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C16orf57 chromosome 16 open reading frame 57 [Homo sapiens (human)]


RefSeq Accession Definition Service Stock Status Price *Turnaround time Order
NM_001195302 Homo sapiens U6 snRNA biogenesis 1 (USB1), transcript variant 2, mRNA. GenEZ ORF Cloning On-demand $399.00 14
NM_001204911 Homo sapiens U6 snRNA biogenesis 1 (USB1), transcript variant 3, mRNA. GenEZ ORF Cloning On-demand $399.00 14
NM_024598 Homo sapiens U6 snRNA biogenesis 1 (USB1), transcript variant 1, mRNA. GenEZ ORF Cloning In-stock $348.00 $299.00 10

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Related Services

Gene Symbol C16orf57
Entrez Gene ID 79650
Full Name chromosome 16 open reading frame 57
Synonyms FLJ13154, HVSL1, PN
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 putative U6 snRNA phosphodiesterase isoform 2 ORF Sequence $250.00
NM_001204911, 325995160 NP_001191840, 325995161 putative U6 snRNA phosphodiesterase isoform 3 ORF Sequence $250.00
NM_024598, 305855061 NP_078874, 42716283 putative U6 snRNA phosphodiesterase isoform 1 ORF Sequence $199.00
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)AA960436NP_598715.2
Rattus norvegicus (Norway rat)Usb1NP_001014035.1
Gallus gallus (chicken)USB1XP_413994.3
Danio rerio (zebrafish)zgc:91896NP_001003460.1
Drosophila melanogaster (fruit fly)CG16790NP_649911.1
Arabidopsis thaliana (thale cress)AT5G51170NP_568753.1
GeneCards C16orf57
PDB 4H7W
UniProt Q9BQ65
MIM 613276
Ensembl ENSG00000103005
HGNC 25792
HPRD 07815

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

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

Interactant



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