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Q96EE3

- SEH1_HUMAN

UniProt

Q96EE3 - SEH1_HUMAN

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Protein

Nucleoporin SEH1

Gene

SEH1L

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

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. cytokine production involved in inflammatory response Source: Ensembl
  5. defense response to Gram-positive bacterium Source: Ensembl
  6. glucose transport Source: Reactome
  7. hexose transport Source: Reactome
  8. mitotic cell cycle Source: Reactome
  9. mitotic metaphase plate congression Source: UniProtKB
  10. mitotic nuclear envelope disassembly Source: Reactome
  11. mRNA transport Source: UniProtKB-KW
  12. nuclear pore organization Source: UniProtKB
  13. protein transport Source: UniProtKB-KW
  14. regulation of glucose transport Source: Reactome
  15. small molecule metabolic process Source: Reactome
  16. transmembrane transport Source: Reactome
  17. viral process Source: Reactome
Complete GO annotation...

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. cytosol Source: Reactome
  2. kinetochore Source: UniProtKB-KW
  3. nuclear envelope Source: Reactome
  4. nuclear pore outer ring Source: UniProtKB
Complete GO annotation...

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

BgeeiQ96EE3.
CleanExiHS_SEH1L.
ExpressionAtlasiQ96EE3. baseline and differential.
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. 30 interactions.
IntActiQ96EE3. 13 interactions.
MINTiMINT-3052384.
STRINGi9606.ENSP00000382779.

Structurei

3D structure databases

ProteinModelPortaliQ96EE3.
SMRiQ96EE3. Positions 11-328.
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.
GeneTreeiENSGT00550000074999.
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

        10         20         30         40         50
MFVARSIAAD HKDLIHDVSF DFHGRRMATC SSDQSVKVWD KSESGDWHCT
60 70 80 90 100
ASWKTHSGSV WRVTWAHPEF GQVLASCSFD RTAAVWEEIV GESNDKLRGQ
110 120 130 140 150
SHWVKRTTLV DSRTSVTDVK FAPKHMGLML ATCSADGIVR IYEAPDVMNL
160 170 180 190 200
SQWSLQHEIS CKLSCSCISW NPSSSRAHSP MIAVGSDDSS PNAMAKVQIF
210 220 230 240 250
EYNENTRKYA KAETLMTVTD PVHDIAFAPN LGRSFHILAI ATKDVRIFTL
260 270 280 290 300
KPVRKELTSS GGPTKFEIHI VAQFDNHNSQ VWRVSWNITG TVLASSGDDG
310 320 330 340 350
CVRLWKANYM DNWKCTGILK GNGSPVNGSS QQGTSNPSLG STIPSLQNSL
360
NGSSAGRKHS
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 11-328.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 123629. 30 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.
GeneTreei ENSGT00550000074999.
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

Bgeei Q96EE3.
CleanExi HS_SEH1L.
ExpressionAtlasi Q96EE3. baseline and differential.
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

« Hide 'large scale' publications
  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 29, 2014
This is version 118 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