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UniProtKB - Q53GS7 (GLE1_HUMAN)

Entry version 141 (12 Aug 2020)
Sequence version 2 (06 Dec 2005)
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Protein

Nucleoporin GLE1

Gene

GLE1

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

Required for the export of mRNAs containing poly(A) tails from the nucleus into the cytoplasm. May be involved in the terminal step of the mRNA transport through the nuclear pore complex (NPC).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 processmRNA transport, Protein transport, Translocation, Transport

Enzyme and pathway databases

Pathway Commons web resource for biological pathway data

More...PathwayCommonsi		Q53GS7

Reactome - a knowledgebase of biological pathways and processes

More...Reactomei		R-HSA-159236, Transport of Mature mRNA derived from an Intron-Containing Transcript

Protein family/group databases

Transport Classification Database

More...TCDBi		1.I.1.1.3, the nuclear pore complex (npc) family
3.A.18.1.1, the nuclear mrna exporter (mrna-e) 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%5Fand%5Ftaxonomy%5Fsection">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 GLE1
Short name:
hGLE1
Alternative name(s):
GLE1-like protein
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">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:GLE1
Synonyms:GLE1L
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">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%5Fand%5Ftaxonomy%5Fsection">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%5Fand%5Ftaxonomy%5Fsection">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%5Fand%5Ftaxonomy%5Fsection">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%5Fmanual">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 9

Organism-specific databases

Eukaryotic Pathogen Database Resources

More...EuPathDBi		HostDB:ENSG00000119392.14

Human Gene Nomenclature Database

More...HGNCi		HGNC:4315, GLE1

Online Mendelian Inheritance in Man (OMIM)

More...MIMi		603371, gene

neXtProt; the human protein knowledge platform

More...neXtProti		NX_Q53GS7

<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

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte & Seán O’Donoghue; Source: COMPARTMENTS

Keywords - Cellular componenti

Cytoplasm, 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

<p>This subsection of the 'Pathology and Biotech' section provides information on the disease(s) associated with genetic variations in a given protein. The information is extracted from the scientific literature and diseases that are also described in the <a href="http://www.ncbi.nlm.nih.gov/sites/entrez?db=omim">OMIM</a> database are represented with a <a href="http://www.uniprot.org/diseases">controlled vocabulary</a> in the following way:<p><a href='/help/involvement_in_disease' target='_top'>More...</a></p>Involvement in diseasei

Lethal congenital contracture syndrome 1 (LCCS1)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA form of lethal congenital contracture syndrome, an autosomal recessive disorder characterized by degeneration of anterior horn neurons, extreme skeletal muscle atrophy, and congenital non-progressive joint contractures (arthrogryposis). The contractures can involve the upper or lower limbs and/or the vertebral column, leading to various degrees of flexion or extension limitations evident at birth. LCCS1 patients manifest early fetal hydrops and akinesia, micrognathia, pulmonary hypoplasia, pterygia, and multiple joint contractures. It leads to prenatal death.
Related information in OMIM
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_043874144T → TPFQ in LCCS1; allele Fin(Major); does not affect subcellular localization. 1 Publication1
Natural variantiVAR_043875569R → H in LCCS1. 1 PublicationCorresponds to variant dbSNP:rs121434407EnsemblClinVar.1
Congenital arthrogryposis with anterior horn cell disease (CAAHD)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionAn autosomal recessive disorder characterized by fetal akinesia, arthrogryposis and motor neuron loss. The fetus often survives delivery, but dies early as a result of respiratory failure. Neuropathological findings resemble those of lethal congenital contracture syndrome type 1, but are less severe.
Related information in OMIM
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_043876617V → M in CAAHD. 1 PublicationCorresponds to variant dbSNP:rs121434408EnsemblClinVar.1
Natural variantiVAR_043877684I → T in CAAHD. 1 PublicationCorresponds to variant dbSNP:rs121434409EnsemblClinVar.1

Keywords - Diseasei

Disease mutation

Organism-specific databases

DisGeNET

More...DisGeNETi		2733

MalaCards human disease database

More...MalaCardsi		GLE1
MIMi253310, phenotype
611890, phenotype

Open Targets

More...OpenTargetsi		ENSG00000119392

Orphanet; a database dedicated to information on rare diseases and orphan drugs

More...Orphaneti		803, Amyotrophic lateral sclerosis
53696, Lethal arthrogryposis-anterior horn cell disease syndrome
1486, Lethal congenital contracture syndrome type 1

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...PharmGKBi		PA28718

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...Pharosi		Q53GS7, Tbio

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...BioMutai		GLE1

Domain mapping of disease mutations (DMDM)

More...DMDMi		83288218

<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_00002048221 – 698Nucleoporin GLE1Add BLAST698

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<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 residuei41PhosphoserineCombined sources1
Modified residuei88PhosphoserineCombined sources1
Modified residuei99PhosphoserineCombined sources1

Keywords - PTMi

Phosphoprotein

Proteomic databases

Encyclopedia of Proteome Dynamics

More...EPDi		Q53GS7

jPOST - Japan Proteome Standard Repository/Database

More...jPOSTi		Q53GS7

MassIVE - Mass Spectrometry Interactive Virtual Environment

More...MassIVEi		Q53GS7

MaxQB - The MaxQuant DataBase

More...MaxQBi		Q53GS7

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

More...PaxDbi		Q53GS7

PeptideAtlas

More...PeptideAtlasi		Q53GS7

PRoteomics IDEntifications database

More...PRIDEi		Q53GS7

ProteomicsDB: a multi-organism proteome resource

More...ProteomicsDBi		62487 [Q53GS7-1]
62488 [Q53GS7-2]

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...iPTMneti		Q53GS7

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

More...PhosphoSitePlusi		Q53GS7

<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		ENSG00000119392, Expressed in female gonad and 227 other tissues

Genevisible search portal to normalized and curated expression data from Genevestigator

More...Genevisiblei		Q53GS7, HS

Organism-specific databases

Human Protein Atlas

More...HPAi		ENSG00000119392, 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%5Fsection">'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%5Fsection">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>Subunit structurei

Associated with the NPC, it however may not be a stable component of the NPC complex since it shuttles between the nucleus and the cytoplasm.

Interacts with nuclear pore complex proteins NUP155 and NUP42. Isoform 2 does not interact with NUP42. Able to form a heterotrimer with NUP155 and NUP42 in vitro.

2 Publications

<p>This subsection of the '<a href="http://www.uniprot.org/help/interaction%5Fsection">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

GO - Molecular functioni

Complete GO annotation on QuickGO ...

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGRID)

More...BioGRIDi		108995, 34 interactors

ComplexPortal: manually curated resource of macromolecular complexes

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

CORUM comprehensive resource of mammalian protein complexes

More...CORUMi		Q53GS7

Protein interaction database and analysis system

More...IntActi		Q53GS7, 20 interactors

STRING: functional protein association networks

More...STRINGi		9606.ENSP00000308622

Miscellaneous databases

RNAct, Protein-RNA interaction predictions for model organisms.

More...RNActi		Q53GS7, 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

Secondary structure

1698
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details

3D structure databases

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

More...SMRi		Q53GS7

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

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>Regioni1 – 29Interaction with NUP155Add BLAST29
Regioni444 – 483Mediates the shuttling between the nucleus and the cytoplasmAdd BLAST40
Regioni656 – 698Interaction with NUP421 PublicationAdd BLAST43

Coiled coil

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Family and domains' section denotes the positions of regions of coiled coil within the protein.<p><a href='/help/coiled' target='_top'>More...</a></p>Coiled coili151 – 277Sequence analysisAdd BLAST127
Coiled coili305 – 356Sequence analysisAdd BLAST52

<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 GLE1 family.Curated

Keywords - Domaini

Coiled coil

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...eggNOGi		KOG2412, Eukaryota

Ensembl GeneTree

More...GeneTreei		ENSGT00390000012903

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...HOGENOMi		CLU_024662_1_0_1

InParanoid: Eukaryotic Ortholog Groups

More...InParanoidi		Q53GS7

KEGG Orthology (KO)

More...KOi		K18723

Identification of Orthologs from Complete Genome Data

More...OMAi		FWKLLPD

Database of Orthologous Groups

More...OrthoDBi		379050at2759

Database for complete collections of gene phylogenies

More...PhylomeDBi		Q53GS7

TreeFam database of animal gene trees

More...TreeFami		TF324158

Family and domain databases

Gene3D Structural and Functional Annotation of Protein Families

More...Gene3Di		1.25.40.510, 1 hit

Integrated resource of protein families, domains and functional sites

More...InterProi		View protein in InterPro
IPR012476, GLE1
IPR038506, GLE1-like_sf

The PANTHER Classification System

More...PANTHERi		PTHR12960, PTHR12960, 1 hit

Pfam protein domain database

More...Pfami		View protein in Pfam
PF07817, GLE1, 1 hit

<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%5Flength">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%5Fsection">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">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. This section is only present in reviewed entries, i.e. in UniProtKB/Swiss-Prot.<p><a href='/help/alternative_products' target='_top'>More...</a></p> isoformsi produced by alternative splicing. AlignAdd to basket
Isoform 1 (identifier: Q53GS7-1) [UniParc]FASTAAdd to basket
Also known as: hGle1B

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
MPSEGRCWET LKALRSSDKG RLCYYRDWLL RREDVLEECM SLPKLSSYSG 
        60         70         80         90        100
WVVEHVLPHM QENQPLSETS PSSTSASALD QPSFVPKSPD ASSAFSPASP 
       110        120        130        140        150
ATPNGTKGKD ESQHTESMVL QSSRGIKVEG CVRMYELVHR MKGTEGLRLW 
       160        170        180        190        200
QEEQERKVQA LSEMASEQLK RFDEWKELKQ HKEFQDLREV MEKSSREALG 
       210        220        230        240        250
HQEKLKAEHR HRAKILNLKL REAEQQRVKQ AEQERLRKEE GQIRLRALYA 
       260        270        280        290        300
LQEEMLQLSQ QLDASEQHKA LLKVDLAAFQ TRGNQLCSLI SGIIRASSES 
       310        320        330        340        350
SYPTAESQAE AERALREMRD LLMNLGQEIT RACEDKRRQD EEEAQVKLQE 
       360        370        380        390        400
AQMQQGPEAH KEPPAPSQGP GGKQNEDLQV KVQDITMQWY QQLQDASMQC 
       410        420        430        440        450
VLTFEGLTNS KDSQAKKIKM DLQKAATIPV SQISTIAGSK LKEIFDKIHS 
       460        470        480        490        500
LLSGKPVQSG GRSVSVTLNP QGLDFVQYKL AEKFVKQGEE EVASHHEAAF 
       510        520        530        540        550
PIAVVASGIW ELHPRVGDLI LAHLHKKCPY SVPFYPTFKE GMALEDYQRM 
       560        570        580        590        600
LGYQVKDSKV EQQDNFLKRM SGMIRLYAAI IQLRWPYGNR QEIHPHGLNH 
       610        620        630        640        650
GWRWLAQILN MEPLSDVTAT LLFDFLEVCG NALMKQYQVQ FWKMLILIKE 
       660        670        680        690 
DYFPRIEAIT SSGQMGSFIR LKQFLEKCLQ HKDIPVPKGF LTSSFWRS
Note: Major isoform.
Length:698
Mass (Da):79,836
Last modified:December 6, 2005 - v2
<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:iF9FC04683BCCDBB2
GO
Isoform 2 (identifier: Q53GS7-2) [UniParc]FASTAAdd to basket
Also known as: hGle1A

The sequence of this isoform differs from the canonical sequence as follows:
     656-659: IEAI → YQAC
     660-698: Missing.

Show »
Length:659
Mass (Da):75,407
Checksum:iC97A3FFE7E7581B5
GO

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 conflicti83S → P in BAD96574 (Ref. 2) Curated1
Sequence conflicti172F → S in BAD96562 (Ref. 2) Curated1
Sequence conflicti549R → G in BAD96562 (Ref. 2) Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_024056130G → D1 PublicationCorresponds to variant dbSNP:rs17852725Ensembl.1
Natural variantiVAR_043874144T → TPFQ in LCCS1; allele Fin(Major); does not affect subcellular localization. 1 Publication1
Natural variantiVAR_024057243I → V. Corresponds to variant dbSNP:rs2275260EnsemblClinVar.1
Natural variantiVAR_043875569R → H in LCCS1. 1 PublicationCorresponds to variant dbSNP:rs121434407EnsemblClinVar.1
Natural variantiVAR_024058590R → Q1 PublicationCorresponds to variant dbSNP:rs17856852Ensembl.1
Natural variantiVAR_043876617V → M in CAAHD. 1 PublicationCorresponds to variant dbSNP:rs121434408EnsemblClinVar.1
Natural variantiVAR_043877684I → T in CAAHD. 1 PublicationCorresponds to variant dbSNP:rs121434409EnsemblClinVar.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_016486656 – 659IEAI → YQAC in isoform 2. 2 Publications4
Alternative sequenceiVSP_016487660 – 698Missing in isoform 2. 2 PublicationsAdd BLAST39

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
AF058922 mRNA Translation: AAC25561.1
AK222842 mRNA Translation: BAD96562.1
AK222854 mRNA Translation: BAD96574.1
AL445287 Genomic DNA No translation available.
AL356481 Genomic DNA No translation available.
BC030012 mRNA Translation: AAH30012.1
AL117584 mRNA Translation: CAB56006.1

The Consensus CDS (CCDS) project

More...CCDSi		CCDS35154.1 [Q53GS7-1]
CCDS6904.1 [Q53GS7-2]

Protein sequence database of the Protein Information Resource

More...PIRi		T17316

NCBI Reference Sequences

More...RefSeqi		NP_001003722.1, NM_001003722.1 [Q53GS7-1]
NP_001490.1, NM_001499.2 [Q53GS7-2]

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...Ensembli		ENST00000309971; ENSP00000308622; ENSG00000119392 [Q53GS7-1]
ENST00000372770; ENSP00000361856; ENSG00000119392 [Q53GS7-2]

Database of genes from NCBI RefSeq genomes

More...GeneIDi		2733

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...KEGGi		hsa:2733

UCSC genome browser

More...UCSCi		uc004bvi.4, human [Q53GS7-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

<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
AF058922 mRNA Translation: AAC25561.1
AK222842 mRNA Translation: BAD96562.1
AK222854 mRNA Translation: BAD96574.1
AL445287 Genomic DNA No translation available.
AL356481 Genomic DNA No translation available.
BC030012 mRNA Translation: AAH30012.1
AL117584 mRNA Translation: CAB56006.1
CCDSiCCDS35154.1 [Q53GS7-1]
CCDS6904.1 [Q53GS7-2]
PIRiT17316
RefSeqiNP_001003722.1, NM_001003722.1 [Q53GS7-1]
NP_001490.1, NM_001499.2 [Q53GS7-2]

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
6B4FX-ray2.81A/B382-698[»]
6B4IX-ray3.62A/B382-698[»]
6B4JX-ray3.40A/B382-698[»]
SMRiQ53GS7
ModBaseiSearch...
PDBe-KBiSearch...

Protein-protein interaction databases

BioGRIDi108995, 34 interactors
ComplexPortaliCPX-873, Nuclear pore complex
CORUMiQ53GS7
IntActiQ53GS7, 20 interactors
STRINGi9606.ENSP00000308622

Protein family/group databases

TCDBi1.I.1.1.3, the nuclear pore complex (npc) family
3.A.18.1.1, the nuclear mrna exporter (mrna-e) family

PTM databases

iPTMnetiQ53GS7
PhosphoSitePlusiQ53GS7

Polymorphism and mutation databases

BioMutaiGLE1
DMDMi83288218

Proteomic databases

EPDiQ53GS7
jPOSTiQ53GS7
MassIVEiQ53GS7
MaxQBiQ53GS7
PaxDbiQ53GS7
PeptideAtlasiQ53GS7
PRIDEiQ53GS7
ProteomicsDBi62487 [Q53GS7-1]
62488 [Q53GS7-2]

Protocols and materials databases

Antibodypedia a portal for validated antibodies

More...Antibodypediai		31163, 202 antibodies

The DNASU plasmid repository

More...DNASUi		2733

Genome annotation databases

EnsembliENST00000309971; ENSP00000308622; ENSG00000119392 [Q53GS7-1]
ENST00000372770; ENSP00000361856; ENSG00000119392 [Q53GS7-2]
GeneIDi2733
KEGGihsa:2733
UCSCiuc004bvi.4, human [Q53GS7-1]

Organism-specific databases

Comparative Toxicogenomics Database

More...CTDi		2733
DisGeNETi2733
EuPathDBiHostDB:ENSG00000119392.14

GeneCards: human genes, protein and diseases

More...GeneCardsi		GLE1
HGNCiHGNC:4315, GLE1
HPAiENSG00000119392, Low tissue specificity
MalaCardsiGLE1
MIMi253310, phenotype
603371, gene
611890, phenotype
neXtProtiNX_Q53GS7
OpenTargetsiENSG00000119392
Orphaneti803, Amyotrophic lateral sclerosis
53696, Lethal arthrogryposis-anterior horn cell disease syndrome
1486, Lethal congenital contracture syndrome type 1
PharmGKBiPA28718

GenAtlas: human gene database

More...GenAtlasi		Search...

Phylogenomic databases

eggNOGiKOG2412, Eukaryota
GeneTreeiENSGT00390000012903
HOGENOMiCLU_024662_1_0_1
InParanoidiQ53GS7
KOiK18723
OMAiFWKLLPD
OrthoDBi379050at2759
PhylomeDBiQ53GS7
TreeFamiTF324158

Enzyme and pathway databases

PathwayCommonsiQ53GS7
ReactomeiR-HSA-159236, Transport of Mature mRNA derived from an Intron-Containing Transcript

Miscellaneous databases

BioGRID ORCS database of CRISPR phenotype screens

More...BioGRID-ORCSi		2733, 453 hits in 875 CRISPR screens

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

More...ChiTaRSi		GLE1, human

The Gene Wiki collection of pages on human genes and proteins

More...GeneWikii		GLE1L

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

More...GenomeRNAii		2733
PharosiQ53GS7, Tbio

Protein Ontology

More...PROi		PR:Q53GS7
RNActiQ53GS7, protein

The Stanford Online Universal Resource for Clones and ESTs

More...SOURCEi		Search...

Gene expression databases

BgeeiENSG00000119392, Expressed in female gonad and 227 other tissues
GenevisibleiQ53GS7, HS

Family and domain databases

Gene3Di1.25.40.510, 1 hit
InterProiView protein in InterPro
IPR012476, GLE1
IPR038506, GLE1-like_sf
PANTHERiPTHR12960, PTHR12960, 1 hit
PfamiView protein in Pfam
PF07817, GLE1, 1 hit

ProtoNet; Automatic hierarchical classification of proteins

More...ProtoNeti		Search...

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 nameiGLE1_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: Q53GS7
Secondary accession number(s): O75458
, Q53GT9, Q5VVU1, Q8NCP6, Q9UFL6
<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%5Fand%5Fisoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: December 6, 2005
Last sequence update: December 6, 2005
Last modified: August 12, 2020
This is version 141 of the entry and version 2 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 entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  2. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  3. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  4. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  5. SIMILARITY comments
    Index of protein domains and families
  6. Human chromosome 9
    Human chromosome 9: entries, gene names and cross-references to MIM
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