Hoyeraal-Hreidarsson syndrome/Dyskeratosis congenita

Gene Information

Names

HUGO name: DKC1

Alias(es):

  • DKC
  • Dyskerin
  • NAP57
  • NOLA4
  • XAP101
  • Dyskerin
  • Dyskeratosis congenita 1, dyskerin
  • Nucleolar protein NAP57

Localization

Reference sequences

Chromosomal location

Maps

Markers

Protein Information

Description

Protein function:

Seems to be involved in the function of telomerase. Associates with h/aca small nucleolar rnas and telomerase RNA.

Subcellular location:

Nuclear; nucleolar.

Similarity:

Belongs to the pseudouridine synthase trub family.

Structures (PDB)

Domains

PUA domain: 296-371

    Poly-Lys domain: 11-17

      Poly-Lys domain: 498-507

        Expression

        Expression pattern for human

        Tissue Expression (%) Clones
        Burkitt lymphoma 7.59 20:12544
        ovary 4.28 2:2227
        hypernephroma, cell line 3.56 6:8027
        leiomyosarcoma cell line 3.36 7:9910
        small cell carcinoma 3.14 13:19706
        lymphoma, cell line 3.00 19:30144
        fibrosarcoma 2.57 2:3710
        neuroblastoma, cell line 2.27 5:10476
        retina foveal and macular 2.21 2:4306
        cervical carcinoma cell line 2.11 8:18064