Q96EE3 (SEH1_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
Nucleoporin SEH1

Alternative name(s):
Nup107-160 subcomplex subunit SEH1
SEC13-like protein

Gene names

Name:	SEH1L
Synonyms:	SEC13L, SEH1

Organism

Homo sapiens (Human) [Reference proteome]

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

cellular organisms › Eukaryota › Opisthokonta › Metazoa › Eumetazoa › Bilateria › Deuterostomia › Chordata › Craniata › Vertebrata › Gnathostomata › Teleostomi › Euteleostomi › Sarcopterygii › Tetrapoda › Amniota › Mammalia › Theria › Eutheria › Euarchontoglires › Primates › Haplorrhini › Simiiformes › Catarrhini › Hominoidea › Hominidae › Homininae › Homo

Protein attributes

Sequence length	360 AA.
Sequence status	Complete.
Protein existence	Evidence 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. 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. Ref.8
Subcellular location	Chromosome › centromere › kinetochore. Nucleus › nuclear pore complex Ref.6 Ref.7.
Sequence similarities	Belongs to the WD repeat SEC13 family. Contains 6 WD repeats.

Ontologies

Keywords
Biological process	Cell cycle Cell division Chromosome partition Mitosis Protein transport Translocation Transport mRNA transport
Cellular component	Centromere Chromosome Kinetochore Nuclear pore complex Nucleus
Coding sequence diversity	Alternative splicing Polymorphism
Domain	Repeat WD repeat
PTM	Phosphoprotein
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Biological_process	attachment 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 cell division Inferred from electronic annotation. Source: UniProtKB-KW cytokine-mediated signaling pathway Traceable author statement. Source: Reactome glucose transport Traceable author statement. Source: Reactome mRNA transport Inferred from electronic annotation. Source: UniProtKB-KW mitotic metaphase plate congression Inferred from mutant phenotype Ref.7. Source: UniProtKB mitotic prometaphase 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 reproduction Traceable author statement. Source: Reactome
Cellular_component	condensed chromosome kinetochore Inferred from electronic annotation. Source: UniProtKB-SubCell cytosol 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 key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 360	360	Nucleoporin SEH1		PRO_0000051213
Regions
	Repeat	10 – 49	40	WD 1
	Repeat	55 – 96	42	WD 2
	Repeat	111 – 152	42	WD 3
	Repeat	160 – 210	51	WD 4
	Repeat	217 – 258	42	WD 5
	Repeat	276 – 315	40	WD 6
Natural variations
	Alternative sequence	358 – 360	3	KHS → YFFTPLDSPRAGSRWSSYAQ LLPPPPPPLVEHSCDADTAN LQYPHPRRRYLSRPLNPLPE NEGI in isoform B.		VSP_037954
	Natural variant	342	1	T → N. Ref.3 Ref.4 Corresponds to variant rs6505776 [ dbSNP | Ensembl ].		VAR_053417
Experimental info
	Sequence conflict	78	1	S → P in BAB71317. Ref.4

Sequences

	Sequence		Length	Mass (Da)
	Isoform A (SEH1A) [UniParc]. Last modified September 1, 2009. Version 3. Checksum: FB9ED2440C4EC9AB	FASTA	360	39,649
	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
	Isoform B (SEH1B) [UniParc]. Checksum: 0662C6681BB6CE68	FASTA	421	46,578
	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 NGSSAGRYFF 370 380 390 400 410 420 TPLDSPRAGS RWSSYAQLLP PPPPPLVEHS CDADTANLQY PHPRRRYLSR PLNPLPENEG I

References

	« Hide 'large scale' referencesShow '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. , 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), MASS SPECTROMETRY. Tissue: Cervix carcinoma.
+	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.
IPI	IPI00185533. IPI00220609.
RefSeq	NP_001013455.1. NM_001013437.1. NP_112493.2. NM_031216.3.
UniGene	Hs.301048.
3D structure databases
ProteinModelPortal	Q96EE3.
ModBase	Search...
Protein-protein interaction databases
IntAct	Q96EE3. 9 interactions.
STRING	9606.ENSP00000382779.
Polymorphism databases
DMDM	257051064.
Proteomic databases
PaxDb	Q96EE3.
PRIDE	Q96EE3.
Protocols and materials databases
DNASU	81929.
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000262124; ENSP00000262124; ENSG00000085415. ENST00000399892; ENSP00000382779; ENSG00000085415.
GeneID	81929.
KEGG	hsa:81929.
UCSC	uc002krq.3. human. uc002krr.3. human.
Organism-specific databases
CTD	81929.
GeneCards	GC18P012947.
HGNC	HGNC:30379. SEH1L.
HPA	HPA039964.
MIM	609263. gene.
neXtProt	NX_Q96EE3.
PharmGKB	PA134912135.
GenAtlas	Search...
Phylogenomic databases
eggNOG	COG2319.
HOGENOM	HOG000216896.
InParanoid	Q96EE3.
KO	K14299.
OMA	YEAPDIM.
OrthoDB	EOG4DJJWR.
PhylomeDB	Q96EE3.
Enzyme and pathway databases
Reactome	REACT_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.
Gene expression databases
Bgee	Q96EE3.
CleanEx	HS_SEH1L.
Genevestigator	Q96EE3.
GermOnline	ENSG00000085415. Homo sapiens.
Family and domain databases
Gene3D	2.130.10.10. 2 hits.
InterPro	IPR020472. G-protein_beta_WD-40_rep. IPR015943. WD40/YVTN_repeat-like_dom. IPR001680. WD40_repeat. IPR017986. WD40_repeat_dom. [Graphical view]
Pfam	PF00400. WD40. 5 hits. [Graphical view]
PRINTS	PR00320. GPROTEINBRPT.
SMART	SM00320. WD40. 5 hits. [Graphical view]
SUPFAM	SSF50978. WD40_like. 1 hit.
PROSITE	PS00678. WD_REPEATS_1. False negative. PS50082. WD_REPEATS_2. 2 hits. PS50294. WD_REPEATS_REGION. 2 hits. [Graphical view]
ProtoNet	Search...
Other
ChiTaRS	SEH1L. human.
GenomeRNAi	81929.
NextBio	72265.
SOURCE	Search...

Entry information

Entry name

SEH1_HUMAN

Accession

Primary (citable) accession number: Q96EE3
Secondary accession number(s): A8K5B1 , Q8NFU6, Q96MH3, Q9C069

Entry history

Integrated into UniProtKB/Swiss-Prot:	March 28, 2003
Last sequence update:	September 1, 2009
Last modified:	May 1, 2013
This is version 104 of the entry and version 3 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation program

Chordata Protein Annotation Program

Disclaimer

Any 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.