Homo sapiens Gene: USB1

Summary
InnateDB Gene IDBG-34027.6
Last Modified 2013-04-25   [Report errors or provide feedback]
Gene Symbol USB1
Gene Name U6 snRNA biogenesis 1
Synonyms C16orf57; hUsb1; HVSL1; Mpn1; PN
Species Homo sapiens
Ensembl Gene ENSG00000103005
Encoded Proteins
IDBP-34029 chromosome 16 open reading frame 57
IDBP-378044 chromosome 16 open reading frame 57
IDBP-595945 chromosome 16 open reading frame 57
IDBP-750167
IDBP-747057
IDBP-753964
IDBP-747243
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: 58033450-58055522
Strand Forward strand
Band q21
Transcripts
ENST00000219281  ENSP00000219281
ENST00000423271  ENSP00000409792
ENST00000539737  ENSP00000446143
ENST00000566082 
ENST00000566292 
ENST00000565662 
ENST00000563321 
ENST00000568848 
ENST00000563207 
ENST00000562534 
ENST00000563149  ENSP00000454692
ENST00000561568  ENSP00000457322
ENST00000561743  ENSP00000454928
ENST00000569252 
ENST00000564387  ENSP00000457302
ENST00000565151 
Interactions
Number of Interactions   This gene and/or its encoded proteins are associated with 7 experimentally validated interaction(s) in this database.
Experimentally validated
Total 7 [view]
Protein‑Protein  5
[view]
Protein‑DNA 0
Protein‑RNA 2
[view]
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
 
Gene Ontology
Accession GO Term
Molecular Function
GO:0003674 molecular_function
GO:0004518 nuclease activity
Biological Process
GO:0006397 mRNA processing
GO:0008150 biological_process
GO:0008380 RNA splicing
GO:0034477 U6 snRNA 3'-end processing
Cellular Component
GO:0005575 cellular_component
GO:0005634 nucleus
Orthologs
Species
Mus musculus
Bos taurus
Gene ID Gene Order Method Confidence Comments
ENSMUSG00000031792 Ortholuge SSD Ortholog Ortholog supports species divergence
ENSBTAG00000015758 Not yet available Ortholuge SSD Ortholog Ortholog supports species divergence
Pathways
NETPATH
REACTOME
KEGG
INOH
PID BIOCARTA
PID NCI
Cross-References
SwissProt Q9BQ65 
TrEMBL B4DDJ8 H3BN52 H3BNM8 H3BTS1 H3BTT8
UniProt Splice Variant
Entrez Gene 79650 
UniGene Hs.721189
RefSeq NM_001195302  NM_001204911  NM_024598 
HUGO 25792 
OMIM 613276
CCDS CCDS10791  CCDS55997  CCDS55998 
HPRD 07815
IMGT
EMBL AC010543 AC012182 AK023216 AK293220 AK301494 AK303121 BC004415 BC006291 BC007774 BC010099 BC021554
GenPept AAH04415  AAH06291  AAH07774  AAH10099  AAH21554  BAB14469  BAG56759  BAG63005  BAG64227 
ImmGen USB1 (murine) 
RNA Seq Atlas 79650