Aliases for RBFA Gene

Aliases for RBFA Gene

  • Ribosome Binding Factor A 2 3 5
  • Putative Ribosome-Binding Factor A, Mitochondrial 3 4
  • Ribosome Binding Factor A (Putative) 2 3
  • C18orf22 3 4
  • HsT169 2 3
  • Chromosome 18 Open Reading Frame 22 2
  • FLJ21172 2
  • RBFA 5

External Ids for RBFA Gene

Previous HGNC Symbols for RBFA Gene

  • C18orf22

Previous GeneCards Identifiers for RBFA Gene

  • GC18P077795
  • GC18P080035

Summaries for RBFA Gene

GeneCards Summary for RBFA Gene

RBFA (Ribosome Binding Factor A) is a Protein Coding gene. Diseases associated with RBFA include Autosomal Dominant Non-Syndromic Intellectual Disability 1 and Autosomal Dominant Non-Syndromic Intellectual Disability.

No data available for Entrez Gene Summary , CIViC Summary , UniProtKB/Swiss-Prot Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for RBFA Gene

Genomics for RBFA Gene

GeneHancer (GH) Regulatory Elements Pubs

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
GH18J080032 Promoter/Enhancer 2 EPDnew Ensembl ENCODE CraniofacialAtlas 262.1 +0.0 12 4 TBP ZBTB10 SP1 MXD4 FEZF1 MNT IKZF1 SMAD5 HES1 POLR2A RBFADN TXNL4A RBFA ENSG00000267127 HSALNG0122811 lnc-PQLC1-1 ENSG00000267251 ADNP2 HSBP1L1 SLC66A2
GH18J080044 Promoter 0.6 EPDnew 250.4 +9.9 9879 0.1 FOXA2 KDM1A ARID3A RBFA ADNP2 HSBP1L1 SLC66A2 ENSG00000267127 HSALNG0122811 HSALNG0122813 RBFADN
GH18J080037 Promoter 0.4 EPDnew 250.7 +3.0 2985 0.1 REST RBFA ADNP2 HSBP1L1 SLC66A2 ENSG00000267127 HSALNG0122811 RBFADN HSALNG0122813
GH18J080038 Promoter 0.3 EPDnew 250.7 +4.2 4211 0.1 RBFA ADNP2 HSBP1L1 SLC66A2 ENSG00000267127 HSALNG0122811 RBFADN HSALNG0122813
GH18J080042 Promoter 0.3 EPDnew 250.4 +7.7 7704 0.1 RBFA HSBP1L1 SLC66A2 ENSG00000267127 HSALNG0122811 HSALNG0122813 RBFADN ADNP2
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around RBFA on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for RBFA

Genomic Locations for RBFA Gene

Latest Assembly
chr18:80,034,389-80,050,651
(GRCh38/hg38)
Size:
16,263 bases
Orientation:
Plus strand

Previous Assembly
chr18:77,794,434-77,810,651
(GRCh37/hg19 by Entrez Gene)
Size:
16,218 bases
Orientation:
Plus strand

chr18:77,794,358-77,806,397
(GRCh37/hg19 by Ensembl)
Size:
12,040 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

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

InterPro:
Blocks:
  • Ribosome-binding factor A
ProtoNet:

Suggested Antigen Peptide Sequences for RBFA Gene

GenScript: Design optimal peptide antigens:
  • Putative ribosome-binding factor A, mitochondrial (RBFA_HUMAN)

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

Inhibitory RNAs for research

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

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
cytosol 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

PathCards logo

SuperPathways 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

mRNA/cDNA for RBFA Gene

2 REFSEQ mRNAs :
8 NCBI additional mRNA sequence :
5 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

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

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

Expression for RBFA Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and 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, MaxQB, and MOPED for RBFA Gene



Protein tissue co-expression partners for RBFA Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for RBFA

SOURCE GeneReport for Unigene cluster for RBFA Gene:

Hs.728931

Evidence on tissue expression from TISSUES for RBFA Gene

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

Primer products for research

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 30 31
  • 99.55 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia RBFA 30 31
  • 75.87 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Rbfa 30
  • 72.35 (n)
Mouse
(Mus musculus)
Mammalia Rbfa 30 17 31
  • 72.1 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia RBFA 30 31
  • 70.63 (n)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia RBFA 31
  • 49 (a)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia RBFA 31
  • 49 (a)
OneToOne
Chicken
(Gallus gallus)
Aves RBFA 30 31
  • 55.95 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia RBFA 31
  • 37 (a)
OneToOne
Zebrafish
(Danio rerio)
Actinopterygii rbfa 30 31
  • 56.5 (n)
OneToOne
Fruit Fly
(Drosophila melanogaster)
Insecta CG15916 31
  • 24 (a)
OneToOne
Species where no ortholog for RBFA was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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 Vase (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)
Aminode:
Evolutionary constrained regions (ECRs) for RBFA: view image

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, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for RBFA Gene

SNP ID Clinical significance and condition Chr 18 pos Variation AA Info Type
rs3744872 - p.Asn245His
rs3744873 - p.Lys276Gln
rs748338 - p.Val122Met

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for RBFA Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

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

SNP Genotyping and Copy Number Assays for research

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

Disorders for RBFA Gene

MalaCards: The human disease database

(2) MalaCards diseases for RBFA Gene - From: COP

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

Additional Disease Information for RBFA

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

No data available for 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
  2. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4
  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
  4. A High-Density Human Mitochondrial Proximity Interaction Network. (PMID: 32877691) Antonicka H … Shoubridge EA (Cell metabolism 2020) 3
  5. A reference map of the human binary protein interactome. (PMID: 32296183) Luck K … Calderwood MA (Nature 2020) 3

Products for RBFA Gene

Sources for RBFA Gene