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This gene encodes a multifunctional protein component of the heterogeneous nuclear ribonucleoprotein (hnRNP) complex. The hnRNP complex is involved in pre-mRNA splicing and the export of fully processed mRNA to the cytoplasm. This protein belongs to the FET family of RNA-binding proteins which have been implicated in cellular processes that include regulation of gene expression, maintenance of genomic integrity and mRNA/microRNA processing. Alternative splicing results in multiple transcript variants. Defects in this gene result in amyotrophic lateral sclerosis type 6. [provided by RefSeq, Sep 2009]
FUS (FUS RNA Binding Protein) is a Protein Coding gene. Diseases associated with FUS include Tremor, Hereditary Essential, 4 and Amyotrophic Lateral Sclerosis 6 With Or Without Frontotemporal Dementia. Among its related pathways are Transcriptional misregulation in cancer and Chromatin Regulation / Acetylation. Gene Ontology (GO) annotations related to this gene include nucleic acid binding and identical protein binding. An important paralog of this gene is EWSR1.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0003676 | nucleic acid binding | IEA | -- |
GO:0003677 | DNA binding | IEA | -- |
GO:0003682 | chromatin binding | IDA | 25453086 |
GO:0003712 | transcription coregulator activity | IBA | 21873635 |
GO:0003713 | transcription coactivator activity | IDA | 21909421 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005634 | nucleus | TAS,IDA | 16365397 |
GO:0005654 | nucleoplasm | IDA,TAS | -- |
GO:0005737 | cytoplasm | IEA | -- |
GO:0005844 | polysome | IEA | -- |
GO:0030425 | dendrite | IEA | -- |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | mRNA Splicing - Major Pathway |
.79
|
.41
|
2 | Chromatin Regulation / Acetylation | ||
3 | Translational Control | ||
4 | Transcriptional misregulation in cancer | ||
5 | Gene Expression |
.48
|
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000398 | mRNA splicing, via spliceosome | TAS | -- |
GO:0006355 | regulation of transcription, DNA-templated | IEA,IDA | 26124092 |
GO:0006357 | regulation of transcription by RNA polymerase II | IDA | 25453086 |
GO:0008380 | RNA splicing | IDA | 26124092 |
GO:0010467 | gene expression | IEA | -- |
This gene was present in the common ancestor of animals.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | FUS 31 |
|
OneToOne | |
Mouse (Mus musculus) |
Mammalia | Fus 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | FUS 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | FUS 31 |
|
OneToOne | |
Oppossum (Monodelphis domestica) |
Mammalia | FUS 31 |
|
OneToOne | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | FUS 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | FUS 31 |
|
OneToOne | |
African clawed frog (Xenopus laevis) |
Amphibia | fus-prov 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | fus 31 |
|
OneToOne | |
zgc56390 30 |
|
||||
Fruit Fly (Drosophila melanogaster) |
Insecta | caz 31 |
|
ManyToMany | |
CG14718 31 |
|
ManyToMany |
SNP ID | Clinical significance and condition | Chr 16 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
647759 | Uncertain Significance: Amyotrophic lateral sclerosis type 6; Tremor, hereditary essential, 4 | 31,185,103(+) | G/T | MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT | |
649131 | Uncertain Significance: Amyotrophic lateral sclerosis type 6; Tremor, hereditary essential, 4 | 31,185,081(+) | T/TGGCGGC | NON_CODING_TRANSCRIPT_VARIANT,INFRAME_INSERTION | |
650787 | Uncertain Significance: Amyotrophic lateral sclerosis type 6; Tremor, hereditary essential, 4 | 31,191,412(+) | C/G | MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT | |
653781 | Uncertain Significance: Amyotrophic lateral sclerosis type 6; Tremor, hereditary essential, 4 | 31,190,309(+) | CAGT/C | NON_CODING_TRANSCRIPT_VARIANT,INFRAME_DELETION | |
654997 | Uncertain Significance: Amyotrophic lateral sclerosis type 6; Tremor, hereditary essential, 4 | 31,185,099(+) | C/CGGTGGTGGT | NON_CODING_TRANSCRIPT_VARIANT,INFRAME_INSERTION |
Disorder | Aliases | PubMed IDs |
---|---|---|
tremor, hereditary essential, 4 |
|
|
amyotrophic lateral sclerosis 6 with or without frontotemporal dementia |
|
|
juvenile amyotrophic lateral sclerosis |
|
|
amyotrophic lateral sclerosis type 6 |
|
|
myxoid liposarcoma |
|