This gene encodes a member of a small family of Fas-activated serine/threonine kinase domain (FASTKD) containing proteins that share an amino terminal mitochondrial targeting domain and multiple carboxy terminal FAST domains as well as a putative RNA-binding RAP domain. The members of this family are ubiquitously expressed and are generally most abundant in mitochondria-enriche... See more...

Aliases for FASTKD3 Gene

Aliases for FASTKD3 Gene

  • FAST Kinase Domains 3 2 3 5
  • FAST Kinase Domain-Containing Protein 3, Mitochondrial 3 4
  • FLJ23274 2
  • FASTKD3 5
  • MGC5297 2

External Ids for FASTKD3 Gene

Summaries for FASTKD3 Gene

Entrez Gene Summary for FASTKD3 Gene

  • This gene encodes a member of a small family of Fas-activated serine/threonine kinase domain (FASTKD) containing proteins that share an amino terminal mitochondrial targeting domain and multiple carboxy terminal FAST domains as well as a putative RNA-binding RAP domain. The members of this family are ubiquitously expressed and are generally most abundant in mitochondria-enriched tissues such as heart, skeletal muscle and brown-adipose tissue. Some members of this protein family may play a role in apoptosis. The protein encoded by this gene interacts with components of the mitochondrial respiratory and translation networks. A pseudogene of this gene is also present on chromosome 5. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2013]

GeneCards Summary for FASTKD3 Gene

FASTKD3 (FAST Kinase Domains 3) is a Protein Coding gene. Diseases associated with FASTKD3 include Sengers Syndrome. Gene Ontology (GO) annotations related to this gene include protein kinase activity. An important paralog of this gene is FASTKD1.

UniProtKB/Swiss-Prot Summary for FASTKD3 Gene

  • Required for normal mitochondrial respiration (PubMed:20869947). Increases steady-state levels and half-lives of a subset of mature mitochondrial mRNAs MT-ND2, MT-ND3, MT-CYTB, MT-CO2, and MT-ATP8/6. Promotes MT-CO1 mRNA translation and increases mitochondrial complex IV assembly and activity (PubMed:27789713).

Additional gene information for FASTKD3 Gene

No data available for CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for FASTKD3 Gene

Genomics for FASTKD3 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for FASTKD3 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH05J007867 Promoter/Enhancer 2 EPDnew Ensembl ENCODE CraniofacialAtlas 606.9 -0.3 -277 3.4 SP1 HNRNPL CREB1 GATAD2A PRDM10 ZNF629 ZNF692 POLR2A BACH1 FOS MTRR FASTKD3 HSALNG0039971 lnc-FASTKD3-2 MIR4458HG lnc-MTRR-9
GH05J007857 Enhancer 0.6 Ensembl 6.5 +10.7 10736 1 NFE2 ZNF316 MAFG MAFK DPF2 NFE2L2 BRF2 SMARCA4 MAFF E2F7 MTRR FASTKD3 piR-55431 lnc-MTRR-7 lnc-FASTKD3-2
GH05J007877 Enhancer 1.1 FANTOM5 ENCODE 0.4 -10.0 -9985 2.1 CEBPG GATAD2A REST JUND RELA IKZF2 SP1 GABPA CEBPA ATF7 MTRR MIR4458HG FASTKD3 HSALNG0039971 lnc-MTRR-9
GH05J007871 Enhancer 0.6 ENCODE 0.7 -2.9 -2880 1.1 PRDM10 TCF12 RUNX3 NR2F1 HDAC2 ATF2 TBX21 KDM1A GFI1B HDAC1 C5orf49 MTRR HSALNG0039971 FASTKD3 lnc-MTRR-9
GH05J007872 Promoter 0.4 Ensembl 0.7 -4.1 -4064 0.2 EED C5orf49 MTRR HSALNG0039971 FASTKD3 lnc-MTRR-9
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around FASTKD3 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for FASTKD3

Top Transcription factor binding sites by QIAGEN in the FASTKD3 gene promoter:
  • COUP
  • COUP-TF
  • COUP-TF1
  • HNF-4alpha1
  • HNF-4alpha2
  • Nkx3-1
  • Nkx3-1 v1
  • POU2F1
  • POU2F1a
  • TBP

Genomic Locations for FASTKD3 Gene

Genomic Locations for FASTKD3 Gene
chr5:7,859,159-7,869,037
(GRCh38/hg38)
Size:
9,879 bases
Orientation:
Minus strand
chr5:7,859,272-7,869,150
(GRCh37/hg19)
Size:
9,879 bases
Orientation:
Minus strand

Genomic View for FASTKD3 Gene

Genes around FASTKD3 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
FASTKD3 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for FASTKD3 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for FASTKD3 Gene

Proteins for FASTKD3 Gene

  • Protein details for FASTKD3 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q14CZ7-FAKD3_HUMAN
    Recommended name:
    FAST kinase domain-containing protein 3, mitochondrial
    Protein Accession:
    Q14CZ7
    Secondary Accessions:
    • Q9BVD3

    Protein attributes for FASTKD3 Gene

    Size:
    662 amino acids
    Molecular mass:
    75689 Da
    Quaternary structure:
    No Data Available

neXtProt entry for FASTKD3 Gene

Post-translational modifications for FASTKD3 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for FASTKD3 Gene

No data available for DME Specific Peptides for FASTKD3 Gene

Domains & Families for FASTKD3 Gene

Gene Families for FASTKD3 Gene

HGNC:
Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for FASTKD3 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for FASTKD3 Gene

GenScript: Design optimal peptide antigens:
  • FAST kinase domain-containing protein 3 (FAKD3_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q14CZ7

UniProtKB/Swiss-Prot:

FAKD3_HUMAN :
  • RAP domain is required for FASTKD3 function in mRNA stability and translation.
  • Belongs to the FAST kinase family.
Domain:
  • RAP domain is required for FASTKD3 function in mRNA stability and translation.
Family:
  • Belongs to the FAST kinase family.
genes like me logo Genes that share domains with FASTKD3: view

Function for FASTKD3 Gene

Molecular function for FASTKD3 Gene

UniProtKB/Swiss-Prot Function:
Required for normal mitochondrial respiration (PubMed:20869947). Increases steady-state levels and half-lives of a subset of mature mitochondrial mRNAs MT-ND2, MT-ND3, MT-CYTB, MT-CO2, and MT-ATP8/6. Promotes MT-CO1 mRNA translation and increases mitochondrial complex IV assembly and activity (PubMed:27789713).

Phenotypes From GWAS Catalog for FASTKD3 Gene

Gene Ontology (GO) - Molecular Function for FASTKD3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003723 RNA binding HDA 22658674
GO:0004672 protein kinase activity IEA --
GO:0005515 protein binding IPI 25416956
genes like me logo Genes that share ontologies with FASTKD3: view
genes like me logo Genes that share phenotypes with FASTKD3: view

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for FASTKD3

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for FASTKD3 Gene

Localization for FASTKD3 Gene

Subcellular locations from UniProtKB/Swiss-Prot for FASTKD3 Gene

Mitochondrion.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for FASTKD3 gene
Compartment Confidence
mitochondrion 5
nucleus 4
cytosol 1
peroxisome 0

Subcellular locations from the

Human Protein Atlas (HPA)
  • Mitochondria (3)
  • Nucleoplasm (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for FASTKD3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005654 nucleoplasm IDA --
GO:0005739 mitochondrion IDA 20869947
genes like me logo Genes that share ontologies with FASTKD3: view

Pathways & Interactions for FASTKD3 Gene

PathCards logo

SuperPathways for FASTKD3 Gene

No Data Available

Gene Ontology (GO) - Biological Process for FASTKD3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006468 protein phosphorylation IEA --
GO:0033617 mitochondrial respiratory chain complex IV assembly IDA 27789713
GO:0044528 regulation of mitochondrial mRNA stability IDA 27789713
GO:0070131 positive regulation of mitochondrial translation IDA 27789713
genes like me logo Genes that share ontologies with FASTKD3: view

No data available for Pathways by source and SIGNOR curated interactions for FASTKD3 Gene

Drugs & Compounds for FASTKD3 Gene

No Compound Related Data Available

Transcripts for FASTKD3 Gene

mRNA/cDNA for FASTKD3 Gene

1 REFSEQ mRNAs :
10 NCBI additional mRNA sequence :
8 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for FASTKD3

Alternative Splicing Database (ASD) splice patterns (SP) for FASTKD3 Gene

ExUns: 1a · 1b ^ 2a · 2b · 2c · 2d · 2e · 2f ^ 3 ^ 4a · 4b ^ 5a · 5b · 5c ^ 6 ^ 7a · 7b · 7c
SP1: - - - - - - -
SP2: - - - - - - - -
SP3: - -
SP4:
SP5: - -
SP6: -
SP7: -

Relevant External Links for FASTKD3 Gene

GeneLoc Exon Structure for
FASTKD3

Expression for FASTKD3 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for FASTKD3 Gene

Protein differential expression in normal tissues from HIPED for FASTKD3 Gene

This gene is overexpressed in Fetal gut (43.5) and Bone (25.3).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for FASTKD3 Gene



Protein tissue co-expression partners for FASTKD3 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for FASTKD3

SOURCE GeneReport for Unigene cluster for FASTKD3 Gene:

Hs.653162

mRNA Expression by UniProt/SwissProt for FASTKD3 Gene:

Q14CZ7-FAKD3_HUMAN
Tissue specificity: Expression detected in spleen, thymus, testis, ovary, colon, heart, smooth muscle, kidney, brain, lung, liver and white adipose tissue with highest expression in liver and thyroid.

Evidence on tissue expression from TISSUES for FASTKD3 Gene

  • Nervous system(4.1)
genes like me logo Genes that share expression patterns with FASTKD3: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer for FASTKD3 Gene

Orthologs for FASTKD3 Gene

This gene was present in the common ancestor of chordates.

Orthologs for FASTKD3 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia FASTKD3 30 31
  • 99.4 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia FASTKD3 30 31
  • 80.88 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia FASTKD3 30 31
  • 80.58 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Fastkd3 30
  • 77.04 (n)
Mouse
(Mus musculus)
Mammalia Fastkd3 30 17 31
  • 74.15 (n)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia FASTKD3 31
  • 56 (a)
OneToOne
Chicken
(Gallus gallus)
Aves FASTKD3 30 31
  • 62.76 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia FASTKD3 31
  • 48 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia fastkd3 30
  • 58.78 (n)
African clawed frog
(Xenopus laevis)
Amphibia Xl.19038 30
Zebrafish
(Danio rerio)
Actinopterygii fastkd3 30 31
  • 51.93 (n)
OneToOne
Species where no ortholog for FASTKD3 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Baker's yeast (Saccharomyces cerevisiae)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Fruit Fly (Drosophila melanogaster)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Platypus (Ornithorhynchus anatinus)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Squirt (Ciona savignyi)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)
  • Worm (Caenorhabditis elegans)

Evolution for FASTKD3 Gene

ENSEMBL:
Gene Tree for FASTKD3 (if available)
TreeFam:
Gene Tree for FASTKD3 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for FASTKD3: view image

Paralogs for FASTKD3 Gene

Paralogs for FASTKD3 Gene

Pseudogenes.org Pseudogenes for FASTKD3 Gene

genes like me logo Genes that share paralogs with FASTKD3: view

Variants for FASTKD3 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for FASTKD3 Gene

SNP ID Clinical significance and condition Chr 05 pos Variation AA Info Type
771859 Benign: not provided 7,866,788(-) C/A SYNONYMOUS_VARIANT
790563 Benign: not provided 7,866,709(-) C/G MISSENSE_VARIANT
VAR_036161 A breast cancer sample p.Leu22Val
rs16879259 - p.Glu459Gly
rs2966952 - p.Lys56Arg

Additional dbSNP identifiers (rs#s) for FASTKD3 Gene

Structural Variations from Database of Genomic Variants (DGV) for FASTKD3 Gene

Variant ID Type Subtype PubMed ID
esv3304082 CNV mobile element insertion 20981092
esv3310380 CNV mobile element insertion 20981092
esv3420263 CNV insertion 20981092
esv3425786 CNV insertion 20981092
nsv597003 CNV gain 21841781
nsv597005 CNV gain 21841781

Variation tolerance for FASTKD3 Gene

Residual Variation Intolerance Score: 44.1% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 4.47; 64.26% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for FASTKD3 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
FASTKD3

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for FASTKD3 Gene

Disorders for FASTKD3 Gene

MalaCards: The human disease database

(1) MalaCards diseases for FASTKD3 Gene - From: GeneCards

Disorder Aliases PubMed IDs
sengers syndrome
  • mitochondrial dna depletion syndrome 10 ; mtdps10
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for FASTKD3

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
genes like me logo Genes that share disorders with FASTKD3: view

No data available for UniProtKB/Swiss-Prot and Genatlas for FASTKD3 Gene

Publications for FASTKD3 Gene

  1. Role of FAST Kinase Domains 3 (FASTKD3) in Post-transcriptional Regulation of Mitochondrial Gene Expression. (PMID: 27789713) Boehm E … Simarro M (The Journal of biological chemistry 2016) 2 3 4
  2. Fast kinase domain-containing protein 3 is a mitochondrial protein essential for cellular respiration. (PMID: 20869947) Simarro M … Anderson P (Biochemical and biophysical research communications 2010) 3 4
  3. Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study. (PMID: 20628086) Bailey SD … DREAM investigators (Diabetes care 2010) 3 41
  4. Extensive disruption of protein interactions by genetic variants across the allele frequency spectrum in human populations. (PMID: 31515488) Fragoza R … Yu H (Nature communications 2019) 3
  5. Architecture of the human interactome defines protein communities and disease networks. (PMID: 28514442) Huttlin EL … Harper JW (Nature 2017) 3

Products for FASTKD3 Gene

  • Signalway Proteins for FASTKD3

Sources for FASTKD3 Gene