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

Gene ID: 91893, updated on 5-Mar-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
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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_2023_10 current GRCh38.p14 (GCF_000001405.40) 11 NC_000011.10 (111874056..111879165, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 11 NC_060935.1 (111884300..111889408, complement)
105.20220307 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)

Genotypes

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_2023_10

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

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