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This gene encodes a member of the TNF receptor associated factor (TRAF) family. TRAF proteins are associated with, and mediate signal transduction from members of the TNF receptor superfamily. The encoded protein has been shown to interact with neurotrophin receptor, p75 (NTR/NTSR1), and negatively regulate NTR induced cell death and NF-kappa B activation. This protein has been found to bind to p47phox, a cytosolic regulatory factor included in a multi-protein complex known as NAD(P)H oxidase. This protein thus, is thought to be involved in the oxidative activation of MAPK8/JNK. Alternatively spliced transcript variants have been observed but the full-length nature of only one has been determined. [provided by RefSeq, Jul 2008]
TRAF4 (TNF Receptor Associated Factor 4) is a Protein Coding gene. Diseases associated with TRAF4 include Nephronophthisis. Among its related pathways are TRAF Pathway and LT-BetaR Pathway. Gene Ontology (GO) annotations related to this gene include protein kinase binding and ubiquitin protein ligase binding. An important paralog of this gene is TRAF2.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0003677 | DNA binding | TAS | 7592751 |
GO:0005164 | tumor necrosis factor receptor binding | IEA,IPI | 11728344 |
GO:0005515 | protein binding | IPI,IEA | 10514511 |
GO:0008270 | zinc ion binding | IEA | -- |
GO:0019901 | protein kinase binding | IEA | -- |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005634 | nucleus | IDA,TAS | 18087216 |
GO:0005737 | cytoplasm | IDA,IEA | 16157600 |
GO:0005856 | cytoskeleton | IEA | -- |
GO:0005886 | plasma membrane | IEA | -- |
GO:0005923 | bicellular tight junction | IEA | -- |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | TRAF Pathway |
TNF Superfamily Pathway
.42
|
TRAF Pathway
.42
|
2 | Apoptosis and Autophagy | ||
3 | NF-kappaB Signaling | ||
4 | IL-17 Family Signaling Pathways | ||
5 | Pathways in cancer |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0006915 | apoptotic process | IEA | -- |
GO:0007165 | signal transduction | IEA,TAS | 7592751 |
GO:0007250 | activation of NF-kappaB-inducing kinase activity | IEA | -- |
GO:0007275 | multicellular organism development | IEA | -- |
GO:0007585 | respiratory gaseous exchange | IEA | -- |
ExUns: | 1a | · | 1b | ^ | 2 | ^ | 3 | ^ | 4a | · | 4b | ^ | 5a | · | 5b | ^ | 6 | ^ | 7a | · | 7b | ^ | 8a | · | 8b | ^ | 9a | · | 9b | · | 9c | ^ | 10a | · | 10b | ^ | 11a | · | 11b | · | 11c | ^ | 12a | · | 12b |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | - | - | - | - | - | - | - | - | - | ||||||||||||||||||||||||||||||||||||
SP2: | - | - | - | - | - | - | - | - | - | - | - | ||||||||||||||||||||||||||||||||||
SP3: | - | - | - | - | - | - | - | - | - | ||||||||||||||||||||||||||||||||||||
SP4: | - | - | - | - | - | - | - | ||||||||||||||||||||||||||||||||||||||
SP5: | - | - | - | - | - | - | - | - | |||||||||||||||||||||||||||||||||||||
SP6: | - | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||
SP7: | - | - | - | - | - | - | - | - | - | ||||||||||||||||||||||||||||||||||||
SP8: | - | - | - | - | |||||||||||||||||||||||||||||||||||||||||
SP9: | |||||||||||||||||||||||||||||||||||||||||||||
SP10: | - | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||
SP11: | |||||||||||||||||||||||||||||||||||||||||||||
SP12: | - | - | - | - | |||||||||||||||||||||||||||||||||||||||||
SP13: | - | - | - | - | |||||||||||||||||||||||||||||||||||||||||
SP14: | - |
This gene was present in the common ancestor of animals.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
chimpanzee (Pan troglodytes) |
Mammalia | TRAF4 33 32 |
|
OneToOne | |
cow (Bos Taurus) |
Mammalia | TRAF4 33 32 |
|
OneToOne | |
mouse (Mus musculus) |
Mammalia | Traf4 17 33 32 |
|
||
dog (Canis familiaris) |
Mammalia | TRAF4 33 32 |
|
OneToOne | |
rat (Rattus norvegicus) |
Mammalia | Traf4 32 |
|
||
oppossum (Monodelphis domestica) |
Mammalia | TRAF4 33 |
|
OneToOne | |
platypus (Ornithorhynchus anatinus) |
Mammalia | -- 33 |
|
OneToMany | |
-- 33 |
|
OneToMany | |||
chicken (Gallus gallus) |
Aves | TRAF4 33 32 |
|
OneToOne | |
lizard (Anolis carolinensis) |
Reptilia | -- 33 |
|
ManyToMany | |
tropical clawed frog (Silurana tropicalis) |
Amphibia | traf4 32 |
|
||
Str.392 32 |
|
||||
African clawed frog (Xenopus laevis) |
Amphibia | Xl.2466 32 |
|
||
zebrafish (Danio rerio) |
Actinopterygii | traf4a 33 32 |
|
OneToOne | |
Dr.15893 32 |
|
||||
fruit fly (Drosophila melanogaster) |
Insecta | Traf4 33 32 |
|
OneToOne | |
Traf1 34 |
|
|
|||
African malaria mosquito (Anopheles gambiae) |
Insecta | AgaP_AGAP010017 32 |
|
||
worm (Caenorhabditis elegans) |
Secernentea | trf-1 33 34 |
|
ManyToMany | |
sea squirt (Ciona savignyi) |
Ascidiacea | -- 33 |
|
OneToOne | |
Cin.2595 32 |
|
||||
sea squirt (Ciona intestinalis) |
Ascidiacea | Cin.2595 32 |
|
SNP ID | Clin | Chr 17 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
rs1142899 | benign, Nephronophthisis | 28,742,375(+) | C/T | upstream_transcript_variant | |
rs183805648 | uncertain-significance, Nephronophthisis | 28,742,407(+) | C/T | upstream_transcript_variant | |
rs185303602 | uncertain-significance, Nephronophthisis | 28,742,565(+) | A/C | upstream_transcript_variant | |
rs186791558 | uncertain-significance, Nephronophthisis | 28,742,143(+) | G/A | upstream_transcript_variant | |
rs191309632 | uncertain-significance, Nephronophthisis | 28,742,315(+) | C/A/T | upstream_transcript_variant |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
esv24071 | CNV | loss | 19812545 |
nsv1064087 | CNV | gain | 25217958 |
Disorder | Aliases | PubMed IDs |
---|---|---|
nephronophthisis |
|
|