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Q96EE3 (SEH1_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified April 16, 2014. Version 113. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (5) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Nucleoporin SEH1
Alternative name(s):
Nup107-160 subcomplex subunit SEH1
SEC13-like protein
Gene names
Name:SEH1L
Synonyms:SEC13L, SEH1
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length360 AA.
Sequence statusComplete.
Protein existenceEvidence at protein level

General annotation (Comments)

Function

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. Ref.6 Ref.7 Ref.10

Subunit structure

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. Ref.8 Ref.10

Subcellular location

Chromosomecentromerekinetochore. Nucleusnuclear pore complex Ref.6 Ref.7.

Sequence similarities

Belongs to the WD repeat SEC13 family.

Contains 6 WD repeats.

Ontologies

Keywords
   Biological processCell cycle
Cell division
Chromosome partition
Mitosis
mRNA transport
Protein transport
Translocation
Transport
   Cellular componentCentromere
Chromosome
Kinetochore
Nuclear pore complex
Nucleus
   Coding sequence diversityAlternative splicing
Polymorphism
   DomainRepeat
WD repeat
   PTMPhosphoprotein
   Technical termComplete proteome
Reference proteome
Gene Ontology (GO)
   Biological_processattachment of spindle microtubules to kinetochore involved in mitotic sister chromatid segregation

Inferred from mutant phenotype Ref.7. Source: UniProtKB

carbohydrate metabolic process

Traceable author statement. Source: Reactome

cytokine-mediated signaling pathway

Traceable author statement. Source: Reactome

glucose transport

Traceable author statement. Source: Reactome

hexose transport

Traceable author statement. Source: Reactome

mRNA transport

Inferred from electronic annotation. Source: UniProtKB-KW

mitotic cell cycle

Traceable author statement. Source: Reactome

mitotic metaphase plate congression

Inferred from mutant phenotype Ref.7. Source: UniProtKB

mitotic nuclear envelope disassembly

Traceable author statement. Source: Reactome

nuclear pore organization

Inferred from mutant phenotype Ref.6. Source: UniProtKB

protein transport

Inferred from electronic annotation. Source: UniProtKB-KW

regulation of glucose transport

Traceable author statement. Source: Reactome

small molecule metabolic process

Traceable author statement. Source: Reactome

transmembrane transport

Traceable author statement. Source: Reactome

viral process

Traceable author statement. Source: Reactome

   Cellular_componentcondensed chromosome kinetochore

Inferred from electronic annotation. Source: UniProtKB-SubCell

cytosol

Traceable author statement. Source: Reactome

nuclear envelope

Traceable author statement. Source: Reactome

nuclear pore outer ring

Inferred from direct assay Ref.8. Source: UniProtKB

Complete GO annotation...

Alternative products

This entry describes 2 isoforms produced by alternative splicing. [Align] [Select]
Isoform A (identifier: Q96EE3-2)

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.
Isoform B (identifier: Q96EE3-1)

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.

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 360360Nucleoporin SEH1
PRO_0000051213

Regions

Repeat10 – 4940WD 1
Repeat55 – 9642WD 2
Repeat111 – 15242WD 3
Repeat160 – 21051WD 4
Repeat217 – 25842WD 5
Repeat276 – 31540WD 6

Natural variations

Alternative sequence358 – 3603KHS → YFFTPLDSPRAGSRWSSYAQ LLPPPPPPLVEHSCDADTAN LQYPHPRRRYLSRPLNPLPE NEGI in isoform B.
VSP_037954
Natural variant3421T → N. Ref.3 Ref.4
Corresponds to variant rs6505776 [ dbSNP | Ensembl ].
VAR_053417

Experimental info

Sequence conflict781S → P in BAB71317. Ref.4

Sequences

Sequence LengthMass (Da)Tools
Isoform A (SEH1A) [UniParc].

Last modified September 1, 2009. Version 3.
Checksum: FB9ED2440C4EC9AB

FASTA36039,649
        10         20         30         40         50         60 
MFVARSIAAD HKDLIHDVSF DFHGRRMATC SSDQSVKVWD KSESGDWHCT ASWKTHSGSV 

        70         80         90        100        110        120 
WRVTWAHPEF GQVLASCSFD RTAAVWEEIV GESNDKLRGQ SHWVKRTTLV DSRTSVTDVK 

       130        140        150        160        170        180 
FAPKHMGLML ATCSADGIVR IYEAPDVMNL SQWSLQHEIS CKLSCSCISW NPSSSRAHSP 

       190        200        210        220        230        240 
MIAVGSDDSS PNAMAKVQIF EYNENTRKYA KAETLMTVTD PVHDIAFAPN LGRSFHILAI 

       250        260        270        280        290        300 
ATKDVRIFTL KPVRKELTSS GGPTKFEIHI VAQFDNHNSQ VWRVSWNITG TVLASSGDDG 

       310        320        330        340        350        360 
CVRLWKANYM DNWKCTGILK GNGSPVNGSS QQGTSNPSLG STIPSLQNSL NGSSAGRKHS 

« Hide

Isoform B (SEH1B) [UniParc].

Checksum: 0662C6681BB6CE68
Show »

FASTA42146,578

References

« Hide 'large scale' references
[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. expand/collapse author list , 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]"A quantitative atlas of mitotic phosphorylation."
Dephoure N., Zhou C., Villen J., Beausoleil S.A., Bakalarski C.E., Elledge S.J., Gygi S.P.
Proc. Natl. Acad. Sci. U.S.A. 105:10762-10767(2008) [PubMed] [Europe PMC] [Abstract]
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.
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
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.
RefSeqNP_001013455.1. NM_001013437.1.
NP_112493.2. NM_031216.3.
UniGeneHs.301048.

3D structure databases

ProteinModelPortalQ96EE3.
SMRQ96EE3. Positions 11-319.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid123629. 22 interactions.
IntActQ96EE3. 13 interactions.
MINTMINT-3052384.
STRING9606.ENSP00000382779.

Polymorphism databases

DMDM257051064.

Proteomic databases

PaxDbQ96EE3.
PRIDEQ96EE3.

Protocols and materials databases

DNASU81929.
StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000262124; ENSP00000262124; ENSG00000085415. [Q96EE3-2]
ENST00000399892; ENSP00000382779; ENSG00000085415. [Q96EE3-1]
GeneID81929.
KEGGhsa:81929.
UCSCuc002krq.3. human. [Q96EE3-1]
uc002krr.3. human. [Q96EE3-2]

Organism-specific databases

CTD81929.
GeneCardsGC18P012947.
HGNCHGNC:30379. SEH1L.
HPAHPA039964.
MIM609263. gene.
neXtProtNX_Q96EE3.
PharmGKBPA134912135.
GenAtlasSearch...

Phylogenomic databases

eggNOGCOG2319.
HOGENOMHOG000216896.
InParanoidQ96EE3.
KOK14299.
OMAYEAPDIM.
PhylomeDBQ96EE3.
TreeFamTF105924.

Enzyme and pathway databases

ReactomeREACT_111217. Metabolism.
REACT_115566. Cell Cycle.
REACT_116125. Disease.
REACT_15518. Transmembrane transport of small molecules.
REACT_21300. Mitotic M-M/G1 phases.
REACT_6900. Immune System.
SignaLinkQ96EE3.

Gene expression databases

ArrayExpressQ96EE3.
BgeeQ96EE3.
CleanExHS_SEH1L.
GenevestigatorQ96EE3.

Family and domain databases

Gene3D2.130.10.10. 2 hits.
InterProIPR020472. G-protein_beta_WD-40_rep.
IPR015943. WD40/YVTN_repeat-like_dom.
IPR001680. WD40_repeat.
IPR017986. WD40_repeat_dom.
[Graphical view]
PfamPF00400. WD40. 5 hits.
[Graphical view]
PRINTSPR00320. GPROTEINBRPT.
SMARTSM00320. WD40. 5 hits.
[Graphical view]
SUPFAMSSF50978. SSF50978. 1 hit.
PROSITEPS50082. WD_REPEATS_2. 2 hits.
PS50294. WD_REPEATS_REGION. 2 hits.
[Graphical view]
ProtoNetSearch...

Other

ChiTaRSSEH1L. human.
GenomeRNAi81929.
NextBio72265.
PROQ96EE3.
SOURCESearch...

Entry information

Entry nameSEH1_HUMAN
AccessionPrimary (citable) accession number: Q96EE3
Secondary accession number(s): A8K5B1 expand/collapse secondary AC list , Q8NFU6, Q96MH3, Q9C069
Entry history
Integrated into UniProtKB/Swiss-Prot: March 28, 2003
Last sequence update: September 1, 2009
Last modified: April 16, 2014
This is version 113 of the entry and version 3 of the sequence. [Complete history]
Entry statusReviewed (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.

Relevant documents

SIMILARITY comments

Index of protein domains and families

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 18

Human chromosome 18: entries, gene names and cross-references to MIM