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Aliases for RPS27A Gene

Aliases for RPS27A Gene

  • Ribosomal Protein S27a 2 3 5
  • Ubiquitin Carboxyl Extension Protein 80 2 3 4
  • UBCEP1 3 4
  • UBA80 3 4
  • Ubiquitin And Ribosomal Protein S27a 3
  • Epididymis Luminal Protein 112 3
  • 40S Ribosomal Protein S27a 3
  • Ubiquitin-CEP80 3
  • Ubiquitin C 3
  • UBCEP80 3
  • HEL112 3
  • CEP80 3
  • S27A 3
  • UBC 3

External Ids for RPS27A Gene

Previous GeneCards Identifiers for RPS27A Gene

  • GC02P055497
  • GC02P055646
  • GC02P055417
  • GC02P055434
  • GC02P055371
  • GC02P055313
  • GC02P055459
  • GC02P055193

Summaries for RPS27A Gene

Entrez Gene Summary for RPS27A Gene

  • Ubiquitin, a highly conserved protein that has a major role in targeting cellular proteins for degradation by the 26S proteosome, is synthesized as a precursor protein consisting of either polyubiquitin chains or a single ubiquitin fused to an unrelated protein. This gene encodes a fusion protein consisting of ubiquitin at the N terminus and ribosomal protein S27a at the C terminus. When expressed in yeast, the protein is post-translationally processed, generating free ubiquitin monomer and ribosomal protein S27a. Ribosomal protein S27a is a component of the 40S subunit of the ribosome and belongs to the S27AE family of ribosomal proteins. It contains C4-type zinc finger domains and is located in the cytoplasm. Pseudogenes derived from this gene are present in the genome. As with ribosomal protein S27a, ribosomal protein L40 is also synthesized as a fusion protein with ubiquitin; similarly, ribosomal protein S30 is synthesized as a fusion protein with the ubiquitin-like protein fubi. Multiple alternatively spliced transcript variants that encode the same proteins have been identified.[provided by RefSeq, Sep 2008]

GeneCards Summary for RPS27A Gene

RPS27A (Ribosomal Protein S27a) is a Protein Coding gene. Diseases associated with RPS27A include Oculopharyngeal Muscular Dystrophy and Inclusion Body Myositis. Among its related pathways are Cell Cycle Checkpoints and Mitotic Metaphase and Anaphase. GO annotations related to this gene include poly(A) RNA binding and structural constituent of ribosome.

UniProtKB/Swiss-Prot for RPS27A Gene

  • Ubiquitin: Exists either covalently attached to another protein, or free (unanchored). When covalently bound, it is conjugated to target proteins via an isopeptide bond either as a monomer (monoubiquitin), a polymer linked via different Lys residues of the ubiquitin (polyubiquitin chains) or a linear polymer linked via the initiator Met of the ubiquitin (linear polyubiquitin chains). Polyubiquitin chains, when attached to a target protein, have different functions depending on the Lys residue of the ubiquitin that is linked: Lys-6-linked may be involved in DNA repair; Lys-11-linked is involved in ERAD (endoplasmic reticulum-associated degradation) and in cell-cycle regulation; Lys-29-linked is involved in lysosomal degradation; Lys-33-linked is involved in kinase modification; Lys-48-linked is involved in protein degradation via the proteasome; Lys-63-linked is involved in endocytosis, DNA-damage responses as well as in signaling processes leading to activation of the transcription factor NF-kappa-B. Linear polymer chains formed via attachment by the initiator Met lead to cell signaling. Ubiquitin is usually conjugated to Lys residues of target proteins, however, in rare cases, conjugation to Cys or Ser residues has been observed. When polyubiquitin is free (unanchored-polyubiquitin), it also has distinct roles, such as in activation of protein kinases, and in signaling.

  • 40S Ribosomal protein S27a: Component of the 40S subunit of the ribosome.

Gene Wiki entry for RPS27A Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for RPS27A Gene

Genomics for RPS27A Gene

Regulatory Elements for RPS27A Gene

Enhancers for RPS27A Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around RPS27A on UCSC Golden Path with GeneCards custom track

Promoters for RPS27A Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around RPS27A on UCSC Golden Path with GeneCards custom track

Genomic Location for RPS27A Gene

Chromosome:
2
Start:
55,231,903 bp from pter
End:
55,235,853 bp from pter
Size:
3,951 bases
Orientation:
Plus strand

Genomic View for RPS27A Gene

Genes around RPS27A on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
RPS27A Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for RPS27A Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for RPS27A Gene

Proteins for RPS27A Gene

  • Protein details for RPS27A Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P62979-RS27A_HUMAN
    Recommended name:
    Ubiquitin-40S ribosomal protein S27a
    Protein Accession:
    P62979
    Secondary Accessions:
    • P02248
    • P02249
    • P02250
    • P14798
    • P62988
    • Q29120
    • Q6LBL4
    • Q6LDU5
    • Q8WYN8
    • Q91887
    • Q91888
    • Q9BQ77
    • Q9BWD6
    • Q9BX98
    • Q9UEF2
    • Q9UEG1
    • Q9UEK8
    • Q9UPK7

    Protein attributes for RPS27A Gene

    Size:
    156 amino acids
    Molecular mass:
    17965 Da
    Quaternary structure:
    • Ribosomal protein S27a is part of the 40S ribosomal subunit.
    Miscellaneous:
    • For a better understanding, features related to ubiquitin are only indicated for the first chain.
    • Ubiquitin is encoded by 4 different genes. UBA52 and RPS27A genes code for a single copy of ubiquitin fused to the ribosomal proteins L40 and S27a, respectively. UBB and UBC genes code for a polyubiquitin precursor with exact head to tail repeats, the number of repeats differ between species and strains.

    Three dimensional structures from OCA and Proteopedia for RPS27A Gene

neXtProt entry for RPS27A Gene

Proteomics data for RPS27A Gene at MOPED

Post-translational modifications for RPS27A Gene

  • Ubiquitin: Phosphorylated at Ser-65 by PINK1 during mitophagy. Phosphorylated ubiquitin specifically binds and activates parkin (PARK2), triggering mitophagy (PubMed:24660806, PubMed:24751536, PubMed:24784582, PubMed:25527291). Phosphorylation does not affect E1-mediated E2 charging of ubiquitin but affects discharging of E2 enzymes to form polyubiquitin chains. It also affects deubiquitination by deubiquitinase enzymes such as USP30 (PubMed:25527291).
  • Ubiquitination at Lys 6, Lys 11, Lys 27, Lys 29, Lys 33, Lys 48, Lys 63, Lys 113, and Lys 143
  • Modification sites at PhosphoSitePlus

Other Protein References for RPS27A Gene

Antibody Products

  • Cell Signaling Technology (CST) Antibodies for RPS27A (RPS27A)

No data available for DME Specific Peptides for RPS27A Gene

Domains & Families for RPS27A Gene

Gene Families for RPS27A Gene

Graphical View of Domain Structure for InterPro Entry

P62979

UniProtKB/Swiss-Prot:

RS27A_HUMAN :
  • Contains 1 ubiquitin-like domain.
  • In the N-terminal section; belongs to the ubiquitin family.
Domain:
  • Contains 1 ubiquitin-like domain.
Family:
  • In the N-terminal section; belongs to the ubiquitin family.
  • In the C-terminal section; belongs to the ribosomal protein S27Ae family.
genes like me logo Genes that share domains with RPS27A: view

Function for RPS27A Gene

Molecular function for RPS27A Gene

GENATLAS Biochemistry:
60S ribosomal protein S27A
UniProtKB/Swiss-Prot Function:
Ubiquitin: Exists either covalently attached to another protein, or free (unanchored). When covalently bound, it is conjugated to target proteins via an isopeptide bond either as a monomer (monoubiquitin), a polymer linked via different Lys residues of the ubiquitin (polyubiquitin chains) or a linear polymer linked via the initiator Met of the ubiquitin (linear polyubiquitin chains). Polyubiquitin chains, when attached to a target protein, have different functions depending on the Lys residue of the ubiquitin that is linked: Lys-6-linked may be involved in DNA repair; Lys-11-linked is involved in ERAD (endoplasmic reticulum-associated degradation) and in cell-cycle regulation; Lys-29-linked is involved in lysosomal degradation; Lys-33-linked is involved in kinase modification; Lys-48-linked is involved in protein degradation via the proteasome; Lys-63-linked is involved in endocytosis, DNA-damage responses as well as in signaling processes leading to activation of the transcription factor NF-kappa-B. Linear polymer chains formed via attachment by the initiator Met lead to cell signaling. Ubiquitin is usually conjugated to Lys residues of target proteins, however, in rare cases, conjugation to Cys or Ser residues has been observed. When polyubiquitin is free (unanchored-polyubiquitin), it also has distinct roles, such as in activation of protein kinases, and in signaling.
UniProtKB/Swiss-Prot Function:
40S Ribosomal protein S27a: Component of the 40S subunit of the ribosome.
genes like me logo Genes that share phenotypes with RPS27A: view

Animal Model Products

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for RPS27A Gene

Localization for RPS27A Gene

Subcellular locations from UniProtKB/Swiss-Prot for RPS27A Gene

Ubiquitin: Cytoplasm. Nucleus.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for RPS27A Gene COMPARTMENTS Subcellular localization image for RPS27A gene
Compartment Confidence
cytosol 5
extracellular 5
nucleus 5
endosome 4
plasma membrane 4
cytoskeleton 1

Gene Ontology (GO) - Cellular Components for RPS27A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0010008 endosome membrane TAS --
GO:0022627 cytosolic small ribosomal subunit IDA 8706699
genes like me logo Genes that share ontologies with RPS27A: view

Pathways & Interactions for RPS27A Gene

SuperPathways for RPS27A Gene

Superpath Contained pathways
1 CDK-mediated phosphorylation and removal of Cdc6
.78
2 Interleukin-3, 5 and GM-CSF signaling
3 Viral mRNA Translation
.60
4 MyD88 cascade initiated on plasma membrane
5 Translesion synthesis by Y family DNA polymerases bypasses lesions on DNA template
genes like me logo Genes that share pathways with RPS27A: view

Gene Ontology (GO) - Biological Process for RPS27A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000086 G2/M transition of mitotic cell cycle TAS --
GO:0000165 MAPK cascade TAS --
GO:0000184 nuclear-transcribed mRNA catabolic process, nonsense-mediated decay TAS --
GO:0000186 activation of MAPKK activity TAS --
GO:0000187 activation of MAPK activity TAS --
genes like me logo Genes that share ontologies with RPS27A: view

No data available for SIGNOR curated interactions for RPS27A Gene

Drugs & Compounds for RPS27A Gene

(49) Drugs for RPS27A Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials

(66) Additional Compounds for RPS27A Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with RPS27A: view

Transcripts for RPS27A Gene

Unigene Clusters for RPS27A Gene

Ribosomal protein S27a:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for RPS27A Gene

ExUns: 1a · 1b ^ 2 ^ 3 ^ 4 ^ 5
SP1:
SP2:

Relevant External Links for RPS27A Gene

GeneLoc Exon Structure for
RPS27A
ECgene alternative splicing isoforms for
RPS27A

Expression for RPS27A Gene

mRNA expression in normal human tissues for RPS27A Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for RPS27A Gene

This gene is overexpressed in Brain (20.0) and Skin (8.5).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MOPED, and MaxQB for RPS27A Gene



SOURCE GeneReport for Unigene cluster for RPS27A Gene Hs.311640

genes like me logo Genes that share expression patterns with RPS27A: view

Protein tissue co-expression partners for RPS27A Gene

- Elite partner

Primer Products

No data available for mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt for RPS27A Gene

Orthologs for RPS27A Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for RPS27A Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia RPS27A 35
  • 92.95 (n)
  • 100 (a)
RPS27A 36
  • 100 (a)
OneToOne
dog
(Canis familiaris)
Mammalia RPS27A 35
  • 94.44 (n)
  • 100 (a)
-- 36
  • 97 (a)
OneToMany
RPS27A 36
  • 100 (a)
OneToMany
mouse
(Mus musculus)
Mammalia Rps27a 35
  • 92.52 (n)
  • 99.36 (a)
Rps27a 16
Rps27a 36
  • 99 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia LOC101059860 35
  • 99.79 (n)
  • 100 (a)
RPS27A 36
  • 99 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Rps27a 35
  • 91.03 (n)
  • 99.36 (a)
oppossum
(Monodelphis domestica)
Mammalia -- 36
  • 96 (a)
OneToMany
-- 36
  • 85 (a)
OneToMany
platypus
(Ornithorhynchus anatinus)
Mammalia RPS27A 36
  • 81 (a)
OneToOne
chicken
(Gallus gallus)
Aves RPS27A 35
  • 87.18 (n)
  • 99.36 (a)
RPS27A 36
  • 99 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia RPS27A 36
  • 99 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia rps27a 35
  • 85.47 (n)
  • 100 (a)
zebrafish
(Danio rerio)
Actinopterygii -- 35
rps27a 35
  • 84.19 (n)
  • 98.72 (a)
rps27a 36
  • 99 (a)
OneToOne
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.8914 35
fruit fly
(Drosophila melanogaster)
Insecta Ubi-p63E 37
  • 100 (a)
RpS27A 35
  • 77.78 (n)
  • 91.03 (a)
RpS27A 36
  • 91 (a)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea F34H10.1 36
  • 28 (a)
OneToMany
K08C9.7 36
  • 26 (a)
OneToMany
ubl-1 36
  • 54 (a)
OneToMany
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_AGL128W 35
  • 70.27 (n)
  • 81.76 (a)
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0D18304g 35
  • 70.67 (n)
  • 81.33 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes RPS31 35
  • 71.3 (n)
  • 82.78 (a)
RPS31 36
  • 82 (a)
OneToOne
RPS31 38
thale cress
(Arabidopsis thaliana)
eudicotyledons UBQ6 35
  • 74.56 (n)
  • 85.53 (a)
Alicante grape
(Vitis vinifera)
eudicotyledons Vvi.7312 35
rice
(Oryza sativa)
Liliopsida Os01g0328400 35
  • 72.15 (n)
  • 85.53 (a)
bread mold
(Neurospora crassa)
Ascomycetes NCU04553 35
  • 70.39 (n)
  • 86.18 (a)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes ubi3 35
  • 78.16 (n)
  • 84.83 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 79 (a)
OneToOne
Species with no ortholog for RPS27A:
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • 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 RPS27A Gene

ENSEMBL:
Gene Tree for RPS27A (if available)
TreeFam:
Gene Tree for RPS27A (if available)

Paralogs for RPS27A Gene

genes like me logo Genes that share paralogs with RPS27A: view

No data available for Paralogs for RPS27A Gene

Variants for RPS27A Gene

Sequence variations from dbSNP and Humsavar for RPS27A Gene

SNP ID Clin Chr 02 pos Sequence Context AA Info Type
rs2230613 -- 55,234,855(+) TGTTG(A/C)GACTT reference, synonymous-codon
rs13028202 -- 55,235,431(+) AGGTG(A/G)ATGAG reference, missense
rs13028392 -- 55,235,434(+) TGGAT(A/G)AGAAT reference, missense
rs2576722 -- 55,234,687(-) GTATC(A/T)GATTC intron-variant
rs34511570 -- 55,235,967(+) TTGAG(C/T)GTCCA downstream-variant-500B

Structural Variations from Database of Genomic Variants (DGV) for RPS27A Gene

Variant ID Type Subtype PubMed ID
esv2720078 CNV Deletion 23290073
nsv522016 CNV Gain 19592680

Variation tolerance for RPS27A Gene

Residual Variation Intolerance Score: 33.7% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.18; 4.02% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for RPS27A Gene

Human Gene Mutation Database (HGMD)
RPS27A

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for RPS27A Gene

Disorders for RPS27A Gene

MalaCards: The human disease database

(19) MalaCards diseases for RPS27A Gene - From: DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
oculopharyngeal muscular dystrophy
  • muscular dystrophy, oculopharyngeal
inclusion body myositis
  • nonaka myopathy
infantile neuroaxonal dystrophy 1
  • pla2g6-associated neurodegeneration
neuronal intranuclear inclusion disease
  • neuronal intranuclear hyaline inclusion disease
machado-joseph disease
  • azorean disease
- elite association - COSMIC cancer census association via MalaCards

Relevant External Links for RPS27A

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
RPS27A
genes like me logo Genes that share disorders with RPS27A: view

No data available for UniProtKB/Swiss-Prot and Genatlas for RPS27A Gene

Publications for RPS27A Gene

  1. A map of 75 human ribosomal protein genes. (PMID: 9582194) Kenmochi N. … Page D.C. (Genome Res. 1998) 2 3 4 67
  2. Regulation of follitropin receptor cell surface residency by the ubiquitin-proteasome pathway. (PMID: 12960054) Cohen B.D. … Dias J.A. (Endocrinology 2003) 3 23
  3. Structure of the human ubiquitin fusion gene Uba80 (RPS27a) and one of its pseudogenes. (PMID: 10772958) Kirschner L.S. … Stratakis C.A. (Biochem. Biophys. Res. Commun. 2000) 3 23
  4. Effect of ubiquitin on platelet functions: possible identity with platelet activity suppressive lymphokine (PASL). (PMID: 1657614) Pancre V. … Auriault C. (Eur. J. Immunol. 1991) 3 23
  5. Reversible oxidation of phosphatase and tensin homolog (PTEN) alters its interactions with signaling and regulatory proteins. (PMID: 26561776) Verrastro I. … Pitt A.R. (Free Radic. Biol. Med. 2016) 3

Products for RPS27A Gene

Sources for RPS27A Gene

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