Entity Details

Primary name TCAB1_HUMAN
Entity type UniProt
Source Source Link

Details

AccessionQ9BUR4
EntryNameTCAB1_HUMAN
FullNameTelomerase Cajal body protein 1
TaxID9606
Evidenceevidence at protein level
Length548
SequenceStatuscomplete
DateCreated2006-06-27
DateModified2021-06-02

Ontological Relatives

GenesWRAP53

GO terms

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GOName
GO:0000781 chromosome, telomeric region
GO:0003723 RNA binding
GO:0005654 nucleoplasm
GO:0005697 telomerase holoenzyme complex
GO:0005829 cytosol
GO:0006281 DNA repair
GO:0007004 telomere maintenance via telomerase
GO:0015030 Cajal body
GO:0016032 viral process
GO:0016604 nuclear body
GO:0030576 Cajal body organization
GO:0031625 ubiquitin protein ligase binding
GO:0032203 telomere formation via telomerase
GO:0034337 RNA folding
GO:0035861 site of double-strand break
GO:0042393 histone binding
GO:0042802 identical protein binding
GO:0044877 protein-containing complex binding
GO:0045739 positive regulation of DNA repair
GO:0051087 chaperone binding
GO:0051973 positive regulation of telomerase activity
GO:0070034 telomerase RNA binding
GO:0090666 scaRNA localization to Cajal body
GO:0090671 telomerase RNA localization to Cajal body
GO:1904851 positive regulation of establishment of protein localization to telomere
GO:1904867 protein localization to Cajal body
GO:1905168 positive regulation of double-strand break repair via homologous recombination
GO:2000781 positive regulation of double-strand break repair
GO:2001034 positive regulation of double-strand break repair via nonhomologous end joining

Subcellular Location

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Subcellular Location
Chromosome
Nucleus

Domains

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DomainNameCategoryType
IPR001680 WD40 repeatRepeatRepeat
IPR015943 WD40/YVTN repeat-like-containing domain superfamilyFamilyHomologous superfamily
IPR036322 WD40-repeat-containing domain superfamilyFamilyHomologous superfamily

Diseases

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Disease IDSourceNameDescription
613988 OMIMDyskeratosis congenita, autosomal recessive, 3 (DKCB3)A rare multisystem disorder caused by defective telomere maintenance. It is characterized by progressive bone marrow failure, and the clinical triad of reticulated skin hyperpigmentation, nail dystrophy, and mucosal leukoplakia. Common but variable features include premature graying, aplastic anemia, low platelets, osteoporosis, pulmonary fibrosis, and liver fibrosis among others. Early mortality is often associated with bone marrow failure, infections, fatal pulmonary complications, or malignancy. The disease is caused by variants affecting the gene represented in this entry.