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
chromosome 16 open reading frame 57
chromosome 16 open reading frame 57
chromosome 16 open reading frame 57
Protein Structure
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

Molecular Function
Accession GO Term
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
SSD Ortholog
Ortholog supports species divergence
Not yet available
SSD Ortholog
Ortholog supports species divergence
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