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Aliases for RPS7 Gene

Aliases for RPS7 Gene

  • Ribosomal Protein S7 2 3 5
  • Small Ribosomal Subunit Protein ES7 3 4
  • 40S Ribosomal Protein S7 3
  • DBA8 3
  • S7 3

External Ids for RPS7 Gene

Previous GeneCards Identifiers for RPS7 Gene

  • GC02P003100
  • GC02P003265
  • GC02P003187
  • GC02P003116
  • GC02P003600
  • GC02P003622
  • GC02P003564

Summaries for RPS7 Gene

Entrez Gene Summary for RPS7 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. The protein belongs to the S7E 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 RPS7 Gene

RPS7 (Ribosomal Protein S7) is a Protein Coding gene. Diseases associated with RPS7 include Diamond-Blackfan Anemia 8 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.

UniProtKB/Swiss-Prot for RPS7 Gene

  • Required for rRNA maturation.

Gene Wiki entry for RPS7 Gene

Additional gene information for RPS7 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for RPS7 Gene

Genomics for RPS7 Gene

GeneHancer (GH) Regulatory Elements for RPS7 Gene

Promoters and enhancers for RPS7 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
GH02I003574 Promoter/Enhancer 2.4 EPDnew Ensembl ENCODE 611 +1.1 1147 3.6 CLOCK MLX ZFP64 FEZF1 DMAP1 IRF4 YY1 SLC30A9 ZNF213 E2F8 RPS7 TRAPPC12 RNASEH1 COLEC11 RNASEH1-AS1
GH02I003602 Promoter/Enhancer 1.8 EPDnew Ensembl ENCODE dbSUPER 25.9 +29.4 29407 3.5 MLX ARID4B SIN3A DMAP1 YY1 FOS SP3 SP5 MXD4 REST COLEC11 ENSG00000237370 RPS7 RNASEH1 GC02P003608
GH02I003534 Promoter/Enhancer 1.7 FANTOM5 Ensembl ENCODE 12.5 -39.0 -39000 3.1 ATF1 FOXA2 ARNT ARID4B SIN3A DMAP1 ZNF48 ETS1 YY1 CBX5 ENSG00000242282 RNASEH1-AS1 COLEC11 RNASEH1 RPS7 ENSG00000255767 ADI1
GH02I003461 Enhancer 1.1 Ensembl ENCODE dbSUPER 10.1 -113.0 -113024 1.6 HDGF CTCF PKNOX1 EBF1 CEBPG RAD21 NFATC1 SMC3 ZNF143 ATF7 ADI1 ENSG00000235078 COLEC11 ENSG00000237370 RPS7 TRAPPC12-AS1 TRAPPC12 GC02P003451 PIR36101
GH02I003557 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 5.2 -16.6 -16605 3.1 HDGF PKNOX1 MLX ZFP64 ARID4B SIN3A DMAP1 YY1 SLC30A9 POLR2B RNASEH1-AS1 RNASEH1 COLEC11 RPS7
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around RPS7 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the RPS7 gene promoter:

Genomic Locations for RPS7 Gene

Genomic Locations for RPS7 Gene
chr2:3,575,205-3,580,919
(GRCh38/hg38)
Size:
5,715 bases
Orientation:
Plus strand
chr2:3,622,795-3,628,509
(GRCh37/hg19)

Genomic View for RPS7 Gene

Genes around RPS7 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
RPS7 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for RPS7 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for RPS7 Gene

Proteins for RPS7 Gene

  • Protein details for RPS7 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P62081-RS7_HUMAN
    Recommended name:
    40S ribosomal protein S7
    Protein Accession:
    P62081
    Secondary Accessions:
    • P23821
    • P24818
    • Q57Z92
    • Q6IPH1

    Protein attributes for RPS7 Gene

    Size:
    194 amino acids
    Molecular mass:
    22127 Da
    Quaternary structure:
    • Binds IPO9 with high affinity. Interacts with NEK6.

    Three dimensional structures from OCA and Proteopedia for RPS7 Gene

neXtProt entry for RPS7 Gene

Post-translational modifications for RPS7 Gene

  • Phosphorylated by NEK6.
  • Ubiquitination at posLast=1515, isoforms=49, isoforms=74, posLast=8585, posLast=9090, posLast=142142, isoforms=179, and posLast=183183
  • Modification sites at PhosphoSitePlus

Other Protein References for RPS7 Gene

No data available for DME Specific Peptides for RPS7 Gene

Domains & Families for RPS7 Gene

Gene Families for RPS7 Gene

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

Protein Domains for RPS7 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for RPS7 Gene

Graphical View of Domain Structure for InterPro Entry

P62081

UniProtKB/Swiss-Prot:

RS7_HUMAN :
  • Belongs to the eukaryotic ribosomal protein eS7 family.
Family:
  • Belongs to the eukaryotic ribosomal protein eS7 family.
genes like me logo Genes that share domains with RPS7: view

Function for RPS7 Gene

Molecular function for RPS7 Gene

GENATLAS Biochemistry:
40S ribosomal protein S7,22kDa
UniProtKB/Swiss-Prot Function:
Required for rRNA maturation.

Gene Ontology (GO) - Molecular Function for RPS7 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003723 RNA binding NAS 8522193
GO:0003730 mRNA 3-UTR binding IDA 16213212
GO:0003735 structural constituent of ribosome IEA --
GO:0005515 protein binding IPI 9687515
GO:0019901 protein kinase binding IPI 20873783
genes like me logo Genes that share ontologies with RPS7: view
genes like me logo Genes that share phenotypes with RPS7: view

Human Phenotype Ontology for RPS7 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

Inhibitory RNA Products

Clone Products

No data available for Enzyme Numbers (IUBMB) , Phenotypes From GWAS Catalog , Animal Models , Transcription Factor Targets and HOMER Transcription for RPS7 Gene

Localization for RPS7 Gene

Subcellular locations from UniProtKB/Swiss-Prot for RPS7 Gene

Cytoplasm, cytoskeleton, microtubule organizing center, centrosome. Note=Colocalizes with NEK6 in the centrosome.

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 RPS7 gene
Compartment Confidence
extracellular 5
nucleus 5
cytosol 5
cytoskeleton 3
mitochondrion 1

Subcellular locations from the

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

Gene Ontology (GO) - Cellular Components for RPS7 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005622 intracellular IEA --
GO:0005634 nucleus IDA 9687515
GO:0005654 nucleoplasm TAS --
GO:0005730 nucleolus IDA 11823430
GO:0005737 cytoplasm IEA --
genes like me logo Genes that share ontologies with RPS7: view

Pathways & Interactions for RPS7 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 rRNA processing in the nucleus and cytosol
4 Influenza Viral RNA Transcription and Replication
5 HIV Life Cycle
.45
genes like me logo Genes that share pathways with RPS7: view

Gene Ontology (GO) - Biological Process for RPS7 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000184 nuclear-transcribed mRNA catabolic process, nonsense-mediated decay TAS --
GO:0001843 neural tube closure IEA --
GO:0002181 cytoplasmic translation IBA --
GO:0006364 rRNA processing TAS --
GO:0006412 translation NAS,IEA 8522193
genes like me logo Genes that share ontologies with RPS7: view

No data available for SIGNOR curated interactions for RPS7 Gene

Drugs & Compounds for RPS7 Gene

No Compound Related Data Available

Transcripts for RPS7 Gene

Unigene Clusters for RPS7 Gene

Ribosomal protein S7:
Representative Sequences:

Inhibitory RNA Products

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for RPS7 Gene

No ASD Table

Relevant External Links for RPS7 Gene

GeneLoc Exon Structure for
RPS7
ECgene alternative splicing isoforms for
RPS7

Expression for RPS7 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for RPS7 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for RPS7 Gene



Protein tissue co-expression partners for RPS7 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of RPS7 Gene:

RPS7

SOURCE GeneReport for Unigene cluster for RPS7 Gene:

Hs.534346

Evidence on tissue expression from TISSUES for RPS7 Gene

  • Lung(4.9)
  • Nervous system(4.9)
  • Liver(4.8)
  • Pancreas(4.6)
  • Spleen(4.5)
  • Eye(4.2)
  • Intestine(4)
  • Skin(4)
  • Blood(3.6)
  • Kidney(3.4)
  • Heart(3.3)
  • Muscle(2.9)
  • Stomach(2.9)
  • Bone(2.4)
  • Lymph node(2)
  • Thyroid gland(2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for RPS7 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 RPS7: view

No data available for mRNA differential expression in normal tissues , Protein differential expression in normal tissues and mRNA Expression by UniProt/SwissProt for RPS7 Gene

Orthologs for RPS7 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for RPS7 Gene

Organism Taxonomy Gene Similarity Type Details
oppossum
(Monodelphis domestica)
Mammalia RPS7 34
  • 100 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia RPS7 33 34
  • 99.83 (n)
mouse
(Mus musculus)
Mammalia Gm6472 34
  • 99 (a)
OneToMany
Gm9493 34
  • 98 (a)
OneToMany
Rps7 33 16 34
  • 90.38 (n)
Gm21957 34
  • 77 (a)
OneToMany
dog
(Canis familiaris)
Mammalia RPS7 33 34
  • 90.38 (n)
rat
(Rattus norvegicus)
Mammalia Rps7 33
  • 89.52 (n)
cow
(Bos Taurus)
Mammalia RPS7 33 34
  • 88.83 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia RPS7 34
  • 84 (a)
OneToOne
chicken
(Gallus gallus)
Aves RPS7 33 34
  • 84.71 (n)
lizard
(Anolis carolinensis)
Reptilia RPS7 34
  • 99 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia rps7 33
  • 83.16 (n)
Str.17080 33
zebrafish
(Danio rerio)
Actinopterygii rps7 33 34
  • 81.79 (n)
zgc73216 33
fruit fly
(Drosophila melanogaster)
Insecta CG1883 35
  • 73 (a)
RpS7 33 34
  • 66.67 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta RS7_ANOGA 33
  • 65.96 (n)
worm
(Caenorhabditis elegans)
Secernentea rps-7 35 33 34
  • 61.44 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes RPS7B 33 34
  • 57.12 (n)
RPS7A 34 36
  • 55 (a)
OneToMany
thale cress
(Arabidopsis thaliana)
eudicotyledons AT1G48830 33
  • 58.78 (n)
soybean
(Glycine max)
eudicotyledons Gma.17859 33
rice
(Oryza sativa)
Liliopsida Os03g0297100 33
  • 60.04 (n)
corn
(Zea mays)
Liliopsida Zm.16958 33
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 79 (a)
OneToOne
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.6668 33
Species where no ortholog for RPS7 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • 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)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • 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)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for RPS7 Gene

ENSEMBL:
Gene Tree for RPS7 (if available)
TreeFam:
Gene Tree for RPS7 (if available)

Paralogs for RPS7 Gene

No data available for Paralogs for RPS7 Gene

Variants for RPS7 Gene

Sequence variations from dbSNP and Humsavar for RPS7 Gene

SNP ID Clin Chr 02 pos Variation AA Info Type
rs1057519624 pathogenic, Diamond-Blackfan anemia 8 3,575,816(+) G/T splice_acceptor_variant
rs11558965 benign, Diamond-Blackfan anemia 3,575,322(+) G/C/T 5_prime_UTR_variant
rs140914434 benign, Diamond-Blackfan anemia 8 3,580,104(+) TTTT/TTT/TTTTT intron_variant
rs142444366 likely-benign, Diamond-Blackfan anemia 3,575,260(+) C/G/T upstream_transcript_variant
rs17552296 likely-benign, Diamond-Blackfan anemia 3,575,333(+) A/C 5_prime_UTR_variant

Structural Variations from Database of Genomic Variants (DGV) for RPS7 Gene

Variant ID Type Subtype PubMed ID
dgv3702n100 CNV gain 25217958
nsv1011656 CNV gain 25217958
nsv580822 CNV gain 21841781
nsv963206 CNV duplication 23825009
nsv978973 CNV duplication 23825009
nsv978974 CNV duplication 23825009

Variation tolerance for RPS7 Gene

Residual Variation Intolerance Score: 43.7% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.98; 20.23% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for RPS7 Gene

Human Gene Mutation Database (HGMD)
RPS7
SNPedia medical, phenotypic, and genealogical associations of SNPs for
RPS7

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for RPS7 Gene

Disorders for RPS7 Gene

MalaCards: The human disease database

(3) MalaCards diseases for RPS7 Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
diamond-blackfan anemia 8
  • dba8
diamond-blackfan anemia
  • blackfan - diamond syndrome
pierre robin syndrome
  • prbns
- elite association - COSMIC cancer census association via MalaCards
Search RPS7 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

RS7_HUMAN
  • Diamond-Blackfan anemia 8 (DBA8) [MIM:612563]: 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:19061985}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for RPS7

genes like me logo Genes that share disorders with RPS7: view

No data available for Genatlas for RPS7 Gene

Publications for RPS7 Gene

  1. The human ribosomal protein S7-encoding gene: isolation, structure and localization in 2p25. (PMID: 8522193) Annilo T … Metspalu A (Gene 1995) 2 3 4 58
  2. Characterization of hNek6 interactome reveals an important role for its short N-terminal domain and colocalization with proteins at the centrosome. (PMID: 20873783) Vaz Meirelles G … Kobarg J (Journal of proteome research 2010) 3 4 58
  3. Ribosomal protein S7 is both a regulator and a substrate of MDM2. (PMID: 19683495) Zhu Y … Prives C (Molecular cell 2009) 3 22 58
  4. Ribosomal protein L5 and L11 mutations are associated with cleft palate and abnormal thumbs in Diamond-Blackfan anemia patients. (PMID: 19061985) Gazda HT … Beggs AH (American journal of human genetics 2008) 3 4 58
  5. Ribosomal protein S7 as a novel modulator of p53-MDM2 interaction: binding to MDM2, stabilization of p53 protein, and activation of p53 function. (PMID: 17310983) Chen D … Zhang R (Oncogene 2007) 3 22 58

Products for RPS7 Gene

Sources for RPS7 Gene

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