTROMETRY, IDENTIFICATION IN THE NUP107-160 COMPLEX.
    9. Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-365 (ISOFORM B), IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
      Tissue: Cervix carcinoma.
    10. "A Tumor suppressor complex with GAP activity for the Rag GTPases that signal amino acid sufficiency to mTORC1."
      Bar-Peled L., Chantranupong L., Cherniack A.D., Chen W.W., Ottina K.A., Grabiner B.C., Spear E.D., Carter S.L., Meyerson M., Sabatini D.M.
      Science 340:1100-1106(2013) [PubMed] [Europe PMC] [Abstract]
      Cited for: FUNCTION, IDENTIFICATION IN GATOR COMPLEX, INTERACTION WITH RRAG PROTEINS.

    Entry informationi

    Entry nameiSEH1_HUMAN
    AccessioniPrimary (citable) accession number: Q96EE3
    Secondary accession number(s): A8K5B1
    , Q8NFU6, Q96MH3, Q9C069
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: March 28, 2003
    Last sequence update: September 1, 2009
    Last modified: October 1, 2014
    This is version 117 of the entry and version 3 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 18
      Human chromosome 18: 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