Seroatlas · Human Serome Atlas

GLE1

mRNA export factor GLE1

Also known as: GLE1_HUMAN, GLE1L, hGLE1, LCCS1

Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene

Protein identityUniProt · HPA

UniProt accession: Q53GS7
Gene: GLE1
Ensembl: ENSG00000119392
Chromosome: 9
Canonical length: 698 aa
Protein class: Disease related genes, Human disease related genes, Metabolic proteins, Potential drug targets, Predicted intracellular proteins, Transporters
Subcellular location: Nuclear membrane,Nucleoli,Cytosol

OverviewNCBI Gene

This gene encodes a predicted 75-kDa polypeptide with high sequence and structure homology to yeast Gle1p, which is nuclear protein with a leucine-rich nuclear export sequence essential for poly(A)+RNA export. Inhibition of human GLE1L by microinjection of antibodies against GLE1L in HeLa cells resulted in inhibition of poly(A)+RNA export. Immunoflourescence studies show that GLE1L is localized at the nuclear pore complexes. This localization suggests that GLE1L may act at a terminal step in the export of mature RNA messages to the cytoplasm. Two alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

Canonical amino-acid sequenceUniProt

698 residues, UniProt reviewed canonical sequence.

>Q53GS7|GLE1
     1  MPSEGRCWET LKALRSSDKG RLCYYRDWLL RREDVLEECM SLPKLSSYSG WVVEHVLPHM
    61  QENQPLSETS PSSTSASALD QPSFVPKSPD ASSAFSPASP ATPNGTKGKD ESQHTESMVL
   121  QSSRGIKVEG CVRMYELVHR MKGTEGLRLW QEEQERKVQA LSEMASEQLK RFDEWKELKQ
   181  HKEFQDLREV MEKSSREALG HQEKLKAEHR HRAKILNLKL REAEQQRVKQ AEQERLRKEE
   241  GQIRLRALYA LQEEMLQLSQ QLDASEQHKA LLKVDLAAFQ TRGNQLCSLI SGIIRASSES
   301  SYPTAESQAE AERALREMRD LLMNLGQEIT RACEDKRRQD EEEAQVKLQE AQMQQGPEAH
   361  KEPPAPSQGP GGKQNEDLQV KVQDITMQWY QQLQDASMQC VLTFEGLTNS KDSQAKKIKM
   421  DLQKAATIPV SQISTIAGSK LKEIFDKIHS LLSGKPVQSG GRSVSVTLNP QGLDFVQYKL
   481  AEKFVKQGEE EVASHHEAAF PIAVVASGIW ELHPRVGDLI LAHLHKKCPY SVPFYPTFKE
   541  GMALEDYQRM LGYQVKDSKV EQQDNFLKRM SGMIRLYAAI IQLRWPYGNR QEIHPHGLNH
   601  GWRWLAQILN MEPLSDVTAT LLFDFLEVCG NALMKQYQVQ FWKMLILIKE DYFPRIEAIT
   661  SSGQMGSFIR LKQFLEKCLQ HKDIPVPKGF LTSSFWRS

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against GLE1 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability: Intracellular
Secreted: No
Transmembrane segments: 0
Mean surface accessibility (rSASA): 0.39
Highest tissue expression: 22 nTPM

Expression across tissuesHPA

Tissue

testis: 22 nTPM
thymus: 21 nTPM
skeletal muscle: 17 nTPM
tonsil: 17 nTPM
lymph node: 16 nTPM
liver: 13 nTPM

Single-cell type

late primary spermatocytes: 104 nCPM
late spermatids: 88 nCPM
early spermatids: 83 nCPM
early primary spermatocytes: 70 nCPM
retinal horizontal cells: 56 nCPM
neutrophils: 53 nCPM

Immune cell

basophil: 36 nTPM
non-classical monocyte: 25 nTPM
NK-cell: 24 nTPM
intermediate monocyte: 23 nTPM
eosinophil: 21 nTPM
myeloid DC: 19 nTPM

Brain region

choroid plexus: 9.2 nTPM
cerebellum: 7.6 nTPM
basal ganglia: 6.2 nTPM
thalamus: 6.1 nTPM
cerebral cortex: 5.5 nTPM
white matter: 5.4 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about GLE1.

Disease | AllUniProt

Conditions GLE1 is implicated in, by any mechanism.

Lethal congenital contracture syndrome 1 (LCCS1) MIM:253310
Congenital arthrogryposis with anterior horn cell disease (CAAHD) MIM:611890

Disease | GeneticClinVar

158 pathogenic / likely-pathogenic of 800 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

Lethal congenital contractural syndrome Finnish type
Lethal arthrogryposis-anterior horn cell disease syndrome
Lethal congenital contracture syndrome 1
GLE1-related disorder
Inborn genetic diseases

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance): 0.75
gnomAD pLI: 0
gnomAD missense Z: 0.81
DepMap mean gene effect: -0.62
DepMap dependency class: common

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 7% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

Molecular functions

Cellular components

Protein domainsUniProt · Pfam · InterPro

mRNA export factor GLE1-like
GLE1-like superfamily
GLE1-like protein

KeywordsUniProt

InteractionsUniProt · HPA

Protein binding partners of GLE1 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

Antibody and autoantibody relevanceSeroatlas analysis

Seroatlas reads GLE1 as an antibody target. Whether an autoantibody or antibody against GLE1 could matter depends on whether native GLE1 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

GLE1 is annotated as predominantly intracellular. Intracellular proteins are common autoantibody markers, becoming visible to the immune system after cell injury or altered processing, but are usually markers of disease rather than direct drivers.

Source-annotated serology context

The source annotations explicitly mention antibody, autoantibody, autoantigen, or autoimmune context. This is biological context, not study-specific reactivity.

Inhibition of human GLE1L by microinjection of antibodies against GLE1L in HeLa cells resulted in inhibition of poly(A)+RNA export.

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