USB1

GENE INFORMATION

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Gene name

USB1 (HGNC Symbol)

Synonyms

C16orf57, FLJ13154, HVSL1, Mpn1

Description

U6 snRNA biogenesis 1 (HGNC Symbol)

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]

Chromosome

16

Cytoband

q21

Chromosome location (bp)

58033450 - 58055522

Protein evidence

Evidence at protein level (all genes)

Ensembl

ENSG00000103005 (version 75.37)

Entrez gene

79650

UniProt

Q9BQ65 (UniProt - Evidence at protein level)

neXtProt

NX_Q9BQ65

Antibodypedia

USB1 antibodies
 

PROTEIN VIEW

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USB1-001
 
USB1-002
 
USB1-003
 
USB1-004
 
USB1-012
 
USB1-014
 
USB1-015
 
 
 
 
 

PROTEIN INFORMATION

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Splice variant

Ensembl

UniProt

Protein class

Gene ontology

Length
(aa)

Molecular mass
(kDa)

Signal peptide
(predicted)

Transmembrane regions
(predicted)

USB1-001 ENSP00000219281
ENST00000219281
Q9BQ65
Show all »
Show » Show » 265 30.3 No 0
USB1-002 ENSP00000446143
ENST00000539737
Q9BQ65
Show all »
Show » Show » 247 28.1 No 0
USB1-003 ENSP00000454692
ENST00000563149
H3BN52
Show all »
Show » Show » 163 18.5 No 0
USB1-004 ENSP00000409792
ENST00000423271
Q9BQ65
Show all »
Show » Show » 186 20.8 No 0
USB1-012 ENSP00000454928
ENST00000561743
H3BNM8
Show all »
Show » Show » 214 24.8 No 0
USB1-014 ENSP00000457322
ENST00000561568
H3BTT8
Show all »
Show » Show » 182 20.7 No 0
USB1-015 ENSP00000457302
ENST00000564387
H3BTS1
Show all »
Show » Show » 95 10.5 No 0