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UniProtKB - Q96EE3 (SEH1_HUMAN)

Entry version 182 (29 Sep 2021)
Sequence version 3 (01 Sep 2009)
Previous versions | rss
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Protein

Nucleoporin SEH1

Gene

SEH1L

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score:

Annotation score:5 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>-Experimental evidence at protein leveli <p>This indicates the type of evidence that supports the existence of the protein. Note that the 'protein existence' evidence does not give information on the accuracy or correctness of the sequence(s) displayed.<p><a href='/help/protein_existence' target='_top'>More...</a></p>

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>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.

2 Publications

As a component of the GATOR subcomplex GATOR2, functions within the amino acid-sensing branch of the TORC1 signaling pathway. Indirectly activates mTORC1 and the TORC1 signaling pathway through the inhibition of the GATOR1 subcomplex (PubMed:23723238).

It is negatively regulated by the upstream amino acid sensors SESN2 and CASTOR1 (PubMed:25457612, PubMed:27487210).

3 Publications

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Molecular functioni

Complete GO annotation on QuickGO ...

GO - Biological processi

Complete GO annotation on QuickGO ...

<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywordsi

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

Enzyme and pathway databases

Pathway Commons web resource for biological pathway data

More...PathwayCommonsi		Q96EE3

Reactome - a knowledgebase of biological pathways and processes

More...Reactomei		R-HSA-1169408, ISG15 antiviral mechanism
R-HSA-141444, Amplification of signal from unattached kinetochores via a MAD2 inhibitory signal [Q96EE3-1]
R-HSA-159227, Transport of the SLBP independent Mature mRNA
R-HSA-159230, Transport of the SLBP Dependant Mature mRNA
R-HSA-159231, Transport of Mature mRNA Derived from an Intronless Transcript
R-HSA-159236, Transport of Mature mRNA derived from an Intron-Containing Transcript
R-HSA-165054, Rev-mediated nuclear export of HIV RNA
R-HSA-168271, Transport of Ribonucleoproteins into the Host Nucleus
R-HSA-168276, NS1 Mediated Effects on Host Pathways
R-HSA-168325, Viral Messenger RNA Synthesis
R-HSA-168333, NEP/NS2 Interacts with the Cellular Export Machinery
R-HSA-170822, Regulation of Glucokinase by Glucokinase Regulatory Protein
R-HSA-180746, Nuclear import of Rev protein
R-HSA-180910, Vpr-mediated nuclear import of PICs
R-HSA-191859, snRNP Assembly
R-HSA-2467813, Separation of Sister Chromatids [Q96EE3-1]
R-HSA-2500257, Resolution of Sister Chromatid Cohesion [Q96EE3-1]
R-HSA-3108214, SUMOylation of DNA damage response and repair proteins
R-HSA-3232142, SUMOylation of ubiquitinylation proteins
R-HSA-3301854, Nuclear Pore Complex (NPC) Disassembly
R-HSA-3371453, Regulation of HSF1-mediated heat shock response
R-HSA-4085377, SUMOylation of SUMOylation proteins
R-HSA-4551638, SUMOylation of chromatin organization proteins
R-HSA-4570464, SUMOylation of RNA binding proteins
R-HSA-4615885, SUMOylation of DNA replication proteins
R-HSA-5578749, Transcriptional regulation by small RNAs
R-HSA-5619107, Defective TPR may confer susceptibility towards thyroid papillary carcinoma (TPC)
R-HSA-5663220, RHO GTPases Activate Formins [Q96EE3-1]
R-HSA-6784531, tRNA processing in the nucleus
R-HSA-68877, Mitotic Prometaphase [Q96EE3-1]
R-HSA-9609690, HCMV Early Events
R-HSA-9610379, HCMV Late Events
R-HSA-9615933, Postmitotic nuclear pore complex (NPC) reformation [Q96EE3-1]
R-HSA-9639288, Amino acids regulate mTORC1
R-HSA-9648025, EML4 and NUDC in mitotic spindle formation [Q96EE3-1]

SignaLink: a signaling pathway resource with multi-layered regulatory networks

More...SignaLinki		Q96EE3

SIGNOR Signaling Network Open Resource

More...SIGNORi		Q96EE3

Protein family/group databases

Transport Classification Database

More...TCDBi		1.I.1.1.3, the nuclear pore complex (npc) family

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>Protein namesi
Recommended name:
Nucleoporin SEH1Curated
Alternative name(s):
GATOR complex protein SEH1Curated
Nup107-160 subcomplex subunit SEH1
SEC13-like protein
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: 'Name', 'Synonyms', 'Ordered locus names' and 'ORF names'.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi
Name:SEH1L
Synonyms:SEC13L, SEH1
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the 'taxonomic identifier' or 'taxid'.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes_manual">proteome</a> can consist of several components.<br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome 18

Organism-specific databases

Human Gene Nomenclature Database

More...HGNCi		HGNC:30379, SEH1L

Online Mendelian Inheritance in Man (OMIM)

More...MIMi		609263, gene

neXtProt; the human protein knowledge platform

More...neXtProti		NX_Q96EE3

Eukaryotic Pathogen, Vector and Host Database Resources

More...VEuPathDBi		HostDB:ENSG00000085415

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>Subcellular locationi

Keywords - Cellular componenti

Centromere, Chromosome, Kinetochore, Lysosome, Membrane, Nuclear pore complex, Nucleus

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

Organism-specific databases

DisGeNET

More...DisGeNETi		81929

Open Targets

More...OpenTargetsi		ENSG00000085415

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...PharmGKBi		PA134912135

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...Pharosi		Q96EE3, Tbio

Genetic variation databases

BioMuta curated single-nucleotide variation and disease association database

More...BioMutai		SEH1L

Domain mapping of disease mutations (DMDM)

More...DMDMi		257051064

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'PTM / Processing' section describes the extent of a polypeptide chain in the mature protein following processing or proteolytic cleavage.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00000512131 – 360Nucleoporin SEH1Add BLAST360

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/ptm_processing_section">PTM / Processing</a> section describes <strong>covalent linkages</strong> of various types formed <strong>between two proteins (interchain cross-links)</strong> or <strong>between two parts of the same protein (intrachain cross-links)</strong>, except the disulfide bonds that are annotated in the <a href="http://www.uniprot.org/manual/disulfid">'Disulfide bond'</a> subsection.<p><a href='/help/crosslnk' target='_top'>More...</a></p>Cross-linki12Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources
<p>This subsection of the 'PTM / Processing' section specifies the position and type of each modified residue excluding <a href="http://www.uniprot.org/manual/lipid">lipids</a>, <a href="http://www.uniprot.org/manual/carbohyd">glycans</a> and <a href="http://www.uniprot.org/manual/crosslnk">protein cross-links</a>.<p><a href='/help/mod_res' target='_top'>More...</a></p>Modified residuei179PhosphoserineCombined sources1
Modified residuei190PhosphoserineCombined sources1
Isoform B (identifier: Q96EE3-1)
Modified residuei365PhosphoserineCombined sources1

Keywords - PTMi

Isopeptide bond, Phosphoprotein, Ubl conjugation

Proteomic databases

Encyclopedia of Proteome Dynamics

More...EPDi		Q96EE3

jPOST - Japan Proteome Standard Repository/Database

More...jPOSTi		Q96EE3

MassIVE - Mass Spectrometry Interactive Virtual Environment

More...MassIVEi		Q96EE3

PaxDb, a database of protein abundance averages across all three domains of life

More...PaxDbi		Q96EE3

PeptideAtlas

More...PeptideAtlasi		Q96EE3

PRoteomics IDEntifications database

More...PRIDEi		Q96EE3

ProteomicsDB: a multi-organism proteome resource

More...ProteomicsDBi		76398 [Q96EE3-2]
76399 [Q96EE3-1]

PTM databases

GlyGen: Computational and Informatics Resources for Glycoscience

More...GlyGeni		Q96EE3, 1 site, 1 O-linked glycan (1 site)

iPTMnet integrated resource for PTMs in systems biology context

More...iPTMneti		Q96EE3

Comprehensive resource for the study of protein post-translational modifications (PTMs) in human, mouse and rat.

More...PhosphoSitePlusi		Q96EE3

SwissPalm database of S-palmitoylation events

More...SwissPalmi		Q96EE3

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...Bgeei		ENSG00000085415, Expressed in female gonad and 239 other tissues

ExpressionAtlas, Differential and Baseline Expression

More...ExpressionAtlasi		Q96EE3, baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...Genevisiblei		Q96EE3, HS

Organism-specific databases

Human Protein Atlas

More...HPAi		ENSG00000085415, Low tissue specificity

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

<p>This subsection of the <a href="http://www.uniprot.org/help/interaction_section">'Interaction'</a> section provides information about the protein quaternary structure and interaction(s) with other proteins or protein complexes (with the exception of physiological receptor-ligand interactions which are annotated in the <a href="http://www.uniprot.org/help/function_section">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>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 (PubMed:17360435, PubMed:23723238). The GATOR2 complex interacts with CASTOR2 and CASTOR1; the interaction is negatively regulated by arginine (PubMed:26972053). The GATOR2 complex interacts with SESN1, SESN2 and SESN3; the interaction is negatively regulated by amino acids (PubMed:25263562, PubMed:25457612).

5 Publications

<p>This subsection of the '<a href="http://www.uniprot.org/help/interaction_section">Interaction</a>' section provides information about binary protein-protein interactions. The data presented in this section are a quality-filtered subset of binary interactions automatically derived from the <a href="https://www.ebi.ac.uk/intact/">IntAct database</a>. It is updated at every <a href="http://www.uniprot.org/help/synchronization">UniProt release</a>.<p><a href='/help/binary_interactions' target='_top'>More...</a></p>Binary interactionsi

Hide details

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGRID)

More...BioGRIDi		123629, 126 interactors

ComplexPortal: manually curated resource of macromolecular complexes

More...ComplexPortali		CPX-6227, GATOR2 complex
CPX-873, Nuclear pore complex

CORUM comprehensive resource of mammalian protein complexes

More...CORUMi		Q96EE3

Protein interaction database and analysis system

More...IntActi		Q96EE3, 77 interactors

Molecular INTeraction database

More...MINTi		Q96EE3

STRING: functional protein association networks

More...STRINGi		9606.ENSP00000382779

Miscellaneous databases

RNAct, Protein-RNA interaction predictions for model organisms.

More...RNActi		Q96EE3, protein

<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei

3D structure databases

SWISS-MODEL Repository - a database of annotated 3D protein structure models

More...SMRi		Q96EE3

Database of comparative protein structure models

More...ModBasei		Search...

Protein Data Bank in Europe - Knowledge Base

More...PDBe-KBi		Search...

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Family and Domains' section indicates the positions and types of repeated sequence motifs or repeated domains within the protein.<p><a href='/help/repeat' target='_top'>More...</a></p>Repeati10 – 49WD 1Add BLAST40
Repeati55 – 96WD 2Add BLAST42
Repeati111 – 152WD 3Add BLAST42
Repeati160 – 210WD 4Add BLAST51
Repeati217 – 258WD 5Add BLAST42
Repeati276 – 315WD 6Add BLAST40

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Family and Domains' section describes a region of interest that cannot be described in other subsections.<p><a href='/help/region' target='_top'>More...</a></p>Regioni324 – 360DisorderedSequence analysisAdd BLAST37

<p>This subsection of the 'Family and domains' section provides information about the sequence similarity with other proteins.<p><a href='/help/sequence_similarities' target='_top'>More...</a></p>Sequence similaritiesi

Belongs to the WD repeat SEC13 family.Curated

Keywords - Domaini

Repeat, WD repeat

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...eggNOGi		KOG2445, Eukaryota

Ensembl GeneTree

More...GeneTreei		ENSGT00940000153393

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...HOGENOMi		CLU_032441_1_2_1

InParanoid: Eukaryotic Ortholog Groups

More...InParanoidi		Q96EE3

Identification of Orthologs from Complete Genome Data

More...OMAi		NAPTRRW

Database of Orthologous Groups

More...OrthoDBi		944756at2759

Database for complete collections of gene phylogenies

More...PhylomeDBi		Q96EE3

TreeFam database of animal gene trees

More...TreeFami		TF105924

Family and domain databases

Gene3D Structural and Functional Annotation of Protein Families

More...Gene3Di		2.130.10.10, 1 hit

Integrated resource of protein families, domains and functional sites

More...InterProi		View protein in InterPro
IPR020472, G-protein_beta_WD-40_rep
IPR037597, Nucleoporin_Seh1
IPR037363, Sec13/Seh1_fam
IPR015943, WD40/YVTN_repeat-like_dom_sf
IPR001680, WD40_repeat
IPR036322, WD40_repeat_dom_sf

The PANTHER Classification System

More...PANTHERi		PTHR11024, PTHR11024, 1 hit
PTHR11024:SF3, PTHR11024:SF3, 1 hit

Pfam protein domain database

More...Pfami		View protein in Pfam
PF00400, WD40, 2 hits

Protein Motif fingerprint database; a protein domain database

More...PRINTSi		PR00320, GPROTEINBRPT

Simple Modular Architecture Research Tool; a protein domain database

More...SMARTi		View protein in SMART
SM00320, WD40, 5 hits

Superfamily database of structural and functional annotation

More...SUPFAMi		SSF50978, SSF50978, 1 hit

PROSITE; a protein domain and family database

More...PROSITEi		View protein in PROSITE
PS50082, WD_REPEATS_2, 2 hits
PS50294, WD_REPEATS_REGION, 2 hits

<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence_length">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>. The information is filed in different subsections. The current subsections and their content are listed below:<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequences (2+)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>Sequence statusi: Complete.

This entry describes 2 <p>This subsection of the 'Sequence' section lists the alternative protein sequences (isoforms) that can be generated from the same gene by a single or by the combination of up to four biological events (alternative promoter usage, alternative splicing, alternative initiation and ribosomal frameshifting). Additionally, this section gives relevant information on each alternative protein isoform.<p><a href='/help/alternative_products' target='_top'>More...</a></p> isoformsi produced by alternative splicing. AlignAdd to basket

This entry has 2 described isoforms and 4 potential isoforms that are computationally mapped.Show allAlign All

Isoform A (identifier: Q96EE3-2) [UniParc]FASTAAdd to basket
Also known as: SEH1A

This isoform has been chosen as the <div> <p><b>What is the canonical sequence?</b><p><a href='/help/canonical_and_isoforms' target='_top'>More...</a></p>canonicali 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
<p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> 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

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

<p>In eukaryotic reference proteomes, unreviewed entries that are likely to belong to the same gene are computationally mapped, based on gene identifiers from Ensembl, EnsemblGenomes and model organism databases.<p><a href='/help/gene_centric_isoform_mapping' target='_top'>More...</a></p>Computationally mapped potential isoform sequencesi

There are 4 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
K7ELV2K7ELV2_HUMAN
Nucleoporin SEH1
SEH1L
263Annotation score:

Annotation score:2 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
K7EPZ5K7EPZ5_HUMAN
Nucleoporin SEH1
SEH1L
77Annotation score:

Annotation score:2 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
K7ENI5K7ENI5_HUMAN
Nucleoporin SEH1
SEH1L
158Annotation score:

Annotation score:2 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
K7EP88K7EP88_HUMAN
Nucleoporin SEH1
SEH1L
189Annotation score:

Annotation score:2 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Sequence' section reports difference(s) between the canonical sequence (displayed by default in the entry) and the different sequence submissions merged in the entry. These various submissions may originate from different sequencing projects, different types of experiments, or different biological samples. Sequence conflicts are usually of unknown origin.<p><a href='/help/conflict' target='_top'>More...</a></p>Sequence conflicti78S → P in BAB71317 (PubMed:14702039).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Sequence' section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_053417342T → N2 PublicationsCorresponds to variant dbSNP:rs6505776Ensembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Sequence' section describes the sequence of naturally occurring alternative protein isoform(s). The changes in the amino acid sequence may be due to alternative splicing, alternative promoter usage, alternative initiation, or ribosomal frameshifting.<p><a href='/help/var_seq' target='_top'>More...</a></p>Alternative sequenceiVSP_037954358 – 360KHS → YFFTPLDSPRAGSRWSSYAQ LLPPPPPPLVEHSCDADTAN LQYPHPRRRYLSRPLNPLPE NEGI in isoform B. 2 Publications3

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

More...EMBLi

GenBank nucleotide sequence database

More...GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...DDBJi
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

The Consensus CDS (CCDS) project

More...CCDSi		CCDS32791.1 [Q96EE3-1]
CCDS45832.1 [Q96EE3-2]

NCBI Reference Sequences

More...RefSeqi		NP_001013455.1, NM_001013437.1 [Q96EE3-1]
NP_112493.2, NM_031216.3 [Q96EE3-2]

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...Ensembli		ENST00000262124; ENSP00000262124; ENSG00000085415 [Q96EE3-2]
ENST00000399892; ENSP00000382779; ENSG00000085415 [Q96EE3-1]

Database of genes from NCBI RefSeq genomes

More...GeneIDi		81929

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...KEGGi		hsa:81929

UCSC genome browser

More...UCSCi		uc002krq.5, human [Q96EE3-2]

Keywords - Coding sequence diversityi

Alternative splicing

<p>This section provides links to proteins that are similar to the protein sequence(s) described in this entry at different levels of sequence identity thresholds (100%, 90% and 50%) based on their membership in UniProt Reference Clusters (<a href="http://www.uniprot.org/help/uniref">UniRef</a>).<p><a href='/help/similar_proteins_section' target='_top'>More...</a></p>Similar proteinsi

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
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]

3D structure databases

Select the link destinations:

Protein Data Bank Europe

More...PDBei

Protein Data Bank RCSB

More...RCSB PDBi

Protein Data Bank Japan

More...PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
5A9Qelectron microscopy23.007/G/P/Y1-360[»]
SMRiQ96EE3
ModBaseiSearch...
PDBe-KBiSearch...

Protein-protein interaction databases

BioGRIDi123629, 126 interactors
ComplexPortaliCPX-6227, GATOR2 complex
CPX-873, Nuclear pore complex
CORUMiQ96EE3
IntActiQ96EE3, 77 interactors
MINTiQ96EE3
STRINGi9606.ENSP00000382779

Protein family/group databases

TCDBi1.I.1.1.3, the nuclear pore complex (npc) family

PTM databases

GlyGeniQ96EE3, 1 site, 1 O-linked glycan (1 site)
iPTMnetiQ96EE3
PhosphoSitePlusiQ96EE3
SwissPalmiQ96EE3

Genetic variation databases

BioMutaiSEH1L
DMDMi257051064

Proteomic databases

EPDiQ96EE3
jPOSTiQ96EE3
MassIVEiQ96EE3
PaxDbiQ96EE3
PeptideAtlasiQ96EE3
PRIDEiQ96EE3
ProteomicsDBi76398 [Q96EE3-2]
76399 [Q96EE3-1]

Protocols and materials databases

Antibodypedia a portal for validated antibodies

More...Antibodypediai		48526, 21 antibodies

The DNASU plasmid repository

More...DNASUi		81929

Genome annotation databases

EnsembliENST00000262124; ENSP00000262124; ENSG00000085415 [Q96EE3-2]
ENST00000399892; ENSP00000382779; ENSG00000085415 [Q96EE3-1]
GeneIDi81929
KEGGihsa:81929
UCSCiuc002krq.5, human [Q96EE3-2]

Organism-specific databases

Comparative Toxicogenomics Database

More...CTDi		81929
DisGeNETi81929

GeneCards: human genes, protein and diseases

More...GeneCardsi		SEH1L
HGNCiHGNC:30379, SEH1L
HPAiENSG00000085415, Low tissue specificity
MIMi609263, gene
neXtProtiNX_Q96EE3
OpenTargetsiENSG00000085415
PharmGKBiPA134912135
VEuPathDBiHostDB:ENSG00000085415

GenAtlas: human gene database

More...GenAtlasi		Search...

Phylogenomic databases

eggNOGiKOG2445, Eukaryota
GeneTreeiENSGT00940000153393
HOGENOMiCLU_032441_1_2_1
InParanoidiQ96EE3
OMAiNAPTRRW
OrthoDBi944756at2759
PhylomeDBiQ96EE3
TreeFamiTF105924

Enzyme and pathway databases

PathwayCommonsiQ96EE3
ReactomeiR-HSA-1169408, ISG15 antiviral mechanism
R-HSA-141444, Amplification of signal from unattached kinetochores via a MAD2 inhibitory signal [Q96EE3-1]
R-HSA-159227, Transport of the SLBP independent Mature mRNA
R-HSA-159230, Transport of the SLBP Dependant Mature mRNA
R-HSA-159231, Transport of Mature mRNA Derived from an Intronless Transcript
R-HSA-159236, Transport of Mature mRNA derived from an Intron-Containing Transcript
R-HSA-165054, Rev-mediated nuclear export of HIV RNA
R-HSA-168271, Transport of Ribonucleoproteins into the Host Nucleus
R-HSA-168276, NS1 Mediated Effects on Host Pathways
R-HSA-168325, Viral Messenger RNA Synthesis
R-HSA-168333, NEP/NS2 Interacts with the Cellular Export Machinery
R-HSA-170822, Regulation of Glucokinase by Glucokinase Regulatory Protein
R-HSA-180746, Nuclear import of Rev protein
R-HSA-180910, Vpr-mediated nuclear import of PICs
R-HSA-191859, snRNP Assembly
R-HSA-2467813, Separation of Sister Chromatids [Q96EE3-1]
R-HSA-2500257, Resolution of Sister Chromatid Cohesion [Q96EE3-1]
R-HSA-3108214, SUMOylation of DNA damage response and repair proteins
R-HSA-3232142, SUMOylation of ubiquitinylation proteins
R-HSA-3301854, Nuclear Pore Complex (NPC) Disassembly
R-HSA-3371453, Regulation of HSF1-mediated heat shock response
R-HSA-4085377, SUMOylation of SUMOylation proteins
R-HSA-4551638, SUMOylation of chromatin organization proteins
R-HSA-4570464, SUMOylation of RNA binding proteins
R-HSA-4615885, SUMOylation of DNA replication proteins
R-HSA-5578749, Transcriptional regulation by small RNAs
R-HSA-5619107, Defective TPR may confer susceptibility towards thyroid papillary carcinoma (TPC)
R-HSA-5663220, RHO GTPases Activate Formins [Q96EE3-1]
R-HSA-6784531, tRNA processing in the nucleus
R-HSA-68877, Mitotic Prometaphase [Q96EE3-1]
R-HSA-9609690, HCMV Early Events
R-HSA-9610379, HCMV Late Events
R-HSA-9615933, Postmitotic nuclear pore complex (NPC) reformation [Q96EE3-1]
R-HSA-9639288, Amino acids regulate mTORC1
R-HSA-9648025, EML4 and NUDC in mitotic spindle formation [Q96EE3-1]
SignaLinkiQ96EE3
SIGNORiQ96EE3

Miscellaneous databases

BioGRID ORCS database of CRISPR phenotype screens

More...BioGRID-ORCSi		81929, 703 hits in 1028 CRISPR screens

ChiTaRS: a database of human, mouse and fruit fly chimeric transcripts and RNA-sequencing data

More...ChiTaRSi		SEH1L, human

Database of phenotypes from RNA interference screens in Drosophila and Homo sapiens

More...GenomeRNAii		81929
PharosiQ96EE3, Tbio

Protein Ontology

More...PROi		PR:Q96EE3
RNActiQ96EE3, protein

The Stanford Online Universal Resource for Clones and ESTs

More...SOURCEi		Search...

Gene expression databases

BgeeiENSG00000085415, Expressed in female gonad and 239 other tissues
ExpressionAtlasiQ96EE3, baseline and differential
GenevisibleiQ96EE3, HS

Family and domain databases

Gene3Di2.130.10.10, 1 hit
InterProiView protein in InterPro
IPR020472, G-protein_beta_WD-40_rep
IPR037597, Nucleoporin_Seh1
IPR037363, Sec13/Seh1_fam
IPR015943, WD40/YVTN_repeat-like_dom_sf
IPR001680, WD40_repeat
IPR036322, WD40_repeat_dom_sf
PANTHERiPTHR11024, PTHR11024, 1 hit
PTHR11024:SF3, PTHR11024:SF3, 1 hit
PfamiView protein in Pfam
PF00400, WD40, 2 hits
PRINTSiPR00320, GPROTEINBRPT
SMARTiView protein in SMART
SM00320, WD40, 5 hits
SUPFAMiSSF50978, SSF50978, 1 hit
PROSITEiView protein in PROSITE
PS50082, WD_REPEATS_2, 2 hits
PS50294, WD_REPEATS_REGION, 2 hits

MobiDB: a database of protein disorder and mobility annotations

More...MobiDBi		Search...

<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

<p>This subsection of the 'Entry information' section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.<p><a href='/help/entry_name' target='_top'>More...</a></p>Entry nameiSEH1_HUMAN
<p>This subsection of the 'Entry information' section provides one or more accession number(s). These are stable identifiers and should be used to cite UniProtKB entries. Upon integration into UniProtKB, each entry is assigned a unique accession number, which is called 'Primary (citable) accession number'.<p><a href='/help/accession_numbers' target='_top'>More...</a></p>AccessioniPrimary (citable) accession number: Q96EE3
Secondary accession number(s): A8K5B1
, Q8NFU6, Q96MH3, Q9C069
<p>This subsection of the 'Entry information' section shows the date of integration of the entry into UniProtKB, the date of the last sequence update and the date of the last annotation modification ('Last modified'). The version number for both the entry and the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: March 28, 2003
Last sequence update: September 1, 2009
Last modified: September 29, 2021
This is version 182 of the entry and version 3 of the sequence. See complete history.
<p>This subsection of the 'Entry information' section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>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.

<p>This section contains any relevant information that doesn't fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>Miscellaneousi

Keywords - Technical termi

3D-structure, Reference proteome

Documents

  1. Human chromosome 18
    Human chromosome 18: entries, gene names and cross-references to MIM
  2. Human entries with genetic variants
    List of human entries with genetic variants
  3. Human variants curated from literature reports
    Index of human variants curated from literature reports
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  6. SIMILARITY comments
    Index of protein domains and families
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