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FDXACB1 Gene

protein-coding   GIFtS: 34
GCID: GC11M111745

Ferredoxin-Fold Anticodon Binding Domain Containing 1

  Search for FDXACB1
at  

(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
Ferredoxin-Fold Anticodon Binding Domain Containing 11 2
Hypothetical Protein BC0061361 2
FDX-ACDB Domain-Containing Protein 12 3
Ferredoxin-Fold Anticodon-Binding Domain-Containing Protein 12

External Ids:    HGNC: 251101   Entrez Gene: 918932   Ensembl: ENSG000002555617   UniProtKB: Q9BRP73   

Export aliases for FDXACB1 gene to outside databases

Previous GC identifers: GC11M111252 GC11M111653


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for FDXACB1 Gene:
This gene encodes a protein which contains a ferredoxin-fold anticodon-binding domain which is contained in a
subset of phenylalanyl tRNA synthetases. Alternative splicing results in multiple transcript variants. (provided
by RefSeq, Aug 2011)

GeneCards Summary for FDXACB1 Gene:
FDXACB1 (ferredoxin-fold anticodon binding domain containing 1) is a protein-coding gene. GO annotations related to this gene include phenylalanine-tRNA ligase activity and magnesium ion binding. An important paralog of this gene is ENSG00000258529.




(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:
   Regulatory transcription factor binding sites in the FDXACB1 gene promoter:
         RP58   Nkx2-2   Nkx2-5   NF-AT   FOXL1   Gfi-1   POU2F1   POU2F1a   NF-AT1   En-1   
         Other transcription factors

Browse SwitchGear Promoter luciferase reporter plasmids
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Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat FDXACB1


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

Entrez Gene cytogenetic band: 11q23.1   Ensembl cytogenetic band:  11q23.1   HGNC cytogenetic band: 11q23.1

FDXACB1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
FDXACB1 gene location

GeneLoc information about chromosome 11         GeneLoc Exon Structure

GeneLoc location for GC11M111745:  view genomic region     (about GC identifiers)

Start:
111,744,780 bp from pter      End:
111,751,967 bp from pter
Size:
7,188 bases      Orientation:
minus strand
ORGUL member locations:
Legend (see complete legend)

ORGUL Member Locations for FDXACB1

(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, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: FDXA1_HUMAN, Q9BRP7 (See protein sequence)
Recommended Name: Ferredoxin-fold anticodon-binding domain-containing protein 1  
Size: 624 amino acids; 70416 Da
Sequence caution: Sequence=AAH06136.1; Type=Erroneous initiation; Note=Translation N-terminally shortened;
Secondary accessions: A0PJW7

Explore the universe of human proteins at neXtProt for FDXACB1: NX_Q9BRP7

Explore proteomics data for FDXACB1 at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See FDXACB1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_612387.1  
    ENSEMBL proteins: 
     ENSP00000260257   ENSP00000431629   ENSP00000435572   ENSP00000441304  

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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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    2 InterPro protein domains:
     IPR019446 DUF2431
     IPR005121 PheS_beta_Fdx_antiC-bd

    Graphical View of Domain Structure for InterPro Entry Q9BRP7

    ProtoNet protein and cluster: Q9BRP7

    UniProtKB/Swiss-Prot: FDXA1_HUMAN, Q9BRP7
    Similarity: Contains 1 FDX-ACB domain


    FDXACB1 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, 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, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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         Gene Ontology (GO): 4 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000049tRNA binding IEA--
    GO:0000287magnesium ion binding IEA--
    GO:0004826phenylalanine-tRNA ligase activity IEA--
    GO:0005524ATP binding IEA--
         
    FDXACB1 for ontologies           About GeneDecksing


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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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    (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 FDXACB1
    Interactions:

        Search GeneGlobe Interaction Network for FDXACB1

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    Selected Interacting proteins for FDXACB1 (ENSP000002602574) via UniProtKB, MINT, STRING, and/or I2D (see all 64)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    ALG12ENSP000003338134STRING: ENSP00000333813
    ALG3ENSP000003807934STRING: ENSP00000380793
    ALG6ENSP000003601494STRING: ENSP00000360149
    H2AFXENSP000003643104STRING: ENSP00000364310
    ELP3ENSP000002563984STRING: ENSP00000256398
    About this table

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006432phenylalanyl-tRNA aminoacylation IEA--
    GO:0008033tRNA processing IEA--

    FDXACB1 for ontologies           About GeneDecksing



    (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
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    Browse Tocris compounds for FDXACB1 (FDXA1)



    (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, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for FDXACB1 gene: 
    NM_138378.2  

    4 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000260257(uc001pmc.4 uc009yyi.3) ENST00000531487 ENST00000528274
    ENST00000542429
    miRNA
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    hsa-miR-3168 hsa-miR-548k
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    GeneLoc Exon Structure


    (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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    FDXACB1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GAACGAATAA
    FDXACB1 Expression
    About this image

    FDXACB1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    FDXACB1 Protein Expression
        Custom PCR Arrays for FDXACB1
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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 and fungi.

    Orthologs for FDXACB1 gene from Selected species (see all 10)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Fdxacb11 , 5 ferredoxin-fold anticodon binding domain containing more1, 5 80.55(n)1
    71.86(a)1
      9 (27.75 cM)5
    3821371  NM_198675.21  NP_941077.21 
     507682365 
    chicken
    (Gallus gallus)
    Aves FDXACB11 ferredoxin-fold anticodon binding domain containing more 58.14(n)
    51.16(a)
      419800  XM_417937.4  XP_417937.3 
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia fdxacb11 ferredoxin-fold anticodon binding domain containing more 51.83(n)
    43.49(a)
      101734143  XM_004916106.1  XP_004916163.1 
    zebrafish
    (Danio rerio)
    Actinopterygii LOC5660221 ferredoxin-fold anticodon binding domain containing more 51.68(n)
    46.03(a)
      566022  NM_001100019.1  NP_001093489.1 
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes MSF16
    Mitochondrial phenylalanyl-tRNA synthetase, active...
    18(a)
    1 → many
    XVI(657529-658938) YPR047W


    ENSEMBL Gene Tree for FDXACB1 (if available)
    TreeFam Gene Tree for FDXACB1 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for FDXACB1 gene
    ENSG000002585292  FARS22  
    1 SIMAP similar gene for FDXACB1 using alignment to 4 protein entries:     FDXA1_HUMAN (see all proteins):
    ALG9

    FDXACB1 for paralogs           About GeneDecksing



    (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 FDXACB1 (see all 231)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 11 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs2010935961,2
    C--111610714(+) GACTTA/GTCTTG 3 D nc-transcript-variantsyn10--------
    rs1385280481,2
    C--111610753(+) AGTCTA/GTCATT 2 -- int10--------
    rs6349831,2
    C,F,H--111610787(+) GAGACT/CGAATC 2 -- int128Minor allele frequency- C:0.26NA NS EA WA CSA 2676
    rs2004198591,2
    --111610945(+) TACACA/GTCGCT 3 D nc-transcript-variantsyn10--------
    rs752587451,2
    C,F--111610947(+) CACGTC/TGCTTA 3 N D nc-transcript-variantmis12Minor allele frequency- T:0.01NA EU 713
    rs1492566401,2
    C,F--111610948(+) ACGTCG/ACTTAA 3 /S nc-transcript-variantsyn11Minor allele frequency- A:0.02EU 593
    rs2021700431,2
    C--111610960(+) ATGAGC/TCCCCC 3 G nc-transcript-variantsyn11Minor allele frequency- T:0.00EU 593
    rs2004594031,2
    C--111611036(+) TTCCAC/TCTTGT 3 D G nc-transcript-variantmis10--------
    rs1832794591,2
    C--111611045(+) GTCCTC/GTACAT 3 T R nc-transcript-variantmis10--------
    rs1448335821,2
    C,F--111611085(+) AAGAAC/TGTCTG 3 I V nc-transcript-variantmis11Minor allele frequency- T:0.02EU 572

    HapMap Linkage Disequilibrium report for FDXACB1 (111744780 - 111751967 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 1 variation for FDXACB1:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv832269CNV Loss17160897

    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 FDXACB1 gene integrated from 10 sources:
    (articles sorted by number of sources associating them with FDXACB1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. A census of human soluble protein complexes. (PubMed id 22939629)1 Havugimana P.C....Emili A. (Cell 2012)
    2. Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes. (PubMed id 16344560)1 Kimura K.... Sugano S. (Genome Res. 2006)
    3. Human chromosome 11 DNA sequence and analysis including novel gene identification. (PubMed id 16554811)2 Taylor T.D....Sakaki Y. (Nature 2006)
    4. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)2 Gerhard D.S.... Malek J. (Genome Res. 2004)
    5. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1 Ota T.... Sugano S. (Nat. Genet. 2004)
    6. Transcriptome characterization elucidates signaling networks that control human ES cell growth and differentiation. (PubMed id 15146197)1 Brandenberger R.... Stanton L.W. (Nat. Biotechnol. 2004)
    7. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PubMed id 12477932)1 Strausberg R.L....Marra M.A. (Proc. Natl. Acad. Sci. U.S.A. 2002)
    8. The sequence of the human genome. (PubMed id 11181995)1 Venter J.C.... Zhu X. (Science 2001)

    (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: 91893 HGNC: 25110 Ensembl:ENSG00000255561 euGenes: HUgn91893 ECgene: FDXACB1
    H-InvDB: FDXACB1

    (According to HUGE)
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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 FDXACB1 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 FDXACB1 gene:
    Search GeneIP for patents involving FDXACB1

    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, LSBio, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript, and ESI BIO, 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 inGenious Targeting Laboratory, genOway)
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