NUP54 | ENSG00000138750 | NCBI 53371

Details for: NUP54

Gene ID: 53371

Symbol: NUP54

Ensembl ID: ENSG00000138750

Description: nucleoporin 54

Associated with

Antiviral mechanism by ifn-stimulated genes
(R-HSA-1169410)
Cell cycle
(R-HSA-1640170)
Cell cycle, mitotic
(R-HSA-69278)
Cellular responses to stimuli
(R-HSA-8953897)
Cellular responses to stress
(R-HSA-2262752)
Cellular response to heat stress
(R-HSA-3371556)
Cytokine signaling in immune system
(R-HSA-1280215)
Defective tpr may confer susceptibility towards thyroid papillary carcinoma (tpc)
(R-HSA-5619107)
Disease
(R-HSA-1643685)
Disorders of transmembrane transporters
(R-HSA-5619115)
Export of viral ribonucleoproteins from nucleus
(R-HSA-168274)
Gene expression (transcription)
(R-HSA-74160)
Gene silencing by rna
(R-HSA-211000)
Glucose metabolism
(R-HSA-70326)
Glycolysis
(R-HSA-70171)
Hcmv early events
(R-HSA-9609690)
Hcmv infection
(R-HSA-9609646)
Hcmv late events
(R-HSA-9610379)
Hiv infection
(R-HSA-162906)
Hiv life cycle
(R-HSA-162587)
Host interactions of hiv factors
(R-HSA-162909)
Immune system
(R-HSA-168256)
Infectious disease
(R-HSA-5663205)
Influenza infection
(R-HSA-168255)
Influenza viral rna transcription and replication
(R-HSA-168273)
Interactions of rev with host cellular proteins
(R-HSA-177243)
Interactions of vpr with host cellular proteins
(R-HSA-176033)
Interferon signaling
(R-HSA-913531)
Isg15 antiviral mechanism
(R-HSA-1169408)
Late phase of hiv life cycle
(R-HSA-162599)
Metabolism
(R-HSA-1430728)
Metabolism of carbohydrates
(R-HSA-71387)
Metabolism of non-coding rna
(R-HSA-194441)
Metabolism of proteins
(R-HSA-392499)
Metabolism of rna
(R-HSA-8953854)
Mitotic anaphase
(R-HSA-68882)
Mitotic metaphase and anaphase
(R-HSA-2555396)
Mitotic prophase
(R-HSA-68875)
M phase
(R-HSA-68886)
Nep/ns2 interacts with the cellular export machinery
(R-HSA-168333)
Ns1 mediated effects on host pathways
(R-HSA-168276)
Nuclear envelope (ne) reassembly
(R-HSA-2995410)
Nuclear envelope breakdown
(R-HSA-2980766)
Nuclear import of rev protein
(R-HSA-180746)
Nuclear pore complex (npc) disassembly
(R-HSA-3301854)
Post-translational protein modification
(R-HSA-597592)
Postmitotic nuclear pore complex (npc) reformation
(R-HSA-9615933)
Processing of capped intron-containing pre-mrna
(R-HSA-72203)
Regulation of glucokinase by glucokinase regulatory protein
(R-HSA-170822)
Regulation of hsf1-mediated heat shock response
(R-HSA-3371453)
Rev-mediated nuclear export of hiv rna
(R-HSA-165054)
Sars-cov-2 activates/modulates innate and adaptive immune responses
(R-HSA-9705671)
Sars-cov-2 infection
(R-HSA-9694516)
Sars-cov-2-host interactions
(R-HSA-9705683)
Sars-cov infections
(R-HSA-9679506)
Slc transporter disorders
(R-HSA-5619102)
Snrnp assembly
(R-HSA-191859)
Sumo e3 ligases sumoylate target proteins
(R-HSA-3108232)
Sumoylation
(R-HSA-2990846)
Sumoylation of chromatin organization proteins
(R-HSA-4551638)
Sumoylation of dna damage response and repair proteins
(R-HSA-3108214)
Sumoylation of dna replication proteins
(R-HSA-4615885)
Sumoylation of rna binding proteins
(R-HSA-4570464)
Sumoylation of sumoylation proteins
(R-HSA-4085377)
Sumoylation of ubiquitinylation proteins
(R-HSA-3232142)
Transcriptional regulation by small rnas
(R-HSA-5578749)
Transport of mature mrna derived from an intron-containing transcript
(R-HSA-159236)
Transport of mature mrna derived from an intronless transcript
(R-HSA-159231)
Transport of mature mrnas derived from intronless transcripts
(R-HSA-159234)
Transport of mature transcript to cytoplasm
(R-HSA-72202)
Transport of ribonucleoproteins into the host nucleus
(R-HSA-168271)
Transport of the slbp dependant mature mrna
(R-HSA-159230)
Transport of the slbp independent mature mrna
(R-HSA-159227)
Trna processing
(R-HSA-72306)
Trna processing in the nucleus
(R-HSA-6784531)
Viral infection pathways
(R-HSA-9824446)
Viral messenger rna synthesis
(R-HSA-168325)
Vpr-mediated nuclear import of pics
(R-HSA-180910)
Identical protein binding
(GO:0042802)
Mrna transport
(GO:0051028)
Nls-bearing protein import into nucleus
(GO:0006607)
Nuclear envelope
(GO:0005635)
Nuclear membrane
(GO:0031965)
Nuclear pore
(GO:0005643)
Nuclear pore central transport channel
(GO:0044613)
Nuclear pore organization
(GO:0006999)
Nucleocytoplasmic transport
(GO:0006913)
Protein-containing complex binding
(GO:0044877)
Protein binding
(GO:0005515)
Protein localization to nuclear inner membrane
(GO:0036228)
Protein targeting
(GO:0006605)
Regulation of protein import into nucleus
(GO:0042306)
Structural constituent of nuclear pore
(GO:0017056)

Cells (max top 100)

(Cell Significance Index and respective Thresholds are uniquely calculated using our advanced thresholding algorithms to reveal cell-specific gene markers)

Cell Name: polychromatophilic erythroblast (CL0000550)
Fold Change: 215.6286
Cell Significance Index: -33.5400
Cell Name: hematopoietic oligopotent progenitor cell (CL0002032)
Fold Change: 140.9853
Cell Significance Index: -35.7600
Cell Name: smooth muscle fiber of ileum (CL1000278)
Fold Change: 84.9144
Cell Significance Index: -40.0900
Cell Name: mucosal type mast cell (CL0000485)
Fold Change: 82.3616
Cell Significance Index: -33.4600
Cell Name: ciliated cell of the bronchus (CL0002332)
Fold Change: 35.1089
Cell Significance Index: -33.5200
Cell Name: orthochromatic erythroblast (CL0000552)
Fold Change: 31.6881
Cell Significance Index: -39.0700
Cell Name: CD8-alpha-beta-positive, alpha-beta intraepithelial T cell (CL0000796)
Fold Change: 12.7424
Cell Significance Index: -34.1400
Cell Name: stromal cell of bone marrow (CL0010001)
Fold Change: 10.1063
Cell Significance Index: -39.8800
Cell Name: CD8-positive, alpha-beta regulatory T cell (CL0000795)
Fold Change: 8.9990
Cell Significance Index: -27.6400
Cell Name: epidermal Langerhans cell (CL0002457)
Fold Change: 6.9817
Cell Significance Index: -15.2800
Cell Name: epithelial cell of small intestine (CL0002254)
Fold Change: 2.1019
Cell Significance Index: 341.8500
Cell Name: placental villous trophoblast (CL2000060)
Fold Change: 1.5864
Cell Significance Index: 42.3600
Cell Name: conjunctival epithelial cell (CL1000432)
Fold Change: 1.3178
Cell Significance Index: 17.9800
Cell Name: intestinal crypt stem cell of colon (CL0009043)
Fold Change: 1.3176
Cell Significance Index: 143.3200
Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
Fold Change: 1.2720
Cell Significance Index: 255.1700
Cell Name: retinal progenitor cell (CL0002672)
Fold Change: 1.2629
Cell Significance Index: 70.8700
Cell Name: gut absorptive cell (CL0000677)
Fold Change: 1.2491
Cell Significance Index: 74.9900
Cell Name: neoplastic cell (CL0001063)
Fold Change: 0.9607
Cell Significance Index: 190.6500
Cell Name: basal epithelial cell of tracheobronchial tree (CL0002329)
Fold Change: 0.8280
Cell Significance Index: 23.1400
Cell Name: basal cell of prostate epithelium (CL0002341)
Fold Change: 0.7234
Cell Significance Index: 19.6900
Cell Name: microfold cell of epithelium of small intestine (CL1000353)
Fold Change: 0.6125
Cell Significance Index: 42.3600
Cell Name: obsolete caudal ganglionic eminence derived GABAergic cortical interneuron (CL4023070)
Fold Change: 0.6125
Cell Significance Index: 219.7000
Cell Name: stromal cell of ovary (CL0002132)
Fold Change: 0.5357
Cell Significance Index: 73.5600
Cell Name: hair follicular keratinocyte (CL2000092)
Fold Change: 0.5151
Cell Significance Index: 227.7300
Cell Name: GABAergic interneuron (CL0011005)
Fold Change: 0.5068
Cell Significance Index: 350.5000
Cell Name: enteroendocrine cell of small intestine (CL0009006)
Fold Change: 0.5063
Cell Significance Index: 12.6600
Cell Name: basal cell of urothelium (CL1000486)
Fold Change: 0.4887
Cell Significance Index: 60.1000
Cell Name: intermediate cell of urothelium (CL4030055)
Fold Change: 0.4708
Cell Significance Index: 84.8700
Cell Name: preadipocyte (CL0002334)
Fold Change: 0.4632
Cell Significance Index: 9.0400
Cell Name: paneth cell of epithelium of small intestine (CL1000343)
Fold Change: 0.4394
Cell Significance Index: 9.5200
Cell Name: enterocyte of epithelium of large intestine (CL0002071)
Fold Change: 0.4201
Cell Significance Index: 19.0400
Cell Name: skeletal muscle fiber (CL0008002)
Fold Change: 0.4159
Cell Significance Index: 10.6900
Cell Name: cell in vitro (CL0001034)
Fold Change: 0.3741
Cell Significance Index: 204.3100
Cell Name: cardiac muscle myoblast (CL0000513)
Fold Change: 0.3417
Cell Significance Index: 26.2200
Cell Name: sebum secreting cell (CL0000317)
Fold Change: 0.3294
Cell Significance Index: 23.3000
Cell Name: bladder urothelial cell (CL1001428)
Fold Change: 0.3167
Cell Significance Index: 16.4500
Cell Name: enterocyte of epithelium of small intestine (CL1000334)
Fold Change: 0.3124
Cell Significance Index: 9.0000
Cell Name: forebrain neuroblast (CL1000042)
Fold Change: 0.3039
Cell Significance Index: 18.6800
Cell Name: colon goblet cell (CL0009039)
Fold Change: 0.2330
Cell Significance Index: 23.0500
Cell Name: mesenchymal cell (CL0008019)
Fold Change: 0.2097
Cell Significance Index: 3.5100
Cell Name: tuft cell of colon (CL0009041)
Fold Change: 0.2063
Cell Significance Index: 186.3200
Cell Name: granulosa cell (CL0000501)
Fold Change: 0.2027
Cell Significance Index: 5.3300
Cell Name: luminal adaptive secretory precursor cell of mammary gland (CL4033057)
Fold Change: 0.1875
Cell Significance Index: 8.8100
Cell Name: early pro-B cell (CL0002046)
Fold Change: 0.1842
Cell Significance Index: 11.8900
Cell Name: mesonephric nephron tubule epithelial cell (CL1000022)
Fold Change: 0.1669
Cell Significance Index: 5.8000
Cell Name: indirect pathway medium spiny neuron (CL4023029)
Fold Change: 0.1295
Cell Significance Index: 5.7300
Cell Name: acinar cell of salivary gland (CL0002623)
Fold Change: 0.1263
Cell Significance Index: 5.8900
Cell Name: enteroendocrine cell of colon (CL0009042)
Fold Change: 0.1154
Cell Significance Index: 21.9700
Cell Name: fibroblast of mammary gland (CL0002555)
Fold Change: 0.1113
Cell Significance Index: 3.1900
Cell Name: tonsil germinal center B cell (CL2000006)
Fold Change: 0.1068
Cell Significance Index: 12.5900
Cell Name: odontoblast (CL0000060)
Fold Change: 0.0965
Cell Significance Index: 12.3700
Cell Name: lactocyte (CL0002325)
Fold Change: 0.0830
Cell Significance Index: 10.7300
Cell Name: non-pigmented ciliary epithelial cell (CL0002304)
Fold Change: 0.0668
Cell Significance Index: 42.4200
Cell Name: pigmented epithelial cell (CL0000529)
Fold Change: 0.0621
Cell Significance Index: 116.9600
Cell Name: small intestine goblet cell (CL1000495)
Fold Change: 0.0579
Cell Significance Index: 2.0400
Cell Name: hippocampal granule cell (CL0001033)
Fold Change: 0.0531
Cell Significance Index: 3.5700
Cell Name: direct pathway medium spiny neuron (CL4023026)
Fold Change: 0.0514
Cell Significance Index: 1.9500
Cell Name: ciliary muscle cell (CL1000443)
Fold Change: 0.0404
Cell Significance Index: 18.3200
Cell Name: anterior lens cell (CL0002223)
Fold Change: 0.0184
Cell Significance Index: 33.9200
Cell Name: lens epithelial cell (CL0002224)
Fold Change: 0.0119
Cell Significance Index: 18.3500
Cell Name: pancreatic acinar cell (CL0002064)
Fold Change: -0.0002
Cell Significance Index: -0.0300
Cell Name: eye photoreceptor cell (CL0000287)
Fold Change: -0.0009
Cell Significance Index: -0.0500
Cell Name: secondary lens fiber (CL0002225)
Fold Change: -0.0188
Cell Significance Index: -25.6100
Cell Name: pigmented ciliary epithelial cell (CL0002303)
Fold Change: -0.0286
Cell Significance Index: -4.1600
Cell Name: kidney loop of Henle cortical thick ascending limb epithelial cell (CL1001109)
Fold Change: -0.0368
Cell Significance Index: -26.9800
Cell Name: pulmonary alveolar epithelial cell (CL0000322)
Fold Change: -0.0382
Cell Significance Index: -28.9200
Cell Name: pancreatic A cell (CL0000171)
Fold Change: -0.0399
Cell Significance Index: -29.5200
Cell Name: fibroblast of dermis (CL0002551)
Fold Change: -0.0401
Cell Significance Index: -0.8400
Cell Name: cerebellar granule cell (CL0001031)
Fold Change: -0.0514
Cell Significance Index: -0.8800
Cell Name: progenitor cell of mammary luminal epithelium (CL0009116)
Fold Change: -0.0617
Cell Significance Index: -4.6000
Cell Name: type B pancreatic cell (CL0000169)
Fold Change: -0.0678
Cell Significance Index: -38.2500
Cell Name: pancreatic PP cell (CL0002275)
Fold Change: -0.0712
Cell Significance Index: -44.4800
Cell Name: abnormal cell (CL0001061)
Fold Change: -0.0859
Cell Significance Index: -8.7700
Cell Name: intestinal crypt stem cell of small intestine (CL0009017)
Fold Change: -0.0925
Cell Significance Index: -1.9700
Cell Name: pancreatic ductal cell (CL0002079)
Fold Change: -0.0995
Cell Significance Index: -11.4000
Cell Name: dopaminergic neuron (CL0000700)
Fold Change: -0.1167
Cell Significance Index: -33.5700
Cell Name: epithelial cell of stomach (CL0002178)
Fold Change: -0.1865
Cell Significance Index: -21.7400
Cell Name: pancreatic D cell (CL0000173)
Fold Change: -0.2037
Cell Significance Index: -42.9100
Cell Name: endothelial cell of placenta (CL0009092)
Fold Change: -0.2085
Cell Significance Index: -1.2600
Cell Name: transit amplifying cell of colon (CL0009011)
Fold Change: -0.2173
Cell Significance Index: -6.9600
Cell Name: retinal rod cell (CL0000604)
Fold Change: -0.2806
Cell Significance Index: -3.3500
Cell Name: lung endothelial cell (CL1001567)
Fold Change: -0.3132
Cell Significance Index: -16.3100
Cell Name: smooth muscle cell of sphincter of pupil (CL0002243)
Fold Change: -0.3249
Cell Significance Index: -33.8300
Cell Name: cortical cell of adrenal gland (CL0002097)
Fold Change: -0.3891
Cell Significance Index: -10.4300
Cell Name: leptomeningeal cell (CL0000708)
Fold Change: -0.4042
Cell Significance Index: -8.6400
Cell Name: cortical interneuron (CL0008031)
Fold Change: -0.4236
Cell Significance Index: -10.1600
Cell Name: kidney loop of Henle descending limb epithelial cell (CL1001021)
Fold Change: -0.4342
Cell Significance Index: -34.3900
Cell Name: glycinergic neuron (CL1001509)
Fold Change: -0.4602
Cell Significance Index: -24.1600
Cell Name: pro-T cell (CL0000827)
Fold Change: -0.4615
Cell Significance Index: -11.7900
Cell Name: Purkinje cell (CL0000121)
Fold Change: -0.5165
Cell Significance Index: -11.3100
Cell Name: CD4-positive, alpha-beta memory T cell, CD45RO-positive (CL0001204)
Fold Change: -0.5342
Cell Significance Index: -15.6900
Cell Name: paneth cell of colon (CL0009009)
Fold Change: -0.5352
Cell Significance Index: -8.0200
Cell Name: intestinal tuft cell (CL0019032)
Fold Change: -0.5503
Cell Significance Index: -33.7400
Cell Name: BEST4+ enteroycte (CL4030026)
Fold Change: -0.5886
Cell Significance Index: -8.8700
Cell Name: intestinal epithelial cell (CL0002563)
Fold Change: -0.6115
Cell Significance Index: -6.3300
Cell Name: neutrophil progenitor cell (CL0000834)
Fold Change: -0.6682
Cell Significance Index: -17.8800
Cell Name: pvalb GABAergic cortical interneuron (CL4023018)
Fold Change: -0.6756
Cell Significance Index: -14.3400
Cell Name: peg cell (CL4033014)
Fold Change: -0.6879
Cell Significance Index: -15.8900
Cell Name: corticothalamic-projecting glutamatergic cortical neuron (CL4023013)
Fold Change: -0.7049
Cell Significance Index: -22.4500
Cell Name: L6b glutamatergic cortical neuron (CL4023038)
Fold Change: -0.7627
Cell Significance Index: -24.9700

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this specific cell.

**Key characteristics** NUP54 is a member of the nucleoporin family, which is a group of proteins that form the nuclear pore complex (NPC). The NPC is a critical structure responsible for the transport of molecules between the nucleus and cytoplasm. NUP54 is specifically involved in the transport of proteins and RNAs across the NPC, facilitating their movement into or out of the nucleus. This protein has a unique structure, consisting of multiple domains that interact with other proteins and RNAs, enabling its specific functions. **Pathways and functions** NUP54 is involved in several cellular and viral pathways, including: 1. **Nuclear import**: NUP54 facilitates the transport of proteins and RNAs into the nucleus, regulating gene expression and cellular signaling. 2. **Viral replication**: NUP54 is essential for the replication of viruses such as HIV, HCMV, and SARS-CoV-2, allowing them to hijack host cellular machinery for their own benefit. 3. **Antiviral response**: NUP54 can also regulate the antiviral response by interacting with interferon-stimulated genes, which are critical for the host's defense against viral infections. 4. **Cell cycle regulation**: NUP54 plays a role in regulating the cell cycle, particularly during the mitotic phase, by controlling the transport of proteins and RNAs involved in cell division. **Clinical significance** Dysregulation of NUP54 has been implicated in various diseases, including: 1. **Thyroid papillary carcinoma**: Mutations in the NUP54 gene have been associated with an increased risk of developing thyroid papillary carcinoma, a type of thyroid cancer. 2. **Infectious diseases**: NUP54 has been shown to play a role in the replication of HIV, HCMV, and SARS-CoV-2, highlighting its importance in understanding the pathogenesis of these diseases. 3. **Cancer**: NUP54's role in regulating gene expression and cell cycle progression makes it a potential target for cancer therapy. 4. **Neurological disorders**: NUP54's involvement in the transport of proteins and RNAs across the nuclear envelope suggests its potential role in neurological disorders, such as Alzheimer's disease and Parkinson's disease. In conclusion, NUP54 is a multifunctional protein that plays a critical role in regulating various cellular and viral processes. Its dysregulation has been linked to various diseases, highlighting the importance of understanding its functions and mechanisms in the context of human health and disease.

Disclaimer: This summary is generated by an AI language model and may contain inaccuracies or hallucinations. However, it is cross-referenced with curated gene expression data from major biological sources. Please verify the information before use.

Nucleoporin p54

Genular Protein ID: 2879821269

Symbol: NUP54_HUMAN

Name: Nucleoporin p54

UniProtKB Accession Codes:

Q7Z3B4 B2RCK7 B4DT35 Q96EA7 Q9NVL5 Q9P0I1

Database IDs:

Citations:

PubMed ID: 10931946

Title: Gene expression profiling in the human hypothalamus-pituitary-adrenal axis and full-length cDNA cloning.

PubMed ID: 10931946

DOI: 10.1073/pnas.160270997

PubMed ID: 14702039

Title: Complete sequencing and characterization of 21,243 full-length human cDNAs.

PubMed ID: 14702039

DOI: 10.1038/ng1285

PubMed ID: 17974005

Title: The full-ORF clone resource of the German cDNA consortium.

PubMed ID: 17974005

DOI: 10.1186/1471-2164-8-399

PubMed ID: 15815621

Title: Generation and annotation of the DNA sequences of human chromosomes 2 and 4.

PubMed ID: 15815621

DOI: 10.1038/nature03466

PubMed ID: 21269460

Title: Initial characterization of the human central proteome.

PubMed ID: 21269460

DOI: 10.1186/1752-0509-5-17

PubMed ID: 36333996

Title: Recessive NUP54 Variants Underlie Early-Onset Dystonia with Striatal Lesions.

PubMed ID: 36333996

DOI: 10.1002/ana.26544

Sequence Information:

Length: 507
Mass: 55435
Checksum: B5D235E01F1FE467
Sequence:

MAFNFGAPSG TSGTAAATAA PAGGFGGFGT TSTTAGSAFS FSAPTNTGTT GLFGGTQNKG 
FGFGTGFGTT TGTSTGLGTG LGTGLGFGGF NTQQQQQTTL GGLFSQPTQA PTQSNQLINT 
ASALSAPTLL GDERDAILAK WNQLQAFWGT GKGYFNNNIP PVEFTQENPF CRFKAVGYSC 
MPSNKDEDGL VVLVFNKKET EIRSQQQQLV ESLHKVLGGN QTLTVNVEGT KTLPDDQTEV 
VIYVVERSPN GTSRRVPATT LYAHFEQANI KTQLQQLGVT LSMTRTELSP AQIKQLLQNP 
PAGVDPIIWE QAKVDNPDSE KLIPVPMVGF KELLRRLKVQ DQMTKQHQTR LDIISEDISE 
LQKNQTTSVA KIAQYKRKLM DLSHRTLQVL IKQEIQRKSG YAIQADEEQL RVQLDTIQGE 
LNAPTQFKGR LNELMSQIRM QNHFGAVRSE ERYYIDADLL REIKQHLKQQ QEGLSHLISI 
IKDDLEDIKL VEHGLNETIH IRGGVFS

Database document:

This is a preview of the gene's schema. Only a few entries are kept for 'singleCellExpressions,' 'mRNAExpressions,' and other large data arrays for visualization purposes. You can zoom in with the mouse wheel for a closer view, and the text will adjust automatically if necessary. For the full schema, download it here.

Details for: NUP54

Associated with

Cells (max top 100)

Other Information

Gene expression profiling in the human hypothalamus-pituitary-adrenal axis and full-length cDNA cloning. PubMed ID: 10931946

Complete sequencing and characterization of 21,243 full-length human cDNAs. PubMed ID: 14702039

The full-ORF clone resource of the German cDNA consortium. PubMed ID: 17974005

Generation and annotation of the DNA sequences of human chromosomes 2 and 4. PubMed ID: 15815621

Initial characterization of the human central proteome. PubMed ID: 21269460