KEGG   Homo sapiens (human): 2733
Entry
2733              CDS       T01001                                 
Symbol
GLE1, CAAHC, CAAHD, GLE1L, LCCS, LCCS1, hGLE1
Name
(RefSeq) GLE1 RNA export mediator
  KO
K18723  nucleoporin GLE1
Organism
hsa  Homo sapiens (human)
Pathway
hsa03013  Nucleocytoplasmic transport
hsa03015  mRNA surveillance pathway
hsa05014  Amyotrophic lateral sclerosis
Network
nt06424  RNA processing
nt06464  Amyotrophic lateral sclerosis
  Element
N01152  Nuclear export of mRNA
N01153  Mutation-caused aberrant GLE1 to nuclear export of mRNA
Disease
H00865  Lethal congenital contractural syndrome
H01030  Congenital arthrogryposis with anterior horn cell disease
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09120 Genetic Information Processing
  09122 Translation
   03013 Nucleocytoplasmic transport
    2733 (GLE1)
   03015 mRNA surveillance pathway
    2733 (GLE1)
 09160 Human Diseases
  09164 Neurodegenerative disease
   05014 Amyotrophic lateral sclerosis
    2733 (GLE1)
 09180 Brite Hierarchies
  09182 Protein families: genetic information processing
   03019 Messenger RNA biogenesis [BR:hsa03019]
    2733 (GLE1)
Messenger RNA biogenesis [BR:hsa03019]
 Eukaryotic type
  mRNA surveillance and transport factors
   Transport factors
    Nuclear pore complex
     2733 (GLE1)
SSDB
Motif
Pfam: GLE1
Other DBs
NCBI-GeneID: 2733
NCBI-ProteinID: NP_001003722
OMIM: 603371
HGNC: 4315
Ensembl: ENSG00000119392
Vega: OTTHUMG00000020749
Pharos: Q53GS7(Tbio)
UniProt: Q53GS7
Structure
LinkDB
Position
9:128504692..128542288
AA seq 698 aa
MPSEGRCWETLKALRSSDKGRLCYYRDWLLRREDVLEECMSLPKLSSYSGWVVEHVLPHM
QENQPLSETSPSSTSASALDQPSFVPKSPDASSAFSPASPATPNGTKGKDESQHTESMVL
QSSRGIKVEGCVRMYELVHRMKGTEGLRLWQEEQERKVQALSEMASEQLKRFDEWKELKQ
HKEFQDLREVMEKSSREALGHQEKLKAEHRHRAKILNLKLREAEQQRVKQAEQERLRKEE
GQIRLRALYALQEEMLQLSQQLDASEQHKALLKVDLAAFQTRGNQLCSLISGIIRASSES
SYPTAESQAEAERALREMRDLLMNLGQEITRACEDKRRQDEEEAQVKLQEAQMQQGPEAH
KEPPAPSQGPGGKQNEDLQVKVQDITMQWYQQLQDASMQCVLTFEGLTNSKDSQAKKIKM
DLQKAATIPVSQISTIAGSKLKEIFDKIHSLLSGKPVQSGGRSVSVTLNPQGLDFVQYKL
AEKFVKQGEEEVASHHEAAFPIAVVASGIWELHPRVGDLILAHLHKKCPYSVPFYPTFKE
GMALEDYQRMLGYQVKDSKVEQQDNFLKRMSGMIRLYAAIIQLRWPYGNRQEIHPHGLNH
GWRWLAQILNMEPLSDVTATLLFDFLEVCGNALMKQYQVQFWKMLILIKEDYFPRIEAIT
SSGQMGSFIRLKQFLEKCLQHKDIPVPKGFLTSSFWRS
NT seq 2097 nt   +upstreamnt  +downstreamnt
atgccgtctgagggtcgctgctgggagaccttgaaggccctacgcagttccgacaaaggt
cgcctttgctactaccgcgactggctgctgcggcgcgaggatgttttagaagaatgtatg
tctcttcccaagctatcttcttattctggatgggtggtagagcacgtcctaccccatatg
caggagaaccaacctctgtctgagacttcgccatcctctacgtcagcttcagccctagat
caaccctcatttgttcccaaatctcctgacgcaagctctgccttttccccagcctcccct
gcaacaccaaatggaaccaagggcaaagatgagtcccagcacacagaatctatggtactt
cagtcctcacgggggatcaaagtggaaggctgcgtccgaatgtacgaactggtacacaga
atgaaaggaacagagggcctgaggctatggcaggaggagcaggagaggaaggtgcaagcc
ctctcggagatggcatctgaacaactgaagcggtttgatgaatggaaggaactgaagcag
cataaagaattccaggacttgcgggaagtaatggagaagagctccagagaagccttggga
caccaagagaagctaaaagctgagcaccgtcacagagcaaagattctcaacctgaagctg
cgggaagcagagcagcagcgcgtgaagcaagcagaacaggagcggcttcggaaggaagaa
ggccagatccgcctgcgggccctctatgctctgcaggaggagatgctgcagctcagccag
cagctggatgcctctgagcagcacaaagccctgcttaaggtcgacctggctgccttccag
acccgaggcaaccagctgtgcagcctcatctcagggatcatccgggcctcttcagagagc
agctatcccacagcagagagtcaagctgaggctgagcgagctctgcgggaaatgcgggac
ctcctgatgaacttggggcaggagatcaccagagcctgcgaagacaagaggaggcaggat
gaagaagaggcccaggtaaagctgcaagaggcacagatgcagcagggaccagaggcccac
aaagagcccccagctcccagccagggcccaggagggaaacagaatgaagacctccaggtg
aaggtacaagacattacaatgcagtggtaccagcagctgcaggatgcttccatgcagtgt
gtgttgacctttgagggcctgaccaacagcaaggacagtcaggccaaaaagataaagatg
gacctccagaaggctgctaccatcccagtgagccaaatctctaccattgcaggctcaaaa
ctgaaggagatctttgacaagatccacagcctgctctctggaaaacctgttcaatctggt
gggcgctctgtgtctgtcacacttaacccacaggggctggactttgttcaatacaaactg
gcagagaaatttgtgaaacaaggcgaggaggaagtggcctctcaccatgaagcagcattc
cccattgcagttgtggcatccgggatctgggagctccaccccagagtgggggacctcatt
cttgctcatctacataagaagtgtccttactctgttcctttctatcccactttcaaggag
ggaatggctttggaagactatcagaggatgcttggttaccaagtaaaggattccaaagtg
gagcagcaagacaactttctaaaacgcatgtcagggatgatccgtctctacgctgctatc
atccagctccggtggccatatggaaaccgacaggagattcaccctcatggcttaaatcat
ggatggcgctggttggcacagatcttaaacatggagcccttgtcagatgtgacagccacc
ctcctctttgacttcctggaggtgtgtgggaatgccctcatgaagcaataccaggttcag
ttctggaagatgctaattctcatcaaagaggactactttcccagaattgaagctatcaca
agctcaggacagatgggctccttcatacgcctcaagcagttcttggagaaatgtttgcaa
cacaaggacattcctgtccccaagggctttctgacttcctccttctggcgctcctga

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