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RBFA Gene

protein-coding   GIFtS: 42
GCID: GC18P077795

Ribosome Binding Factor A (Putative)

(Previous name: chromosome 18 open reading frame 22)
(Previous symbol: C18orf22)
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(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Ribosome Binding Factor A (Putative)1 2
C18orf221 2 3
Chromosome 18 Open Reading Frame 221
HsT1692
Putative Ribosome-Binding Factor A, Mitochondrial2

External Ids:    HGNC: 261201   Entrez Gene: 798632   Ensembl: ENSG000001015467   UniProtKB: Q8N0V33   

Export aliases for RBFA gene to outside databases


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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GeneCards Summary for RBFA Gene:
RBFA (ribosome binding factor A (putative)) is a protein-coding gene.


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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Regulatory elements:
   Search for regulatory transcription factor binding sites for RBFA
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidRBFA promoter sequence
   Search Chromatin IP Primers for RBFA

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat RBFA


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 18q23   Ensembl cytogenetic band:  18q23   HGNC cytogenetic band: 18q23

RBFA Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
RBFA gene location

GeneLoc information about chromosome 18         GeneLoc Exon Structure

GeneLoc location for GC18P077795:  view genomic region     (about GC identifiers)

Start:
77,794,346 bp from pter      End:
77,810,652 bp from pter
Size:
16,307 bases      Orientation:
plus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, Cloud-Clone Corp., eBioscience, and/or antibodies-online,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., eBioscience, and/or antibodies-online, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
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UniProtKB/Swiss-Prot: RBFA_HUMAN, Q8N0V3 (See protein sequence)
Recommended Name: Putative ribosome-binding factor A, mitochondrial precursor  
Size: 343 amino acids; 38359 Da
1 PDB 3D structure from and Proteopedia for RBFA:
2E7G (3D)    
Secondary accessions: Q6PF07 Q8WZ65 Q9H776
Alternative splicing: 2 isoforms:  Q8N0V3-1   Q8N0V3-2   

Explore the universe of human proteins at neXtProt for RBFA: NX_Q8N0V3

Explore proteomics data for RBFA at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See RBFA Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (2 alternative transcripts): 
    NP_001165438.1  NP_079081.2  

    ENSEMBL proteins: 
     ENSP00000305696   ENSP00000262197  

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    antibodies-online peptides for RBFA

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    antibodies-online antibodies for RBFA (17 products) 

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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    4 InterPro protein domains:
     IPR023799 Ribosome-bd_facA_dom
     IPR000238 Ribosome-bd_facA
     IPR020053 Ribosome-bd_factorA_CS
     IPR015946 KH_dom-like_a/b

    Graphical View of Domain Structure for InterPro Entry Q8N0V3

    ProtoNet protein and cluster: Q8N0V3

    1 Blocks protein domain: IPB000238 Ribosome-binding factor A

    UniProtKB/Swiss-Prot: RBFA_HUMAN, Q8N0V3
    Similarity: Belongs to the RbfA family


    Find genes that share domains with RBFA           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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         Gene Ontology (GO): 1 molecular function term:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003674molecular_function ND--
         
    Find genes that share ontologies with RBFA           About GenesLikeMe


    Phenotypes:
         1 GenomeRNAi human phenotype for RBFA:
     Decreased viability with pacli 

    Animal Models:
       genOway: Develop your customized and physiologically relevant rodent model for RBFA

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    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    RBFA_HUMAN, Q8N0V3: Mitochondrion (Potential)

    Gene Ontology (GO): 2 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005575cellular_component ND--
    GO:0005739mitochondrion IEA--

    Find genes that share ontologies with RBFA           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for RBFA
    Interactions:

        Search GeneGlobe Interaction Network for RBFA

    STRING Interaction Network Preview (showing 3 interactants - click image to see more details)

    Selected Interacting proteins for RBFA (Q8N0V32, 3 ENSP000003056964) via UniProtKB, MINT, STRING, and/or I2D (see all 245)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    MYCP011063, ENSP000003672074I2D: score=1 STRING: ENSP00000367207
    KBTBD7Q8WVZ93, ENSP000003687974I2D: score=3 STRING: ENSP00000368797
    ICT1Q141972, ENSP000003015854MINT-8079030 STRING: ENSP00000301585
    AARS2Q5JTZ92MINT-8079030
    AASSQ9UDR52MINT-8079030
    About this table

    Gene Ontology (GO): 2 biological process terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006364rRNA processing IEA--
    GO:0008150biological_process ND--

    Find genes that share ontologies with RBFA           About GenesLikeMe



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for RBFA



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for RBFA gene (2 alternative transcripts): 
    NM_001171967.1  NM_024805.2  

    5 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000306735(uc002lns.3) ENST00000586847 ENST00000591612 ENST00000262197(uc010drh.3)
    ENST00000593019
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    Selected AceView cDNA sequences (see all 128):

    BC014195 AI679244 CR602922 BM561259 BI160545 BM547281 CR593794 AF070628 
    BM932115 BM564799 BM764475 AI367681 CD106379 AI500135 CB127331 BQ943575 
    AI679820 AW167521 BQ681885 BU147336 AI433441 BE907584 CB142109 BG830257 

    GeneLoc Exon Structure

    4 Alternative Splicing Database (ASD) splice patterns (SP) for RBFA    About this scheme

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


    ECgene alternative splicing isoforms for RBFA

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    RBFA expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: CACTGTGTGT
    RBFA Expression
    About this image


    RBFA expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 6) fully expand
     
     Brain (Nervous System)    fully expand to see all 3 entries
             Cerebellum
     
     Trophoblast (Extraembryonic Tissues)
             Trophoblast Cells Trophoblast
     
     Ovary (Reproductive System)
             Oviduct
     
     Pancreas (Endocrine System)
             Islets of Langerhans
     
     Testis (Reproductive System)
             Leydig Cells Testis Interstitium
    RBFA Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    RBFA Protein Expression
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    In Situ
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    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of animals.

    Orthologs for RBFA gene from Selected species (see all 12)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Rbfa1 , 5 ribosome binding factor A1, 5 72.1(n)1
    63.08(a)1
      18 (53.33 cM)5
    687311  NM_199197.11  NP_954667.11 
     801922645 
    chicken
    (Gallus gallus)
    Aves RBFA1 ribosome binding factor A (putative) 55.95(n)
    42.53(a)
      420806  NM_001012861.1  NP_001012879.1 
    lizard
    (Anolis carolinensis)
    Reptilia RBFA6
    ribosome binding factor A (putative)
    37(a)
    1 ↔ 1
    4(53193647-53204665)
    zebrafish
    (Danio rerio)
    Actinopterygii rbfa1 ribosome binding factor A 56.5(n)
    44.49(a)
      100037330  NM_001089485.1  NP_001082954.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG159166
    --
    24(a)
    1 ↔ 1
    X(15784622-15785580)


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for RBFA gene

    Find genes that share paralogs with RBFA           About GenesLikeMe


    2 Pseudogenes.org Pseudogenes for RBFA
    PGOHUM00000246802 PGOHUM00000241898


    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for RBFA (see all 499)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 18 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1500412381,2
    --77630640(+) ACCCAC/TATTCC 2 -- us2k10--------
    rs1836167431,2
    --77630663(+) TTTTCA/TCCAAA 2 -- us2k10--------
    rs1477394551,2
    --77630670(+) CAAAAG/TATTTT 2 -- us2k10--------
    rs1892299271,2
    --77792361(+) GGGAAA/GTGTGA 2 -- us2k10--------
    rs1127401341,2
    F--77792404(+) TTAGCT/CAAAGG 2 -- us2k11Minor allele frequency- C:0.00CSA 1
    rs20969661,2
    C,F,A,H--77792450(+) gtctcG/Cccctt 2 -- us2k1 trp39Minor allele frequency- C:0.43WA NA CSA EA 370
    rs1128848581,2
    F--77792453(+) TCCCCC/TTTTTG 2 -- us2k11Minor allele frequency- T:0.50CSA 2
    rs1478894171,2
    C--77792591(+) TCCCAA/GCACTT 2 -- us2k10--------
    rs1489301011,2
    C--77792597(+) CACTTC/TGGAAG 2 -- us2k10--------
    rs21057171,2
    C,F,A,H--77792676(+) ctctaC/Ttaaaa 2 -- us2k18Minor allele frequency- T:0.19NA CSA 16

    HapMap Linkage Disequilibrium report for RBFA (77794346 - 77810652 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 5 variations for RBFA:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv470437CNV Loss18288195
    nsv910009CNV Loss21882294
    nsv910065CNV Gain21882294
    nsv428359CNV Gain18775914
    esv28269CNV Gain19812545

    Site Specific Mutation Identification with PCR Assays
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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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      --

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for RBFA gene integrated from 10 sources:
    (articles sorted by number of sources associating them with RBFA)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S.... Malek J. (Genome Res. 2004)
    2. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (Nat. Genet. 2004)
    3. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PubMed id 12477932)1, 3 Strausberg R.L....Marra M.A. (Proc. Natl. Acad. Sci. U.S.A. 2002)
    4. Pathway Analysis of ChIP-Seq-Based NRF1 Target Genes Suggests a Logical Hypothesis of their Involvement in the Pathogenesis of Neurodegenerative Diseases. (PubMed id 24250222)1 Satoh J....Yamamoto Y. (Gene Regul Syst Bio 2013)
    5. Network organization of the human autophagy system. (PubMed id 20562859)1 Behrends C....Harper J.W. (Nature 2010)
    6. hORFeome v3.1: a resource of human open reading frames representing over 10,000 human genes. (PubMed id 17207965)1 Lamesch P.... Vidal M. (Genomics 2007)
    7. (PubMed id )2 

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 79863 HGNC: 26120 AceView: C18orf22 Ensembl:ENSG00000101546 euGenes: HUgn79863
    ECgene: RBFA H-InvDB: RBFA

    (According to HUGE)
    About This Section

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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for RBFA Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for RBFA gene:
    Search GeneIP for patents involving RBFA

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, eBioscience, antibodies-online, and/or others, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Addgene, Cell lines from GenScript, and ESI BIO, Flow cytometery from eBioscience, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
    Advanced Cell Diagnostics, Animal models from genOway)
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    GeneCards Homepage - Last full update: 7 May 2014 - Incrementals: 9 May 2014 , 2 Jun 2014 , 26 Jun 2014 , 30 Jun 2014 , 21 Aug 2014 , 8 Sep 2014 , 7 Oct 2014

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