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Reviewed, UniProtKB/Swiss-Prot Q96EE3 (SEH1_HUMAN)

Last modified January 19, 2010. Version 78. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (5) | Third-party data | Customize display text xml rdf/xml gff fasta
Names and origin · Protein attributes · General annotation (Comments) · Ontologies · Alternative products · Sequence annotation (Features) · Sequences · References · Cross-references · Entry information · Relevant documents

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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) [Complete proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo

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Protein attributes

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

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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. Ref.6 Ref.7

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.

Subcellular location

Kinetochore. Nucleus › nuclear pore complex Ref.6 Ref.7.

Sequence similarities

Belongs to the WD repeat SEC13 family.

Contains 6 WD repeats.

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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: Phosphorylated at Ser-365.

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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: dbSNP rs6505776. Ref.3 Ref.4
VAR_053417

Experimental info

Sequence conflict781S → P in BAB71317. Ref.4

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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).

Checksum: 0662C6681BB6CE68
Show »

FASTA42146,578

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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: 12196509] [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: 14702039] [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: 15489334] [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: 15146057] [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: 17363900] [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: 17360435] [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: 18669648] [Abstract]
Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-365 (ISOFORM B), MASS SPECTROMETRY.
+Additional computationally mapped references.

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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.
IPIIPI00185533.
IPI00220609.
RefSeqNP_001013455.1.
NP_112493.2.
UniGeneHs.301048

3D structure databases

ModBaseSearch...

Protein-protein interaction databases

STRINGQ96EE3.

PTM databases

PhosphoSiteQ96EE3.

Proteomic databases

PRIDEQ96EE3.

Genome annotation databases

EnsemblENST00000262124; ENSP00000262124; ENSG00000085415; Homo sapiens. [Genome view]
ENST00000399892; ENSP00000382779; ENSG00000085415; Homo sapiens. [Genome view]
GeneID81929.
KEGGhsa:81929.
UCSCuc002krq.1. human.
uc002krr.1. human.

Organism-specific databases

CTD81929.
GeneCardsGC18P012939.
HGNCHGNC:30379. SEH1L.
MIM609263. gene.
PharmGKBPA134912135.
GenAtlasSearch...

Phylogenomic databases

eggNOGprNOG06826.
HOVERGENQ96EE3.
InParanoidQ96EE3.
OMASWAHPEF.
OrthoDBEOG9JMB8P.
PhylomeDBQ96EE3.

Enzyme and pathway databases

ReactomeREACT_152. Cell Cycle, Mitotic.
REACT_6185. HIV Infection.

Gene expression databases

ArrayExpressQ96EE3.
BgeeQ96EE3.
CleanExHS_SEH1L.
GenevestigatorQ96EE3.
GermOnlineENSG00000085415. Homo sapiens.

Family and domain databases

InterProIPR020472. G-protein_beta_WD-40_rep_reg.
IPR015943. WD40/YVTN_repeat-like_dom.
IPR001680. WD40_repeat.
IPR011046. WD40_repeat-like_dom.
IPR019782. WD40_repeat_2.
IPR017986. WD40_repeat_dom.
IPR019781. WD40_repeat_sg.
[Graphical view]
Gene3DG3DSA:2.130.10.10. WD40/YVTN_repeat-like. 1 hit.
PfamPF00400. WD40. 5 hits.
[Graphical view]
PRINTSPR00320. GPROTEINBRPT.
SMARTSM00320. WD40. 5 hits.
[Graphical view]
PROSITEPS00678. WD_REPEATS_1. False negative.
PS50082. WD_REPEATS_2. 2 hits.
PS50294. WD_REPEATS_REGION. 2 hits.
[Graphical view]
ProtoNetSearch...

Other Resources

NextBio72265.
SOURCESearch...

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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: January 19, 2010
This is version 78 of the entry and version 3 of the sequence. [Complete history]
Entry statusReviewed (UniProtKB/Swiss-Prot)
Annotation projectHPI (Human Proteome Initiative)
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.

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

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Index of human polymorphisms and disease mutations

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SIMILARITY comments

Index of protein domains and families

Names and origin · Protein attributes · General annotation (Comments) · Ontologies · Alternative products · Sequence annotation (Features) · Sequences · References · Cross-references · Entry information · Relevant documents