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Aliases for RPL21 Gene

Aliases for RPL21 Gene

  • Ribosomal Protein L21 2 3 5
  • Large Ribosomal Subunit Protein EL21 3 4
  • 60S Ribosomal Protein L21 2 3
  • HYPT12 3
  • L21 3

External Ids for RPL21 Gene

Previous GeneCards Identifiers for RPL21 Gene

  • GC10M121019
  • GC13P021805
  • GC13P026755
  • GC13P025623
  • GC13P026723
  • GC13P027827

Summaries for RPL21 Gene

Entrez Gene Summary for RPL21 Gene

  • Ribosomes, the organelles that catalyze protein synthesis, consist of a small 40S subunit and a large 60S subunit. Together these subunits are composed of 4 RNA species and approximately 80 structurally distinct proteins. This gene encodes a ribosomal protein that is a component of the 60S subunit. The protein belongs to the L21E family of ribosomal proteins. It is located in the cytoplasm. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through the genome. [provided by RefSeq, Jul 2008]

GeneCards Summary for RPL21 Gene

RPL21 (Ribosomal Protein L21) is a Protein Coding gene. Diseases associated with RPL21 include Hypotrichosis 12 and Hypotrichosis Simplex. Among its related pathways are Viral mRNA Translation and Influenza Viral RNA Transcription and Replication. Gene Ontology (GO) annotations related to this gene include structural constituent of ribosome.

UniProtKB/Swiss-Prot for RPL21 Gene

  • Component of the large ribosomal subunit.

Gene Wiki entry for RPL21 Gene

Additional gene information for RPL21 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for RPL21 Gene

Genomics for RPL21 Gene

GeneHancer (GH) Regulatory Elements for RPL21 Gene

Promoters and enhancers for RPL21 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH13I027250 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE dbSUPER 550.8 +1.0 969 4.1 PKNOX1 FOXA2 ARID4B SIN3A DMAP1 ZNF2 IRF4 YY1 POLR2B ZNF766 GC13M027245 LINC02340 RPL21 USP12 WASF3 PAN3 SNORA27 MTIF3 PIR55933
GH13I027958 Promoter/Enhancer 2 EPDnew FANTOM5 ENCODE dbSUPER 12.8 +719.2 719228 23.4 HDGF PKNOX1 FOXA2 MLX ARNT ARID4B SIN3A FEZF1 ZNF2 YY1 CDX2 URAD RPL21 PLUT PDX1 GSX1 RN7SL272P LNX2 FLT3 LOC105370132
GH13I027167 Promoter/Enhancer 2 EPDnew Ensembl ENCODE 11.7 -80.6 -80606 5.9 ATF1 ARNT ARID4B SIN3A FEZF1 DMAP1 ZNF48 YY1 TCF12 GLIS2 USP12 USP12-AS2 SNORA27 RPL21 SNORD102 RASL11A LINC00412 USP12-AS1
GH13I027137 Enhancer 0.9 ENCODE 24 -113.0 -113023 1.8 PKNOX1 ATF1 TCF12 ZNF766 GATA2 CAVIN1 NCOA1 ZNF592 MEF2D GMEB1 RPL21 SNORA27 USP12 USP12-AS2 PAN3 SNORD102 LINC00412 RASL11A USP12-AS1
GH13I027034 Enhancer 1.3 FANTOM5 Ensembl ENCODE dbSUPER 11.8 -214.9 -214935 3.5 SMARCC1 NRF1 SIN3A BACH1 ZMYM3 ZNF16 ZIC2 NR2F2 SP1 FOSL1 RPL21 RASL11A RNU6-70P POLR1D WASF3 GPR12 GC13P027043 RPS20P32
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around RPL21 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the RPL21 gene promoter:

Genomic Locations for RPL21 Gene

Genomic Locations for RPL21 Gene
chr13:27,251,309-27,256,691
(GRCh38/hg38)
Size:
5,383 bases
Orientation:
Plus strand
chr13:27,825,446-27,830,828
(GRCh37/hg19)

Genomic View for RPL21 Gene

Genes around RPL21 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
RPL21 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for RPL21 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for RPL21 Gene

Proteins for RPL21 Gene

  • Protein details for RPL21 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P46778-RL21_HUMAN
    Recommended name:
    60S ribosomal protein L21
    Protein Accession:
    P46778
    Secondary Accessions:
    • Q16699

    Protein attributes for RPL21 Gene

    Size:
    160 amino acids
    Molecular mass:
    18565 Da
    Quaternary structure:
    • Component of the large ribosomal subunit.

    Three dimensional structures from OCA and Proteopedia for RPL21 Gene

neXtProt entry for RPL21 Gene

Post-translational modifications for RPL21 Gene

  • Ubiquitination at Lys21 and isoforms=43

Other Protein References for RPL21 Gene

No data available for DME Specific Peptides for RPL21 Gene

Domains & Families for RPL21 Gene

Gene Families for RPL21 Gene

HGNC:
Human Protein Atlas (HPA):
  • Disease related genes
  • Predicted intracellular proteins
  • Ribosomal proteins

Suggested Antigen Peptide Sequences for RPL21 Gene

Graphical View of Domain Structure for InterPro Entry

P46778

UniProtKB/Swiss-Prot:

RL21_HUMAN :
  • Belongs to the eukaryotic ribosomal protein eL21 family.
Family:
  • Belongs to the eukaryotic ribosomal protein eL21 family.
genes like me logo Genes that share domains with RPL21: view

Function for RPL21 Gene

Molecular function for RPL21 Gene

GENATLAS Biochemistry:
60S ribosomal protein L21,gene or pseudogene
UniProtKB/Swiss-Prot Function:
Component of the large ribosomal subunit.

Phenotypes From GWAS Catalog for RPL21 Gene

Gene Ontology (GO) - Molecular Function for RPL21 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003723 RNA binding HDA,TAS 22658674
GO:0003735 structural constituent of ribosome IEA,NAS 12962325
GO:0005515 protein binding IPI 24965446
genes like me logo Genes that share ontologies with RPL21: view
genes like me logo Genes that share phenotypes with RPL21: view

Human Phenotype Ontology for RPL21 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Clone Products

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targets and HOMER Transcription for RPL21 Gene

Localization for RPL21 Gene

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for RPL21 gene
Compartment Confidence
cytosol 5
nucleus 3
mitochondrion 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (3)
  • Endoplasmic reticulum (3)
  • Nucleoli fibrillar center (3)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for RPL21 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005622 intracellular IEA --
GO:0005829 cytosol TAS --
GO:0005840 ribosome IEA --
GO:0016020 membrane HDA,IDA 19946888
GO:0022625 cytosolic large ribosomal subunit TAS,HDA 12962325
genes like me logo Genes that share ontologies with RPL21: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot for RPL21 Gene

Pathways & Interactions for RPL21 Gene

genes like me logo Genes that share pathways with RPL21: view

Pathways by source for RPL21 Gene

1 KEGG pathway for RPL21 Gene
1 GeneGo (Thomson Reuters) pathway for RPL21 Gene

Gene Ontology (GO) - Biological Process for RPL21 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000184 nuclear-transcribed mRNA catabolic process, nonsense-mediated decay TAS --
GO:0006364 rRNA processing TAS --
GO:0006412 translation NAS,IEA 12962325
GO:0006413 translational initiation TAS --
GO:0006614 SRP-dependent cotranslational protein targeting to membrane TAS --
genes like me logo Genes that share ontologies with RPL21: view

No data available for SIGNOR curated interactions for RPL21 Gene

Drugs & Compounds for RPL21 Gene

No Compound Related Data Available

Transcripts for RPL21 Gene

Unigene Clusters for RPL21 Gene

Ribosomal protein L21:
Representative Sequences:

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for RPL21 Gene

No ASD Table

Relevant External Links for RPL21 Gene

GeneLoc Exon Structure for
RPL21
ECgene alternative splicing isoforms for
RPL21

Expression for RPL21 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for RPL21 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for RPL21 Gene

This gene is overexpressed in Amniocyte (11.1) and Tlymphocyte (8.7).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for RPL21 Gene



Protein tissue co-expression partners for RPL21 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of RPL21 Gene:

RPL21

SOURCE GeneReport for Unigene cluster for RPL21 Gene:

Hs.381123

Evidence on tissue expression from TISSUES for RPL21 Gene

  • Pancreas(4.9)
  • Nervous system(4.9)
  • Intestine(4.8)
  • Muscle(4.8)
  • Liver(4.6)
  • Eye(4.3)
  • Lung(4.2)
  • Skin(4)
  • Blood(3.6)
  • Stomach(3.5)
  • Heart(3.2)
  • Bone(2.9)
  • Kidney(2.5)

Phenotype-based relationships between genes and organs from Gene ORGANizer for RPL21 Gene

Germ Layers:
  • ectoderm
  • mesoderm
Systems:
  • cardiovascular
  • immune
  • integumentary
Regions:
Head and neck:
  • eye
  • eyelid
  • face
  • forehead
  • head
Limb:
  • arm
  • upper limb
General:
  • hair
  • skin
genes like me logo Genes that share expression patterns with RPL21: view

No data available for mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt for RPL21 Gene

Orthologs for RPL21 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for RPL21 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia -- 34
  • 100 (a)
OneToMany
-- 34
  • 100 (a)
OneToMany
dog
(Canis familiaris)
Mammalia -- 34
  • 99 (a)
OneToMany
RPL21 33 34
  • 95.21 (n)
oppossum
(Monodelphis domestica)
Mammalia -- 34
  • 99 (a)
OneToMany
-- 34
  • 97 (a)
OneToMany
mouse
(Mus musculus)
Mammalia Rpl21-ps6 34
  • 94 (a)
OneToMany
Rpl21-ps4 34
  • 93 (a)
OneToMany
Rpl21 33 16 34
  • 89.17 (n)
cow
(Bos Taurus)
Mammalia RPL21 33 34
  • 93.12 (n)
rat
(Rattus norvegicus)
Mammalia Rpl21 33
  • 88.75 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia RPL21 34
  • 76 (a)
OneToOne
chicken
(Gallus gallus)
Aves RPL21 33 34
  • 85 (n)
lizard
(Anolis carolinensis)
Reptilia RPL21 34
  • 94 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia rpl21 33
  • 78.12 (n)
zebrafish
(Danio rerio)
Actinopterygii rpl21 33 34
  • 76.46 (n)
-- 33
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.8730 33
fruit fly
(Drosophila melanogaster)
Insecta CG12775 35
  • 72 (a)
RpL21 33 34
  • 67.3 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP012138 33
  • 60.17 (n)
worm
(Caenorhabditis elegans)
Secernentea rpl-21 35 33 34
  • 59.79 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes RPL21B 33 34
  • 60.93 (n)
RPL21A 34 36 36 36
  • 59 (a)
OneToMany
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0E23651g 33
  • 60.08 (n)
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_AEL254W 33
  • 59.45 (n)
thale cress
(Arabidopsis thaliana)
eudicotyledons AT1G09590 33
  • 56.26 (n)
rice
(Oryza sativa)
Liliopsida Os03g0141000 33
  • 52.65 (n)
barley
(Hordeum vulgare)
Liliopsida Hv.8168 33
sea squirt
(Ciona savignyi)
Ascidiacea CSA.11307 34
  • 71 (a)
OneToOne
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes rpl2102 33
  • 61.78 (n)
bread mold
(Neurospora crassa)
Ascomycetes NCU01948 33
  • 55.41 (n)
Species where no ortholog for RPL21 was found in the sources mined by GeneCards:
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • beta proteobacteria (Neisseria meningitidis)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for RPL21 Gene

ENSEMBL:
Gene Tree for RPL21 (if available)
TreeFam:
Gene Tree for RPL21 (if available)

Paralogs for RPL21 Gene

(1) SIMAP similar genes for RPL21 Gene using alignment to 5 proteins:

Pseudogenes.org Pseudogenes for RPL21 Gene

genes like me logo Genes that share paralogs with RPL21: view

No data available for Paralogs for RPL21 Gene

Variants for RPL21 Gene

Sequence variations from dbSNP and Humsavar for RPL21 Gene

SNP ID Clin Chr 13 pos Variation AA Info Type
rs587777527 pathogenic, Hypotrichosis 12, Hypotrichosis 12 (HYPT12) [MIM:615885] 27,254,247(+) G/A coding_sequence_variant, missense_variant
rs1001201636 -- 27,252,738(+) G/A intron_variant
rs1001652937 -- 27,253,070(+) G/C intron_variant
rs1002343812 -- 27,256,347(+) T/C/G intron_variant
rs1002384259 -- 27,255,960(+) C/T intron_variant

Structural Variations from Database of Genomic Variants (DGV) for RPL21 Gene

Variant ID Type Subtype PubMed ID
nsv948206 CNV duplication 23825009
nsv976098 CNV duplication 23825009

Variation tolerance for RPL21 Gene

Residual Variation Intolerance Score: 51.5% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.04; 0.88% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for RPL21 Gene

Human Gene Mutation Database (HGMD)
RPL21
SNPedia medical, phenotypic, and genealogical associations of SNPs for
RPL21

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for RPL21 Gene

Disorders for RPL21 Gene

MalaCards: The human disease database

(3) MalaCards diseases for RPL21 Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, Swiss-Prot, and GeneCards

Disorder Aliases PubMed IDs
hypotrichosis 12
  • hypt12
hypotrichosis simplex
  • hhs
hypotrichosis
- elite association - COSMIC cancer census association via MalaCards
Search RPL21 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

RL21_HUMAN
  • Hypotrichosis 12 (HYPT12) [MIM:615885]: 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. {ECO:0000269 PubMed:21412954}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for RPL21

genes like me logo Genes that share disorders with RPL21: view

No data available for Genatlas for RPL21 Gene

Publications for RPL21 Gene

  1. Cloning, sequencing and expression of the L5, L21, L27a, L28, S5, S9, S10 and S29 human ribosomal protein mRNAs. (PMID: 7772601) Frigerio JM … Iovanna JL (Biochimica et biophysica acta 1995) 2 3 4 22 58
  2. Characterization and analysis of posttranslational modifications of the human large cytoplasmic ribosomal subunit proteins by mass spectrometry and Edman sequencing. (PMID: 12962325) Odintsova TI … Karpova GG (Journal of protein chemistry 2003) 3 4 22 58
  3. Mutation in ribosomal protein L21 underlies hereditary hypotrichosis simplex. (PMID: 21412954) Zhou C … Zhang J (Human mutation 2011) 3 4 58
  4. Genome-wide association study of electrocardiographic and heart rate variability traits: the Framingham Heart Study. (PMID: 17903306) Newton-Cheh C … Larson MG (BMC medical genetics 2007) 3 44 58
  5. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4 58

Products for RPL21 Gene

Sources for RPL21 Gene

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