| Gene Symbol | DKC1 |
|---|---|
| Entrez Gene | 1736 |
| Alt Symbol | CBF5, DKC, DKCX, NAP57, NOLA4, XAP101 |
| Species | Human |
| Gene Type | protein-coding |
| Description | dyskeratosis congenita 1, dyskerin |
| Other Description | CBF5 homolog|H/ACA ribonucleoprotein complex subunit 4|nopp140-associated protein of 57 kDa|nucleolar protein NAP57|nucleolar protein family A member 4|snoRNP protein DKC1 |
| Swissprots | Q9Y505 O60832 Q96G67 F5BSB3 O43845 |
| Accessions | AAD20232 CAA11970 CAB39106 CAB51168 EAW72661 EAW72662 EAW72663 O60832 AF067008 AAD11815 AK225077 AK307672 AM392631 CAL37509 AM392823 CAL37701 BC009928 AAH09928 BC010015 AAH10015 BI858251 BU730947 CD367400 DA429806 DB517187 DQ892737 ABM83663 DQ895984 ABM86910 HY050100 JF279874 ADX66370 KC954523 AGZ20497 KC954524 AGZ20498 KC954525 AGZ20499 U59151 AAB94299 NM_001142463 NP_001135935 NM_001288747 NP_001275676 NM_001363 NP_001354 NR_110021 NR_110022 NR_110023 |
| Function | 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. |
| Subcellular Location | Isoform 1: Nucleus, nucleolus. Nucleus, Cajal body. Note=Also localized to Cajal bodies (coiled bodies). |
| Tissue Specificity | Ubiquitously expressed. {ECO:0000269|PubMed:10903840}. |
| Top Pathways | Ribosome biogenesis in eukaryotes |