NUP107 (nucleoporin 107)

Gene
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
57122
Gene name Gene Name - the full gene name approved by the HGNC.
Nucleoporin 107
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
NUP107
Synonyms (NCBI Gene) Gene synonyms aliases
GAMOS7, NPHS11, NUP84, ODG6, ODG6; GAMOS7
Chromosome Chromosome number
12
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
12q15
Summary Summary of gene provided in NCBI Entrez Gene.
This gene encodes a member of the nucleoporin family. The protein is localized to the nuclear rim and is an essential component of the nuclear pore complex (NPC). All molecules entering or leaving the nucleus either diffuse through or are actively transpo
SNPs SNP information provided by dbSNP.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(9)
SNP ID Visualize variation Clinical significance Consequence
rs201609471 A>G Conflicting-interpretations-of-pathogenicity Missense variant, 5 prime UTR variant, coding sequence variant
rs730882216 G>A Likely-pathogenic, pathogenic Coding sequence variant, missense variant
rs745342141 G>A Pathogenic Coding sequence variant, missense variant
rs864321632 A>C Pathogenic Missense variant, coding sequence variant
rs864321633 G>T Pathogenic Missense variant, coding sequence variant
miRNA miRNA information provided by mirtarbase database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(12)
miRTarBase ID miRNA Experiments Reference
MIRT028013 hsa-miR-93-5p Sequencing 20371350
MIRT1198978 hsa-miR-188-5p CLIP-seq
MIRT1198979 hsa-miR-3162-3p CLIP-seq
MIRT1198980 hsa-miR-3919 CLIP-seq
MIRT1198981 hsa-miR-4477a CLIP-seq
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(34)
GO ID Ontology Definition Evidence Reference
GO:0000775 Component Chromosome, centromeric region IEA
GO:0000776 Component Kinetochore IDA 17363900
GO:0000776 Component Kinetochore IEA
GO:0000973 Process Post-transcriptional tethering of RNA polymerase II gene DNA at nuclear periphery IBA
GO:0005515 Function Protein binding IPI 11564755, 15146057, 17363900, 24407287, 26411495, 26496610, 27194810, 30179222, 33961781, 35271311
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
607617 29914 ENSG00000111581
Protein
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID P57740
Protein name Nuclear pore complex protein Nup107 (107 kDa nucleoporin) (Nucleoporin Nup107)
Protein function Plays a role in the nuclear pore complex (NPC) assembly and/or maintenance (PubMed:12552102, PubMed:15229283, PubMed:30179222). Required for the assembly of peripheral proteins into the NPC (PubMed:12552102, PubMed:15229283). May anchor NUP62 to
PDB 3CQC , 3CQG , 3I4R , 5A9Q , 7PEQ , 7R5J , 7R5K
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF04121 Nup84_Nup100 209 → 908 Nuclear pore protein 84 / 107 Family
Tissue specificity TISSUE SPECIFICITY: Ubiquitously expressed in fetal and adult tissues. {ECO:0000269|PubMed:26411495}.
Sequence 
MDRSGFGEISSPVIREAEVTRTARKQSAQKRVLLQASQDENFGNTTPRNQVIPRTPSSFR
QPFTPTSRSLLRQPDISCILGTGGKSPRLTQSSGFFGNLSMVTNLDDSNWAAAFSSQRSG
LFTNTEPHSITEDVTISAVMLREDDPGEAASMSMFSDFLQSFLKHSSSTVFDLVEEYENI
CGSQVNILSKIVSRATPGLQKFSKTASMLWLLQQEMVTWRLLASLYRDRIQSALEEESVF
AVTAVNASEKTVVEALFQRDSLVRQSQLVVDWLESIAKDEIGEFSDNIEFYAKSVYWENT
LHTLKQRQLTSYVGSVRPLVTELDPDAPIRQKMPLDDLDREDEVRLLKYLFTLIRAGMTE
EAQRLCKRCGQAWRAATLEGWKLYHDPNVNGGTELEPVEGNPYRRIWKISCWRMAEDELF
NRYERAIYAALSGNLKQLLPVCDTWEDTVWAYFRVMVDSLVEQEIQTSVATLDETEELPR
EYLGANWTLEKVFEELQATDKKRVLEENQEHYHIVQKFLILGDIDGLMDEFSKWLSKSRN
NLPGHLLRFMTHLILFFRTLGLQTKEEVSIEVLKTYIQLLIREKHTNLIAFYTCHLPQDL
AVAQYALFLESVTEFEQRHHCLELAKEADLDVATITKTVVENIRKKDNGEFSHHDLAPAL
DTGTTEEDRLKIDVIDWLVFDPAQRAEALKQGNAIMRKFLASKKHEAAKEVFVKIPQDSI
AEIYNQCEEQGMESPLPAEDDNAIREHLCIRAYLEAHETFNEWFKHMNSVPQKPALIPQP
TFTEKVAHEHKEKKYEMDFGIWKGHLDALTADVKEKMYNVLLFVDGGWMVDVREDAKEDH
ERTHQMVLLRKLCLPMLCFLLHTILHSTGQYQECLQLADMVSSERHKLYLVFSKEELRKL
LQKLRESSLMLLDQGLDPLGYEIQL
Sequence length 925
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
  KEGG   Reactome
  Nucleocytoplasmic transport
Amyotrophic lateral sclerosis 		  ISG15 antiviral mechanism
Amplification of signal from unattached kinetochores via a MAD2 inhibitory signal
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
Separation of Sister Chromatids
Resolution of Sister Chromatid Cohesion
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)
RHO GTPases Activate Formins
tRNA processing in the nucleus
Mitotic Prometaphase
HCMV Early Events
HCMV Late Events
Postmitotic nuclear pore complex (NPC) reformation
EML4 and NUDC in mitotic spindle formation
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Causal Diseases (3)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
Galloway-Mowat Syndrome Galloway-Mowat syndrome 7 rs745342141, rs730882216 N/A
Nephrotic Syndrome nephrotic syndrome, type 11 rs864321687, rs864321688, rs864321633, rs1565707103, rs864321632 N/A
Ovarian Dysgenesis ovarian dysgenesis 6 rs1555178358 N/A
Show/Hide Unknown Diseases (1)
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Gonadal Dysgenesis 46 XX gonadal dysgenesis N/A N/A GenCC
Show/Hide Text Mining Associations (14)
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Adenocarcinoma Stimulate 21094583
Arrhythmias Cardiac Associate 25602437
Astrocytoma Associate 37162029
Carcinoma Hepatocellular Associate 36952458
Carcinoma Pancreatic Ductal Associate 29671412
Colorectal Neoplasms Associate 32815531
Death Sudden Associate 25602437
Glomerulosclerosis Focal Segmental Associate 37565816
Liposarcoma Associate 22034177
Lung Neoplasms Associate 21094583