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Aliases for FASTKD1 Gene

Aliases for FASTKD1 Gene

  • FAST Kinase Domains 1 2 3 5
  • KIAA1800 4

External Ids for FASTKD1 Gene

Previous GeneCards Identifiers for FASTKD1 Gene

  • GC02M170094
  • GC02M170386
  • GC02M162276

Summaries for FASTKD1 Gene

GeneCards Summary for FASTKD1 Gene

FASTKD1 (FAST Kinase Domains 1) is a Protein Coding gene. Gene Ontology (GO) annotations related to this gene include protein kinase activity. An important paralog of this gene is FASTKD3.

Additional gene information for FASTKD1 Gene

No data available for Entrez Gene Summary , CIViC summary , UniProtKB/Swiss-Prot , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for FASTKD1 Gene

Genomics for FASTKD1 Gene

GeneHancer (GH) Regulatory Elements for FASTKD1 Gene

Promoters and enhancers for FASTKD1 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
GH02I169572 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 569.6 +0.4 351 1.9 HDGF PKNOX1 FOXA2 MLX ARNT ARID4B SIN3A DMAP1 ZNF2 IRF4 FASTKD1 PHOSPHO2 KLHL23 GC02M169527
GH02I169583 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 15.9 -11.2 -11230 2.9 MLX FEZF1 DMAP1 IRF4 YY1 SLC30A9 E2F8 ZNF143 SP3 MEF2D PPIG GC02M169582 PHOSPHO2 FASTKD1 CCDC173 SSB GC02P169639
GH02I169693 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 17.2 -120.9 -120892 2.7 HDGF PKNOX1 SMAD1 FOXA2 ARID4B SIN3A DMAP1 ZBTB7B YY1 SLC30A9 PHOSPHO2 CCDC173 KLHL23 PHOSPHO2-KLHL23 FASTKD1 SSB GC02P169728
GH02I169715 Promoter/Enhancer 1.7 EPDnew Ensembl ENCODE 18.4 -142.6 -142639 2.8 FOXA2 MLX ARNT ARID4B DMAP1 YY1 SLC30A9 SP5 MXD4 ZNF592 PHOSPHO2 FASTKD1 CCDC173 ENSG00000229827 GC02P169728 KLHL23 PHOSPHO2-KLHL23
GH02I169477 Promoter/Enhancer 2 EPDnew Ensembl ENCODE 9.4 +94.7 94678 2.7 MLX ZFP64 ARID4B SIN3A DMAP1 ZNF2 YY1 SLC30A9 ZNF213 E2F8 BBS5 ENSG00000251569 PHOSPHO2 FASTKD1 KLHL23
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around FASTKD1 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the FASTKD1 gene promoter:

Genomic Locations for FASTKD1 Gene

Genomic Locations for FASTKD1 Gene
chr2:169,527,880-169,573,921
(GRCh38/hg38)
Size:
46,042 bases
Orientation:
Minus strand
chr2:170,386,259-170,430,424
(GRCh37/hg19)

Genomic View for FASTKD1 Gene

Genes around FASTKD1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
FASTKD1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for FASTKD1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for FASTKD1 Gene

Proteins for FASTKD1 Gene

  • Protein details for FASTKD1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q53R41-FAKD1_HUMAN
    Recommended name:
    FAST kinase domain-containing protein 1, mitochondrial
    Protein Accession:
    Q53R41
    Secondary Accessions:
    • Q8N583
    • Q8TEA9
    • Q96JM5
    • Q96N71
    • Q9H6T4

    Protein attributes for FASTKD1 Gene

    Size:
    847 amino acids
    Molecular mass:
    97411 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=AAH32687.1; Type=Erroneous initiation; Evidence={ECO:0000305}; Sequence=BAB15168.1; Type=Erroneous initiation; Evidence={ECO:0000305};

    Alternative splice isoforms for FASTKD1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for FASTKD1 Gene

Post-translational modifications for FASTKD1 Gene

No data available for DME Specific Peptides for FASTKD1 Gene

Domains & Families for FASTKD1 Gene

Gene Families for FASTKD1 Gene

Protein Domains for FASTKD1 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for FASTKD1 Gene

Graphical View of Domain Structure for InterPro Entry

Q53R41

UniProtKB/Swiss-Prot:

FAKD1_HUMAN :
  • Belongs to the FAST kinase family.
Family:
  • Belongs to the FAST kinase family.
genes like me logo Genes that share domains with FASTKD1: view

Function for FASTKD1 Gene

Gene Ontology (GO) - Molecular Function for FASTKD1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003723 RNA binding HDA 22658674
GO:0004672 protein kinase activity IEA --
genes like me logo Genes that share ontologies with FASTKD1: view
genes like me logo Genes that share phenotypes with FASTKD1: view

miRNA for FASTKD1 Gene

miRTarBase miRNAs that target FASTKD1

Clone Products

No data available for Molecular function , Enzyme Numbers (IUBMB) , Phenotypes From GWAS Catalog , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for FASTKD1 Gene

Localization for FASTKD1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for FASTKD1 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 FASTKD1 gene
Compartment Confidence
mitochondrion 5
nucleus 3
golgi apparatus 2
plasma membrane 1
peroxisome 1
cytosol 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for FASTKD1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005739 mitochondrion IEA,IDA 20869947
genes like me logo Genes that share ontologies with FASTKD1: view

Pathways & Interactions for FASTKD1 Gene

SuperPathways for FASTKD1 Gene

No Data Available

Interacting Proteins for FASTKD1 Gene

Gene Ontology (GO) - Biological Process for FASTKD1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000959 mitochondrial RNA metabolic process IMP 28335001
GO:0006468 protein phosphorylation IEA --
GO:0044528 regulation of mitochondrial mRNA stability IMP 28335001
GO:0045333 cellular respiration ISS 20869947
genes like me logo Genes that share ontologies with FASTKD1: view

No data available for Pathways by source and SIGNOR curated interactions for FASTKD1 Gene

Drugs & Compounds for FASTKD1 Gene

No Compound Related Data Available

Transcripts for FASTKD1 Gene

Unigene Clusters for FASTKD1 Gene

FAST kinase domains 1:
Representative Sequences:

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for FASTKD1 Gene

ExUns: 1a · 1b · 1c ^ 2a · 2b · 2c ^ 3 ^ 4 ^ 5a · 5b ^ 6a · 6b · 6c · 6d ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16
SP1: - -
SP2: - - -
SP3: - - -
SP4: -
SP5: - - -
SP6:
SP7:

Relevant External Links for FASTKD1 Gene

GeneLoc Exon Structure for
FASTKD1
ECgene alternative splicing isoforms for
FASTKD1

Expression for FASTKD1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for FASTKD1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for FASTKD1 Gene

This gene is overexpressed in Heart - Left Ventricle (x4.2).

Protein differential expression in normal tissues from HIPED for FASTKD1 Gene

This gene is overexpressed in Nasal epithelium (35.4) and Bone (31.4).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for FASTKD1 Gene



NURSA nuclear receptor signaling pathways regulating expression of FASTKD1 Gene:

FASTKD1

SOURCE GeneReport for Unigene cluster for FASTKD1 Gene:

Hs.529276

mRNA Expression by UniProt/SwissProt for FASTKD1 Gene:

Q53R41-FAKD1_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 heart.

Evidence on tissue expression from TISSUES for FASTKD1 Gene

  • Nervous system(4.4)
  • Eye(4.1)
genes like me logo Genes that share expression patterns with FASTKD1: view

No data available for Protein tissue co-expression partners and Phenotype-based relationships between genes and organs from Gene ORGANizer for FASTKD1 Gene

Orthologs for FASTKD1 Gene

This gene was present in the common ancestor of animals.

Orthologs for FASTKD1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia FASTKD1 34 33
  • 99.59 (n)
OneToOne
dog
(Canis familiaris)
Mammalia FASTKD1 34 33
  • 85.8 (n)
OneToOne
cow
(Bos Taurus)
Mammalia FASTKD1 34 33
  • 85.64 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Fastkd1 16 34 33
  • 76.33 (n)
rat
(Rattus norvegicus)
Mammalia Fastkd1 33
  • 75.69 (n)
oppossum
(Monodelphis domestica)
Mammalia FASTKD1 34
  • 57 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 34
  • 54 (a)
OneToMany
-- 34
  • 50 (a)
OneToMany
chicken
(Gallus gallus)
Aves FASTKD1 34 33
  • 60.11 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia -- 34
  • 48 (a)
OneToMany
-- 34
  • 46 (a)
OneToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia fastkd1 33
  • 58.5 (n)
Str.3931 33
African clawed frog
(Xenopus laevis)
Amphibia Xl.19489 33
zebrafish
(Danio rerio)
Actinopterygii fastkd1 34 33
  • 53.8 (n)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta CG31643 34
  • 16 (a)
OneToOne
Species where no ortholog for FASTKD1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya 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)
  • 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)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (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 FASTKD1 Gene

ENSEMBL:
Gene Tree for FASTKD1 (if available)
TreeFam:
Gene Tree for FASTKD1 (if available)

Paralogs for FASTKD1 Gene

Paralogs for FASTKD1 Gene

(1) SIMAP similar genes for FASTKD1 Gene using alignment to 5 proteins:

Pseudogenes.org Pseudogenes for FASTKD1 Gene

genes like me logo Genes that share paralogs with FASTKD1: view

Variants for FASTKD1 Gene

Sequence variations from dbSNP and Humsavar for FASTKD1 Gene

SNP ID Clin Chr 02 pos Variation AA Info Type
rs1000060754 -- 169,533,896(-) C/T intron_variant
rs1000072155 -- 169,575,676(-) C/T upstream_transcript_variant
rs1000077641 -- 169,569,708(-) G/T genic_upstream_transcript_variant, intron_variant
rs1000096391 -- 169,556,552(-) G/A intron_variant
rs1000129351 -- 169,569,960(-) C/T genic_upstream_transcript_variant, intron_variant

Structural Variations from Database of Genomic Variants (DGV) for FASTKD1 Gene

Variant ID Type Subtype PubMed ID
dgv4104n100 CNV gain 25217958
dgv7157n54 CNV loss 21841781
esv2660870 CNV deletion 23128226
esv2721114 CNV deletion 23290073
esv3593325 CNV loss 21293372
nsv1011368 CNV loss 25217958
nsv475721 CNV novel sequence insertion 20440878
nsv518894 CNV gain 19592680
nsv583603 CNV loss 21841781

Variation tolerance for FASTKD1 Gene

Residual Variation Intolerance Score: 92.1% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 4.42; 63.89% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for FASTKD1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
FASTKD1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for FASTKD1 Gene

Disorders for FASTKD1 Gene

Additional Disease Information for FASTKD1

No disorders were found for FASTKD1 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for FASTKD1 Gene

Publications for FASTKD1 Gene

  1. 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. (PMID: 11347906) Nagase T … Ohara O (DNA research : an international journal for rapid publication of reports on genes and genomes 2001) 2 3 4 58
  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 58
  3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 58
  4. Architecture of the human interactome defines protein communities and disease networks. (PMID: 28514442) Huttlin EL … Harper JW (Nature 2017) 3 58
  5. The FASTK family of proteins: emerging regulators of mitochondrial RNA biology. (PMID: 29036396) Jourdain AA … Simarro M (Nucleic acids research 2017) 3 58

Products for FASTKD1 Gene

Sources for FASTKD1 Gene

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