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This gene encodes a member of a family of proteins that bind nucleic acids and function in the formation of ribonucleoprotein complexes in the nucleus with heterogeneous nuclear RNA (hnRNA). The encoded protein has affinity for both RNA and DNA, and binds scaffold-attached region (SAR) DNA. Mutations in this gene have been associated with epileptic encephalopathy, early infantile, 54. A pseudogene of this gene has been identified on chromosome 14. [provided by RefSeq, Jun 2017]
HNRNPU (Heterogeneous Nuclear Ribonucleoprotein U) is a Protein Coding gene. Diseases associated with HNRNPU include Epileptic Encephalopathy, Early Infantile, 54 and Visual Epilepsy. Among its related pathways are Gene Expression and mRNA Splicing - Major Pathway. Gene Ontology (GO) annotations related to this gene include kinase activity. An important paralog of this gene is HNRNPUL1.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000166 | nucleotide binding | IEA | -- |
GO:0000978 | RNA polymerase II proximal promoter sequence-specific DNA binding | IEA,ISS | -- |
GO:0000993 | RNA polymerase II complex binding | IDA | 10490622 |
GO:0001097 | TFIIH-class transcription factor complex binding | IBA,IDA | 10490622 |
GO:0003677 | DNA binding | TAS,IDA | 9204873 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000228 | nuclear chromosome | IBA,IDA | 11003645 |
GO:0000775 | chromosome, centromeric region | IEA | -- |
GO:0000776 | kinetochore | IBA,IDA | 21242313 |
GO:0000777 | condensed chromosome kinetochore | IEA | -- |
GO:0000922 | spindle pole | IEA | -- |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | mRNA Splicing - Major Pathway |
.79
|
.47
.41
|
2 | Gene Expression |
.48
|
|
3 | Circadian rythm related genes |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000122 | negative regulation of transcription by RNA polymerase II | IBA,IMP | 9353307 |
GO:0000381 | regulation of alternative mRNA splicing, via spliceosome | IDA | 22325991 |
GO:0000398 | mRNA splicing, via spliceosome | TAS | -- |
GO:0001649 | osteoblast differentiation | HDA | 16210410 |
GO:0006325 | chromatin organization | IEA | -- |
ExUns: | 1a | · | 1b | · | 1c | · | 1d | ^ | 2a | · | 2b | ^ | 3 | ^ | 4a | · | 4b | ^ | 5 | ^ | 6a | · | 6b | ^ | 7a | · | 7b | · | 7c | ^ | 8 | ^ | 9a | · | 9b | ^ | 10a | · | 10b | ^ | 11 | ^ | 12 | ^ | 13 | ^ | 14a | · | 14b |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | - | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||||||
SP2: | - | - | - | - | |||||||||||||||||||||||||||||||||||||||||||||
SP3: | - | - | - | - | |||||||||||||||||||||||||||||||||||||||||||||
SP4: | - | ||||||||||||||||||||||||||||||||||||||||||||||||
SP5: | |||||||||||||||||||||||||||||||||||||||||||||||||
SP6: |
This gene was present in the common ancestor of animals.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | HNRNPU 31 |
|
OneToOne | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | HNRNPU 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | HNRNPU 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | HNRNPU 30 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Hnrnpu 30 |
|
||
Mouse (Mus musculus) |
Mammalia | Hnrnpu 30 17 31 |
|
OneToOne | |
Oppossum (Monodelphis domestica) |
Mammalia | HNRNPU 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | HNRNPU 30 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | HNRNPU 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | hnrnpu 30 |
|
||
Str.7999 30 |
|
||||
African clawed frog (Xenopus laevis) |
Amphibia | Xl.8951 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | hnrnpub 30 31 |
|
OneToMany | |
hnrnpua 31 |
|
OneToMany | |||
Fruit Fly (Drosophila melanogaster) |
Insecta | CG30122 31 |
|
OneToMany | |
Worm (Caenorhabditis elegans) |
Secernentea | Y41E3.11 31 |
|
OneToMany |
SNP ID | Clinical significance and condition | Chr 01 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
620055 | Pathogenic: Epileptic encephalopathy, early infantile, 54 | 244,858,784(-) | TCA/T | NONSENSE | |
640405 | Uncertain Significance: heterogeneous nuclear ribonucleoprotein G, human | 244,863,628(-) | G/A | MISSENSE_VARIANT,INTRON_VARIANT | |
640469 | Uncertain Significance: heterogeneous nuclear ribonucleoprotein G, human | 244,857,620(-) | T/C | MISSENSE_VARIANT | |
640515 | Benign: heterogeneous nuclear ribonucleoprotein G, human | 244,858,114(-) | T/C | MISSENSE_VARIANT | |
644677 | Uncertain Significance: heterogeneous nuclear ribonucleoprotein G, human | 244,863,867(-) | G/C | MISSENSE_VARIANT |
Disorder | Aliases | PubMed IDs |
---|---|---|
epileptic encephalopathy, early infantile, 54 |
|
|
visual epilepsy |
|
|
alacrima, achalasia, and mental retardation syndrome |
|
|
1q44 microdeletion syndrome |
|
|
transient neonatal thrombocytopenia |
|
|