Seroatlas · Human Serome Atlas

DKC1

H/ACA ribonucleoprotein complex subunit DKC1

Also known as: Cbf5, DKC, DKC1_HUMAN, dyskerin, NAP57, NOLA4, XAP101

Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene

Protein identityUniProt · HPA

UniProt accession
O60832
Gene
DKC1
Ensembl
ENSG00000130826
Chromosome
X
Canonical length
514 aa
Protein class
Disease related genes, Human disease related genes, Plasma proteins, Predicted intracellular proteins
Subcellular location
Nucleoplasm,Nucleoli fibrillar center

OverviewNCBI Gene

This gene functions in two distinct complexes. It plays an active role in telomerase stabilization and maintenance, as well as recognition of snoRNAs containing H/ACA sequences which provides stability during biogenesis and assembly into H/ACA small nucleolar RNA ribonucleoproteins (snoRNPs). This gene is highly conserved and widely expressed, and may play additional roles in nucleo-cytoplasmic shuttling, DNA damage response, and cell adhesion. Mutations have been associated with X-linked dyskeratosis congenita. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2014]

Canonical amino-acid sequenceUniProt

514 residues, UniProt reviewed canonical sequence.

>O60832|DKC1
     1  MADAEVIILP KKHKKKKERK SLPEEDVAEI QHAEEFLIKP ESKVAKLDTS QWPLLLKNFD
    61  KLNVRTTHYT PLACGSNPLK REIGDYIRTG FINLDKPSNP SSHEVVAWIR RILRVEKTGH
   121  SGTLDPKVTG CLIVCIERAT RLVKSQQSAG KEYVGIVRLH NAIEGGTQLS RALETLTGAL
   181  FQRPPLIAAV KRQLRVRTIY ESKMIEYDPE RRLGIFWVSC EAGTYIRTLC VHLGLLLGVG
   241  GQMQELRRVR SGVMSEKDHM VTMHDVLDAQ WLYDNHKDES YLRRVVYPLE KLLTSHKRLV
   301  MKDSAVNAIC YGAKIMLPGV LRYEDGIEVN QEIVVITTKG EAICMAIALM TTAVISTCDH
   361  GIVAKIKRVI MERDTYPRKW GLGPKASQKK LMIKQGLLDK HGKPTDSTPA TWKQEYVDYS
   421  ESAKKEVVAE VVKAPQVVAE AAKTAKRKRE SESESDETPP AAPQLIKKEK KKSKKDKKAK
   481  AGLESGAEPG DGDSDTTKKK KKKKKAKEVE LVSE

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against DKC1 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability
Intracellular
Secreted
No
Transmembrane segments
0
Mean surface accessibility (rSASA)
0.39
Highest tissue expression
39 nTPM

Expression across tissuesHPA

Tissue

  • tonsil: 39 nTPM
  • esophagus: 35 nTPM
  • thymus: 32 nTPM
  • urinary bladder: 32 nTPM
  • pancreas: 30 nTPM
  • skeletal muscle: 30 nTPM

Single-cell type

  • erythrocyte progenitors: 204 nCPM
  • esophageal basal cells: 148 nCPM
  • megakaryocyte progenitors: 146 nCPM
  • oocytes: 138 nCPM
  • basal keratinocytes: 129 nCPM
  • megakaryocyte-erythroid progenitors: 120 nCPM

Immune cell

  • MAIT T-cell: 45 nTPM
  • memory B-cell: 40 nTPM
  • memory CD8 T-cell: 40 nTPM
  • NK-cell: 40 nTPM
  • naive CD4 T-cell: 37 nTPM
  • gdT-cell: 36 nTPM

Brain region

  • hypothalamus: 4.5 nTPM
  • medulla oblongata: 4.3 nTPM
  • pons: 3.7 nTPM
  • cerebellum: 3.5 nTPM
  • cerebral cortex: 3.5 nTPM
  • spinal cord: 3.4 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about DKC1.

Disease | AllUniProt

Conditions DKC1 is implicated in, by any mechanism.

  • Dyskeratosis congenita, X-linked (DKCX) MIM:305000
  • Hoyeraal-Hreidarsson syndrome (HHS) MIM:305000
  • Cataracts, hearing impairment, nephrotic syndrome, and enterocolitis 1 (CHINE1) MIM:301108

Disease | GeneticClinVar

31 pathogenic / likely-pathogenic of 642 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

  • Dyskeratosis congenita, X-linked
  • Dyskeratosis congenita
  • DKC1-related disorder
  • Hoyeraal-Hreidarsson syndrome
  • Cataracts, hearing impairment, nephrotic syndrome, and enterocolitis 1

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance)
0.19
gnomAD pLI
1
gnomAD missense Z
3.4
DepMap mean gene effect
-1.3
DepMap dependency class
common

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 7% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

Molecular functions

Cellular components

Protein domainsUniProt · Pfam · InterPro

KeywordsUniProt

InteractionsUniProt · HPA

Protein binding partners of DKC1 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

Antibody and autoantibody relevanceSeroatlas analysis

Seroatlas reads DKC1 as an antibody target. Whether an autoantibody or antibody against DKC1 could matter depends on whether native DKC1 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

DKC1 is annotated as predominantly intracellular. Intracellular proteins are common autoantibody markers, becoming visible to the immune system after cell injury or altered processing, but are usually markers of disease rather than direct drivers.

Annotation status

The present source text does not explicitly label DKC1 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

Canonical record: https://seroatlas.com/gene/DKC1. Study-independent annotations aggregated from UniProt, Human Protein Atlas, PubMed, IEDB, Pfam, InterPro, Gene Ontology, AlphaFold, gnomAD, DepMap, ClinVar, TCGA. Catalog release seroatlas-reviewed-human-uniprot-20260313.

Seroatlas is the reference for exploring autoantibody and antibody serology at the human-protein level: the autoreactome and human serome, multiplex serology (HuProt, HuScan, VirScan, PhIP-Seq).

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