NUP54
entrez
53371
canonical
uniprot
Q7Z3B4
canonical
ensembl
ENSG00000138750
resolver
ensp
ENSP00000264883
resolver
ensp
ENSP00000421304
resolver
ensp
ENSP00000512009
resolver
ensp
ENSP00000512014
resolver
ensp
ENSP00000539780
resolver
ensp
ENSP00000539782
resolver
enst
ENST00000515460
resolver
enst
ENST00000695556
resolver
genesymbol
NUP54
resolver
hgnc
HGNC:17359
resolver
uniprot
A0A8Q3SHX2
resolver
uniprot
A0A8Q3WLP2
resolver
uniprot
B2RCK7
resolver
uniprot
B4DT35
resolver
uniprot
Q96EA7
resolver
uniprot
Q9NVL5
resolver
uniprot
Q9P0I1
resolver
uniprot_entry
A0A8Q3SHX2_HUMAN
resolver
uniprot_entry
A0A8Q3WLP2_HUMAN
resolver
uniprot_entry
NUP54_HUMAN
resolver
uniprot_sec
B2RCK7
resolver
uniprot_sec
B4DT35
resolver
uniprot_sec
Q96EA7
resolver
uniprot_sec
Q9NVL5
resolver
uniprot_sec
Q9P0I1
resolver
amino_acid_sequence
MAFNFGAPSGTSGTAAATAAPAGGFGGFGTTSTTAGSAFSFSAPTNTGTTGLFGGTQNKGFGFGTGFGTTTGTSTGLGTGLGTGLGFGGFNTQQQQQTTLGGLFSQPTQAPTQSNQLINTASALSAPTLLGDERDAILAKWNQLQAFWGTGKGYFNNNIPPVEFTQENPFCRFKAVGYSCMPSNKDEDGLVVLVFNKKETEIRSQQQQLVESLHKVLGGNQTLTVNVEGTKTLPDDQTEVVIYVVERSPNGTSRRVPATTLYAHFEQANIKTQLQQLGVTLSMTRTELSPAQIKQLLQNPPAGVDPIIWEQAKVDNPDSEKLIPVPMVGFKELLRRLKVQDQMTKQHQTRLDIISEDISELQKNQTTSVAKIAQYKRKLMDLSHRTLQVLIKQEIQRKSGYAIQADEEQLRVQLDTIQGELNAPTQFKGRLNELMSQIRMQNHFGAVRSEERYYIDADLLREIKQHLKQQQEGLSHLISIIKDDLEDIKLVEHGLNETIHIRGGVFS
uniprot
proteins
disease_involvement
DISEASE: Dystonia 37, early-onset, with striatal lesions (DYT37) [MIM:620427]: A form of dystonia, a disorder defined by the presence of sustained involuntary muscle contraction, often leading to abnormal postures. DYT37 is an autosomal recessive form characterized by the onset of progressive dystonia, dysphagia, and choreoathetosis in the first months or years of life. Affected individuals show delayed motor development and may have impaired intellectual development. {ECO:0000269|PubMed:36333996}. Note=The disease may be caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Component of the nuclear pore complex, a complex required for the trafficking across the nuclear membrane. {ECO:0000250|UniProtKB:P70582}.
uniprot
proteins
mass_dalton
55435
uniprot
proteins
post_translational_modification
PTM: O-glycosylated. {ECO:0000250}.
uniprot
proteins
protein_family
NUP54 family
uniprot
proteins
pubmed
10931946
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15815621
uniprot
proteins
pubmed
17974005
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
36333996
uniprot
proteins
sequence_length
507
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Nucleus, nuclear pore complex {ECO:0000250|UniProtKB:P70582}. Nucleus membrane {ECO:0000250|UniProtKB:P70582}; Peripheral membrane protein {ECO:0000250|UniProtKB:P70582}; Cytoplasmic side {ECO:0000250|UniProtKB:P70582}. Nucleus membrane {ECO:0000250|UniProtKB:P70582}; Peripheral membrane protein {ECO:0000250|UniProtKB:P70582}; Nucleoplasmic side {ECO:0000250|UniProtKB:P70582}. Note=Biased towards cytoplasmic side. Central region of the nuclear pore complex, within the transporter. {ECO:0000250|UniProtKB:P70582}.
uniprot
proteins