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This gene encodes a protein component of the Nup107-160 subunit of the nuclear pore complex. Nuclear pore complexes are embedded in the nuclear envelope and promote bidirectional transport of macromolecules between the cytoplasm and nucleus. The encoded protein can also bind to the C-terminus of chemokine (C-C motif) receptor 2 (CCR2) and promote chemotaxis of monocytes, thereby participating in the inflammatory response. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2014]
NUP85 (Nucleoporin 85) is a Protein Coding gene. Diseases associated with NUP85 include Nephrotic Syndrome, Type 17 and Genetic Steroid-Resistant Nephrotic Syndrome. Among its related pathways are Transport of the SLBP independent Mature mRNA and Signaling by GPCR.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005515 | protein binding | IPI | 15146057 |
GO:0017056 | structural constituent of nuclear pore | IEA,IBA | 21873635 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000775 | chromosome, centromeric region | IEA | -- |
GO:0000776 | colocalizes_with kinetochore | IEA,IDA | 15146057 |
GO:0000777 | condensed chromosome kinetochore | IEA | -- |
GO:0005634 | nucleus | IEA | -- |
GO:0005635 | nuclear envelope | TAS | -- |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Transport of the SLBP independent Mature mRNA |
.55
|
|
2 | HIV Life Cycle |
.91
.65
|
.45
|
3 | Cell Cycle, Mitotic |
.83
|
.60
|
4 | Mitotic Prophase |
.57
|
|
5 | Influenza Viral RNA Transcription and Replication |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0006110 | regulation of glycolytic process | TAS | -- |
GO:0006406 | mRNA export from nucleus | IBA,TAS | -- |
GO:0006409 | tRNA export from nucleus | TAS | -- |
GO:0006606 | protein import into nucleus | IBA | 21873635 |
GO:0006913 | nucleocytoplasmic transport | IEA | -- |
ExUns: | 1a | · | 1b | · | 1c | ^ | 2 | ^ | 3 | ^ | 4 | ^ | 5 | ^ | 6 | ^ | 7 | ^ | 8a | · | 8b | ^ | 9a | · | 9b | ^ | 10a | · | 10b | ^ | 11 | ^ | 12 | ^ | 13a | · | 13b | ^ | 14 | ^ | 15a | · | 15b | ^ | 16a | · | 16b | · | 16c | ^ | 17 | ^ |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | - | |||||||||||||||||||||||||||||||||||||||||||||||||||
SP2: | - | |||||||||||||||||||||||||||||||||||||||||||||||||||
SP3: | - | - | - | |||||||||||||||||||||||||||||||||||||||||||||||||
SP4: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
SP5: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
SP6: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
SP7: |
ExUns: | 18 | ^ | 19 | ^ | 20 |
---|---|---|---|---|---|
SP1: | |||||
SP2: | |||||
SP3: | |||||
SP4: | |||||
SP5: | |||||
SP6: | |||||
SP7: |
This gene was present in the common ancestor of eukaryotes.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | NUP85 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | NUP85 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | NUP85 30 31 |
|
OneToOne | |
Oppossum (Monodelphis domestica) |
Mammalia | NUP85 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Nup85 30 |
|
||
Mouse (Mus musculus) |
Mammalia | Nup85 30 17 31 |
|
OneToOne | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | NUP85 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | NUP85 30 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | NUP85 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | nup85 30 |
|
||
African clawed frog (Xenopus laevis) |
Amphibia | Xl.14618 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | nup85 30 31 |
|
OneToOne | |
Rainbow Trout (Oncorhynchus mykiss) |
Actinopterygii | Omy.10923 30 |
|
||
Fruit Fly (Drosophila melanogaster) |
Insecta | Nup75 30 31 |
|
OneToOne | |
African malaria mosquito (Anopheles gambiae) |
Insecta | AgaP_AGAP012362 30 |
|
||
Worm (Caenorhabditis elegans) |
Secernentea | npp-2 30 31 |
|
OneToOne | |
Thale Cress (Arabidopsis thaliana) |
eudicotyledons | AT4G32910 30 |
|
||
Rice (Oryza sativa) |
Liliopsida | Os01g0746200 30 |
|
||
Sea Squirt (Ciona savignyi) |
Ascidiacea | -- 31 |
|
OneToOne |
SNP ID | Clinical significance and condition | Chr 17 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
rs1321552081 | Likely Pathogenic: NEPHROTIC SYNDROME, TYPE 17 | 75,234,762(+) | G/C | MISSENSE_VARIANT | |
rs1568070817 | Pathogenic: NEPHROTIC SYNDROME, TYPE 17 | 75,213,120(+) | G/A | SPLICE_DONOR_VARIANT | |
rs1568094661 | Uncertain Significance: NEPHROTIC SYNDROME, TYPE 17 | 75,232,884(+) | C/T | MISSENSE_VARIANT | |
rs368572297 | Likely Pathogenic: NEPHROTIC SYNDROME, TYPE 17. Nephrotic syndrome 17 (NPHS17) [MIM:618176] | 75,235,641(+) | C/Tp.Arg645Trp | MISSENSE_VARIANT | |
VAR_081364 | Nephrotic syndrome 17 (NPHS17) [MIM:618176] | p.Ala477Val |
Disorder | Aliases | PubMed IDs |
---|---|---|
nephrotic syndrome, type 17 |
|
|
genetic steroid-resistant nephrotic syndrome |
|
|
nephrotic syndrome |
|
|
nemaline myopathy 1 |
|
|
seckel syndrome 8 |
|
|