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Aliases for RPL26 Gene

Aliases for RPL26 Gene

  • Ribosomal Protein L26 2 3 5
  • Large Ribosomal Subunit Protein UL24 3 4
  • 60S Ribosomal Protein L26 3
  • DBA11 3
  • L26 3

External Ids for RPL26 Gene

Previous GeneCards Identifiers for RPL26 Gene

  • GC17M008658
  • GC17M009374
  • GC17M008223
  • GC17M008482
  • GC17M008483
  • GC17M008221
  • GC17M008280
  • GC17M008175

Summaries for RPL26 Gene

Entrez Gene Summary for RPL26 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 L24P 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. Mutations in this gene result in Diamond-Blackfan anemia. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2015]

GeneCards Summary for RPL26 Gene

RPL26 (Ribosomal Protein L26) is a Protein Coding gene. Diseases associated with RPL26 include Diamond-Blackfan Anemia 11 and Diamond-Blackfan Anemia. 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. An important paralog of this gene is RPL26L1.

UniProtKB/Swiss-Prot for RPL26 Gene

  • Component of the large ribosomal subunit.

Gene Wiki entry for RPL26 Gene

Additional gene information for RPL26 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for RPL26 Gene

Genomics for RPL26 Gene

GeneHancer (GH) Regulatory Elements for RPL26 Gene

Promoters and enhancers for RPL26 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
GH17J008628 Promoter/Enhancer 2.5 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 650.1 -247.3 -247260 4.3 PKNOX1 ARNT ARID4B SIN3A FEZF1 DMAP1 ZNF2 YY1 ZNF766 ZNF207 MYH10 RPL26 ENSG00000265749 CNTROB WRAP53 PFAS STX8 ENSG00000271029 CYB5D1 LOC105371517
GH17J008379 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 650.7 +0.5 500 6.2 ZFP64 FEZF1 DMAP1 IRF4 YY1 ZNF143 MCM3 SP3 NFYC ZNF610 KRBA2 RPL26 ENSG00000263809 ENSG00000265749 PFAS SNORD10 EIF4A1 CTC1 POLR2A SNORA48
GH17J008377 Promoter 0.6 EPDnew 650.4 +5.6 5564 0.1 PRDM10 PIR59981 KRBA2 RPL26 RNF222 ENSG00000263809 ENSG00000265749
GH17J007474 Promoter/Enhancer 2.7 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 33.1 +902.7 902661 12.5 FEZF1 DMAP1 YBX1 YY1 SLC30A9 ZNF213 E2F8 ZNF143 SP3 NFYC POLR2A ZBTB4 SLC35G6 KIAA0753 DVL2 SNORD10 PFAS CTC1 SNORA48 WRAP53
GH17J007833 Promoter/Enhancer 2.7 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 31.2 +543.5 543521 12.5 CLOCK MLX ZFP64 FEZF1 DMAP1 IRF4 YY1 ZNF213 E2F8 ZNF416 KDM6B CHD3 DVL2 PFAS CTC1 WRAP53 CNTROB POLR2A SNORD10 SNORA48
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around RPL26 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the RPL26 gene promoter:
  • AP-2beta
  • AP-2alphaA
  • AP-2alpha
  • AP-2gamma
  • AML1a
  • IRF-7A
  • HOXA3
  • SEF-1 (1)
  • MyoD
  • RelA

Genomic Locations for RPL26 Gene

Genomic Locations for RPL26 Gene
chr17:8,377,516-8,383,250
(GRCh38/hg38)
Size:
5,735 bases
Orientation:
Minus strand
chr17:8,280,834-8,286,565
(GRCh37/hg19)
Size:
5,732 bases
Orientation:
Minus strand

Genomic View for RPL26 Gene

Genes around RPL26 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
RPL26 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for RPL26 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for RPL26 Gene

Proteins for RPL26 Gene

  • Protein details for RPL26 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P61254-RL26_HUMAN
    Recommended name:
    60S ribosomal protein L26
    Protein Accession:
    P61254
    Secondary Accessions:
    • B2R4F0
    • D3DTR8
    • Q02877
    • Q6IPY2

    Protein attributes for RPL26 Gene

    Size:
    145 amino acids
    Molecular mass:
    17258 Da
    Quaternary structure:
    • Component of the large ribosomal subunit (Probable). Interacts with DHX33 (PubMed:26100019).

    Three dimensional structures from OCA and Proteopedia for RPL26 Gene

neXtProt entry for RPL26 Gene

Post-translational modifications for RPL26 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for RPL26 Gene

Domains & Families for RPL26 Gene

Gene Families for RPL26 Gene

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

Suggested Antigen Peptide Sequences for RPL26 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

P61254

UniProtKB/Swiss-Prot:

RL26_HUMAN :
  • Belongs to the universal ribosomal protein uL24 family.
Family:
  • Belongs to the universal ribosomal protein uL24 family.
genes like me logo Genes that share domains with RPL26: view

Function for RPL26 Gene

Molecular function for RPL26 Gene

UniProtKB/Swiss-Prot Function:
Component of the large ribosomal subunit.
GENATLAS Biochemistry:
60S ribosomal protein L26

Phenotypes From GWAS Catalog for RPL26 Gene

Gene Ontology (GO) - Molecular Function for RPL26 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003723 RNA binding HDA,TAS 22681889
GO:0003735 structural constituent of ribosome IEA,NAS 12962325
GO:0005515 protein binding IPI 16213212
GO:0048027 mRNA 5-UTR binding IMP 16213212
genes like me logo Genes that share ontologies with RPL26: view
genes like me logo Genes that share phenotypes with RPL26: view

Human Phenotype Ontology for RPL26 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for RPL26

Clone Products

  • Addgene plasmids for RPL26

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targets and HOMER Transcription for RPL26 Gene

Localization for RPL26 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 RPL26 gene
Compartment Confidence
extracellular 5
nucleus 5
cytosol 5
mitochondrion 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (3)
  • Endoplasmic reticulum (3)
  • Nucleoli (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for RPL26 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005622 intracellular IEA --
GO:0005654 nucleoplasm IDA 16213212
GO:0005730 nucleolus IDA 16213212
GO:0005737 cytoplasm IDA 16213212
GO:0005829 cytosol TAS --
genes like me logo Genes that share ontologies with RPL26: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot for RPL26 Gene

Pathways & Interactions for RPL26 Gene

genes like me logo Genes that share pathways with RPL26: view

Pathways by source for RPL26 Gene

1 GeneGo (Thomson Reuters) pathway for RPL26 Gene
1 Cell Signaling Technology pathway for RPL26 Gene

Gene Ontology (GO) - Biological Process for RPL26 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000184 nuclear-transcribed mRNA catabolic process, nonsense-mediated decay TAS --
GO:0002181 cytoplasmic translation IBA --
GO:0006364 rRNA processing TAS --
GO:0006412 translation NAS,IEA 12962325
GO:0006413 translational initiation TAS --
genes like me logo Genes that share ontologies with RPL26: view

No data available for SIGNOR curated interactions for RPL26 Gene

Drugs & Compounds for RPL26 Gene

No Compound Related Data Available

Transcripts for RPL26 Gene

mRNA/cDNA for RPL26 Gene

Unigene Clusters for RPL26 Gene

Ribosomal protein L26:
Representative Sequences:

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for RPL26

Clone Products

  • Addgene plasmids for RPL26

Alternative Splicing Database (ASD) splice patterns (SP) for RPL26 Gene

ExUns: 1a · 1b · 1c ^ 2a · 2b · 2c ^ 3a · 3b · 3c ^ 4 ^ 5a · 5b · 5c ^ 6a · 6b · 6c
SP1: - - - - - - -
SP2: - - - - - -
SP3: - - - - -
SP4: - - - -
SP5: - - - - - -
SP6: - - -
SP7:
SP8: -

Relevant External Links for RPL26 Gene

GeneLoc Exon Structure for
RPL26
ECgene alternative splicing isoforms for
RPL26

Expression for RPL26 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for RPL26 Gene

Protein differential expression in normal tissues from HIPED for RPL26 Gene

This gene is overexpressed in Hair follicle (7.2) and Pancreas (6.8).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for RPL26 Gene



Protein tissue co-expression partners for RPL26 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of RPL26 Gene:

RPL26

SOURCE GeneReport for Unigene cluster for RPL26 Gene:

Hs.482144

Evidence on tissue expression from TISSUES for RPL26 Gene

  • Intestine(4.8)
  • Nervous system(4.7)
  • Lung(4.2)
  • Muscle(4.2)
  • Liver(4.1)
  • Kidney(4)
  • Eye(3.7)
  • Skin(3.6)
  • Pancreas(3.4)
  • Heart(3)
  • Spleen(3)
  • Stomach(3)
  • Bone(2.9)
  • Lymph node(2.7)
  • Bone marrow(2.6)
  • Adrenal gland(2.5)
  • Blood(2.5)
  • Thyroid gland(2.5)
  • Gall bladder(2.4)

Phenotype-based relationships between genes and organs from Gene ORGANizer for RPL26 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • endocrine
  • immune
  • integumentary
  • lymphatic
  • nervous
  • reproductive
  • respiratory
  • skeletal muscle
  • skeleton
  • urinary
Regions:
Head and neck:
  • brain
  • cheek
  • chin
  • cranial nerve
  • ear
  • eye
  • eyelid
  • face
  • head
  • inner ear
  • jaw
  • lip
  • mandible
  • maxilla
  • middle ear
  • mouth
  • neck
  • nose
  • outer ear
  • skull
Thorax:
  • aorta
  • chest wall
  • clavicle
  • heart
  • heart valve
  • lung
  • rib
  • rib cage
  • scapula
  • sternum
Abdomen:
  • intestine
  • kidney
  • large intestine
Pelvis:
  • pelvis
  • penis
  • ureter
  • urethra
  • urinary bladder
Limb:
  • ankle
  • arm
  • digit
  • elbow
  • femur
  • fibula
  • finger
  • foot
  • forearm
  • hand
  • hip
  • humerus
  • knee
  • lower limb
  • radius
  • shin
  • shoulder
  • thigh
  • tibia
  • toe
  • ulna
  • upper limb
  • wrist
General:
  • blood
  • blood vessel
  • bone marrow
  • coagulation system
  • peripheral nervous system
  • red blood cell
  • skin
  • spinal column
  • vertebrae
  • white blood cell
genes like me logo Genes that share expression patterns with RPL26: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt for RPL26 Gene

Orthologs for RPL26 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for RPL26 Gene

Organism Taxonomy Gene Similarity Type Details
oppossum
(Monodelphis domestica)
Mammalia RPL26 34
  • 100 (a)
OneToOne
dog
(Canis familiaris)
Mammalia RPL26 34
  • 100 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia RPL26 34 33
  • 99.54 (n)
OneToOne
cow
(Bos Taurus)
Mammalia -- 34
  • 99 (a)
ManyToMany
RPL26 33
  • 94.02 (n)
mouse
(Mus musculus)
Mammalia Rpl26 16 34 33
  • 87.82 (n)
rat
(Rattus norvegicus)
Mammalia Rpl26 33
  • 87.82 (n)
chicken
(Gallus gallus)
Aves RPL26 34
  • 100 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia RPL26 34
  • 100 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia rpl26 33
  • 82.53 (n)
zebrafish
(Danio rerio)
Actinopterygii rpl26 34 33
  • 80 (n)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta CG6846 35
  • 72 (a)
RpL26 34 33
  • 67.59 (n)
OneToMany
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP002468 33
  • 69.54 (n)
worm
(Caenorhabditis elegans)
Secernentea rpl-26 34 35 33
  • 60.19 (n)
OneToMany
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_ACL184C 33
  • 60.63 (n)
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0B05742g 33
  • 59.48 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes RPL26A 34 33
  • 58.33 (n)
ManyToMany
RPL26B 34
  • 52 (a)
ManyToMany
thale cress
(Arabidopsis thaliana)
eudicotyledons AT3G49910 33
  • 62.35 (n)
rice
(Oryza sativa)
Liliopsida Os12g0150100 33
  • 63.07 (n)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.11213 34 34
  • 74 (a)
ManyToMany
bread mold
(Neurospora crassa)
Ascomycetes NCU03565 33
  • 61.76 (n)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes rpl26 33
  • 59.29 (n)
Species where no ortholog for RPL26 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)
  • 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)
  • platypus (Ornithorhynchus anatinus)
  • rainbow trout (Oncorhynchus mykiss)
  • 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 RPL26 Gene

ENSEMBL:
Gene Tree for RPL26 (if available)
TreeFam:
Gene Tree for RPL26 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for RPL26: view image

Paralogs for RPL26 Gene

Paralogs for RPL26 Gene

(2) SIMAP similar genes for RPL26 Gene using alignment to 8 proteins:

  • RL26_HUMAN
  • J3KS10_HUMAN
  • J3KSS0_HUMAN
  • J3KTJ8_HUMAN
  • J3QQV1_HUMAN
  • J3QRC4_HUMAN
  • J3QRI7_HUMAN
  • Q6IBH6_HUMAN
genes like me logo Genes that share paralogs with RPL26: view

Variants for RPL26 Gene

Sequence variations from dbSNP and Humsavar for RPL26 Gene

SNP ID Clin Chr 17 pos Variation AA Info Type
rs397518451 pathogenic, Diamond-Blackfan anemia 11 8,382,190(-) TCT/T coding_sequence_variant, frameshift
rs755369380 benign, Diamond-Blackfan anemia 8,382,215(-) G/A coding_sequence_variant, synonymous_variant
rs878854147 uncertain-significance, Diamond-Blackfan anemia 8,379,846(-) G/A coding_sequence_variant, missense_variant
rs1000341371 -- 8,377,729(-) A/T intron_variant
rs1000390023 -- 8,383,203(-) C/G 5_prime_UTR_variant, genic_upstream_transcript_variant, upstream_transcript_variant

Structural Variations from Database of Genomic Variants (DGV) for RPL26 Gene

Variant ID Type Subtype PubMed ID
nsv960403 CNV duplication 23825009

Variation tolerance for RPL26 Gene

Residual Variation Intolerance Score: 54.1% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.22; 4.99% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for RPL26 Gene

Human Gene Mutation Database (HGMD)
RPL26
SNPedia medical, phenotypic, and genealogical associations of SNPs for
RPL26

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for RPL26 Gene

Disorders for RPL26 Gene

MalaCards: The human disease database

(5) MalaCards diseases for RPL26 Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
diamond-blackfan anemia 11
  • dba11
diamond-blackfan anemia
  • diamond-blackfan anemia 1
macrocytic anemia
  • anemia macrocytic
conjunctival cancer
  • conjunctival tumor
pierre robin syndrome
  • prbns
- elite association - COSMIC cancer census association via MalaCards
Search RPL26 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

RL26_HUMAN
  • Diamond-Blackfan anemia 11 (DBA11) [MIM:614900]: A form of Diamond-Blackfan anemia, a congenital non-regenerative hypoplastic anemia that usually presents early in infancy. Diamond-Blackfan anemia is characterized by a moderate to severe macrocytic anemia, erythroblastopenia, and an increased risk of malignancy. 30 to 40% of Diamond-Blackfan anemia patients present with short stature and congenital anomalies, the most frequent being craniofacial (Pierre-Robin syndrome and cleft palate), thumb and urogenital anomalies. {ECO:0000269 PubMed:22431104}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for RPL26

genes like me logo Genes that share disorders with RPL26: view

No data available for Genatlas for RPL26 Gene

Publications for RPL26 Gene

  1. Sequence of a cDNA encoding human ribosomal protein L26 and of a cDNA probably encoding human ribosomal protein L6. (PMID: 8479925) Zaman GJ (Nucleic acids research 1993) 2 3 4 58
  2. The DHX33 RNA Helicase Promotes mRNA Translation Initiation. (PMID: 26100019) Zhang Y … Weber J (Molecular and cellular biology 2015) 3 4 58
  3. Frameshift mutation in p53 regulator RPL26 is associated with multiple physical abnormalities and a specific pre-ribosomal RNA processing defect in diamond-blackfan anemia. (PMID: 22431104) Gazda HT … Beggs AH (Human mutation 2012) 3 4 58
  4. 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
  5. The human ribosomal protein genes: sequencing and comparative analysis of 73 genes. (PMID: 11875025) Yoshihama M … Kenmochi N (Genome research 2002) 3 4 58

Products for RPL26 Gene

Sources for RPL26 Gene