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USB1 U6 snRNA biogenesis 1 [Homo sapiens (human)]


Clone ID RefSeq Accession Definition Vector Stock Status *Turnaround time Price Order
OHu07663 NM_001195302 Homo sapiens U6 snRNA biogenesis 1 (USB1), transcript variant 2, mRNA. pcDNA3.1+-DYK On-demand 7-9 $159.00
OHu08584 NM_001204911 Homo sapiens U6 snRNA biogenesis 1 (USB1), transcript variant 3, mRNA. pcDNA3.1+-DYK On-demand 7-9 $159.00
OHu20716 NM_024598 Homo sapiens U6 snRNA biogenesis 1 (USB1), transcript variant 1, mRNA. pcDNA3.1+-DYK In-stock 5-7 $99.00
OHu49499 XM_005256144 PREDICTED: Homo sapiens U6 snRNA biogenesis 1 (USB1), transcript variant X1, mRNA. pcDNA3.1+-DYK On-demand 7-9 $159.00
OHu07663C NM_001195302 Homo sapiens U6 snRNA biogenesis 1 (USB1), transcript variant 2, mRNA. Customized vector On-demand 7-9 $209.00
OHu08584C NM_001204911 Homo sapiens U6 snRNA biogenesis 1 (USB1), transcript variant 3, mRNA. Customized vector On-demand 7-9 $209.00
OHu20716C NM_024598 Homo sapiens U6 snRNA biogenesis 1 (USB1), transcript variant 1, mRNA. Customized vector In-stock 5-7 $149.00
OHu49499C XM_005256144 PREDICTED: Homo sapiens U6 snRNA biogenesis 1 (USB1), transcript variant X1, mRNA. Customized vector On-demand 7-9 $209.00

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Gene Symbol USB1
Entrez Gene ID 79650
Full Name U6 snRNA biogenesis 1
Synonyms C16orf57, HVSL1, Mpn1, PN, hUsb1
General protein information
Preferred Names
U6 snRNA phosphodiesterase
Names
U6 snRNA phosphodiesterase
U six biogenesis 1
HVSL motif containing 1
UPF0406 protein C16orf57
putative U6 snRNA phosphodiesterase
mutated in poikiloderma with neutropenia protein 1
NP_001182231.1
NP_001191840.1
NP_078874.2
Gene Type protein-coding
Organism Homo sapiens (human)
Genome

16

16q21

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].
Disorder

MIM: 613276

Poikiloderma with neutropenia, 604173 (3)

mRNA Protein Product Sequence Price Select
NM_001195302, 306035176 NP_001182231, 306035177 U6 snRNA phosphodiesterase isoform 2 ORF Sequence $250.00
NM_001204911, 325995160 NP_001191840, 325995161 U6 snRNA phosphodiesterase isoform 3 ORF Sequence $250.00
NM_024598, 305855061 NP_078874, 42716283 U6 snRNA phosphodiesterase isoform 1 ORF Sequence $199.00
XM_005256144, 578829195 XP_005256201, 530424309 U6 snRNA phosphodiesterase isoform X1 ORF Sequence $250.00
Homo sapiens (human)USB1NP_078874.2
Pan troglodytes (chimpanzee)USB1XP_511000.1
Canis lupus familiaris (dog)USB1XP_853879.2
Bos taurus (cattle)USB1NP_001068945.1
Mus musculus (house mouse)Usb1NP_598715.2
Rattus norvegicus (Norway rat)Usb1NP_001014035.1
Gallus gallus (chicken)C11H16ORF57XP_413994.4
Danio rerio (zebrafish)usb1NP_001003460.1
Drosophila melanogaster (fruit fly)CG16790NP_649911.1
Arabidopsis thaliana (thale cress)AT5G51170NP_568753.1
Xenopus (Silurana) tropicalis (western clawed frog)usb1NP_001120615.1
Process
IDNameEvidence
GO:0006397mRNA processingIEA
GO:0008380RNA splicingIMP
GO:0034477U6 snRNA 3'-end processingIMP
GO:0090503RNA phosphodiester bond hydrolysis, exonucleolyticIDA
Component
IDNameEvidence
GO:0005634nucleusIDA
Function
IDNameEvidence
GO:00001753'-5'-exoribonuclease activityIDA
GeneCards USB1
UniProt H3BNM8, Q9BQ65
Vega OTTHUMG00000133456
MIM 613276
Ensembl ENSG00000103005
HGNC 25792
HPRD 07815

GeneRIFs: Gene References Into Functions What's a GeneRIF?

Interactant

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