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Aliases for RBFA Gene

Aliases for RBFA Gene

  • Ribosome Binding Factor A (Putative) 2 3 5
  • 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 (Putative)) is a Protein Coding 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

Regulatory Elements for RBFA Gene

Enhancers for RBFA Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH18G079959 1.8 FANTOM5 Ensembl ENCODE dbSUPER 12.1 -72.7 -72695 4.0 HDGF PKNOX1 FEZF1 DMAP1 CBX5 ZNF143 ZNF207 ZNF263 JUNB TBX21 HSBP1L1 RBFADN RBFA TXNL4A PQLC1
GH18G079067 1.6 FANTOM5 ENCODE dbSUPER 11.9 -965.1 -965141 3.0 HDGF HNRNPUL1 CREB3L1 ARID4B SIN3A DMAP1 YY1 ZNF143 ZNF207 FOS ATP9B RBFA ENSG00000267655 NFATC1 ENSG00000279416
GH18G080032 1.1 ENCODE 12.2 0.0 -29 3.1 HDGF PKNOX1 CREB3L1 ARID4B SIN3A FEZF1 DMAP1 ZNF2 YY1 ZNF143 RBFADN TXNL4A RBFA ENSG00000267251 ADNP2 HSBP1L1 PQLC1 ENSG00000267127
GH18G079950 1.2 ENCODE dbSUPER 10.4 -83.4 -83393 3.9 ATF1 WRNIP1 ARID4B SIN3A BRCA1 ZNF48 ZNF121 GLIS2 ZNF143 KLF7 RBFADN TXNL4A HSBP1L1 RBFA PQLC1 PIR48786 GC18M079920
GH18G079986 1 ENCODE 11.5 -46.3 -46274 3.5 PKNOX1 ATF1 MLX CREB3L1 WRNIP1 ARID4B SIN3A DMAP1 ZNF48 ETS1 TXNL4A RBFADN ENSG00000267251 RBFA HSBP1L1
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around RBFA on UCSC Golden Path with GeneCards custom track

Promoters for RBFA Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000105407 -246 2201 HDGF PKNOX1 CREB3L1 ARID4B SIN3A FEZF1 DMAP1 ZNF2 ZNF143 ZNF207

Genomic Location for RBFA Gene

Chromosome:
18
Start:
80,034,346 bp from pter
End:
80,050,652 bp from pter
Size:
16,307 bases
Orientation:
Plus strand

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

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

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

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

No data available for Gene Families for RBFA Gene

Function 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

CRISPR 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

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:

CRISPR Products

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 34 35
  • 99.55 (n)
cow
(Bos Taurus)
Mammalia RBFA 34 35
  • 75.87 (n)
rat
(Rattus norvegicus)
Mammalia Rbfa 34
  • 72.35 (n)
mouse
(Mus musculus)
Mammalia Rbfa 34 16 35
  • 72.1 (n)
dog
(Canis familiaris)
Mammalia RBFA 34 35
  • 70.63 (n)
oppossum
(Monodelphis domestica)
Mammalia RBFA 35
  • 49 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia RBFA 35
  • 49 (a)
OneToOne
chicken
(Gallus gallus)
Aves RBFA 34 35
  • 55.95 (n)
lizard
(Anolis carolinensis)
Reptilia RBFA 35
  • 37 (a)
OneToOne
zebrafish
(Danio rerio)
Actinopterygii rbfa 34 35
  • 56.5 (n)
fruit fly
(Drosophila melanogaster)
Insecta CG15916 35
  • 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 Sequence Context AA Info Type
rs1000052986 -- 80,048,544(+) GAGCC(A/G)TGAGG utr-variant-3-prime
rs1000302398 -- 80,041,945(+) ATGGT(C/T)TCGAT intron-variant
rs1000309384 -- 80,037,342(+) AACCA(C/T)CCAAG reference, missense
rs1000471081 -- 80,040,260(+) TTTTG(C/T)TTTTT intron-variant
rs1000919922 -- 80,036,871(+) CTTTT(A/C)AAAAA 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)

Relevant External Links 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

Relevant External Links for RBFA

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
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. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4 64
  2. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 3 4 64
  3. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PMID: 12477932) Strausberg R.L. … Marra M.A. (Proc. Natl. Acad. Sci. U.S.A. 2002) 2 3 64
  4. The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin E.L. … Gygi S.P. (Cell 2015) 3 64
  5. N-terminome analysis of the human mitochondrial proteome. (PMID: 25944712) Vaca Jacome A.S. … Carapito C. (Proteomics 2015) 4 64

Products for RBFA Gene

Sources for RBFA Gene

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