Q53GS7 (GLE1_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
Nucleoporin GLE1
Short name=hGLE1

Alternative name(s):
GLE1-like protein

Gene names

Name:	GLE1
Synonyms:	GLE1L

Organism

Homo sapiens (Human) [Reference proteome]

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

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

Protein attributes

Sequence length	698 AA.
Sequence status	Complete.
Protein existence	Evidence at protein level

General annotation (Comments)

Function	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). Ref.1 Ref.6 Ref.8
Subunit structure	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. Ref.7 Ref.8
Subcellular location	Nucleus. Cytoplasm. Note: Shuttles between the nucleus and the cytoplasm. Shuttling is essential for its mRNA export function. Ref.6 Isoform 1: Cytoplasm. Nucleus › nuclear pore complex. Note: Shuttles between the nucleus and the cytoplasm. In the nucleus, isoform 1 localizes to the nuclear pore complex and nuclear envelope. Shuttling is essential for its mRNA export function. Ref.6
Involvement in disease	Lethal congenital contracture syndrome 1 (LCCS1) [MIM:253310]: A 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, micrognatia, pulmonary hypoplasia, pterygia, and multiple joint contractures. It leads to prenatal death. Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.11 Lethal arthrogryposis with anterior horn cell disease (LAAHD) [MIM:611890]: A 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. Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.11
Sequence similarities	Belongs to the GLE1 family.

Ontologies

Keywords
Biological process	Protein transport Translocation Transport mRNA transport
Cellular component	Cytoplasm Nuclear pore complex Nucleus
Coding sequence diversity	Alternative splicing Polymorphism
Disease	Disease mutation
Domain	Coiled coil
PTM	Phosphoprotein
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Biological_process	mRNA export from nucleus Traceable author statement Ref.1. Source: ProtInc poly(A)+ mRNA export from nucleus Inferred from electronic annotation. Source: InterPro protein transport Inferred from electronic annotation. Source: UniProtKB-KW
Cellular_component	cytoplasm Inferred from electronic annotation. Source: UniProtKB-SubCell nuclear pore Traceable author statement Ref.1. Source: ProtInc
Complete GO annotation...

Alternative products

This entry describes 2 isoforms produced by alternative splicing. [Align] [Select]

Isoform 1 (identifier: Q53GS7-1)

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.

Note: Major isoform.

Isoform 2 (identifier: Q53GS7-2)

Also known as: hGle1A;

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

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 698	698	Nucleoporin GLE1		PRO_0000204822
Regions
	Region	1 – 29	29	Interaction with NUP155
	Region	444 – 483	40	Mediates the shuttling between the nucleus and the cytoplasm
	Region	656 – 698	43	Interaction with NUPL2
	Coiled coil	151 – 277	127	Potential
	Coiled coil	305 – 356	52	Potential
Amino acid modifications
	Modified residue	88	1	Phosphoserine Ref.9 Ref.10
	Modified residue	99	1	Phosphoserine Ref.10
Natural variations
	Alternative sequence	656 – 659	4	IEAI → YQAC in isoform 2.		VSP_016486
	Alternative sequence	660 – 698	39	Missing in isoform 2.		VSP_016487
	Natural variant	130	1	G → D. Ref.4 Corresponds to variant rs17852725 [ dbSNP | Ensembl ].		VAR_024056
	Natural variant	144	1	T → TPFQ in LCCS1; allele Fin(Major); does not affect subcellular localization.		VAR_043874
	Natural variant	243	1	I → V. Corresponds to variant rs2275260 [ dbSNP | Ensembl ].		VAR_024057
	Natural variant	569	1	R → H in LCCS1. Ref.11		VAR_043875
	Natural variant	590	1	R → Q. Ref.4 Corresponds to variant rs17856852 [ dbSNP | Ensembl ].		VAR_024058
	Natural variant	617	1	V → M in LAAHD. Ref.11		VAR_043876
	Natural variant	684	1	I → T in LAAHD. Ref.11		VAR_043877
Experimental info
	Sequence conflict	83	1	S → P in BAD96574. Ref.2
	Sequence conflict	172	1	F → S in BAD96562. Ref.2
	Sequence conflict	549	1	R → G in BAD96562. Ref.2

Sequences

	Sequence		Length	Mass (Da)
	Isoform 1 (hGle1B) [UniParc]. Last modified December 6, 2005. Version 2. Checksum: F9FC04683BCCDBB2	FASTA	698	79,836
	10 20 30 40 50 60 MPSEGRCWET LKALRSSDKG RLCYYRDWLL RREDVLEECM SLPKLSSYSG WVVEHVLPHM 70 80 90 100 110 120 QENQPLSETS PSSTSASALD QPSFVPKSPD ASSAFSPASP ATPNGTKGKD ESQHTESMVL 130 140 150 160 170 180 QSSRGIKVEG CVRMYELVHR MKGTEGLRLW QEEQERKVQA LSEMASEQLK RFDEWKELKQ 190 200 210 220 230 240 HKEFQDLREV MEKSSREALG HQEKLKAEHR HRAKILNLKL REAEQQRVKQ AEQERLRKEE 250 260 270 280 290 300 GQIRLRALYA LQEEMLQLSQ QLDASEQHKA LLKVDLAAFQ TRGNQLCSLI SGIIRASSES 310 320 330 340 350 360 SYPTAESQAE AERALREMRD LLMNLGQEIT RACEDKRRQD EEEAQVKLQE AQMQQGPEAH 370 380 390 400 410 420 KEPPAPSQGP GGKQNEDLQV KVQDITMQWY QQLQDASMQC VLTFEGLTNS KDSQAKKIKM 430 440 450 460 470 480 DLQKAATIPV SQISTIAGSK LKEIFDKIHS LLSGKPVQSG GRSVSVTLNP QGLDFVQYKL 490 500 510 520 530 540 AEKFVKQGEE EVASHHEAAF PIAVVASGIW ELHPRVGDLI LAHLHKKCPY SVPFYPTFKE 550 560 570 580 590 600 GMALEDYQRM LGYQVKDSKV EQQDNFLKRM SGMIRLYAAI IQLRWPYGNR QEIHPHGLNH 610 620 630 640 650 660 GWRWLAQILN MEPLSDVTAT LLFDFLEVCG NALMKQYQVQ FWKMLILIKE DYFPRIEAIT 670 680 690 SSGQMGSFIR LKQFLEKCLQ HKDIPVPKGF LTSSFWRS
	Isoform 2 (hGle1A) [UniParc]. Checksum: C97A3FFE7E7581B5	FASTA	659	75,407
	10 20 30 40 50 60 MPSEGRCWET LKALRSSDKG RLCYYRDWLL RREDVLEECM SLPKLSSYSG WVVEHVLPHM 70 80 90 100 110 120 QENQPLSETS PSSTSASALD QPSFVPKSPD ASSAFSPASP ATPNGTKGKD ESQHTESMVL 130 140 150 160 170 180 QSSRGIKVEG CVRMYELVHR MKGTEGLRLW QEEQERKVQA LSEMASEQLK RFDEWKELKQ 190 200 210 220 230 240 HKEFQDLREV MEKSSREALG HQEKLKAEHR HRAKILNLKL REAEQQRVKQ AEQERLRKEE 250 260 270 280 290 300 GQIRLRALYA LQEEMLQLSQ QLDASEQHKA LLKVDLAAFQ TRGNQLCSLI SGIIRASSES 310 320 330 340 350 360 SYPTAESQAE AERALREMRD LLMNLGQEIT RACEDKRRQD EEEAQVKLQE AQMQQGPEAH 370 380 390 400 410 420 KEPPAPSQGP GGKQNEDLQV KVQDITMQWY QQLQDASMQC VLTFEGLTNS KDSQAKKIKM 430 440 450 460 470 480 DLQKAATIPV SQISTIAGSK LKEIFDKIHS LLSGKPVQSG GRSVSVTLNP QGLDFVQYKL 490 500 510 520 530 540 AEKFVKQGEE EVASHHEAAF PIAVVASGIW ELHPRVGDLI LAHLHKKCPY SVPFYPTFKE 550 560 570 580 590 600 GMALEDYQRM LGYQVKDSKV EQQDNFLKRM SGMIRLYAAI IQLRWPYGNR QEIHPHGLNH 610 620 630 640 650 GWRWLAQILN MEPLSDVTAT LLFDFLEVCG NALMKQYQVQ FWKMLILIKE DYFPRYQAC

References

	« Hide 'large scale' referencesShow 'large scale' references »
[1]	"The human homologue of Saccharomyces cerevisiae Gle1p is required for poly(A)+ RNA export." Watkins J.L., Murphy R., Emtage J.L.T., Wente S.R. Proc. Natl. Acad. Sci. U.S.A. 95:6779-6784(1998) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 2), FUNCTION. Tissue: Brain.
[2]	Suzuki Y., Sugano S., Totoki Y., Toyoda A., Takeda T., Sakaki Y., Tanaka A., Yokoyama S. Submitted (APR-2005) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1 AND 2). Tissue: Liver.
[3]	"DNA sequence and analysis of human chromosome 9." Humphray S.J., Oliver K., Hunt A.R., Plumb R.W., Loveland J.E., Howe K.L., Andrews T.D., Searle S., Hunt S.E., Scott C.E., Jones M.C., Ainscough R., Almeida J.P., Ambrose K.D., Ashwell R.I.S., Babbage A.K., Babbage S., Bagguley C.L. , Bailey J., Banerjee R., Barker D.J., Barlow K.F., Bates K., Beasley H., Beasley O., Bird C.P., Bray-Allen S., Brown A.J., Brown J.Y., Burford D., Burrill W., Burton J., Carder C., Carter N.P., Chapman J.C., Chen Y., Clarke G., Clark S.Y., Clee C.M., Clegg S., Collier R.E., Corby N., Crosier M., Cummings A.T., Davies J., Dhami P., Dunn M., Dutta I., Dyer L.W., Earthrowl M.E., Faulkner L., Fleming C.J., Frankish A., Frankland J.A., French L., Fricker D.G., Garner P., Garnett J., Ghori J., Gilbert J.G.R., Glison C., Grafham D.V., Gribble S., Griffiths C., Griffiths-Jones S., Grocock R., Guy J., Hall R.E., Hammond S., Harley J.L., Harrison E.S.I., Hart E.A., Heath P.D., Henderson C.D., Hopkins B.L., Howard P.J., Howden P.J., Huckle E., Johnson C., Johnson D., Joy A.A., Kay M., Keenan S., Kershaw J.K., Kimberley A.M., King A., Knights A., Laird G.K., Langford C., Lawlor S., Leongamornlert D.A., Leversha M., Lloyd C., Lloyd D.M., Lovell J., Martin S., Mashreghi-Mohammadi M., Matthews L., McLaren S., McLay K.E., McMurray A., Milne S., Nickerson T., Nisbett J., Nordsiek G., Pearce A.V., Peck A.I., Porter K.M., Pandian R., Pelan S., Phillimore B., Povey S., Ramsey Y., Rand V., Scharfe M., Sehra H.K., Shownkeen R., Sims S.K., Skuce C.D., Smith M., Steward C.A., Swarbreck D., Sycamore N., Tester J., Thorpe A., Tracey A., Tromans A., Thomas D.W., Wall M., Wallis J.M., West A.P., Whitehead S.L., Willey D.L., Williams S.A., Wilming L., Wray P.W., Young L., Ashurst J.L., Coulson A., Blocker H., Durbin R.M., Sulston J.E., Hubbard T., Jackson M.J., Bentley D.R., Beck S., Rogers J., Dunham I. Nature 429:369-374(2004) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[4]	"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)." The MGC Project Team Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1), VARIANTS ASP-130 AND GLN-590. Tissue: Testis.
[5]	"The full-ORF clone resource of the German cDNA consortium." Bechtel S., Rosenfelder H., Duda A., Schmidt C.P., Ernst U., Wellenreuther R., Mehrle A., Schuster C., Bahr A., Bloecker H., Heubner D., Hoerlein A., Michel G., Wedler H., Koehrer K., Ottenwaelder B., Poustka A., Wiemann S., Schupp I. BMC Genomics 8:399-399(2007) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 136-698 (ISOFORM 1).
[6]	"An essential role for hGle1 nucleocytoplasmic shuttling in mRNA export." Kendirgi F., Barry D.M., Griffis E.R., Powers M.A., Wente S.R. J. Cell Biol. 160:1029-1040(2003) [PubMed] [Europe PMC] [Abstract] Cited for: ALTERNATIVE SPLICING (ISOFORMS 1 AND 2), FUNCTION, SUBCELLULAR LOCATION.
[7]	"The mRNA export factor human Gle1 interacts with the nuclear pore complex protein Nup155." Rayala H.J., Kendirgi F., Barry D.M., Majerus P.W., Wente S.R. Mol. Cell. Proteomics 3:145-155(2004) [PubMed] [Europe PMC] [Abstract] Cited for: INTERACTION WITH NUP155.
[8]	"Interaction between the shuttling mRNA export factor Gle1 and the nucleoporin hCG1: a conserved mechanism in the export of Hsp70 mRNA." Kendirgi F., Rexer D.J., Alcazar-Roman A.R., Onishko H.M., Wente S.R. Mol. Biol. Cell 16:4304-4315(2005) [PubMed] [Europe PMC] [Abstract] Cited for: FUNCTION, INTERACTION WITH NUPL2 AND NUP155.
[9]	"Quantitative phosphoproteomic analysis of T cell receptor signaling reveals system-wide modulation of protein-protein interactions." Mayya V., Lundgren D.H., Hwang S.-I., Rezaul K., Wu L., Eng J.K., Rodionov V., Han D.K. Sci. Signal. 2:RA46-RA46(2009) [PubMed] [Europe PMC] [Abstract] Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-88, MASS SPECTROMETRY. Tissue: Leukemic T-cell.
[10]	"Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis." Olsen J.V., Vermeulen M., Santamaria A., Kumar C., Miller M.L., Jensen L.J., Gnad F., Cox J., Jensen T.S., Nigg E.A., Brunak S., Mann M. Sci. Signal. 3:RA3-RA3(2010) [PubMed] [Europe PMC] [Abstract] Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-88 AND SER-99, MASS SPECTROMETRY. Tissue: Cervix carcinoma.
[11]	"Mutations in mRNA export mediator GLE1 result in a fetal motoneuron disease." Nousiainen H.O., Kestilae M., Pakkasjaervi N., Honkala H., Kuure S., Tallila J., Vuopala K., Ignatius J., Herva R., Peltonen L. Nat. Genet. 40:155-157(2008) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANTS LCCS1 PRO-PHE-GLN-144 INS AND HIS-569, VARIANTS LAAHD MET-617 AND THR-684, CHARACTERIZATION OF VARIANT LCCS1 PRO-PHE-GLN-144 INS.
+	Additional computationally mapped references.

Cross-references

Sequence databases
EMBL GenBank DDBJ	AF058922 mRNA. Translation: AAC25561.1. AK222842 mRNA. Translation: BAD96562.1. AK222854 mRNA. Translation: BAD96574.1. AL445287, AL356481 Genomic DNA. Translation: CAH71064.1. AL445287, AL356481 Genomic DNA. Translation: CAH71065.1. AL356481, AL445287 Genomic DNA. Translation: CAH71402.1. AL356481, AL445287 Genomic DNA. Translation: CAH71403.1. BC030012 mRNA. Translation: AAH30012.1. AL117584 mRNA. Translation: CAB56006.1.
IPI	IPI00301647. IPI00411438.
PIR	T17316.
RefSeq	NP_001003722.1. NM_001003722.1. NP_001490.1. NM_001499.2.
UniGene	Hs.522418.
3D structure databases
ProteinModelPortal	Q53GS7.
ModBase	Search...
Protein-protein interaction databases
IntAct	Q53GS7. 2 interactions.
STRING	9606.ENSP00000308622.
PTM databases
PhosphoSite	Q53GS7.
Polymorphism databases
DMDM	83288218.
Proteomic databases
PaxDb	Q53GS7.
PRIDE	Q53GS7.
Protocols and materials databases
DNASU	2733.
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000309971; ENSP00000308622; ENSG00000119392. ENST00000372770; ENSP00000361856; ENSG00000119392.
GeneID	2733.
KEGG	hsa:2733.
UCSC	uc004bvi.3. human. uc004bvj.3. human.
Organism-specific databases
CTD	2733.
GeneCards	GC09P131266.
HGNC	HGNC:4315. GLE1.
HPA	HPA041689. HPA043538.
MIM	253310. phenotype. 603371. gene. 611890. phenotype.
neXtProt	NX_Q53GS7.
Orphanet	53696. Lethal arthrogryposis - anterior horn cell disease. 1486. Lethal congenital contracture syndrome type 1.
PharmGKB	PA28718.
GenAtlas	Search...
Phylogenomic databases
eggNOG	NOG330485.
HOGENOM	HOG000246966.
HOVERGEN	HBG081558.
InParanoid	Q53GS7.
OMA	KEEHRHR.
OrthoDB	EOG4GB75R.
PhylomeDB	Q53GS7.
Gene expression databases
ArrayExpress	Q53GS7.
Bgee	Q53GS7.
CleanEx	HS_GLE1.
Genevestigator	Q53GS7.
GermOnline	ENSG00000119392. Homo sapiens.
Family and domain databases
InterPro	IPR012476. GLE1. [Graphical view]
PANTHER	PTHR12960. PTHR12960. 1 hit.
Pfam	PF07817. GLE1. 1 hit. [Graphical view]
ProtoNet	Search...
Other
GenomeRNAi	2733.
NextBio	10770.
SOURCE	Search...

Entry information

Entry name

GLE1_HUMAN

Accession

Primary (citable) accession number: Q53GS7
Secondary accession number(s): O75458 , Q53GT9, Q5VVU1, Q8NCP6, Q9UFL6

Entry history

Integrated into UniProtKB/Swiss-Prot:	December 6, 2005
Last sequence update:	December 6, 2005
Last modified:	May 1, 2013
This is version 82 of the entry and version 2 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation program

Chordata Protein Annotation Program

Disclaimer

Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.