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    FDXACB1 ferredoxin-fold anticodon binding domain containing 1 [ Homo sapiens (human) ]

    Gene ID: 91893, updated on 10-Dec-2024

    Summary

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    Official Symbol
    FDXACB1provided by HGNC
    Official Full Name
    ferredoxin-fold anticodon binding domain containing 1provided by HGNC
    Primary source
    HGNC:HGNC:25110
    See related
    Ensembl:ENSG00000255561 AllianceGenome:HGNC:25110
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    hCG_2033039
    Summary
    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]
    Expression
    Broad expression in testis (RPKM 3.2), lymph node (RPKM 1.6) and 24 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See FDXACB1 in Genome Data Viewer
    Location:
    11q23.1
    Exon count:
    5
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 11 NC_000011.10 (111874056..111879165, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 11 NC_060935.1 (111884300..111889408, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (111744780..111749889, complement)

    Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene ALG9 alpha-1,2-mannosyltransferase Neighboring gene uncharacterized LOC124902756 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3901 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr11:111685391-111686590 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5520 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5521 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:111709725-111710226 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3902 Neighboring gene G protein subunit gamma 5 pseudogene 3 Neighboring gene H3K27ac hESC enhancer GRCh37_chr11:111749557-111750176 Neighboring gene cilia and flagella associated protein 68 Neighboring gene ribosomal protein L37a pseudogene 8

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    Related articles in PubMed

    1. The sequence of the human genome. Venter JC, et al. Science, 2001 Feb 16. PMID 11181995
    2. Transcriptome characterization elucidates signaling networks that control human ES cell growth and differentiation. Brandenberger R, et al. Nat Biotechnol, 2004 Jun. PMID 15146197
    3. A census of human soluble protein complexes. Havugimana PC, et al. Cell, 2012 Aug 31. PMID 22939629, Free PMC Article
    4. Histone Interaction Landscapes Visualized by Crosslinking Mass Spectrometry in Intact Cell Nuclei. Fasci D, et al. Mol Cell Proteomics, 2018 Oct. PMID 30021884, Free PMC Article
    5. A proteome-scale map of the human interactome network. Rolland T, et al. Cell, 2014 Nov 20. PMID 25416956, Free PMC Article

    See all (13) citations in PubMed

    GeneRIFs: Gene References Into Functions

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • FLJ58308

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables rRNA (uridine-N3-)-methyltransferase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Process Evidence Code Pubs
    involved_in rRNA base methylation IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Component Evidence Code Pubs
    is_active_in cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  

    General protein information

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    Preferred Names
    ferredoxin-fold anticodon-binding domain-containing protein 1
    Names
    FDX-ACDB domain-containing protein 1
    hypothetical protein BC006136

    NCBI Reference Sequences (RefSeq)

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    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_029081.1 RefSeqGene

      Range
      5293..10402
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_138378.3 → NP_612387.1  ferredoxin-fold anticodon-binding domain-containing protein 1

      See identical proteins and their annotated locations for NP_612387.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the protein-coding transcript.
      Source sequence(s)
      AW296845, BC006136, BC127680, CN260853
      Consensus CDS
      CCDS44729.1
      UniProtKB/Swiss-Prot
      A0PJW7, B4DUU2, Q9BRP7
      Related
      ENSP00000260257.4, ENST00000260257.9
      Conserved Domains (2) summary
      smart00896
      Location:530 → 624
      FDX-ACB; Ferredoxin-fold anticodon binding domain
      pfam10354
      Location:7 → 176
      DUF2431; Domain of unknown function (DUF2431)

    RNA

    1. NR_038364.2 RNA Sequence

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) lacks an exon in the 5' region compared to variant 1. This results in the creation of upstream open reading frames (uORFs) with strong Kozak signals that would interfere with translation of the downstream primary ORF; translation from the uORFs makes this transcript a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      AK311254, AW296845, BC006136

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000011.10 Reference GRCh38.p14 Primary Assembly

      Range
      111874056..111879165 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060935.1 Alternate T2T-CHM13v2.0

      Range
      111884300..111889408 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9BRP7.3 GenPept UniProtKB/Swiss-Prot:Q9BRP7

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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