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    RBFA ribosome binding factor A [ Homo sapiens (human) ]

    Gene ID: 79863, updated on 10-Dec-2024

    Summary

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    Official Symbol
    RBFAprovided by HGNC
    Official Full Name
    ribosome binding factor Aprovided by HGNC
    Primary source
    HGNC:HGNC:26120
    See related
    Ensembl:ENSG00000101546 MIM:620768; AllianceGenome:HGNC:26120
    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
    HsT169; C18orf22
    Summary
    Predicted to be involved in rRNA processing. Located in mitochondrion. [provided by Alliance of Genome Resources, Dec 2024]
    Expression
    Ubiquitous expression in fat (RPKM 3.2), skin (RPKM 2.6) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See RBFA in Genome Data Viewer
    Location:
    18q23
    Exon count:
    7
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 18 NC_000018.10 (80034434..80050651)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 18 NC_060942.1 (80310952..80327167)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 18 NC_000018.9 (77794434..77810651)

    Chromosome 18 - NC_000018.10Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC124904336 Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr18:77717730-77718328 Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr18:77718329-77718926 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr18:77720052-77720736 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13547 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9584 Neighboring gene heat shock factor binding protein 1 like 1 Neighboring gene thioredoxin like 4A Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9585 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9586 Neighboring gene ReSE screen-validated silencer GRCh37_chr18:77762974-77763187 Neighboring gene OCT4 hESC enhancer GRCh37_chr18:77766658-77767159 Neighboring gene Sharpr-MPRA regulatory region 15651 Neighboring gene ReSE screen-validated silencer GRCh37_chr18:77793921-77794077 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9587 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9589 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9590 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr18:77808538-77809737 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr18:77825575-77826076 Neighboring gene RBFA downstream neighbor Neighboring gene solute carrier family 25 member 6 pseudogene 4 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr18:77861530-77862273 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13548 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr18:77865569-77866070 Neighboring gene H3K27ac hESC enhancer GRCh37_chr18:77866897-77867398 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9592 Neighboring gene OCT4-NANOG-H3K4me1 hESC enhancer GRCh37_chr18:77876558-77877483 Neighboring gene ADNP homeobox 2

    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 recognition mode between hsRBFA and mitoribosome 12S rRNA during mitoribosomal biogenesis. Zhou W, et al. Nucleic Acids Res, 2023 Feb 22. PMID 36620886, Free PMC Article
    2. (1)H, (13)C, and (15)N resonance assignments and solution structures of the KH domain of human ribosome binding factor A, mtRbfA, involved in mitochondrial ribosome biogenesis. Kuwasako K, et al. Biomol NMR Assign, 2022 Oct. PMID 35666428
    3. The human RNA-binding protein RBFA promotes the maturation of the mitochondrial ribosome. Rozanska A, et al. Biochem J, 2017 Jun 13. PMID 28512204, Free PMC Article
    4. Identification of proteins interacting with the mitochondrial small heat shock protein Hsp22 of Drosophila melanogaster: Implication in mitochondrial homeostasis. Dabbaghizadeh A, et al. PLoS One, 2018. PMID 29509794, Free PMC Article
    5. Interaction proteome of human Hippo signaling: modular control of the co-activator YAP1. Hauri S, et al. Mol Syst Biol, 2013. PMID 24366813, Free PMC Article

    See all (27) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. The recognition mode between hsRBFA and mitoribosome 12S rRNA during mitoribosomal biogenesis.
      Title: The recognition mode between hsRBFA and mitoribosome 12S rRNA during mitoribosomal biogenesis.
    2. (1)H, (13)C, and (15)N resonance assignments and solution structures of the KH domain of human ribosome binding factor A, mtRbfA, involved in mitochondrial ribosome biogenesis.
      Title: (1)H, (13)C, and (15)N resonance assignments and solution structures of the KH domain of human ribosome binding factor A, mtRbfA, involved in mitochondrial ribosome biogenesis.
    Submit: New GeneRIF Correction

    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

    • FLJ18281, FLJ18505, FLJ21172, FLJ42604, FLJ97160

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in biological_process ND
    No biological Data available
    more info
    		  
    involved_in rRNA processing IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    located_in mitochondrion HTP PubMed 

    General protein information

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    Preferred Names
    putative ribosome-binding factor A, mitochondrial
    Names
    ribosome binding factor A (putative)

    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.

    mRNA and Protein(s)

    1. NM_001171967.2 → NP_001165438.1  putative ribosome-binding factor A, mitochondrial isoform 2 precursor

      See identical proteins and their annotated locations for NP_001165438.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) lacks an exon in the coding region, which results in a frameshift and an early stop codon, compared to variant 1. The encoded isoform (2) is shorter and has a distinct C-terminus, compared to isoform 1.
      Source sequence(s)
      AC090360, AF439745, AK307212
      Consensus CDS
      CCDS54194.1
      UniProtKB/Swiss-Prot
      Q8N0V3
      Related
      ENSP00000262197.6, ENST00000262197.7
      Conserved Domains (1) summary
      pfam02033
      Location:92 → 160
      RBFA; Ribosome-binding factor A

    2. NM_024805.3 → NP_079081.2  putative ribosome-binding factor A, mitochondrial isoform 1 precursor

      See identical proteins and their annotated locations for NP_079081.2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
      Source sequence(s)
      AC090360, AK307212, BC057772
      Consensus CDS
      CCDS12021.1
      UniProtKB/Swiss-Prot
      Q6PF07, Q8N0V3, Q8WZ65, Q9H776
      Related
      ENSP00000305696.4, ENST00000306735.10
      Conserved Domains (2) summary
      pfam02033
      Location:92 → 185
      RBFA; Ribosome-binding factor A
      cl21572
      Location:242 → 286
      GatB_Yqey; GatB domain

    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_000018.10 Reference GRCh38.p14 Primary Assembly

      Range
      80034434..80050651
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060942.1 Alternate T2T-CHM13v2.0

      Range
      80310952..80327167
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q8N0V3.3 GenPept UniProtKB/Swiss-Prot:Q8N0V3

    Gene LinkOut

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

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