H/ACA ribonucleoprotein complex subunit 4 (Dkc1) Recombinant Protein | Dkc1 recombinant protein

Recombinant Mouse H/ACA ribonucleoprotein complex subunit 4 (Dkc1)

Cat. Num. AAA1454122

• Gene Names: Dkc1; BC068171
• Purity: Greater or equal to 85% purity as determined by SDS-PAGE.
• Synonyms: H/ACA ribonucleoprotein complex subunit 4 (Dkc1); Recombinant Mouse H/ACA ribonucleoprotein complex subunit 4 (Dkc1); Dkc1 recombinant protein

• Host: E Coli or Yeast or Baculovirus or Mammalian Cell
• Purity/Purification: Greater or equal to 85% purity as determined by SDS-PAGE.
• Form/Format: Lyophilized or liquid (Format to be determined during the manufacturing process)
• Sequence Positions: 2-509, Full length protein
• Sequence: ADAEVITFPKKHKKKKDRKPLQEDDVAEIQHAEEFLIKPESKVAQLDTSQWPLLLKNFDKLNVRTAHYTPLPCGSNPLKREIGDYIRTGFINLDKPSNPSSHEVVAWIRRILRVEKTGHSGTLDPKVTGCLIVCIERATRLVKSQQSAGKEYVGIVRLHNAIEGGTQLSRALETLTGALFQRPPLIAAVKRQLRVRTIYESKMIEYDPERRLGIFWVSCEAGTYIRTLCVHLGLLLGVGGQMQELRRVRSGVMSEKDHMVTMHDVLDAQWLYDNHKDESYLRRVVYPLEKLLTSHKRLVMKDSAVNAICYGAKIMLPGLLRYEDGIEVNQEIVVITTKGEAICMAIALMTTAVISTCDHGIVAKIKRVIMERDTYPRKWGLGPKASQKKMMIKQGLLDKHGKPTDNTPATWKQDYIDYSDSGKNTLVTEAVQAPQLAAEAVNVIKRKRDSESESDETPTVPQLKEKKKKKDKKPKTVLESGGETGDGDNDTTKKKKKKKVKVVEEMSE
• Sequence Length: 508

• Species: Mouse
• Preparation and Storage: Store at -20 degrees C. For long-term storage, store at -20 degrees C or -80 degrees C. Store working aliquots at 4 degrees C for up to one week. Repeated freezing and thawing is not recommended.

Related Product Information for Dkc1 recombinant protein

This gene is a member of the H
ACA snoRNPs (small nucleolar ribonucleoproteins) gene family. snoRNPs are involved in various aspects of rRNA processing and modification and have been classified into two families: C
D and H
ACA. The H
ACA snoRNPs also include the NOLA1, 2 and 3 proteins. This protein and the three NOLA proteins localize to the dense fibrillar components of nucleoli and to coiled (Cajal) bodies in the nucleus. Both 18S rRNA production and rRNA pseudouridylation are impaired if any one of the four proteins is depleted. These four H
ACA snoRNP proteins are also components of the telomerase complex. This protein is related to the Saccharomyces cerevisiae Cbf5p and Drosophila melanogaster Nop60B proteins. The gene lies in a tail-to-tail orientation with the palmitoylated erythrocyte membrane protein gene and is transcribed in a telomere to centromere direction. Both nucleotide substitutions and single trinucleotide repeat polymorphisms have been found in this gene. Mutations in this gene cause X-linked dyskeratosis congenita, a disease resulting in reticulate skin pigmentation, mucosal leukoplakia, nail dystrophy, and progressive bone marrow failure in most cases. Mutations in this gene also cause Hoyeraal-Hreidarsson syndrome, which is a more severe form of dyskeratosis congenita. Two transcript variants encoding different isoforms have been found for this gene.

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 isoform 3
• 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
• UniProt Protein Name: H/ACA ribonucleoprotein complex subunit 4
• UniProt Gene Name: Dkc1

Uniprot Description

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.