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

Gene ID: 79675, updated on 5-Mar-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, Apr 2022]
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_2023_10 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (169528508..169573865, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (170005739..170051227, complement)
105.20220307 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
  • 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 (26) 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)

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

  • 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 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_2023_10

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

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