Q7Z3B4 · NUP54_HUMAN
- ProteinNucleoporin p54
- GeneNUP54
- StatusUniProtKB reviewed (Swiss-Prot)
- Organism
- Amino acids507 (go to sequence)
- Protein existenceEvidence at protein level
- Annotation score5/5
Function
function
Component of the nuclear pore complex, a complex required for the trafficking across the nuclear membrane.
GO annotations
all annotations | all molecular function | virus receptor activity | dna binding | rna binding | cytoskeletal motor activity | catalytic activity | gtpase activity | structural molecule activity | transporter activity | cytoskeletal protein binding | lipid binding | cyclase activity | antioxidant activity | oxidoreductase activity | transferase activity | hydrolase activity | lyase activity | isomerase activity | ligase activity | protein tag activity | cargo receptor activity | histone binding | protein folding chaperone | translation regulator activity | nutrient reservoir activity | receptor ligand activity | molecular transducer activity | molecular adaptor activity | toxin activity | cell adhesion mediator activity | molecular function regulator activity | virus coreceptor activity | catalytic activity, acting on a protein | catalytic activity, acting on dna | catalytic activity, acting on rna | molecular carrier activity | transcription regulator activity | general transcription initiation factor activity | molecular sensor activity | molecular sequestering activity | atp-dependent activity | other molecular function | all biological process | mitotic cell cycle | cytokinesis | cytoplasmic translation | immune system process | muscle system process | circulatory system process | renal system process | respiratory system process | carbohydrate metabolic process | generation of precursor metabolites and energy | dna replication | dna repair | dna recombination | chromatin organization | dna-templated transcription | regulation of dna-templated transcription | trna metabolic process | protein folding | protein glycosylation | amino acid metabolic process | modified amino acid metabolic process | lipid metabolic process | vitamin metabolic process | sulfur compound metabolic process | intracellular protein transport | nucleocytoplasmic transport | autophagy | inflammatory response | mitochondrion organization | cytoskeleton organization | microtubule-based movement | peroxisome organization | lysosome organization | chromosome segregation | cell adhesion | establishment or maintenance of cell polarity | programmed cell death | photosynthesis | mrna metabolic process | snrna metabolic process | vesicle-mediated transport | reproductive process | digestive system process | signaling | cell differentiation | protein catabolic process | extracellular matrix organization | regulatory ncrna-mediated gene silencing | telomere organization | cell junction organization | wound healing | ribosome biogenesis | cilium organization | anatomical structure development | cell motility | nervous system process | endocrine process | protein maturation | transmembrane transport | nucleobase-containing small molecule metabolic process | hepaticobiliary system process | membrane organization | protein-containing complex assembly | cell wall organization or biogenesis | nitrogen cycle metabolic process | protein localization to plasma membrane | defense response to other organism | detoxification | meiotic nuclear division | mitotic nuclear division | mitochondrial gene expression | carbohydrate derivative metabolic process | other biological process | all cellular component | nuclear chromosome | extracellular region | extracellular space | cell wall | nucleus | nuclear envelope | nucleoplasm | chromosome | nucleolus | mitochondrion | lysosome | endosome | vacuole | peroxisome | endoplasmic reticulum | golgi apparatus | lipid droplet | microtubule organizing center | cytosol | ribosome | cytoskeleton | plasma membrane | cilium | plastid | thylakoid | external encapsulating structure | extracellular matrix | cytoplasmic vesicle | organelle | other cellular component | |||
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Aspect | Term | |
---|---|---|
Cellular Component | nuclear envelope | |
Cellular Component | nuclear membrane | |
Cellular Component | nuclear pore | |
Cellular Component | nuclear pore central transport channel | |
Molecular Function | identical protein binding | |
Molecular Function | protein-containing complex binding | |
Molecular Function | structural constituent of nuclear pore | |
Biological Process | mRNA transport | |
Biological Process | NLS-bearing protein import into nucleus | |
Biological Process | nuclear pore organization | |
Biological Process | nucleocytoplasmic transport | |
Biological Process | protein localization to nuclear inner membrane | |
Biological Process | protein targeting | |
Biological Process | regulation of protein import into nucleus |
Keywords
- Biological process
Enzyme and pathway databases
Protein family/group databases
Names & Taxonomy
Protein names
- Recommended nameNucleoporin p54
- Alternative names
Gene names
Organism names
- Organism
- Taxonomic lineageEukaryota > Metazoa > Chordata > Craniata > Vertebrata > Euteleostomi > Mammalia > Eutheria > Euarchontoglires > Primates > Haplorrhini > Catarrhini > Hominidae > Homo
Accessions
- Primary accessionQ7Z3B4
- Secondary accessions
Proteomes
Organism-specific databases
Subcellular Location
UniProt Annotation
GO Annotation
Nucleus membrane ; Peripheral membrane protein
Nucleus membrane ; Peripheral membrane protein
Note: Biased towards cytoplasmic side. Central region of the nuclear pore complex, within the transporter.
Keywords
- Cellular component
Disease & Variants
Involvement in disease
Dystonia 37, early-onset, with striatal lesions (DYT37)
- Note
- DescriptionA 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.
- See alsoMIM:620427
Natural variants in DYT37
Variant ID | Position(s) | Change | Description | |
---|---|---|---|---|
VAR_088652 | 358 | I>S | in DYT37; uncertain significance; dbSNP:rs776306424 | |
VAR_088653 | 376 | K>E | in DYT37; uncertain significance; dbSNP:rs765028638 | |
VAR_088654 | 471 | missing | in DYT37; uncertain significance | |
VAR_088655 | 472 | E>K | in DYT37; associated in cis with F-474; uncertain significance | |
VAR_088656 | 474 | L>F | in DYT37; associated in cis with K-472; uncertain significance |
Features
Showing features for natural variant.
Type | ID | Position(s) | Description | |||
---|---|---|---|---|---|---|
Natural variant | VAR_088652 | 358 | in DYT37; uncertain significance; dbSNP:rs776306424 | |||
Sequence: I → S | ||||||
Natural variant | VAR_088653 | 376 | in DYT37; uncertain significance; dbSNP:rs765028638 | |||
Sequence: K → E | ||||||
Natural variant | VAR_088654 | 471 | in DYT37; uncertain significance | |||
Sequence: Missing | ||||||
Natural variant | VAR_088655 | 472 | in DYT37; associated in cis with F-474; uncertain significance | |||
Sequence: E → K | ||||||
Natural variant | VAR_088656 | 474 | in DYT37; associated in cis with K-472; uncertain significance | |||
Sequence: L → F |
Variants
We now provide the "Disease & Variants" viewer in its own tab.
The viewer provides 440 variants from UniProt as well as other sources including ClinVar and dbSNP.
Keywords
- Disease
Organism-specific databases
Miscellaneous
Genetic variation databases
PTM/Processing
Features
Showing features for chain.
Type | ID | Position(s) | Description | |||
---|---|---|---|---|---|---|
Chain | PRO_0000204874 | 1-507 | Nucleoporin p54 | |||
Sequence: MAFNFGAPSGTSGTAAATAAPAGGFGGFGTTSTTAGSAFSFSAPTNTGTTGLFGGTQNKGFGFGTGFGTTTGTSTGLGTGLGTGLGFGGFNTQQQQQTTLGGLFSQPTQAPTQSNQLINTASALSAPTLLGDERDAILAKWNQLQAFWGTGKGYFNNNIPPVEFTQENPFCRFKAVGYSCMPSNKDEDGLVVLVFNKKETEIRSQQQQLVESLHKVLGGNQTLTVNVEGTKTLPDDQTEVVIYVVERSPNGTSRRVPATTLYAHFEQANIKTQLQQLGVTLSMTRTELSPAQIKQLLQNPPAGVDPIIWEQAKVDNPDSEKLIPVPMVGFKELLRRLKVQDQMTKQHQTRLDIISEDISELQKNQTTSVAKIAQYKRKLMDLSHRTLQVLIKQEIQRKSGYAIQADEEQLRVQLDTIQGELNAPTQFKGRLNELMSQIRMQNHFGAVRSEERYYIDADLLREIKQHLKQQQEGLSHLISIIKDDLEDIKLVEHGLNETIHIRGGVFS |
Post-translational modification
O-glycosylated.
Keywords
- PTM
Proteomic databases
PTM databases
Expression
Interaction
Subunit
Component of the p62 complex, a complex composed of NUP62, NUP54, and the isoform p58 and isoform p45 of NUP58. Interacts with NUTF2.
Binary interactions
Protein-protein interaction databases
Miscellaneous
Structure
Family & Domains
Features
Showing features for repeat, region.
Type | ID | Position(s) | Description | |||
---|---|---|---|---|---|---|
Repeat | 5-6 | 1 | ||||
Sequence: FG | ||||||
Region | 5-445 | 9 X 2 AA repeats of F-G | ||||
Sequence: FGAPSGTSGTAAATAAPAGGFGGFGTTSTTAGSAFSFSAPTNTGTTGLFGGTQNKGFGFGTGFGTTTGTSTGLGTGLGTGLGFGGFNTQQQQQTTLGGLFSQPTQAPTQSNQLINTASALSAPTLLGDERDAILAKWNQLQAFWGTGKGYFNNNIPPVEFTQENPFCRFKAVGYSCMPSNKDEDGLVVLVFNKKETEIRSQQQQLVESLHKVLGGNQTLTVNVEGTKTLPDDQTEVVIYVVERSPNGTSRRVPATTLYAHFEQANIKTQLQQLGVTLSMTRTELSPAQIKQLLQNPPAGVDPIIWEQAKVDNPDSEKLIPVPMVGFKELLRRLKVQDQMTKQHQTRLDIISEDISELQKNQTTSVAKIAQYKRKLMDLSHRTLQVLIKQEIQRKSGYAIQADEEQLRVQLDTIQGELNAPTQFKGRLNELMSQIRMQNHFG | ||||||
Repeat | 25-26 | 2 | ||||
Sequence: FG | ||||||
Repeat | 28-29 | 3 | ||||
Sequence: FG | ||||||
Repeat | 53-54 | 4 | ||||
Sequence: FG | ||||||
Repeat | 61-62 | 5 | ||||
Sequence: FG | ||||||
Repeat | 63-64 | 6 | ||||
Sequence: FG | ||||||
Repeat | 67-68 | 7 | ||||
Sequence: FG | ||||||
Repeat | 87-88 | 8 | ||||
Sequence: FG | ||||||
Repeat | 444-445 | 9 | ||||
Sequence: FG |
Domain
Contains FG repeats.
Sequence similarities
Belongs to the NUP54 family.
Keywords
- Domain
Phylogenomic databases
Family and domain databases
Sequence & Isoforms
- Sequence statusComplete
This entry describes 3 isoforms produced by Alternative splicing.
Q7Z3B4-1
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.
- Name1
- Length507
- Mass (Da)55,435
- Last updated2003-10-31 v2
- ChecksumB5D235E01F1FE467
Q7Z3B4-2
- Name2
Q7Z3B4-3
- Name3
- Differences from canonical
- 51-99: GLFGGTQNKGFGFGTGFGTTTGTSTGLGTGLGTGLGFGGFNTQQQQQTT → A
Computationally mapped potential isoform sequences
There are 13 potential isoforms mapped to this entry
Entry | Entry name | Gene name | Length | ||
---|---|---|---|---|---|
D6RFI8 | D6RFI8_HUMAN | NUP54 | 138 | ||
D6RBF7 | D6RBF7_HUMAN | NUP54 | 102 | ||
D6RB65 | D6RB65_HUMAN | NUP54 | 84 | ||
A0A8Q3WLY5 | A0A8Q3WLY5_HUMAN | NUP54 | 253 | ||
A0A8Q3WLP2 | A0A8Q3WLP2_HUMAN | NUP54 | 327 | ||
A0A8Q3WKJ4 | A0A8Q3WKJ4_HUMAN | NUP54 | 561 | ||
A0A8Q3WKK2 | A0A8Q3WKK2_HUMAN | NUP54 | 438 | ||
A0A8Q3WKL3 | A0A8Q3WKL3_HUMAN | NUP54 | 83 | ||
A0A8Q3WKP8 | A0A8Q3WKP8_HUMAN | NUP54 | 243 | ||
A0A8Q3WL42 | A0A8Q3WL42_HUMAN | NUP54 | 380 | ||
A0A8Q3SHX2 | A0A8Q3SHX2_HUMAN | NUP54 | 303 | ||
A0A8Q3SI16 | A0A8Q3SI16_HUMAN | NUP54 | 84 | ||
A0A8Z5F6C8 | A0A8Z5F6C8_HUMAN | NUP54 | 289 |
Sequence caution
Features
Showing features for alternative sequence, sequence conflict.
Type | ID | Position(s) | Description | |||
---|---|---|---|---|---|---|
Alternative sequence | VSP_008740 | 1-180 | in isoform 2 | |||
Sequence: Missing | ||||||
Sequence conflict | 22-25 | in Ref. 1; AAF67488 | ||||
Sequence: AGGF → GWV | ||||||
Alternative sequence | VSP_054355 | 51-99 | in isoform 3 | |||
Sequence: GLFGGTQNKGFGFGTGFGTTTGTSTGLGTGLGTGLGFGGFNTQQQQQTT → A | ||||||
Sequence conflict | 226 | in Ref. 2; BAA91735 | ||||
Sequence: N → S | ||||||
Sequence conflict | 265-277 | in Ref. 1; AAF67488 | ||||
Sequence: FEQANIKTQLQQL → LNKPYKNTIAAT | ||||||
Sequence conflict | 322 | in Ref. 1; AAF67488 | ||||
Sequence: L → V | ||||||
Alternative sequence | VSP_008741 | 353-388 | in isoform 2 | |||
Sequence: Missing | ||||||
Sequence conflict | 363 | in Ref. 1; AAF67488 | ||||
Sequence: K → T | ||||||
Sequence conflict | 433 | in Ref. 1; AAF67488 | ||||
Sequence: E → G | ||||||
Sequence conflict | 507 | in Ref. 3; CAD97957 | ||||
Sequence: S → G |
Keywords
- Coding sequence diversity
- Technical term
Sequence databases
Nucleotide Sequence | Protein Sequence | Molecule Type | Status | |
---|---|---|---|---|
AF157322 EMBL· GenBank· DDBJ | AAF67488.1 EMBL· GenBank· DDBJ | mRNA | ||
AK001517 EMBL· GenBank· DDBJ | BAA91735.1 EMBL· GenBank· DDBJ | mRNA | Frameshift | |
AK300036 EMBL· GenBank· DDBJ | BAG61847.1 EMBL· GenBank· DDBJ | mRNA | ||
AK315160 EMBL· GenBank· DDBJ | BAG37604.1 EMBL· GenBank· DDBJ | mRNA | ||
BX538002 EMBL· GenBank· DDBJ | CAD97957.1 EMBL· GenBank· DDBJ | mRNA | ||
AC110795 EMBL· GenBank· DDBJ | - | Genomic DNA | No translation available. | |
AC112719 EMBL· GenBank· DDBJ | - | Genomic DNA | No translation available. | |
CH471057 EMBL· GenBank· DDBJ | EAX05777.1 EMBL· GenBank· DDBJ | Genomic DNA |