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Symbol report for DKC1

Stable symbol

HGNC data for DKC1

Approved symbol
DKC1
Approved name

dyskerin pseudouridine synthase 1

Locus type
gene with protein product
HGNC ID
HGNC:2890
Symbol status
Approved
Previous symbols
DKC
Previous names
dyskeratosis congenita 1, dyskerin
Alias symbols
XAP101
dyskerin
NAP57
NOLA4
Cbf5
Alias names
H/ACA ribonucleoprotein complex subunit 4
Chromosomal location
Xq28
Gene groups
Gene resources for DKC1
Ensembl
ENSG00000130826 Curated
Ensembl region in detailEnsembl gene sequence
NCBI Gene
1736 Curated
UCSC
uc004fmm.5
Alliance of Genome Resources
HGNC:2890
Nucleotide resources for DKC1
MANE Select
NM_001363.5
ENST00000369550.10
INSDC
AJ224481 Curated
ENAGenBankDDBJ
RefSeq
NM_001363 Curated
NCBI sequence viewer
Protein resources for DKC1
UniProt/Swiss-Prot
O60832
InterProPDBeReactome
AlphaFold
AF-O60832-F1
Orthologs from selected species for DKC1
Bos taurus
DKC1 VGNC:28078 VGNC
Canis familiaris
DKC1 VGNC:103670 VGNC
Equus caballus
DKC1 VGNC:17201 VGNC
Felis catus
DKC1 VGNC:61505 VGNC
Macaca mulatta
DKC1 VGNC:71800 VGNC
Mus musculus
Dkc1 MGI:1861727 Curated
Pan troglodytes
DKC1 VGNC:10176 VGNC
Rattus norvegicus
Dkc1 RGD:621780
Sus scrofa
DKC1 VGNC:87320 VGNC
Clinical resources for DKC1
OMIM
300126
LRG
LRG_55 Curated
LSDB
DKC1base: Mutation registry for Hoyeraal-Hreidarsson syndrome Curated
Global Variome shared LOVD Curated
GenCC
HGNC:2890
MedlinePlus
Search via DKC1
DECIPHER
Search via DKC1
ClinGen
Search via HGNC:2890
Genetic Testing Registry
Search via NCBI Gene ID 1736
ClinVar
Search via NCBI Gene ID 1736
dbVar
Search via NCBI Gene ID 1736
Orphanet
121091
Other resources for DKC1
AmiGO
Search via O60832
QuickGO
Search via O60832
BioGPS
Search via NCBI Gene ID 1736
GeneCards
Search via HGNC:2890
Monarch
Search via HGNC:2890
WikiGenes
Search via NCBI Gene ID 1736
References for DKC1