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NUP160 is 1 of up to 60 proteins that make up the 120-MD nuclear pore complex, which mediates nucleoplasmic transport.[supplied by OMIM, Apr 2004]
NUP160 (Nucleoporin 160) is a Protein Coding gene. Diseases associated with NUP160 include Nephrotic Syndrome, Type 19 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 | IDA | 11684705 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000776 | colocalizes_with kinetochore | IDA | 15146057 |
GO:0005634 | nucleus | IEA | -- |
GO:0005635 | nuclear envelope | TAS | -- |
GO:0005643 | nuclear pore | IBA,IDA | 11564755 |
GO:0005829 | cytosol | 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 | TAS | -- |
GO:0006409 | tRNA export from nucleus | TAS | -- |
GO:0015031 | protein transport | IEA | -- |
GO:0016032 | viral process | TAS | -- |
ExUns: | 1a | · | 1b | ^ | 2 | ^ | 3 | ^ | 4a | · | 4b | · | 4c | ^ | 5 | ^ | 6 | ^ | 7 | ^ | 8 | ^ | 9 | ^ | 10 | ^ | 11 | ^ | 12 | ^ | 13 | ^ | 14 | ^ | 15 | ^ | 16a | · | 16b | ^ | 17 | ^ | 18 | ^ | 19 | ^ | 20 | ^ | 21a | · | 21b | ^ |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | - | - | - | |||||||||||||||||||||||||||||||||||||||||||||||||
SP2: | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||||||||||
SP3: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
SP4: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
SP5: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
SP6: | - | |||||||||||||||||||||||||||||||||||||||||||||||||||
SP7: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
SP8: |
ExUns: | 22 | ^ | 23 | ^ | 24 | ^ | 25 | ^ | 26 | ^ | 27 | ^ | 28a | · | 28b | ^ | 29a | · | 29b | · | 29c | ^ | 30 | ^ | 31 | ^ | 32 | ^ | 33 | ^ | 34 | ^ | 35a | · | 35b | ^ | 36 | ^ | 37 | ^ | 38a | · | 38b |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | - | - | - | - | |||||||||||||||||||||||||||||||||||||||
SP2: | - | - | - | - | |||||||||||||||||||||||||||||||||||||||
SP3: | - | ||||||||||||||||||||||||||||||||||||||||||
SP4: | |||||||||||||||||||||||||||||||||||||||||||
SP5: | |||||||||||||||||||||||||||||||||||||||||||
SP6: | |||||||||||||||||||||||||||||||||||||||||||
SP7: | |||||||||||||||||||||||||||||||||||||||||||
SP8: |
This gene was present in the common ancestor of animals.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | NUP160 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | NUP160 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | NUP160 30 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Nup160 30 |
|
||
Mouse (Mus musculus) |
Mammalia | Nup160 30 17 31 |
|
OneToOne | |
Oppossum (Monodelphis domestica) |
Mammalia | NUP160 31 |
|
OneToOne | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | NUP160 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | NUP160 30 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | NUP160 31 |
|
OneToOne | |
Zebrafish (Danio rerio) |
Actinopterygii | CABZ01080568.2 31 |
|
OneToOne | |
nup160 30 |
|
||||
zgc66306 30 |
|
||||
Fruit Fly (Drosophila melanogaster) |
Insecta | Nup160 30 31 |
|
OneToOne | |
CG4738 32 |
|
|
|||
Sea Squirt (Ciona savignyi) |
Ascidiacea | CSA.8115 31 |
|
OneToMany | |
-- 31 |
|
OneToMany |
SNP ID | Clinical significance and condition | Chr 11 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
724593 | Benign: not provided | 47,812,399(-) | T/C | NON_CODING_TRANSCRIPT_VARIANT,SYNONYMOUS_VARIANT | |
730008 | Benign: not provided | 47,780,406(-) | G/A | NON_CODING_TRANSCRIPT_VARIANT,SYNONYMOUS_VARIANT | |
790091 | Benign: not provided | 47,779,171(-) | T/C | NON_CODING_TRANSCRIPT_VARIANT,SYNONYMOUS_VARIANT | |
rs766361033 | Uncertain Significance: NEPHROTIC SYNDROME, TYPE 19 | 47,803,485(-) | G/A | NONSENSE,NON_CODING_TRANSCRIPT_VARIANT | |
rs775637217 | Uncertain Significance: NEPHROTIC SYNDROME, TYPE 19. Nephrotic syndrome 19 (NPHS19) [MIM:618178] | 47,807,109(-) | C/Tp.Glu803Lys | MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
dgv1111n100 | CNV | gain | 25217958 |
esv2669124 | CNV | deletion | 23128226 |
esv3626209 | CNV | loss | 21293372 |
esv3626210 | CNV | gain | 21293372 |
esv3626211 | CNV | gain | 21293372 |
nsv469858 | CNV | gain | 16826518 |
nsv825874 | CNV | loss | 20364138 |
nsv832143 | CNV | loss | 17160897 |
nsv983009 | CNV | duplication | 23825009 |
Disorder | Aliases | PubMed IDs |
---|---|---|
nephrotic syndrome, type 19 |
|
|
genetic steroid-resistant nephrotic syndrome |
|
|
nephrotic syndrome |
|
|
ovarian angiosarcoma |
|
|
lethal congenital contracture syndrome 1 |
|
|