Entity Details

Primary name DCR1B_HUMAN
Entity type UniProt
Source Source Link

Details

AccessionQ9H816
EntryNameDCR1B_HUMAN
FullName5' exonuclease Apollo
TaxID9606
Evidenceevidence at protein level
Length532
SequenceStatuscomplete
DateCreated2005-08-16
DateModified2021-06-02

Ontological Relatives

GenesDCLRE1B

GO terms

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GOName
GO:0000723 telomere maintenance
GO:0000781 chromosome, telomeric region
GO:0003684 damaged DNA binding
GO:0005654 nucleoplasm
GO:0005737 cytoplasm
GO:0005813 centrosome
GO:0006303 double-strand break repair via nonhomologous end joining
GO:0007093 mitotic cell cycle checkpoint signaling
GO:0008409 5'-3' exonuclease activity
GO:0010833 telomere maintenance via telomere lengthening
GO:0016233 telomere capping
GO:0016604 nuclear body
GO:0031627 telomeric loop formation
GO:0031848 protection from non-homologous end joining at telomere
GO:0031860 telomeric 3' overhang formation
GO:0035312 5'-3' exodeoxyribonuclease activity
GO:0036297 interstrand cross-link repair
GO:0042803 protein homodimerization activity
GO:0044877 protein-containing complex binding

Subcellular Location

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Subcellular Location
Chromosome
Cytoplasm
Nucleus

Domains

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DomainNameCategoryType
IPR011084 DNA repair metallo-beta-lactamaseDomainDomain
IPR036866 Ribonuclease Z/Hydroxyacylglutathione hydrolase-likeFamilyHomologous superfamily

Diseases

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Disease IDSourceNameDescription
305000 OMIMDyskeratosis congenita, X-linked (DKCX)A rare, progressive bone marrow failure syndrome characterized by the triad of reticulated skin hyperpigmentation, nail dystrophy, and mucosal leukoplakia. Early mortality is often associated with bone marrow failure, infections, fatal pulmonary complications, or malignancy. The gene represented in this entry may be involved in disease pathogenesis. An aberrant splice variant of DCLRE1B, designated Apollo-Delta, has been found in a patient with Hoyeraal-Hreidarsson syndrome (PubMed:20479256). Apollo-Delta hampers the proper replication of telomeres, leading to major telomeric dysfunction and cellular senescence, but maintains its DNA interstrand cross-link repair function in the whole genome.