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Gene Gene information from NCBI Gene database.
Entrez ID 7514
Gene name Exportin 1
Gene symbol XPO1
Synonyms (NCBI Gene)
CRM-1CRM1embexp1
Chromosome 2
Chromosome location 2p15
Summary This cell-cycle-regulated gene encodes a protein that mediates leucine-rich nuclear export signal (NES)-dependent protein transport. The protein specifically inhibits the nuclear export of Rev and U snRNAs. It is involved in the control of several cellula
SNPs SNP information provided by dbSNP.
2
SNP ID Visualize variation Clinical significance Consequence
rs1057520009 C>T Likely-pathogenic Missense variant, coding sequence variant
rs1057520010 T>A,G Likely-pathogenic Missense variant, coding sequence variant
miRNA miRNA information provided by mirtarbase database.
229 Show/Hide all (229)
miRTarBase ID miRNA Experiments Reference
MIRT016294 hsa-miR-193b-3p Proteomics 21512034
MIRT020549 hsa-miR-155-5p Proteomics 18668040
MIRT026224 hsa-miR-192-5p Microarray 19074876
MIRT028476 hsa-miR-30a-5p Proteomics 18668040
MIRT031490 hsa-miR-16-5p Proteomics 18668040
Transcription factors Transcription factors information provided by TRRUST V2 database.
2
Transcription factor Regulation Reference
MYC Activation 22284678
TP53 Repression 22284678
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
60 Show/Hide all (60)
GO ID Ontology Definition Evidence Reference
GO:0000054 Process Ribosomal subunit export from nucleus IMP 12724356
GO:0000055 Process Ribosomal large subunit export from nucleus IBA
GO:0000055 Process Ribosomal large subunit export from nucleus IMP 12773398
GO:0000056 Process Ribosomal small subunit export from nucleus IBA
GO:0000056 Process Ribosomal small subunit export from nucleus IMP 12773398
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
602559 12825 ENSG00000082898
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
O14980
Protein name Exportin-1 (Exp1) (Chromosome region maintenance 1 protein homolog)
Protein function Mediates the nuclear export of cellular proteins (cargos) bearing a leucine-rich nuclear export signal (NES) and of RNAs. In the nucleus, in association with RANBP3, binds cooperatively to the NES on its target protein and to the GTPase RAN in i
PDB 1W9C , 2L1L , 3GB8 , 4BSM , 4BSN , 5DIS , 6TVO , 7B51 , 9B62
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF03810 IBN_N 46 → 112 Importin-beta N-terminal domain Family
PF08389 Xpo1 123 → 268 Exportin 1-like protein Family
PF08767 CRM1_C 709 → 1027 CRM1 C terminal Family
PF18777 CRM1_repeat 345 → 381 Chromosome region maintenance or exportin repeat Repeat
PF18784 CRM1_repeat_2 405 → 472 CRM1 / Exportin repeat 2 Repeat
PF18787 CRM1_repeat_3 485 → 535 CRM1 / Exportin repeat 3 Repeat
Tissue specificity TISSUE SPECIFICITY: Expressed in heart, brain, placenta, lung, liver, skeletal muscle, pancreas, spleen, thymus, prostate, testis, ovary, small intestine, colon and peripheral blood leukocytes. Not expressed in the kidney. {ECO:0000269|PubMed:9049309, ECO
Sequence
Sequence length 1071
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
KEGG Pathway Reactome Pathway
Ribosome biogenesis in eukaryotes Amplification of signal from unattached kinetochores via a MAD2 inhibitory signal
Nucleocytoplasmic transport Rev-mediated nuclear export of HIV RNA
Viral life cycle - HIV-1 NEP/NS2 Interacts with the Cellular Export Machinery
Influenza A Separation of Sister Chromatids
Human T-cell leukemia virus 1 infection Resolution of Sister Chromatid Cohesion
  Deactivation of the beta-catenin transactivating complex
  HuR (ELAVL1) binds and stabilizes mRNA
  RHO GTPases Activate Formins
  MAPK6/MAPK4 signaling
  Mitotic Prometaphase
  Cyclin A/B1/B2 associated events during G2/M transition
  Estrogen-dependent nuclear events downstream of ESR-membrane signaling
  EML4 and NUDC in mitotic spindle formation
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
8
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)
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 (8)
Phenotype Name Clinical Significance Source Reference Evidence Score
ATRIAL FIBRILLATION — CTD, Disgenet, GWAS catalog
CTD, Disgenet, GWAS catalog
CTD, Disgenet, GWAS catalog
29892015, 40050429, 40645996
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CROHN'S DISEASE — GWAS catalog 37262302
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
HYPERTENSION — GWAS catalog 38965376
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
INFLAMMATORY BOWEL DISEASE — GWAS catalog 37262302
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Neoplasm - ClinVar —
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Show/Hide Text Mining Associations (162)
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Acute lymphocytic leukemia Lymphocytic Leukemia BEFREE 23970380, 27780859
★★★★★
★☆☆☆☆
Found in Text Mining only
Acute monocytic leukemia Monocytic Leukemia BEFREE 27211268
★★★★★
★☆☆☆☆
Found in Text Mining only
Acute Promyelocytic Leukemia Promyelocytic Leukemia BEFREE 31088931
★★★★★
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma of pancreas Pancreatic adenocarcinoma BEFREE 29765539
★★★★★
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma of prostate Prostate adenocarcinoma CLINVAR_DG 26619011
★★★★★
★☆☆☆☆
Found in Text Mining only
Adenomatous Polyposis Coli Multiple polyposis syndrome BEFREE 12070164, 15678162
★★★★★
★☆☆☆☆
Found in Text Mining only
Adult Acute Lymphocytic Leukemia Lymphocytic Leukemia BEFREE 23970380, 27780859
★★★★★
★☆☆☆☆
Found in Text Mining only
Adult Diffuse Large B-Cell Lymphoma B-cell Lymphoma BEFREE 28196522
★★★★★
★☆☆☆☆
Found in Text Mining only
Adult Hodgkin Lymphoma Hodgkin Lymphoma BEFREE 27312795
★★★★★
★☆☆☆☆
Found in Text Mining only
Adult T-Cell Lymphoma/Leukemia T-Cell Lymphoma/Leukemia BEFREE 16504563, 17360758
★★★★★
★☆☆☆☆
Found in Text Mining only