Mouse dyskeratosis congenita 1, dyskerin ELISA Kit | DKC1 elisa kit

Mouse H/ACA ribonucleoprotein complex subunit 4, DKC1 ELISA Kit

Cat. Num. AAA9319181

• Gene Names: Dkc1; BC068171
• Reactivity: Mouse
• Synonyms: dyskeratosis congenita 1; dyskerin; Mouse H/ACA ribonucleoprotein complex subunit 4; DKC1 ELISA Kit; Mouse H/ACA ribonucleoprotein complex subunit 4 (DKC1) ELISA kit; CBF5; DKC; FLJ97620; NAP57; NOLA4; XAP101; H/ACA ribonucleoprotein complex subunit 4; cbf5p homolog; nopp140-associated protein of 57 kDa; nucleolar protein family A member 4; snoRNP protein DK; DKC1 elisa kit

• Reactivity: Mouse

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

NCBI and Uniprot Product Information

• NCBI GI #: 91064867
• NCBI GeneID: 245474
• NCBI Accession #: NP_001025478.1
• NCBI GenBank Nucleotide #: NM_001030307.2
• UniProt Accession #: Q9ESX5; Q3UWE5
• Molecular Weight: 57,402 Da
• NCBI Official Full Name: H/ACA ribonucleoprotein complex subunit 4
• NCBI Official Synonym Full Names: dyskeratosis congenita 1, dyskerin
• NCBI Official Symbol: Dkc1
• NCBI Official Synonym Symbols: BC068171
• NCBI Protein Information: H/ACA ribonucleoprotein complex subunit 4; dyskerin; snoRNP protein DKC1; nucleolar protein NAP57; nucleolar protein family A member 4; nopp140-associated protein of 57 kDa; dyskeratosis congenita 1, dyskerin homolog
• UniProt Protein Name: H/ACA ribonucleoprotein complex subunit 4
• UniProt Gene Name: Dkc1
• UniProt Entry Name: DKC1_MOUSE

Uniprot Description

dyskerin: Isoform 1: Required for ribosome biogenesis and telomere maintenance. Probable catalytic subunit of H/ACA small nucleolar ribonucleoprotein (H/ACA snoRNP) complex, which catalyzes pseudouridylation of rRNA. This involves the isomerization of uridine such that the ribose is subsequently attached to C5, instead of the normal N1. Each rRNA can contain up to 100 pseudouridine ('psi') residues, which may serve to stabilize the conformation of rRNAs. Also required for correct processing or intranuclear trafficking of TERC, the RNA component of the telomerase reverse transcriptase (TERT) holoenzyme. Defects in DKC1 are a cause of dyskeratosis congenita X- linked recessive (XDKC). XDKC is a rare, progressive bone marrow failure syndrome characterized by the triad of reticulated skin hyperpigmentation, nail dystrophy, and mucosal leukoplakia. Early mortality is often associated with bone marrow failure, infections, fatal pulmonary complications, or malignancy. Defects in DKC1 are the cause of Hoyeraal-Hreidarsson syndrome (HHS). HHS is a multisystem disorder affecting males and is characterized by aplastic anemia, immunodeficiency, microcephaly, cerebellar hypoplasia, and growth retardation. Belongs to the pseudouridine synthase TruB family. 2 isoforms of the human protein are produced by alternative splicing.

Protein type: EC 5.4.99.-; Lyase; Isomerase; RNA-binding; RNA processing; Nucleolus

Cellular Component: nucleoplasm; Cajal body; small nucleolar ribonucleoprotein complex; telomerase holoenzyme complex; nucleolus; ribonucleoprotein complex; nucleus

Molecular Function: telomerase activity; beta-amyrin synthase activity; RNA binding; pseudouridine synthase activity; lupeol synthase activity; isomerase activity

Biological Process: pseudouridine synthesis; box H/ACA snoRNA metabolic process; rRNA pseudouridine synthesis; RNA-dependent DNA replication; ribosome biogenesis and assembly; snRNA pseudouridine synthesis; positive regulation of telomerase activity; positive regulation of telomere maintenance via telomerase; rRNA modification; RNA processing; cell proliferation; RNA modification; box H/ACA snoRNA 3'-end processing; rRNA processing