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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

FDXACB1 Gene

protein-coding   GIFtS: 38
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)
About This Section

This gene clusters with an RNA gene
Subcategory (RNA class): lncRNA

Quality score for the ORGUL clustered with this gene is 3

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   
ORGUL members:         
NONCODE14:n410902 n341121      

Export aliases for FDXACB1 gene to outside databases

Previous GC identifers: GC11M111252 GC11M111653


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

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, and is affiliated with the lncRNA class. 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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000011.9  NC_018922.2  NT_033899.8  
Regulatory elements:
   SABiosciences 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
   Search SABiosciences Chromatin IP Primers for FDXACB1

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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 UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB 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., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

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:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q9BRP7

  • FDXACB1 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    FDXACB1 Protein Expression
    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)
    About This Section
    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,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

         Gene Ontology (GO): 4 molecular function terms (GO ID links to tree view):    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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    (Pathways according to EMD Millipore, 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 SABiosciences, 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 Oct 2013 via Entrez Gene).
    About This Section



    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for FDXACB1

    STRING Interaction Network Preview (showing 5 interactants - click image to see 6)

    5/6 Interacting proteins for FDXACB1 (ENSP000002602574) via UniProtKB, MINT, STRING, and/or I2D (see all 6)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    ALG12ENSP000003338134STRING: ENSP00000333813
    ALG3ENSP000003807934STRING: ENSP00000380793
    ALG6ENSP000003601494STRING: ENSP00000360149
    H2AFXENSP000003643104STRING: ENSP00000364310
    BHMTENSP000002743534STRING: ENSP00000274353
    About this table

    Gene Ontology (GO): 2 biological process terms (GO ID links to tree view):    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 HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section
    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for FDXACB1 (FDXA1)

    Search CenterWatch for drugs/clinical trials and news about 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,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for FDXACB1 gene: 
    NM_138378.2  

    Unigene Cluster for FDXACB1:

    Ferredoxin-fold anticodon binding domain containing 1
    Hs.697132  [show with all ESTs]
    Unigene Representative Sequence: NM_138378
    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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    Inhib. RNA
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    Additional mRNA sequence: 

    AK097483.1 AK300795.1 AK311254.1 BC006136.1 BC107897.1 BC127680.1 BC127681.1 NR_038364.1 

    8 DOTS entries:

    DT.91645367  DT.95159780  DT.97838171  DT.95169455  DT.442967  DT.75106686  DT.309650  DT.99980981 

    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™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    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


    See FDXACB1 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for FDXACB1

    SOURCE GeneReport for Unigene cluster: Hs.697132
        SABiosciences Custom PCR Arrays for FDXACB1
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for FDXACB1

    (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)
    About This Section

    This gene was present in the common ancestor of animals and fungi.

    Orthologs for FDXACB1 gene from 5/10 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 1 less1, 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 1 less 57.71(n)
    51.58(a)
      419800  XM_417937.3  XP_417937.3 
    zebrafish
    (Danio rerio)
    Actinopterygii LOC5660221 ferredoxin-fold anticodon binding domain containing 1 less 51.55(n)
    45.69(a)
      566022  NM_001100019.1  NP_001093489.1 
    worm
    (Caenorhabditis elegans)
    Secernentea eef-1B.26
    Probable elongation factor 1-beta/1-delta 2
    12(a)
    1 → many
    IV(15037321-15039638)
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes MSF16
    Mitochondrial phenylalanyl-tRNA synthetase, active...
    17(a)
    1 → many
    XVI(657529-658938)


    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)
    About This Section
    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) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/231 SNPs in FDXACB1 are shown (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

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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
      --

    (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)
    About This Section

    PubMed articles for FDXACB1 gene integrated from 9 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. (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. (2006)
    3. Human chromosome 11 DNA sequence and analysis including novel gene identification. (PubMed id 16554811)2 Taylor T.D....Sakaki Y. (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. (2004)
    5. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1 Ota T.... Sugano S. (2004)
    6. Transcriptome characterization elucidates signaling networks that control human ES cell growth and differentiation. (PubMed id 15146197)1 Brandenberger R.... Stanton L.W. (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. (2002)
    8. The sequence of the human genome. (PubMed id 11181995)1 Venter J.C.... Zhu X. (2001)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     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)
    About This Section
    Entrez Gene: 91893 HGNC: 25110 Ensembl:ENSG00000255561 euGenes: HUgn91893 ECgene: FDXACB1
    H-InvDB: FDXACB1

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    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.)
    About This Section
    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, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, Gene Editing from DNA2.0 and Sirion Biotech, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Sirion Biotech, Cell lines from GenScript, and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or Enzo Life Sciences, In Situ Hybridization Assays from
    Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory, genOway)
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    GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 4 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

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    (GIFtS: 73)
    transforming growth factor, beta 1
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