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Aliases for RPS29 Gene

Aliases for RPS29 Gene

  • Ribosomal Protein S29 2 3 5
  • Small Ribosomal Subunit Protein US14 3 4
  • 40S Ribosomal Protein S29 3
  • DBA13 3
  • S29 3

External Ids for RPS29 Gene

Previous GeneCards Identifiers for RPS29 Gene

  • GC14M047365
  • GC14M043840
  • GC14M048034
  • GC14M048040
  • GC14M049114
  • GC14M049120
  • GC14M049119
  • GC14M050043
  • GC14M030161

Summaries for RPS29 Gene

Entrez Gene Summary for RPS29 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 40S subunit and a member of the S14P family of ribosomal proteins. The protein, which contains a C2-C2 zinc finger-like domain that can bind to zinc, can enhance the tumor suppressor activity of Ras-related protein 1A (KREV1). It is located in the cytoplasm. Variable expression of this gene in colorectal cancers compared to adjacent normal tissues has been observed, although no correlation between the level of expression and the severity of the disease has been found. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through the genome. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2013]

GeneCards Summary for RPS29 Gene

RPS29 (Ribosomal Protein S29) is a Protein Coding gene. Diseases associated with RPS29 include Diamond-Blackfan Anemia 13 and Diamond-Blackfan Anemia. Among its related pathways are Viral mRNA Translation and Activation of the mRNA upon binding of the cap-binding complex and eIFs, and subsequent binding to 43S. Gene Ontology (GO) annotations related to this gene include structural constituent of ribosome.

Gene Wiki entry for RPS29 Gene

Additional gene information for RPS29 Gene

No data available for CIViC summary , UniProtKB/Swiss-Prot , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for RPS29 Gene

Genomics for RPS29 Gene

GeneHancer (GH) Regulatory Elements for RPS29 Gene

Promoters and enhancers for RPS29 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
GH14I049594 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE 550.8 +1.6 1644 7.8 HDGF PKNOX1 CLOCK FOXA2 MLX ARNT ARID4B NEUROD1 SIN3A FEZF1 LRR1 RPS29 RPL36AL VCPKMT RHOQP1 MGAT2 POLE2 ENSG00000278009 ENSG00000252919
GH14I049583 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 550.4 +13.4 13357 4 HDGF CLOCK SMAD1 ARID4B SIN3A DMAP1 ZNF2 ZBTB7B IRF4 YY1 ENSG00000283029 GC14M049586 GC14M049587 GC14P049610 PIR42644 RN7SL1 RPS29 RPL36AL LRR1 KLHDC1
GH14I049618 Promoter/Enhancer 2.5 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 2.3 -23.0 -23021 6.4 HDGF PKNOX1 SMAD1 ARID4B SIN3A DMAP1 ZNF2 YY1 POLR2B ZNF207 RPL36AL MGAT2 ENSG00000258377 LRR1 DNAAF2 RNU6ATAC30P VCPKMT RHOQP1 KLHDC2 NEMF
GH14I049969 Enhancer 1.7 FANTOM5 Ensembl ENCODE dbSUPER 1.6 -377.6 -377640 15.5 PKNOX1 FOXA2 ARNT ARID4B FEZF1 ZNF2 YY1 ZNF766 ZNF207 FOS VCPKMT LINC01588 RNU6-189P RPL36AL ARF6 NEMF DNAAF2 ATP5S RPS29 SOS2
GH14I049997 Enhancer 1.8 FANTOM5 Ensembl ENCODE dbSUPER 1.3 -404.4 -404421 12.7 HDGF PKNOX1 FOXA2 SMAD1 ARID4B NEUROD1 SIN3A FEZF1 DMAP1 ZBTB7B GC14M050001 VCPKMT LINC01588 RNU6-189P ARF6 RPL36AL ATP5S L2HGDH RPS29 PDLIM1P1
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around RPS29 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the RPS29 gene promoter:

Genomic Locations for RPS29 Gene

Genomic Locations for RPS29 Gene
chr14:49,570,984-49,599,164
(GRCh38/hg38)
Size:
28,181 bases
Orientation:
Minus strand
chr14:50,043,390-50,065,408
(GRCh37/hg19)

Genomic View for RPS29 Gene

Genes around RPS29 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
RPS29 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for RPS29 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for RPS29 Gene

Proteins for RPS29 Gene

  • Protein details for RPS29 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P62273-RS29_HUMAN
    Recommended name:
    40S ribosomal protein S29
    Protein Accession:
    P62273
    Secondary Accessions:
    • A8MZ73
    • P30054

    Protein attributes for RPS29 Gene

    Size:
    56 amino acids
    Molecular mass:
    6677 Da
    Cofactor:
    Name=Zn(2+); Xref=ChEBI:CHEBI:29105;
    Quaternary structure:
    No Data Available

    Three dimensional structures from OCA and Proteopedia for RPS29 Gene

    Alternative splice isoforms for RPS29 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for RPS29 Gene

Post-translational modifications for RPS29 Gene

  • Ubiquitination at posLast=3333 and posLast=4848
  • Modification sites at PhosphoSitePlus

Other Protein References for RPS29 Gene

No data available for DME Specific Peptides for RPS29 Gene

Domains & Families for RPS29 Gene

Gene Families for RPS29 Gene

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

Protein Domains for RPS29 Gene

Suggested Antigen Peptide Sequences for RPS29 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

P62273

UniProtKB/Swiss-Prot:

RS29_HUMAN :
  • Belongs to the universal ribosomal protein uS14 family.
Family:
  • Belongs to the universal ribosomal protein uS14 family.
genes like me logo Genes that share domains with RPS29: view

Function for RPS29 Gene

Molecular function for RPS29 Gene

GENATLAS Biochemistry:
40S ribosomal protein S29

Phenotypes From GWAS Catalog for RPS29 Gene

Gene Ontology (GO) - Molecular Function for RPS29 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003735 structural constituent of ribosome HDA,IEA 15883184
GO:0008270 zinc ion binding IDA 8781548
GO:0046872 metal ion binding IEA --
genes like me logo Genes that share ontologies with RPS29: view
genes like me logo Genes that share phenotypes with RPS29: view

Human Phenotype Ontology for RPS29 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

miRNA for RPS29 Gene

Inhibitory RNA Products

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targets and HOMER Transcription for RPS29 Gene

Localization for RPS29 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 RPS29 gene
Compartment Confidence
extracellular 5
cytosol 5
nucleus 4
plasma membrane 1
mitochondrion 1

Subcellular locations from the

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

Gene Ontology (GO) - Cellular Components for RPS29 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005622 intracellular IEA --
GO:0005654 nucleoplasm TAS --
GO:0005829 cytosol TAS --
GO:0005840 ribosome IEA --
GO:0005925 focal adhesion HDA,IDA 21423176
genes like me logo Genes that share ontologies with RPS29: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot for RPS29 Gene

Pathways & Interactions for RPS29 Gene

SuperPathways for RPS29 Gene

SuperPathway Contained pathways
1 Viral mRNA Translation
.55
2 Activation of the mRNA upon binding of the cap-binding complex and eIFs, and subsequent binding to 43S
3 Influenza Viral RNA Transcription and Replication
4 rRNA processing in the nucleus and cytosol
5 HIV Life Cycle
.45
genes like me logo Genes that share pathways with RPS29: view

Gene Ontology (GO) - Biological Process for RPS29 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 IC,IEA 8706699
GO:0006413 translational initiation TAS --
GO:0006614 SRP-dependent cotranslational protein targeting to membrane TAS --
genes like me logo Genes that share ontologies with RPS29: view

No data available for SIGNOR curated interactions for RPS29 Gene

Drugs & Compounds for RPS29 Gene

No Compound Related Data Available

Transcripts for RPS29 Gene

Unigene Clusters for RPS29 Gene

Ribosomal protein S29:
Representative Sequences:

Inhibitory RNA Products

Alternative Splicing Database (ASD) splice patterns (SP) for RPS29 Gene

No ASD Table

Relevant External Links for RPS29 Gene

GeneLoc Exon Structure for
RPS29
ECgene alternative splicing isoforms for
RPS29

Expression for RPS29 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for RPS29 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for RPS29 Gene

This gene is overexpressed in Tlymphocyte (9.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for RPS29 Gene



Protein tissue co-expression partners for RPS29 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of RPS29 Gene:

RPS29

SOURCE GeneReport for Unigene cluster for RPS29 Gene:

Hs.156367

Evidence on tissue expression from TISSUES for RPS29 Gene

  • Blood(4.6)
  • Intestine(4.6)
  • Bone marrow(4.5)
  • Eye(4.5)
  • Nervous system(4.3)
  • Liver(4.2)
  • Spleen(3)
  • Heart(2.9)
  • Muscle(2.9)
  • Lymph node(2.8)
  • Lung(2.7)
  • Skin(2.6)
  • Adrenal gland(2.5)
  • Gall bladder(2.5)
  • Pancreas(2.5)
  • Stomach(2.5)
  • Thyroid gland(2.5)
  • Kidney(2.4)

Phenotype-based relationships between genes and organs from Gene ORGANizer for RPS29 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 RPS29: view

No data available for mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt for RPS29 Gene

Orthologs for RPS29 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for RPS29 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia RPS29 33 34
  • 98.99 (n)
oppossum
(Monodelphis domestica)
Mammalia RPS29 34
  • 96 (a)
OneToOne
cow
(Bos Taurus)
Mammalia RPS29 33 34
  • 91.07 (n)
dog
(Canis familiaris)
Mammalia RPS29 33
  • 89.29 (n)
rat
(Rattus norvegicus)
Mammalia Rps29 33
  • 86.9 (n)
mouse
(Mus musculus)
Mammalia Rps29 33 16 34
  • 85.71 (n)
Gm10126 34
  • 85 (a)
OneToMany
chicken
(Gallus gallus)
Aves RPS29 33 34
  • 80.95 (n)
tropical clawed frog
(Silurana tropicalis)
Amphibia rps29 33
  • 80.95 (n)
zebrafish
(Danio rerio)
Actinopterygii rps29 34
  • 93 (a)
OneToOne
wufa11f02 33
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.8386 33
fruit fly
(Drosophila melanogaster)
Insecta RpS29 34
  • 75 (a)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea rps-29 34
  • 71 (a)
OneToOne
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes RPS29A 34 36
  • 64 (a)
OneToMany
RPS29B 34
  • 63 (a)
OneToMany
wheat
(Triticum aestivum)
Liliopsida Ta.17501 33
Species where no ortholog for RPS29 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • lizard (Anolis carolinensis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)

Evolution for RPS29 Gene

ENSEMBL:
Gene Tree for RPS29 (if available)
TreeFam:
Gene Tree for RPS29 (if available)

Paralogs for RPS29 Gene

No data available for Paralogs for RPS29 Gene

Variants for RPS29 Gene

Sequence variations from dbSNP and Humsavar for RPS29 Gene

SNP ID Clin Chr 14 pos Variation AA Info Type
rs587777568 pathogenic, Diamond-Blackfan anemia 13, Diamond-Blackfan anemia 13 (DBA13) [MIM:615909] 49,586,021(-) T/A coding_sequence_variant, missense_variant
rs587777569 pathogenic, Diamond-Blackfan anemia 13, Diamond-Blackfan anemia 13 (DBA13) [MIM:615909] 49,585,963(-) A/G coding_sequence_variant, missense_variant
rs1064795244 likely-pathogenic, not provided 49,586,039(-) A/G coding_sequence_variant, missense_variant
rs1000019179 -- 49,585,426(-) T/C intron_variant
rs1000047799 -- 49,586,174(-) A/T intron_variant

Structural Variations from Database of Genomic Variants (DGV) for RPS29 Gene

Variant ID Type Subtype PubMed ID
esv28926 CNV gain+loss 19812545
nsv1122899 CNV deletion 24896259
nsv977464 CNV duplication 23825009

Variation tolerance for RPS29 Gene

Residual Variation Intolerance Score: 50.2% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.06; 1.26% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for RPS29 Gene

Human Gene Mutation Database (HGMD)
RPS29
SNPedia medical, phenotypic, and genealogical associations of SNPs for
RPS29

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for RPS29 Gene

Disorders for RPS29 Gene

MalaCards: The human disease database

(5) MalaCards diseases for RPS29 Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, Swiss-Prot, DISEASES, and GeneCards

- elite association - COSMIC cancer census association via MalaCards
Search RPS29 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

RS29_HUMAN
  • Diamond-Blackfan anemia 13 (DBA13) [MIM:615909]: 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:24829207}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for RPS29

genes like me logo Genes that share disorders with RPS29: view

No data available for Genatlas for RPS29 Gene

Publications for RPS29 Gene

  1. The S29 ribosomal protein increases tumor suppressor activity of K rev-1 gene on v-K ras-transformed NIH3T3 cells. (PMID: 8781548) Kondoh N … Oikawa T (Biochimica et biophysica acta 1996) 2 3 4 22 58
  2. 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 58
  3. Whole-exome sequencing and functional studies identify RPS29 as a novel gene mutated in multicase Diamond-Blackfan anemia families. (PMID: 24829207) Mirabello L … Savage SA (Blood 2014) 3 4 58
  4. Structures of the human and Drosophila 80S ribosome. (PMID: 23636399) Anger AM … Beckmann R (Nature 2013) 3 4 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 RPS29 Gene

Sources for RPS29 Gene

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