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Aliases for RBFA Gene

Aliases for RBFA Gene

  • Ribosome Binding Factor A 2 3 5
  • Ribosome Binding Factor A (Putative) 2 3
  • C18orf22 3 4
  • Putative Ribosome-Binding Factor A, Mitochondrial 3
  • Chromosome 18 Open Reading Frame 22 2
  • HsT169 3

External Ids for RBFA Gene

Previous HGNC Symbols for RBFA Gene

  • C18orf22

Previous GeneCards Identifiers for RBFA Gene

  • GC18P077795

Summaries for RBFA Gene

GeneCards Summary for RBFA Gene

RBFA (Ribosome Binding Factor A) is a Protein Coding gene.

Additional gene information for RBFA Gene

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

Genomics for RBFA Gene

GeneHancer (GH) Regulatory Elements for RBFA Gene

Promoters and enhancers for RBFA 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
GH18I080032 Promoter/Enhancer 2 EPDnew Ensembl ENCODE 562.2 0.0 -28 3.1 HDGF PKNOX1 ARID4B SIN3A FEZF1 DMAP1 ZNF2 YY1 ZNF213 ZNF207 TXNL4A RBFA ENSG00000267127 RBFADN CTDP1 ENSG00000267251 ADNP2 HSBP1L1 PQLC1
GH18I079067 Promoter/Enhancer 2.4 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 21 -965.1 -965095 3.1 HDGF PKNOX1 FOXA2 ARID4B SIN3A DMAP1 YY1 E2F8 ZNF207 ZNF143 ATP9B RBFA ENSG00000267655 NFATC1 ENSG00000279416
GH18I079397 Promoter/Enhancer 2.6 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 12.2 -631.8 -631826 9.7 HDGF PKNOX1 SMAD1 RB1 BATF IRF4 ZBTB40 GLIS2 ATF7 ETV6 NFATC1 ATP9B ADNP2 RBFA PARD6G CTDP1 ENSG00000267287 KCNG2 ENSG00000279637
GH18I079986 Promoter/Enhancer 2 EPDnew Ensembl ENCODE 11.5 -46.3 -46274 3.5 PKNOX1 ATF1 SMAD1 MLX ARID4B SIN3A DMAP1 ZNF48 ETS1 POLR2B TXNL4A RBFADN ENSG00000267251 CTDP1 RBFA HSBP1L1
GH18I079949 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE dbSUPER 10.4 -83.4 -83392 3.9 FOXA2 ATF1 RB1 ARID4B SIN3A ZBTB40 KLF5 BRCA1 ZNF48 ZNF335 PQLC1 RBFADN TXNL4A HSBP1L1 RBFA PIR48786 GC18M079920
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around RBFA on UCSC Golden Path with GeneCards custom track

Genomic Locations for RBFA Gene

Genomic Locations for RBFA Gene
chr18:80,034,346-80,050,652
(GRCh38/hg38)
Size:
16,307 bases
Orientation:
Plus strand
chr18:77,794,346-77,810,652
(GRCh37/hg19)

Genomic View for RBFA Gene

Genes around RBFA on UCSC Golden Path with GeneCards custom track

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

RefSeq DNA sequence for RBFA Gene

Proteins for RBFA Gene

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

    Protein Symbol:
    Q8N0V3-RBFA_HUMAN
    Recommended name:
    Putative ribosome-binding factor A, mitochondrial
    Protein Accession:
    Q8N0V3
    Secondary Accessions:
    • Q6PF07
    • Q8WZ65
    • Q9H776

    Protein attributes for RBFA Gene

    Size:
    343 amino acids
    Molecular mass:
    38359 Da
    Quaternary structure:
    No Data Available

    Three dimensional structures from OCA and Proteopedia for RBFA Gene

    Alternative splice isoforms for RBFA Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for RBFA Gene

Post-translational modifications for RBFA Gene

No Post-translational modifications

Other Protein References for RBFA Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for RBFA Gene

Domains & Families for RBFA Gene

Gene Families for RBFA Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for RBFA Gene

Suggested Antigen Peptide Sequences for RBFA Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q8N0V3

UniProtKB/Swiss-Prot:

RBFA_HUMAN :
  • Belongs to the RbfA family.
Family:
  • Belongs to the RbfA family.
genes like me logo Genes that share domains with RBFA: view

Function for RBFA Gene

Phenotypes From GWAS Catalog for RBFA Gene

Gene Ontology (GO) - Molecular Function for RBFA Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003674 molecular_function ND --
GO:0005515 protein binding IPI 25416956
genes like me logo Genes that share ontologies with RBFA: view
genes like me logo Genes that share phenotypes with RBFA: view

Animal Model Products

Inhibitory RNA Products

No data available for Molecular function , Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for RBFA Gene

Localization for RBFA Gene

Subcellular locations from UniProtKB/Swiss-Prot for RBFA Gene

Mitochondrion.

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 RBFA gene
Compartment Confidence
mitochondrion 4
nucleus 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for RBFA Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005575 cellular_component ND --
GO:0005739 mitochondrion IEA --
genes like me logo Genes that share ontologies with RBFA: view

Pathways & Interactions for RBFA Gene

No Data Available

Gene Ontology (GO) - Biological Process for RBFA Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006364 rRNA processing IEA --
GO:0008150 biological_process ND --
genes like me logo Genes that share ontologies with RBFA: view

No data available for Pathways by source and SIGNOR curated interactions for RBFA Gene

Drugs & Compounds for RBFA Gene

No Compound Related Data Available

Transcripts for RBFA Gene

Unigene Clusters for RBFA Gene

Ribosome binding factor A (putative):
Representative Sequences:

Inhibitory RNA Products

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

ExUns: 1a · 1b · 1c ^ 2 ^ 3a · 3b · 3c ^ 4 ^ 5 ^ 6 ^ 7a · 7b
SP1: -
SP2: - -
SP3: -
SP4:

Relevant External Links for RBFA Gene

GeneLoc Exon Structure for
RBFA
ECgene alternative splicing isoforms for
RBFA

Expression for RBFA Gene

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

Protein differential expression in normal tissues from HIPED for RBFA Gene

This gene is overexpressed in Pancreas (62.4).

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



Protein tissue co-expression partners for RBFA Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of RBFA Gene:

RBFA

SOURCE GeneReport for Unigene cluster for RBFA Gene:

Hs.728931

Evidence on tissue expression from TISSUES for RBFA Gene

  • Lung(4.4)
  • Kidney(2)
genes like me logo Genes that share expression patterns with RBFA: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for RBFA Gene

Orthologs for RBFA Gene

This gene was present in the common ancestor of animals.

Orthologs for RBFA Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia RBFA 33 34
  • 99.55 (n)
cow
(Bos Taurus)
Mammalia RBFA 33 34
  • 75.87 (n)
rat
(Rattus norvegicus)
Mammalia Rbfa 33
  • 72.35 (n)
mouse
(Mus musculus)
Mammalia Rbfa 33 16 34
  • 72.1 (n)
dog
(Canis familiaris)
Mammalia RBFA 33 34
  • 70.63 (n)
oppossum
(Monodelphis domestica)
Mammalia RBFA 34
  • 49 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia RBFA 34
  • 49 (a)
OneToOne
chicken
(Gallus gallus)
Aves RBFA 33 34
  • 55.95 (n)
lizard
(Anolis carolinensis)
Reptilia RBFA 34
  • 37 (a)
OneToOne
zebrafish
(Danio rerio)
Actinopterygii rbfa 33 34
  • 56.5 (n)
fruit fly
(Drosophila melanogaster)
Insecta CG15916 34
  • 24 (a)
OneToOne
Species where no ortholog for RBFA 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)
  • baker's yeast (Saccharomyces cerevisiae)
  • 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)
  • 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 (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)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for RBFA Gene

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

Paralogs for RBFA Gene

Pseudogenes.org Pseudogenes for RBFA Gene

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

No data available for Paralogs for RBFA Gene

Variants for RBFA Gene

Sequence variations from dbSNP and Humsavar for RBFA Gene

SNP ID Clin Chr 18 pos Variation AA Info Type
rs1000052986 -- 80,048,544(+) A/G 3_prime_UTR_variant
rs1000302398 -- 80,041,945(+) C/T intron_variant
rs1000309384 -- 80,037,342(+) T/C coding_sequence_variant, missense_variant
rs1000471081 -- 80,040,260(+) C/T intron_variant
rs1000919922 -- 80,036,871(+) C/A intron_variant

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

Variant ID Type Subtype PubMed ID
dgv3412n100 CNV gain 25217958
dgv3413n100 CNV gain 25217958
esv28269 CNV gain 19812545
esv3643326 CNV loss 21293372
esv3643328 CNV loss 21293372
nsv1061450 CNV gain 25217958
nsv1065902 CNV gain 25217958
nsv1072826 CNV deletion 25765185
nsv428359 CNV gain 18775914
nsv470437 CNV loss 18288195
nsv577958 CNV gain 21841781

Variation tolerance for RBFA Gene

Residual Variation Intolerance Score: 82.9% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 9.66; 89.18% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for RBFA Gene

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

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

Disorders for RBFA Gene

Additional Disease Information for RBFA

No disorders were found for RBFA Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for RBFA Gene

Publications for RBFA Gene

  1. The human RNA-binding protein RBFA promotes the maturation of the mitochondrial ribosome. (PMID: 28512204) Rozanska A … Lightowlers RN (The Biochemical journal 2017) 2 3 58
  2. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 58
  3. 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
  4. Architecture of the human interactome defines protein communities and disease networks. (PMID: 28514442) Huttlin EL … Harper JW (Nature 2017) 3 58
  5. The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin EL … Gygi SP (Cell 2015) 3 58

Products for RBFA Gene

Sources for RBFA Gene

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