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    FASTKD5 FAST kinase domains 5 [ Homo sapiens (human) ]

    Gene ID: 60493, updated on 28-Oct-2024

    Summary

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    Official Symbol
    FASTKD5provided by HGNC
    Official Full Name
    FAST kinase domains 5provided by HGNC
    Primary source
    HGNC:HGNC:25790
    See related
    Ensembl:ENSG00000215251 MIM:614272; AllianceGenome:HGNC:25790
    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
    dJ1187M17.5
    Summary
    Enables rRNA binding activity. Involved in mitochondrial RNA processing. Located in mitochondrial nucleoid and ribonucleoprotein granule. [provided by Alliance of Genome Resources, Oct 2024]
    Expression
    Ubiquitous expression in bone marrow (RPKM 15.0), adrenal (RPKM 8.0) and 25 other tissues See more
    Orthologs
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    Genomic context

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    See FASTKD5 in Genome Data Viewer
    Location:
    20p13
    Exon count:
    2
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 20 NC_000020.11 (3146519..3159865, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 20 NC_060944.1 (3177419..3190765, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 20 NC_000020.10 (3127165..3140511, complement)

    Chromosome 20 - NC_000020.11Genomic Context describing neighboring genes Neighboring gene H3K27ac hESC enhancer GRCh37_chr20:3073228-3073728 Neighboring gene H3K27ac hESC enhancer GRCh37_chr20:3073729-3074229 Neighboring gene arginine vasopressin Neighboring gene RNA, 7SL, cytoplasmic 555, pseudogene Neighboring gene UBOX5 antisense RNA 1 Neighboring gene U-box domain containing 5 Neighboring gene leucine zipper tumor suppressor family member 3 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12614 Neighboring gene uncharacterized LOC107985414

    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 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. NLRX1 resides in mitochondrial RNA granules and regulates mitochondrial RNA processing and bioenergetic adaptation. Singh K, et al. Biochim Biophys Acta Mol Cell Res, 2018 Sep. PMID 29932989
    2. The FASTK family proteins fine-tune mitochondrial RNA processing. Ohkubo A, et al. PLoS Genet, 2021 Nov. PMID 34748562, Free PMC Article
    3. The FASTK family of proteins: emerging regulators of mitochondrial RNA biology. Jourdain AA, et al. Nucleic Acids Res, 2017 Nov 2. PMID 29036396, Free PMC Article
    4. Mitochondrial RNA Granules Are Centers for Posttranscriptional RNA Processing and Ribosome Biogenesis. Antonicka H, et al. Cell Rep, 2015 Feb 17. PMID 25683715
    5. Fast kinase domain-containing protein 3 is a mitochondrial protein essential for cellular respiration. Simarro M, et al. Biochem Biophys Res Commun, 2010 Oct 22. PMID 20869947, Free PMC Article

    See all (70) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. The FASTK family proteins fine-tune mitochondrial RNA processing.
      Title: The FASTK family proteins fine-tune mitochondrial RNA processing.
    2. Data show that the binding of FASTKD5 to mitochondrial RNA transcripts is regulated by NLRX1 which specifically interacts with FASTKD5.
      Title: NLRX1 resides in mitochondrial RNA granules and regulates mitochondrial RNA processing and bioenergetic adaptation.
    3. Despite the fact that proteins of the FASTK family FASTKD1-5 share the same domains, they exhibit various-sometimes opposing-functions in almost all steps of mitochondrial RNA metabolism.
      Title: The FASTK family of proteins: emerging regulators of mitochondrial RNA biology.
    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)

    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

    • FLJ13149, FLJ58294

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables RNA binding HDA PubMed 
    enables RNA binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables rRNA binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in mRNA processing IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in mitochondrial RNA processing IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in mitochondrial RNA processing IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in regulation of mitochondrial mRNA stability IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Component Evidence Code Pubs
    is_active_in mitochondrial matrix IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in mitochondrial matrix TAS
    Traceable Author Statement
    more info
    		  
    located_in mitochondrial nucleoid IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in mitochondrion HTP PubMed 
    located_in mitochondrion IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    is_active_in ribonucleoprotein granule IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in ribonucleoprotein granule IDA
    Inferred from Direct Assay
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    FAST kinase domain-containing protein 5, mitochondrial

    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_021826.5 → NP_068598.1  FAST kinase domain-containing protein 5, mitochondrial

      See identical proteins and their annotated locations for NP_068598.1

      Status: VALIDATED

      Source sequence(s)
      AW182833, BC007413, BC011856
      Consensus CDS
      CCDS13048.1
      UniProtKB/Swiss-Prot
      Q7L8L6, Q96JN3, Q9H5D1, Q9H8Y3
      UniProtKB/TrEMBL
      B4DWZ8
      Related
      ENSP00000369618.3, ENST00000380266.4
      Conserved Domains (3) summary
      smart00952
      Location:699 → 758
      RAP; This domain is found in various eukaryotic species, particularly in apicomplexans
      pfam06743
      Location:431 → 499
      FAST_1; FAST kinase-like protein, subdomain 1
      pfam08368
      Location:514 → 601
      FAST_2; FAST kinase-like protein, subdomain 2

    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_000020.11 Reference GRCh38.p14 Primary Assembly

      Range
      3146519..3159865 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060944.1 Alternate T2T-CHM13v2.0

      Range
      3177419..3190765 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q7L8L6.1 GenPept UniProtKB/Swiss-Prot:Q7L8L6

    Gene LinkOut

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

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