Human chromosome 16 open reading frame 57 ELISA Kit | C16orf57 elisa kit

Human UPF0406 protein C16orf57, C16orf57 ELISA Kit

Cat. Num. AAA9326464

• Gene Names: USB1; PN; Mpn1; HVSL1; hUsb1; C16orf57
• Reactivity: Human
• Synonyms: chromosome 16 open reading frame 57; Human UPF0406 protein C16orf57; C16orf57 ELISA Kit; Human UPF0406 protein C16orf57 (C16orf57) ELISA kit; FLJ13154; HVSL1; HVSL motif containing 1; hypothetical protein LOC79650; C16orf57 elisa kit

• Reactivity: Human

• Preparation and Storage: Store all reagents at 2-8 degree C

NCBI and Uniprot Product Information

• NCBI GI #: 306035177
• NCBI GeneID: 79650
• NCBI Accession #: NP_001182231.1
• NCBI GenBank Nucleotide #: NM_001195302.1
• UniProt Accession #: Q9BQ65; Q96FZ9; Q9H8X8; B4DWE3; B4DZW5
• Molecular Weight: 30,268 Da
• NCBI Official Full Name: U6 snRNA phosphodiesterase isoform 2
• NCBI Official Synonym Full Names: U6 snRNA biogenesis 1
• NCBI Official Symbol: USB1
• NCBI Official Synonym Symbols: PN; Mpn1; HVSL1; hUsb1; C16orf57
• NCBI Protein Information: 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
• UniProt Protein Name: U6 snRNA phosphodiesterase
• UniProt Gene Name: USB1
• UniProt Synonym Gene Names: C16orf57; hUsb1
• UniProt Entry Name: USB1_HUMAN

NCBI Description

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]

Uniprot Description

USB1: Putative phosphodiesterase responsible for the U6 snRNA 3' end processing. Acts as a ribonuclease (RNase) responsible for trimming the poly(U) tract of the last nucleotides in the pre-U6 snRNA molecule, leading to the formation of mature U6 snRNA 3'end- terminated with a 2',3'-cyclic phosphate. Defects in USB1 are the cause of poikiloderma with neutropenia (PN). PN is a genodermatosis characterized by poikiloderma, pachyonychia and chronic neutropenia. The disorder starts as a papular erythematous rash on the limbs during the first year of life. It gradually spreads centripetally and, as the papular rash resolves, hypo- and hyperpigmentation result, with development of telangiectasias. Another skin manifestation is pachyonychia, but alopecia and leukoplakia are distinctively absent. One of the most important extracutaneous symptoms is an increased susceptibility to infections, mainly affecting the respiratory system, primarily due to a chronic neutropenia and to neutrophil functional defects. Bone marrow abnormalities account for neutropenia and may evolve into myelodysplasia associated with the risk of leukemic transformation. Poikiloderma with neutropenia shows phenotypic overlap with Rothmund-Thomson syndrome. Belongs to the USB1 family. 3 isoforms of the human protein are produced by alternative splicing.

Protein type: Unknown function

Chromosomal Location of Human Ortholog: 16q21

Cellular Component: nucleus

Molecular Function: 3'-5'-exoribonuclease activity

Biological Process: RNA splicing; mRNA processing

Disease: Poikiloderma With Neutropenia