Entity Details

Primary name RL21_HUMAN
Entity type UniProt
Source Source Link

Details

AccessionP46778
EntryNameRL21_HUMAN
FullName60S ribosomal protein L21
TaxID9606
Evidenceevidence at protein level
Length160
SequenceStatuscomplete
DateCreated1995-11-01
DateModified2021-06-02

Ontological Relatives

GenesRPL21

GO terms

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GOName
GO:0000184 nuclear-transcribed mRNA catabolic process, nonsense-mediated decay
GO:0002181 cytoplasmic translation
GO:0003723 RNA binding
GO:0003735 structural constituent of ribosome
GO:0005783 endoplasmic reticulum
GO:0005829 cytosol
GO:0006364 rRNA processing
GO:0006412 translation
GO:0006413 translational initiation
GO:0006614 SRP-dependent cotranslational protein targeting to membrane
GO:0016020 membrane
GO:0019083 viral transcription
GO:0022625 cytosolic large ribosomal subunit
GO:0022626 cytosolic ribosome

Subcellular Location

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Subcellular Location
Cytoplasm
Endoplasmic reticulum

Domains

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DomainNameCategoryType
IPR001147 Ribosomal protein L21eFamilyFamily
IPR008991 Translation protein SH3-like domain superfamilyFamilyHomologous superfamily
IPR018259 Ribosomal protein L21e, conserved siteSiteConserved site
IPR036948 Ribosomal protein L21 superfamilyFamilyHomologous superfamily

Diseases

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Disease IDSourceNameDescription
615885 OMIMHypotrichosis 12 (HYPT12)A form of hypotrichosis, a condition characterized by the presence of less than the normal amount of hair and abnormal hair follicles and shafts, which are thin and atrophic. The extent of scalp and body hair involvement can be very variable, within as well as between families. HYPT12 patients have normal scalp hair density at birth. Hair loss begins during the first 6 months of life and gradually progresses to nearly complete loss of scalp hair. The remaining hairs grow slowly and are thin, sparse, dry, and fragile. Body hair, axillary and pubic hair, eyebrows and eyelashes are also sparse or absent. HYPT12 inheritance is autosomal dominant. The disease is caused by variants affecting the gene represented in this entry.