UniProtKB - Q53GS7 (GLE1_HUMAN)

BLAST

>sp|Q53GS7|GLE1_HUMAN Nucleoporin GLE1 OS=Homo sapiens OX=9606 GN=GLE1 PE=1 SV=2
MPSEGRCWETLKALRSSDKGRLCYYRDWLLRREDVLEECMSLPKLSSYSGWVVEHVLPHM
QENQPLSETSPSSTSASALDQPSFVPKSPDASSAFSPASPATPNGTKGKDESQHTESMVL
QSSRGIKVEGCVRMYELVHRMKGTEGLRLWQEEQERKVQALSEMASEQLKRFDEWKELKQ
HKEFQDLREVMEKSSREALGHQEKLKAEHRHRAKILNLKLREAEQQRVKQAEQERLRKEE
GQIRLRALYALQEEMLQLSQQLDASEQHKALLKVDLAAFQTRGNQLCSLISGIIRASSES
SYPTAESQAEAERALREMRDLLMNLGQEITRACEDKRRQDEEEAQVKLQEAQMQQGPEAH
KEPPAPSQGPGGKQNEDLQVKVQDITMQWYQQLQDASMQCVLTFEGLTNSKDSQAKKIKM
DLQKAATIPVSQISTIAGSKLKEIFDKIHSLLSGKPVQSGGRSVSVTLNPQGLDFVQYKL
AEKFVKQGEEEVASHHEAAFPIAVVASGIWELHPRVGDLILAHLHKKCPYSVPFYPTFKE
GMALEDYQRMLGYQVKDSKVEQQDNFLKRMSGMIRLYAAIIQLRWPYGNRQEIHPHGLNH
GWRWLAQILNMEPLSDVTATLLFDFLEVCGNALMKQYQVQFWKMLILIKEDYFPRIEAIT
SSGQMGSFIRLKQFLEKCLQHKDIPVPKGFLTSSFWRS

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History
Entry version 127 (10 Oct 2018)
Sequence version 2 (06 Dec 2005)
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Protein

Nucleoporin GLE1

Gene

GLE1

Organism

Homo sapiens (Human)

Status

Reviewed-Annotation score: -Experimental evidence at protein levelⁱ

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

GO - Molecular functionⁱ

identical protein binding
Source: IntAct
Inferred from physical interactionⁱ
- 24243016
inositol hexakisphosphate binding Source: GO_Central
phospholipid binding Source: GO_Central
translation initiation factor binding Source: GO_Central

View the complete GO annotation on QuickGO ...

GO - Biological processⁱ

mRNA export from nucleus
Source: ProtInc
Traceable author statementⁱ
- 9618489
poly(A)+ mRNA export from nucleus Source: InterPro
regulation of translational initiation Source: GO_Central
regulation of translational termination Source: GO_Central

View the complete GO annotation on QuickGO ...

Keywordsⁱ

Biological process	mRNA transport, Protein transport, Translocation, Transport

Biological process

mRNA transport, Protein transport, Translocation, Transport

Enzyme and pathway databases

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

Reactomeⁱ

R-HSA-159236 Transport of Mature mRNA derived from an Intron-Containing Transcript

Protein family/group databases

TCDBⁱ	1.I.1.1.3 the eukaryotic nuclear pore complex (e-npc) family 3.A.18.1.1 the nuclear mrna exporter (mrna-e) family

TCDBⁱ

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

Names & Taxonomyⁱ

Protein namesⁱ	Recommended name: Nucleoporin GLE1 Short name: hGLE1 Alternative name(s): GLE1-like protein
Gene namesⁱ	Name:GLE1 Synonyms:GLE1L
Organismⁱ	Homo sapiens (Human)
Taxonomic identifierⁱ	9606 [NCBI]
Taxonomic lineageⁱ	cellular organisms › Eukaryota › Opisthokonta › Metazoa › Eumetazoa › Bilateria › Deuterostomia › Chordata › Craniata › Vertebrata › Gnathostomata › Teleostomi › Euteleostomi › Sarcopterygii › Dipnotetrapodomorpha › Tetrapoda › Amniota › Mammalia › Theria › Eutheria › Boreoeutheria › Euarchontoglires › Primates › Haplorrhini › Simiiformes › Catarrhini › Hominoidea › Hominidae › Homininae › Homo
Proteomesⁱ	UP000005640 Componentⁱ: Chromosome 9

Organism-specific databases

EuPathDBⁱ	HostDB:ENSG00000119392.14
Human Gene Nomenclature Database More...HGNCⁱ	HGNC:4315 GLE1
MIMⁱ	603371 gene
neXtProtⁱ	NX_Q53GS7

Keywords - Cellular componentⁱ

Cytoplasm, Nuclear pore complex, Nucleus

Pathology & Biotechⁱ

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.

Feature key	Position(s)	DescriptionActions	Graphical view	Length
Natural variantⁱVAR_043874	144	T → TPFQ in LCCS1; allele Fin(Major); does not affect subcellular localization. 1 Publication		1
Natural variantⁱVAR_043875	569	R → H in LCCS1. 1 PublicationCorresponds to variant dbSNP:rs121434407EnsemblClinVar.		1

Lethal arthrogryposis with anterior horn cell disease (LAAHD)1 Publication

The disease is caused by mutations affecting the gene represented in this entry.

Disease descriptionA 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.

Feature key	Position(s)	DescriptionActions	Graphical view	Length
Natural variantⁱVAR_043876	617	V → M in LAAHD. 1 PublicationCorresponds to variant dbSNP:rs121434408EnsemblClinVar.		1
Natural variantⁱVAR_043877	684	I → T in LAAHD. 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
MIMⁱ	253310 phenotype 611890 phenotype
Open Targets More...OpenTargetsⁱ	ENSG00000119392
Orphanetⁱ	53696 Lethal arthrogryposis - anterior horn cell disease 1486 Lethal congenital contracture syndrome type 1
PharmGKBⁱ	PA28718

Polymorphism and mutation databases

BioMutaⁱ	GLE1
DMDMⁱ	83288218

PTM / Processingⁱ

Molecule processing

Feature key	Position(s)	DescriptionActions	Graphical view	Length
ChainⁱPRO_0000204822	1 – 698	Nucleoporin GLE1Add BLAST		698

Amino acid modifications

Feature key	Position(s)	DescriptionActions	Length
Modified residueⁱ	41	PhosphoserineCombined sources	1
Modified residueⁱ	88	PhosphoserineCombined sources	1
Modified residueⁱ	99	PhosphoserineCombined sources	1

Keywords - PTMⁱ

Phosphoprotein

Proteomic databases

EPDⁱ	Q53GS7
MaxQB - The MaxQuant DataBase More...MaxQBⁱ	Q53GS7
PaxDbⁱ	Q53GS7
PeptideAtlas More...PeptideAtlasⁱ	Q53GS7
PRIDEⁱ	Q53GS7
ProteomicsDBⁱ	62487 62488 [Q53GS7-2]

PTM databases

iPTMnetⁱ	Q53GS7
PhosphoSitePlusⁱ	Q53GS7

Expressionⁱ

Gene expression databases

Bgeeⁱ	ENSG00000119392 Expressed in 211 organ(s), highest expression level in female gonad
CleanExⁱ	HS_GLE1
Genevisibleⁱ	Q53GS7 HS

Organism-specific databases

Human Protein Atlas More...HPAⁱ	HPA041689 HPA043538 HPA061560

HPAⁱ

HPA041689
HPA043538
HPA061560

Interactionⁱ

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 NUPL2. Isoform 2 does not interact with NUPL2. Able to form a heterotrimer with NUP155 and NUPL2 in vitro.2 Publications

Binary interactionsⁱ

With	Entry	#Exp.	IntAct	Notes
itself		5	EBI-1955541,EBI-1955541
EIF3F	O00303	2	EBI-1955541,EBI-711990

GO - Molecular functionⁱ

identical protein binding
Source: IntAct
Inferred from physical interactionⁱ
- 24243016
translation initiation factor binding Source: GO_Central

View the complete GO annotation on QuickGO ...

Protein-protein interaction databases

BioGridⁱ	108995, 28 interactors
CORUMⁱ	Q53GS7
IntActⁱ	Q53GS7, 13 interactors
STRINGⁱ	9606.ENSP00000308622

Structureⁱ

Secondary structure

Legend: HelixTurnBeta strandPDB Structure known for this area

Feature key	Position(s)	DescriptionActions	Length
Helixⁱ	385 – 403	Combined sources	19
Turnⁱ	404 – 407	Combined sources	4
Helixⁱ	413 – 424	Combined sources	12
Turnⁱ	425 – 427	Combined sources	3
Helixⁱ	428 – 431	Combined sources	4
Helixⁱ	438 – 453	Combined sources	16
Beta strandⁱ	460 – 464	Combined sources	5
Helixⁱ	466 – 468	Combined sources	3
Helixⁱ	470 – 490	Combined sources	21
Turnⁱ	491 – 494	Combined sources	4
Helixⁱ	496 – 498	Combined sources	3
Helixⁱ	499 – 512	Combined sources	14
Helixⁱ	514 – 527	Combined sources	14
Helixⁱ	529 – 531	Combined sources	3
Beta strandⁱ	540 – 542	Combined sources	3
Helixⁱ	544 – 550	Combined sources	7
Helixⁱ	564 – 580	Combined sources	17
Helixⁱ	599 – 609	Combined sources	11
Helixⁱ	617 – 636	Combined sources	20
Helixⁱ	638 – 648	Combined sources	11
Turnⁱ	649 – 651	Combined sources	3
Helixⁱ	652 – 659	Combined sources	8
Helixⁱ	662 – 664	Combined sources	3
Helixⁱ	666 – 681	Combined sources	16
Helixⁱ	693 – 697	Combined sources	5

Show more details

3D structure databases

ProteinModelPortalⁱ	Q53GS7
SMRⁱ	Q53GS7
ModBaseⁱ	Search...
MobiDBⁱ	Search...

Family & Domainsⁱ

Region

Feature key	Position(s)	DescriptionActions	Length
Regionⁱ	1 – 29	Interaction with NUP155Add BLAST	29
Regionⁱ	444 – 483	Mediates the shuttling between the nucleus and the cytoplasmAdd BLAST	40
Regionⁱ	656 – 698	Interaction with NUPL21 PublicationAdd BLAST	43

Coiled coil

Feature key	Position(s)	DescriptionActions	Graphical view	Length
Coiled coilⁱ	151 – 277	Sequence analysisAdd BLAST		127
Coiled coilⁱ	305 – 356	Sequence analysisAdd BLAST		52

Sequence similaritiesⁱ

Belongs to the GLE1 family.Curated

Keywords - Domainⁱ

Coiled coil

Phylogenomic databases

eggNOGⁱ	KOG2412 Eukaryota ENOG410XT57 LUCA
Ensembl GeneTree More...GeneTreeⁱ	ENSGT00390000012903
HOGENOMⁱ	HOG000246966
HOVERGENⁱ	HBG081558
InParanoidⁱ	Q53GS7
KEGG Orthology (KO) More...KOⁱ	K18723
OMAⁱ	FWKLLPD
Database of Orthologous Groups More...OrthoDBⁱ	EOG091G0AZV
PhylomeDBⁱ	Q53GS7
TreeFamⁱ	TF324158

Family and domain databases

Gene3Dⁱ	1.25.40.510, 1 hit
InterProⁱ	View protein in InterPro IPR012476 GLE1 IPR038506 GLE1-like_sf
PANTHERⁱ	PTHR12960 PTHR12960, 1 hit
Pfam protein domain database More...Pfamⁱ	View protein in Pfam PF07817 GLE1, 1 hit

Sequences (2)ⁱ

Sequence statusⁱ: Complete.

This entry describes 2 isoformsⁱ produced by alternative splicing. Align Add to basket

Isoform 1 (identifier: Q53GS7-1) [UniParc]FASTA Add to basket

Also known as: hGle1B

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.

« 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

Checksum:ⁱF9FC04683BCCDBB2

Isoform 2 (identifier: Q53GS7-2) [UniParc]FASTA Add 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.

« 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 

DYFPRYQAC

Show »

Length:659

Mass (Da):75,407

Checksum:ⁱC97A3FFE7E7581B5

Experimental Info

Feature key	Position(s)	DescriptionActions	Length
Sequence conflictⁱ	83	S → P in BAD96574 (Ref. 2) Curated	1
Sequence conflictⁱ	172	F → S in BAD96562 (Ref. 2) Curated	1
Sequence conflictⁱ	549	R → G in BAD96562 (Ref. 2) Curated	1

Natural variant

Feature key	Position(s)	DescriptionActions	Length
Natural variantⁱVAR_024056	130	G → D1 PublicationCorresponds to variant dbSNP:rs17852725Ensembl.	1
Natural variantⁱVAR_043874	144	T → TPFQ in LCCS1; allele Fin(Major); does not affect subcellular localization. 1 Publication	1
Natural variantⁱVAR_024057	243	I → V. Corresponds to variant dbSNP:rs2275260EnsemblClinVar.	1
Natural variantⁱVAR_043875	569	R → H in LCCS1. 1 PublicationCorresponds to variant dbSNP:rs121434407EnsemblClinVar.	1
Natural variantⁱVAR_024058	590	R → Q1 PublicationCorresponds to variant dbSNP:rs17856852Ensembl.	1
Natural variantⁱVAR_043876	617	V → M in LAAHD. 1 PublicationCorresponds to variant dbSNP:rs121434408EnsemblClinVar.	1
Natural variantⁱVAR_043877	684	I → T in LAAHD. 1 PublicationCorresponds to variant dbSNP:rs121434409EnsemblClinVar.	1

Alternative sequence

Feature key	Position(s)	DescriptionActions	Graphical view	Length
Alternative sequenceⁱVSP_016486	656 – 659	IEAI → YQAC in isoform 2. 2 Publications		4
Alternative sequenceⁱVSP_016487	660 – 698	Missing in isoform 2. 2 PublicationsAdd BLAST		39

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
The Consensus CDS (CCDS) project More...CCDSⁱ	CCDS35154.1 [Q53GS7-1] CCDS6904.1 [Q53GS7-2]
PIRⁱ	T17316
NCBI Reference Sequences More...RefSeqⁱ	NP_001003722.1, NM_001003722.1 [Q53GS7-1] NP_001490.1, NM_001499.2 [Q53GS7-2]
UniGeneⁱ	Hs.522418

Genome annotation databases

Ensemblⁱ	ENST00000309971; ENSP00000308622; ENSG00000119392 [Q53GS7-1] ENST00000372770; ENSP00000361856; ENSG00000119392 [Q53GS7-2]
GeneIDⁱ	2733
KEGGⁱ	hsa:2733
UCSC genome browser More...UCSCⁱ	uc004bvi.4 human [Q53GS7-1]

Keywords - Coding sequence diversityⁱ

Alternative splicing, Polymorphism

Similar proteinsⁱ

90% Identity
50% Identity

Protein	Similar proteins		Species	Score	Length	Source
Q53GS7	Nucleoporin GLE1		PONAB		698	UniRef90_Q53GS7
GLE1, RNA export mediator		MACMU		698
Uncharacterized protein		MACFA		698
GLE1, RNA export mediator		CALJA		698
GLE1, RNA export mediator		SAIBB		698
+39

Protein	Similar proteins		Species	Score	Length	Source
Q53GS7	Nucleoporin GLE1		PONAB		698	UniRef50_Q53GS7
Nucleoporin GLE1		BOVIN		698
Nucleoporin GLE1		RAT		698
Nucleoporin GLE1		MOUSE		699
GLE1, RNA export mediator		CALJA		698
+372

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
CCDSⁱ	CCDS35154.1 [Q53GS7-1] CCDS6904.1 [Q53GS7-2]
PIRⁱ	T17316
RefSeqⁱ	NP_001003722.1, NM_001003722.1 [Q53GS7-1] NP_001490.1, NM_001499.2 [Q53GS7-2]
UniGeneⁱ	Hs.522418

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 entry	Method	Resolution (Å)	Chain	Positions	PDBsum
	6B4F	X-ray	2.81	A/B	382-698	[»]
	6B4I	X-ray	3.62	A/B	382-698	[»]
	6B4J	X-ray	3.40	A/B	382-698	[»]
ProteinModelPortalⁱ	Q53GS7
SMRⁱ	Q53GS7
ModBaseⁱ	Search...
MobiDBⁱ	Search...

Protein-protein interaction databases

BioGridⁱ	108995, 28 interactors
CORUMⁱ	Q53GS7
IntActⁱ	Q53GS7, 13 interactors
STRINGⁱ	9606.ENSP00000308622

Protein family/group databases

TCDBⁱ	1.I.1.1.3 the eukaryotic nuclear pore complex (e-npc) family 3.A.18.1.1 the nuclear mrna exporter (mrna-e) family

TCDBⁱ

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

PTM databases

iPTMnetⁱ	Q53GS7
PhosphoSitePlusⁱ	Q53GS7

Polymorphism and mutation databases

BioMutaⁱ	GLE1
DMDMⁱ	83288218

Proteomic databases

EPDⁱ	Q53GS7
MaxQBⁱ	Q53GS7
PaxDbⁱ	Q53GS7
PeptideAtlasⁱ	Q53GS7
PRIDEⁱ	Q53GS7
ProteomicsDBⁱ	62487 62488 [Q53GS7-2]

Protocols and materials databases

The DNASU plasmid repository More...DNASUⁱ	2733
Structural Biology Knowledgebase	Search...

Genome annotation databases

Ensemblⁱ	ENST00000309971; ENSP00000308622; ENSG00000119392 [Q53GS7-1] ENST00000372770; ENSP00000361856; ENSG00000119392 [Q53GS7-2]
GeneIDⁱ	2733
KEGGⁱ	hsa:2733
UCSCⁱ	uc004bvi.4 human [Q53GS7-1]

Organism-specific databases

CTDⁱ	2733
DisGeNETⁱ	2733
EuPathDBⁱ	HostDB:ENSG00000119392.14
GeneCardsⁱ	GLE1
HGNCⁱ	HGNC:4315 GLE1
HPAⁱ	HPA041689 HPA043538 HPA061560
MalaCardsⁱ	GLE1
MIMⁱ	253310 phenotype 603371 gene 611890 phenotype
neXtProtⁱ	NX_Q53GS7
OpenTargetsⁱ	ENSG00000119392
Orphanetⁱ	53696 Lethal arthrogryposis - anterior horn cell disease 1486 Lethal congenital contracture syndrome type 1
PharmGKBⁱ	PA28718
GenAtlas: human gene database More...GenAtlasⁱ	Search...

Phylogenomic databases

eggNOGⁱ	KOG2412 Eukaryota ENOG410XT57 LUCA
GeneTreeⁱ	ENSGT00390000012903
HOGENOMⁱ	HOG000246966
HOVERGENⁱ	HBG081558
InParanoidⁱ	Q53GS7
KOⁱ	K18723
OMAⁱ	FWKLLPD
OrthoDBⁱ	EOG091G0AZV
PhylomeDBⁱ	Q53GS7
TreeFamⁱ	TF324158

Enzyme and pathway databases

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

Reactomeⁱ

R-HSA-159236 Transport of Mature mRNA derived from an Intron-Containing Transcript

Miscellaneous databases

ChiTaRSⁱ	GLE1 human
GeneWikiⁱ	GLE1L
GenomeRNAiⁱ	2733
Protein Ontology More...PROⁱ	PR:Q53GS7
SOURCEⁱ	Search...

Gene expression databases

Bgeeⁱ	ENSG00000119392 Expressed in 211 organ(s), highest expression level in female gonad
CleanExⁱ	HS_GLE1
Genevisibleⁱ	Q53GS7 HS

Family and domain databases

Gene3Dⁱ	1.25.40.510, 1 hit
InterProⁱ	View protein in InterPro IPR012476 GLE1 IPR038506 GLE1-like_sf
PANTHERⁱ	PTHR12960 PTHR12960, 1 hit
Pfamⁱ	View protein in Pfam PF07817 GLE1, 1 hit
ProtoNetⁱ	Search...

Entry informationⁱ

Entry nameⁱ	GLE1_HUMAN
Accessionⁱ	Q53GS7Primary (citable) accession number: Q53GS7 Secondary accession number(s): O75458 , Q53GT9, Q5VVU1, Q8NCP6, Q9UFL6
Entry historyⁱ	Integrated into UniProtKB/Swiss-Prot:	December 6, 2005
	Last sequence update:	December 6, 2005
	Last modified:	October 10, 2018
	This is version 127 of the entry and version 2 of the sequence. See complete history.
Entry statusⁱ	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.

Miscellaneousⁱ

Keywords - Technical termⁱ

3D-structure, Complete proteome, Reference proteome

Documents

Human chromosome 9
Human chromosome 9: entries, gene names and cross-references to MIM
Human entries with polymorphisms or disease mutations
List of human entries with polymorphisms or disease mutations
SIMILARITY comments
Index of protein domains and families
PDB cross-references
Index of Protein Data Bank (PDB) cross-references
Human polymorphisms and disease mutations
Index of human polymorphisms and disease mutations
MIM cross-references
Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

UniProtKB

UniParc

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UniRef

Proteomes

Annotation systems

Supporting data

UniProtKB - Q53GS7 (GLE1_HUMAN)

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Nucleoporin GLE1

GLE1

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<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

<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

GO - Biological processi

Enzyme and pathway databases

Protein family/group databases

<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

Organism-specific databases

<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

Nucleus

Other locations

Nucleus

Other locations

Cytosol

Extracellular region or secreted

Nucleus

Other locations

Keywords - Cellular componenti

<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

Keywords - Diseasei

Organism-specific databases

Polymorphism and mutation databases

<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

Amino acid modifications

Keywords - PTMi

Proteomic databases

PTM databases

<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

Organism-specific databases

<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

GO - Molecular functioni

Protein-protein interaction databases

<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

3D structure databases

<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

Coiled coil

<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

Keywords - Domaini

Phylogenomic databases

Family and domain databases

Experimental Info

Natural variant

Alternative sequence

Sequence databases

Genome annotation databases

Keywords - Coding sequence diversityi

<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

3D structure databases

Protein-protein interaction databases

Protein family/group databases

PTM databases

Polymorphism and mutation databases

Proteomic databases

Protocols and materials databases

Genome annotation databases

Organism-specific databases

Phylogenomic databases

Enzyme and pathway databases

Miscellaneous databases

Gene expression databases

Family and domain databases

<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 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

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Functionⁱ

GO - Molecular functionⁱ

GO - Biological processⁱ

Names & Taxonomyⁱ

Subcellular locationⁱ

Keywords - Cellular componentⁱ

Pathology & Biotechⁱ

Keywords - Diseaseⁱ

PTM / Processingⁱ

Keywords - PTMⁱ

Expressionⁱ

Interactionⁱ

GO - Molecular functionⁱ

Structureⁱ

Family & Domainsⁱ

Sequence similaritiesⁱ

Keywords - Domainⁱ

Keywords - Coding sequence diversityⁱ

Cross-referencesⁱ

Entry informationⁱ

Miscellaneousⁱ

Keywords - Technical termⁱ