Version 5.4
| Homo sapiens Gene: USB1 | |||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Summary | |||||||||||||||||||
| InnateDB Gene | IDBG-34027.7 | ||||||||||||||||||
| Last Modified | 2014-10-13 [Report errors or provide feedback] | ||||||||||||||||||
| Gene Symbol | USB1 | ||||||||||||||||||
| Gene Name | U6 snRNA biogenesis 1 | ||||||||||||||||||
| Synonyms | |||||||||||||||||||
| Species | Homo sapiens | ||||||||||||||||||
| Ensembl Gene | ENSG00000103005 | ||||||||||||||||||
| Encoded Proteins |
chromosome 16 open reading frame 57
chromosome 16 open reading frame 57
chromosome 16 open reading frame 57
|
||||||||||||||||||
| Protein Structure |
|
||||||||||||||||||
| Useful resources | Stemformatics EHFPI ImmGen | ||||||||||||||||||
| Entrez Gene | |||||||||||||||||||
| Summary |
This gene encodes a protein with several conserved domains, however, its exact function is not known. Mutations in this gene are associated with poikiloderma with neutropenia (PN), which shows phenotypic overlap with Rothmund-Thomson syndrome (RTS) caused by mutations in the RECQL4 gene. It is believed that this gene product interacts with RECQL4 protein via SMAD4 proteins, explaining the partial clinical overlap between PN and RTS. Alternatively spliced transcript variants encoding different isoforms have been noted for this gene. [provided by RefSeq, Mar 2011] |
||||||||||||||||||
| Gene Information | |||||||||||||||||||
| Type | Protein coding | ||||||||||||||||||
| Genomic Location | Chromosome 16:57999546-58021618 | ||||||||||||||||||
| Strand | Forward strand | ||||||||||||||||||
| Band | q21 | ||||||||||||||||||
| Transcripts | |||||||||||||||||||
| Interactions | |||||||||||||||||||
| Number of Interactions |
This gene and/or its encoded proteins are associated with 5 experimentally validated interaction(s) in this database.
|
||||||||||||||||||
| Gene Ontology | |||||||||||||||||||
Molecular Function |
|
||||||||||||||||||
| Biological Process |
|
||||||||||||||||||
| Cellular Component |
|
||||||||||||||||||
| Orthologs | |||||||||||||||||||
|
Species
Mus musculus
Bos taurus
|
Gene ID
Gene Order
Not yet available
|
||||||||||||||||||
| Cross-References | |||||||||||||||||||
| SwissProt | Q9BQ65 | ||||||||||||||||||
| TrEMBL | |||||||||||||||||||
| UniProt Splice Variant | |||||||||||||||||||
| Entrez Gene | 79650 | ||||||||||||||||||
| UniGene | Hs.721189 | ||||||||||||||||||
| RefSeq | NM_001195302 NM_001204911 NM_024598 XM_005256144 | ||||||||||||||||||
| HUGO | HGNC:25792 | ||||||||||||||||||
| OMIM | 613276 | ||||||||||||||||||
| CCDS | CCDS55998 CCDS10791 CCDS55997 | ||||||||||||||||||
| HPRD | 07815 | ||||||||||||||||||
| IMGT | |||||||||||||||||||
| EMBL | AC010543 AC012182 AK023216 AK301494 AK303121 BC004415 BC006291 BC007774 BC010099 BC021554 | ||||||||||||||||||
| GenPept | AAH04415 AAH06291 AAH07774 AAH10099 AAH21554 BAB14469 BAG63005 BAG64227 | ||||||||||||||||||
| RNA Seq Atlas | 79650 | ||||||||||||||||||