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Gene Gene information from NCBI Gene database.
Entrez ID 9631
Gene name Nucleoporin 155
Gene symbol NUP155
Synonyms (NCBI Gene)
ATFB15N155
Chromosome 5
Chromosome location 5p13.2
Summary Nucleoporins are proteins that play an important role in the assembly and functioning of the nuclear pore complex (NPC) which regulates the movement of macromolecules across the nuclear envelope (NE). The protein encoded by this gene plays a role in the f
SNPs SNP information provided by dbSNP.
1
SNP ID Visualize variation Clinical significance Consequence
rs587777339 C>T Pathogenic Non coding transcript variant, coding sequence variant, missense variant
miRNA miRNA information provided by mirtarbase database.
327 Show/Hide all (327)
miRTarBase ID miRNA Experiments Reference
MIRT020631 hsa-miR-155-5p Proteomics 18668040
MIRT032245 hsa-let-7b-5p Proteomics 18668040
MIRT032245 hsa-let-7b-5p CLASH 23622248
MIRT051557 hsa-let-7e-5p CLASH 23622248
MIRT051254 hsa-miR-16-5p CLASH 23622248
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
29 Show/Hide all (29)
GO ID Ontology Definition Evidence Reference
GO:0000972 Process Transcription-dependent tethering of RNA polymerase II gene DNA at nuclear periphery IBA
GO:0005515 Function Protein binding IPI 25416956, 29568061, 30488537
GO:0005634 Component Nucleus IEA
GO:0005635 Component Nuclear envelope IDA 19070573, 24315095
GO:0005635 Component Nuclear envelope IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
606694 8063 ENSG00000113569
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
O75694
Protein name Nuclear pore complex protein Nup155 (155 kDa nucleoporin) (Nucleoporin Nup155)
Protein function Essential component of nuclear pore complex. Could be essessential for embryogenesis. Nucleoporins may be involved both in binding and translocating proteins during nucleocytoplasmic transport.
PDB 5A9Q , 5IJN , 5IJO , 7EYE , 7EYF , 7EYQ , 7PER , 7R1Y , 7R5J , 7R5K
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF03177 Nucleoporin_C 739 → 1200 Non-repetitive/WGA-negative nucleoporin C-terminal Family
PF08801 Nucleoporin_N 77 → 510 Nup133 N terminal like Domain
Tissue specificity TISSUE SPECIFICITY: Expressed in all tissues tested, including heart, brain, placenta, lung, liver, skeletal muscle, kidney and pancreas.
Sequence
Sequence length 1391
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
KEGG Pathway Reactome Pathway
Nucleocytoplasmic transport ISG15 antiviral mechanism
Amyotrophic lateral sclerosis Transport of the SLBP independent Mature mRNA
  Transport of the SLBP Dependant Mature mRNA
  Transport of Mature mRNA Derived from an Intronless Transcript
  Transport of Mature mRNA derived from an Intron-Containing Transcript
  Rev-mediated nuclear export of HIV RNA
  Transport of Ribonucleoproteins into the Host Nucleus
  NS1 Mediated Effects on Host Pathways
  Viral Messenger RNA Synthesis
  NEP/NS2 Interacts with the Cellular Export Machinery
  Regulation of Glucokinase by Glucokinase Regulatory Protein
  Vpr-mediated nuclear import of PICs
  snRNP Assembly
  SUMOylation of DNA damage response and repair proteins
  SUMOylation of ubiquitinylation proteins
  Nuclear Pore Complex (NPC) Disassembly
  Regulation of HSF1-mediated heat shock response
  SUMOylation of SUMOylation proteins
  SUMOylation of chromatin organization proteins
  SUMOylation of RNA binding proteins
  SUMOylation of DNA replication proteins
  Transcriptional regulation by small RNAs
  Defective TPR may confer susceptibility towards thyroid papillary carcinoma (TPC)
  tRNA processing in the nucleus
  HCMV Early Events
  HCMV Late Events
  Postmitotic nuclear pore complex (NPC) reformation
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
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Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
Atrial fibrillation, familial, 15 Pathogenic rs587777339 RCV000114997
★★★★★
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Show/Hide Unknown Diseases (33)
Phenotype Name Clinical Significance Source Reference Evidence Score
ALZHEIMER DISEASE — GWAS catalog 39998322
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ATRIAL FIBRILLATION, FAMILIAL 1 — Disgenet —
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ATRIAL FIBRILLATION, FAMILIAL, 10 — Disgenet —
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ATRIAL FIBRILLATION, FAMILIAL, 11 — Disgenet —
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ATRIAL FIBRILLATION, FAMILIAL, 12 — Disgenet —
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Show/Hide Text Mining Associations (18)
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Arrhythmias Cardiac Cardiac arrhythmias Pubtator 25602437, 27707468 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Atrial Fibrillation Atrial Fibrillation BEFREE 19070573, 29848314, 30488537
★★★★★
★☆☆☆☆
Found in Text Mining only
Atrial Fibrillation Atrial Fibrillation LHGDN 19070573
★★★★★
★☆☆☆☆
Found in Text Mining only
Atrial Fibrillation Atrial fibrillation Pubtator 21924735 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Atrial Fibrillation Atrial Fibrillation HPO_DG
★★★★★
★☆☆☆☆
Found in Text Mining only
ATRIAL FIBRILLATION, FAMILIAL, 1 (disorder) Atrial Fibrillation ORPHANET_DG 19070573
★★★★★
★☆☆☆☆
Found in Text Mining only
ATRIAL FIBRILLATION, FAMILIAL, 15 Atrial Fibrillation UNIPROT_DG 19070573
★★★★★
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
ATRIAL FIBRILLATION, FAMILIAL, 15 Atrial Fibrillation CTD_human_DG
★★★★★
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
ATRIAL FIBRILLATION, FAMILIAL, 15 Atrial Fibrillation CLINVAR_DG
★★★★★
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Brugada Syndrome Brugada syndrome Pubtator 27707468 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only