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    FASTKD1 FAST kinase domains 1 [ Homo sapiens (human) ]

    Gene ID: 79675, updated on 3-Nov-2024

    Summary

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    Official Symbol
    FASTKD1provided by HGNC
    Official Full Name
    FAST kinase domains 1provided by HGNC
    Primary source
    HGNC:HGNC:26150
    See related
    Ensembl:ENSG00000138399 MIM:617529; AllianceGenome:HGNC:26150
    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
    Summary
    Enables RNA binding activity. Involved in mitochondrial RNA metabolic process and regulation of mitochondrial mRNA stability. Located in mitochondrion. [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Ubiquitous expression in heart (RPKM 4.3), duodenum (RPKM 3.9) and 25 other tissues See more
    Orthologs
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    Genomic context

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    See FASTKD1 in Genome Data Viewer
    Location:
    2q31.1
    Exon count:
    17
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (169528508..169573865, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (170005739..170051227, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (170385018..170430375, complement)

    Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16738 Neighboring gene MPRA-validated peak3917 silencer Neighboring gene Bardet-Biedl syndrome 5 Neighboring gene kelch like family member 41 Neighboring gene ReSE screen-validated silencer GRCh37_chr2:170393950-170394098 Neighboring gene H3K27ac hESC enhancer GRCh37_chr2:170429982-170430584 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16741 Neighboring gene peptidylprolyl isomerase G Neighboring gene MPRA-validated peak3919 silencer Neighboring gene CYFIP related Rac1 interactor B pseudogene Neighboring gene cilia and flagella associated protein 210

    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. Proximity Biotinylation as a Method for Mapping Proteins Associated with mtDNA in Living Cells. Han S, et al. Cell Chem Biol, 2017 Mar 16. PMID 28238724, Free PMC Article
    2. 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
    3. FASTKD1 and FASTKD4 have opposite effects on expression of specific mitochondrial RNAs, depending upon their endonuclease-like RAP domain. Boehm E, et al. Nucleic Acids Res, 2017 Jun 2. PMID 28335001, Free PMC Article
    4. 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
    5. Prediction of the coding sequences of unidentified human genes. XX. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro. Nagase T, et al. DNA Res, 2001 Apr 27. PMID 11347906

    See all (30) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. 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.
    2. Disruption of FASTKD1 increases ND3 mRNA level. Disrupting FASTKD1 and FASTKD4 decreases ND3 mRNA like depleting FASTKD4 alone. Each RAP domain of FASTK proteins contains a nuclease fold with a conserved aspartate residue at the putative active site. The RAP domain is essential for the function of the FASTK proteins, while the region upstream determines RNA targeting and protein localization.
      Title: FASTKD1 and FASTKD4 have opposite effects on expression of specific mitochondrial RNAs, depending upon their endonuclease-like RAP domain.
    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

    • FLJ21901, KIAA1800

    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 
    Process Evidence Code Pubs
    involved_in mitochondrial RNA metabolic process IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in mitochondrial RNA processing IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in regulation of mitochondrial mRNA stability IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in regulation of mitochondrial mRNA stability IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    Component Evidence Code Pubs
    is_active_in mitochondrial matrix IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    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
    		  

    General protein information

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    Preferred Names
    FAST kinase domain-containing protein 1, 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_001281476.3 → NP_001268405.1  FAST kinase domain-containing protein 1, mitochondrial isoform 2

      Status: VALIDATED

      Source sequence(s)
      AB058703, AK055892, AL832058, CA449468, DA650481
      Consensus CDS
      CCDS63051.1
      UniProtKB/Swiss-Prot
      Q53R41
      Related
      ENSP00000403229.2, ENST00000453929.6
      Conserved Domains (3) summary
      smart00952
      Location:736 → 795
      RAP; This domain is found in various eukaryotic species, particularly in apicomplexans
      pfam06743
      Location:575 → 642
      FAST_1; FAST kinase-like protein, subdomain 1
      pfam08368
      Location:657 → 699
      FAST_2; FAST kinase-like protein, subdomain 2

    2. NM_001322046.2 → NP_001308975.1  FAST kinase domain-containing protein 1, mitochondrial isoform 1

      Status: VALIDATED

      Source sequence(s)
      AB058703, AC093899, AK055892, AL832058, CA449468, DA650481
      Consensus CDS
      CCDS33318.1
      UniProtKB/Swiss-Prot
      Q53R41, Q8N583, Q8TEA9, Q96JM5, Q96N71, Q9H6T4
      Conserved Domains (3) summary
      smart00952
      Location:779 → 838
      RAP; This domain is found in various eukaryotic species, particularly in apicomplexans
      pfam06743
      Location:575 → 642
      FAST_1; FAST kinase-like protein, subdomain 1
      pfam08368
      Location:662 → 742
      FAST_2; FAST kinase-like protein, subdomain 2

    3. NM_001322048.2 → NP_001308977.1  FAST kinase domain-containing protein 1, mitochondrial isoform 3

      Status: VALIDATED

      Source sequence(s)
      AB058703, AK055892, AL832058, CA449468, DA650481
      Conserved Domains (3) summary
      smart00952
      Location:756 → 815
      RAP; This domain is found in various eukaryotic species, particularly in apicomplexans
      pfam06743
      Location:552 → 619
      FAST_1; FAST kinase-like protein, subdomain 1
      pfam08368
      Location:639 → 719
      FAST_2; FAST kinase-like protein, subdomain 2

    4. NM_001322049.2 → NP_001308978.1  FAST kinase domain-containing protein 1, mitochondrial isoform 4

      Status: VALIDATED

      Source sequence(s)
      AB058703, AK055892, AL832058, BC017950, BC032687, CA449468, DA650481
      UniProtKB/Swiss-Prot
      Q53R41
      UniProtKB/TrEMBL
      Q05D57
      Conserved Domains (3) summary
      smart00952
      Location:713 → 772
      RAP; This domain is found in various eukaryotic species, particularly in apicomplexans
      pfam06743
      Location:552 → 619
      FAST_1; FAST kinase-like protein, subdomain 1
      pfam08368
      Location:634 → 676
      FAST_2; FAST kinase-like protein, subdomain 2

    5. NM_024622.6 → NP_078898.3  FAST kinase domain-containing protein 1, mitochondrial isoform 1

      See identical proteins and their annotated locations for NP_078898.3

      Status: VALIDATED

      Source sequence(s)
      AB058703, AK055892, AL832058, CA449468, DA650481
      Consensus CDS
      CCDS33318.1
      UniProtKB/Swiss-Prot
      Q53R41, Q8N583, Q8TEA9, Q96JM5, Q96N71, Q9H6T4
      Related
      ENSP00000400513.2, ENST00000453153.7
      Conserved Domains (3) summary
      smart00952
      Location:779 → 838
      RAP; This domain is found in various eukaryotic species, particularly in apicomplexans
      pfam06743
      Location:575 → 642
      FAST_1; FAST kinase-like protein, subdomain 1
      pfam08368
      Location:662 → 742
      FAST_2; FAST kinase-like protein, subdomain 2

    RNA

    1. NR_104020.3 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AB058703, AK055892, AK130797, AL832058, CA449468, DA650481

    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_000002.12 Reference GRCh38.p14 Primary Assembly

      Range
      169528508..169573865 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_006712750.5 → XP_006712813.1  FAST kinase domain-containing protein 1, mitochondrial isoform X1

      See identical proteins and their annotated locations for XP_006712813.1

      Conserved Domains (3) summary
      smart00952
      Location:756 → 815
      RAP; This domain is found in various eukaryotic species, particularly in apicomplexans
      pfam06743
      Location:552 → 619
      FAST_1; FAST kinase-like protein, subdomain 1
      pfam08368
      Location:639 → 719
      FAST_2; FAST kinase-like protein, subdomain 2

    2. XM_047445832.1 → XP_047301788.1  FAST kinase domain-containing protein 1, mitochondrial isoform X3

    3. XM_047445830.1 → XP_047301786.1  FAST kinase domain-containing protein 1, mitochondrial isoform X1

    4. XM_047445831.1 → XP_047301787.1  FAST kinase domain-containing protein 1, mitochondrial isoform X2

    5. XM_017004911.3 → XP_016860400.1  FAST kinase domain-containing protein 1, mitochondrial isoform X4

      UniProtKB/Swiss-Prot
      Q53R41
      Conserved Domains (3) summary
      smart00952
      Location:607 → 666
      RAP; This domain is found in various eukaryotic species, particularly in apicomplexans
      pfam06743
      Location:403 → 470
      FAST_1; FAST kinase-like protein, subdomain 1
      pfam08368
      Location:490 → 570
      FAST_2; FAST kinase-like protein, subdomain 2

    6. XM_017004912.3 → XP_016860401.1  FAST kinase domain-containing protein 1, mitochondrial isoform X6

    7. XM_006712751.5 → XP_006712814.1  FAST kinase domain-containing protein 1, mitochondrial isoform X5

      Conserved Domains (3) summary
      smart00952
      Location:459 → 518
      RAP; This domain is found in various eukaryotic species, particularly in apicomplexans
      pfam06743
      Location:255 → 322
      FAST_1; FAST kinase-like protein, subdomain 1
      pfam08368
      Location:342 → 422
      FAST_2; FAST kinase-like protein, subdomain 2

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060926.1 Alternate T2T-CHM13v2.0

      Range
      170005739..170051227 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054343909.1 → XP_054199884.1  FAST kinase domain-containing protein 1, mitochondrial isoform X1

    2. XM_054343912.1 → XP_054199887.1  FAST kinase domain-containing protein 1, mitochondrial isoform X3

    3. XM_054343910.1 → XP_054199885.1  FAST kinase domain-containing protein 1, mitochondrial isoform X1

    4. XM_054343911.1 → XP_054199886.1  FAST kinase domain-containing protein 1, mitochondrial isoform X2

    5. XM_054343913.1 → XP_054199888.1  FAST kinase domain-containing protein 1, mitochondrial isoform X4

    6. XM_054343915.1 → XP_054199890.1  FAST kinase domain-containing protein 1, mitochondrial isoform X6

    7. XM_054343914.1 → XP_054199889.1  FAST kinase domain-containing protein 1, mitochondrial isoform X5

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q53R41.1 GenPept UniProtKB/Swiss-Prot:Q53R41

    Gene LinkOut

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

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