Homo sapiens (human): 53371 Help Entry 53371             CDS       T01001                                  Symbol NUP54, DYT37 Name (RefSeq) nucleoporin 54   KO K14308   nuclear pore complex protein Nup54 Organism hsa  Homo sapiens (human) Pathway hsa03013   Nucleocytoplasmic transport hsa05014   Amyotrophic lateral sclerosis Network nt06464  Amyotrophic lateral sclerosis   Element N01152   Nuclear export of mRNA N01153   Mutation-caused aberrant GLE1 to nuclear export of mRNA Disease H00831   Primary dystonia Brite KEGG Orthology (KO) [BR:hsa00001]  09120 Genetic Information Processing   09122 Translation    03013 Nucleocytoplasmic transport     53371 (NUP54)  09160 Human Diseases   09164 Neurodegenerative disease    05014 Amyotrophic lateral sclerosis     53371 (NUP54)  09180 Brite Hierarchies   09182 Protein families: genetic information processing    03019 Messenger RNA biogenesis [BR:hsa03019]     53371 (NUP54) Messenger RNA biogenesis [BR:hsa03019]  Eukaryotic type   mRNA surveillance and transport factors    Transport factors     Nuclear pore complex      53371 (NUP54) BRITE hierarchy SSDB OrthologParalogGene clusterGFIT Motif Pfam:  Nup54 Nup54_C XhlA Motif Other DBs NCBI-GeneID:  53371 NCBI-ProteinID:  NP_059122 OMIM:  607607 HGNC:  17359 Ensembl:  ENSG00000138750 UniProt:  Q7Z3B4 Structure PDB LinkDB All DBs Position 4:complement(76114664..76148397) Genome browser AA seq 507 aa AA seqDB search MAFNFGAPSGTSGTAAATAAPAGGFGGFGTTSTTAGSAFSFSAPTNTGTTGLFGGTQNKG FGFGTGFGTTTGTSTGLGTGLGTGLGFGGFNTQQQQQTTLGGLFSQPTQAPTQSNQLINT ASALSAPTLLGDERDAILAKWNQLQAFWGTGKGYFNNNIPPVEFTQENPFCRFKAVGYSC MPSNKDEDGLVVLVFNKKETEIRSQQQQLVESLHKVLGGNQTLTVNVEGTKTLPDDQTEV VIYVVERSPNGTSRRVPATTLYAHFEQANIKTQLQQLGVTLSMTRTELSPAQIKQLLQNP PAGVDPIIWEQAKVDNPDSEKLIPVPMVGFKELLRRLKVQDQMTKQHQTRLDIISEDISE LQKNQTTSVAKIAQYKRKLMDLSHRTLQVLIKQEIQRKSGYAIQADEEQLRVQLDTIQGE LNAPTQFKGRLNELMSQIRMQNHFGAVRSEERYYIDADLLREIKQHLKQQQEGLSHLISI IKDDLEDIKLVEHGLNETIHIRGGVFS NT seq 1524 nt NT seq  +upstreamnt  +downstreamnt atggccttcaattttggggctccctcgggcacctccggtaccgctgcagccaccgcggcc cccgcgggtgggtttggaggatttgggacaacatctacaactgcaggttctgcattcagc ttttctgccccaactaacacaggcactactggactctttggtggtactcagaacaaaggt tttggatttggtactggttttggcacaacaacgggaactagtactggtttaggtactggt ttgggaactggactgggatttggaggatttaatacacagcagcagcagcaaactacatta ggtggtctcttcagtcagcctacacaagctcctacccagtccaaccagctgataaatact gcgagtgctctttctgctccaacgctgttgggagatgagagagatgctattttggcaaaa tggaatcaactgcaggccttttggggaacaggaaaagggtatttcaacaataatattccg ccagtggaattcacacaagaaaatcccttttgccgatttaaggcagtaggttatagttgc atgcccagtaataaagatgaagatgggctagtggttttagttttcaacaaaaaagaaaca gagattcgaagccaacaacaacagttggtagaatcattgcataaagttttgggaggaaac cagacccttactgtaaatgtagagggcactaaaacattgccagatgatcagacagaagtt gttatttatgttgttgagcgttcgccaaatggtacttcaagaagagttccagctacaacg ctatatgcccattttgaacaagccaatataaaaacacaattgcagcaacttggtgtaacc ctttctatgactagaacagaactttctcctgcacagatcaaacagcttttacagaatcct cctgctggtgttgatcctattatctgggaacaggccaaggtagataaccctgattctgaa aagttaattcctgtaccaatggtgggttttaaggaacttctccgaagactgaaggttcaa gatcagatgactaagcagcatcaaaccagattagatatcatatctgaagatattagtgag ctacaaaagaatcaaactacatctgtagccaaaattgcacaatacaagaggaaactcatg gatctttcccatagaactttacaggtcctaatcaaacaggaaattcaaaggaagagtggt tatgccattcaggctgatgaagagcagttgcgagttcagctggatacgattcagggtgaa ctaaatgcacctactcagttcaagggccgactaaatgaattgatgtctcaaatcaggatg cagaatcattttggagcagtcagatctgaagaaaggtattacatagatgcagatctgtta cgagaaatcaagcagcatttgaaacaacaacaggaaggccttagccatttgattagcatc attaaagacgatctagaagatataaagctggtcgaacatggattgaatgaaaccatccac atcagaggtggtgtctttagttga

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