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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

FASTKD1 Gene

protein-coding   GIFtS: 49
GCID: GC02M170386

FAST kinase domains 1
 Explore 2 diseases affiliated with
FASTKD1 via
MalaCards
our new
 Human Malady Compendium 
Biological research products
for FASTKD1    

Aliases
for FASTKD1 gene

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section
Aliases
FAST Kinase Domains 11 2
FLJ219011
FAST Kinase Domain-Containing Protein 12
KIAA18003

External Ids:    HGNC: 261501   Entrez Gene: 796752   Ensembl: ENSG000001383997   UniProtKB: Q53R413   

Export aliases for FASTKD1 gene to outside databases

Previous GC identifers: GC02M170094 GC02M162276


Summaries
for FASTKD1 gene

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section
  --

Genomic Views
for FASTKD1 gene

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000002.11  NC_018913.1  NT_005403.17  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the FASTKD1 gene promoter:
         AhR   C/EBPbeta   Sp1   AP-1   ATF-2   Nkx2-5   c-Jun   Evi-1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: FASTKD1 promoter sequence
   Search SABiosciences Chromatin IP Primers for FASTKD1

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat FASTKD1


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 2q31   Ensembl cytogenetic band:  2q31.1   HGNC cytogenetic band: 2q31.1

FASTKD1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
FASTKD1 gene location

GeneLoc information about chromosome 2         GeneLoc Exon Structure

GeneLoc location for GC02M170386:  view genomic region     (about GC identifiers)

Start:
 170,386,259 bp from pter      End:
 170,430,424 bp from pter
Size:
 44,166 bases      Orientation:
 minus strand

Proteins
for FASTKD1 gene

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section
UniProtKB/Swiss-Prot: FAKD1_HUMAN, Q53R41 (See protein sequence)
Recommended Name: FAST kinase domain-containing protein 1  
Size: 847 amino acids; 97411 Da
Caution: It is uncertain whether Met-1 or Met-15 is the initiator
Sequence caution: Sequence=AAH32687.1; Type=Erroneous initiation; Sequence=BAB15168.1; Type=Erroneous initiation;
Secondary accessions: Q8N583 Q8TEA9 Q96JM5 Q96N71 Q9H6T4
Alternative splicing: 2 isoforms:  Q53R41-1   Q53R41-2   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for FASTKD1: NX_Q53R41

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q53R41

    • FASTKD1 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins: NP_078898.3  
    ENSEMBL proteins: 
     ENSP00000400513   ENSP00000403229   ENSP00000408667   ENSP00000396769   ENSP00000399551  

    Human Recombinant Protein Products: 
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    Browse Sino Biological Recombinant Proteins
    Browse ProSpec Recombinant Proteins
    Uscn Proteins for FASTKD1

    Gene Ontology (GO): 1 cellular component term (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005739mitochondrion IDA--


    FASTKD1 for ontologies           About GeneDecksing



    FASTKD1 Antibody Products: 
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    Uscn ELISAs and CLIAs for FASTKD1

    Protein Domains /
    Families
    for FASTKD1 gene

    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    FASTKD1 for domains           About GeneDecksing

    3 InterPro domains/families:
     IPR010622 FAST_Leu-rich
     IPR013584 RAP
     IPR013579 FAST_2

    Graphical View of Domain Structure for InterPro Entry Q53R41

    ProtoNet protein and cluster: Q53R41

    UniProtKB/Swiss-Prot: FAKD1_HUMAN, Q53R41
    Similarity: Belongs to the FAST kinase family
    Similarity: Contains 1 RAP domain


    Function
    for FASTKD1 gene

    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section
    miRNA
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    Browse SwitchGear 3'UTR luciferase reporter plasmids
    Inhib. RNA
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    OriGene shRNA RFP: FASTKD1
    OriGene siRNA: FASTKD1
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    Gene Editing
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    Clone
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    Cell Line
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    Search LifeMap BioReagents cell lines for FASTKD1

    In Situ Assay
    Products:       
         		Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for FASTKD1

    Gene Ontology (GO): 1 molecular function term (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004672protein kinase activity IEA--


    FASTKD1 for ontologies           About GeneDecksing


    3 GenomeRNAi human phenotypes for FASTKD1:
     Decreased viability with pacli  Downregulation of NF-kappaB pa  Downregulation of NF-kappaB pa 


    Pathways & Interactions
    for FASTKD1 gene

    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
    About This Section



    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for FASTKD1

    STRING Interaction Network Preview (showing 2 interactants - click image to see more details)

    5/231 Interacting proteins for FASTKD1 (Q53R412, 3 ENSP000004005134) via UniProtKB, MINT, STRING, and/or I2D (see all 231)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    MYCP011063, ENSP000003672074I2D: score=1 STRING: ENSP00000367207
    ICT1Q141972, ENSP000003015854MINT-8079030 STRING: ENSP00000301585
    AARS2Q5JTZ92MINT-8079030
    AASSQ9UDR52MINT-8079030
    ABCB7O750272MINT-8079030
    About this table

    Gene Ontology (GO): 1 biological process term (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0045333cellular respiration ISS--


    FASTKD1 for ontologies           About GeneDecksing



    Drugs & Compounds
    for FASTKD1 gene

    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section
    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for FASTKD1
    Search CenterWatch for drugs/clinical trials and news about FASTKD1 / FAKD1 

    Transcripts
    for FASTKD1 gene

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section
    REFSEQ mRNAs for FASTKD1 gene: 
    NM_024622.3  

    Unigene Cluster for FASTKD1:

    FAST kinase domains 1
    Hs.529276  [show with all ESTs]
    Unigene Representative Sequence: AB058703
    10 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000453153(uc002uev.4 uc002uew.4 uc002uex.4 uc002uey.2)
    ENST00000490590 ENST00000453929 ENST00000495505 ENST00000488951 ENST00000488516
    ENST00000487293 ENST00000417376 ENST00000438035 ENST00000445210

    miRNA
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    Browse SwitchGear 3'UTR luciferase reporter plasmids
    Inhib. RNA
    Products:             		Browse for Gene Knock-down Tools from EMD Millipore
    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for FASTKD1 (see all 4)
    OriGene shRNA RFP: FASTKD1
    OriGene siRNA: FASTKD1
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat FASTKD1
    Clone
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    OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for FASTKD1 (see all 3)
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    Additional cDNA sequence: 

    AB058703.1 AK025554.1 AK055892.1 AK074302.1 AK130797.1 AK225293.1 AL832058.1 BC017950.1 
    BC032687.2 BC035241.1 

    14 DOTS entries:

    DT.454831  DT.101982071  DT.100790135  DT.95272076  DT.100790138  DT.86838987  DT.101982070  DT.95272079 
    DT.40261190  DT.121010009  DT.95254519  DT.121009941  DT.95151215  DT.91968474 

    24/126 AceView cDNA sequences (see all 126):

    BM725053 AI078599 AI921062 BM983746 BI715204 AA761904 AI990547 CA449468 
    BX380604 BC035241 AI351463 BM930885 BU509646 BQ441801 AA043852 AW296824 
    AK055892 AA253370 AI870699 CR595728 BU738856 AI638645 AA916409 AI222688 

    GeneLoc Exon Structure

    5/7 Alternative Splicing Database (ASD) splice patterns (SP) for FASTKD1 (see all 7)    About this scheme

    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:                                      -     -     -                                                                                             


    ECgene alternative splicing isoforms for FASTKD1

    Expression
    for FASTKD1 gene

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    FASTKD1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: TTTGTAGTTT

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)
    About this image

    FASTKD1 expression in embryonic tissues and stem cells
    Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine    About this table
    1 LifeMap In Vivo Development Anatomical Compartment/Cell 
    Tissue Anatomical Compartment CellCategory (developmental path)
    TestisSeminiferous TubulesSecondary SpermatocyteGerm Cells, Male Gametocytes
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization

    See FASTKD1 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for FASTKD1

    SOURCE GeneReport for Unigene cluster: Hs.529276
        SABiosciences Custom PCR Arrays for FASTKD1
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    In Situ
    Assay Products:     
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    Orthologs
    for FASTKD1 gene

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section
    This gene was present in the common ancestor of animals.

    Orthologs for FASTKD1 gene from 5/14 species (see all 14)    About this table
    Organism Taxonomic
    classification    		 Gene Description Human
    Similarity    		 Orthology
    Type    		 Details
    chicken
    (Gallus gallus)    		 Aves FASTKD11 FAST kinase domains 1 60.15(n)
    46.97(a)    		   424163  XM_422009.3  XP_422009.3 
    lizard
    (Anolis carolinensis)    		 Reptilia --
    --
    		 --
    		 47(a)
    46(a)
    		 1 ↔ many
    1 ↔ many
    		 GL343362.1(426865-451336)
    AAWZ02038942(156-9371)
    African clawed frog
    (Xenopus laevis)    		 Amphibia Xl.194892 Xenopus laevis transcribed sequence with weak similarity more 73.36(n)    BJ077272.1 
    zebrafish
    (Danio rerio)    		 Actinopterygii fastkd11 FAST kinase domains 1 53.8(n)
    46.08(a)    		   100148546  NM_205629.2  NP_991192.2 
    fruit fly
    (Drosophila melanogaster)    		 Insecta CG316431 CG31643 39.22(n)
    24.08(a)    		   318867  NM_164674.1  NP_723145.1 


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

    Paralogs
    for FASTKD1 gene

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for FASTKD1 gene
    FASTK2  TBRG42  FASTKD32  
    1 SIMAP similar gene for FASTKD1 using alignment to 5 protein entries:     FAKD1_HUMAN (see all proteins):
    FLJ21901

    FASTKD1 for paralogs           About GeneDecksing


    1 Pseudogenes.org Pseudogene for FASTKD1
    PGOHUM00000235697


    Genomic Variants
    for FASTKD1 gene

    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/802 NCBI SNPs in FASTKD1 are shown (see all 802)     About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance    		Chr 2 posSequence#AA
    Chg    		TypeMore#Allele
    freq    		PopTotal
    sample    		More
    ----------
    rs1882029711,2
    		--170385840(+) CAGTGA/GGCAAA 1 -- int10--------
    rs1807293491,2
    		--170386140(+) ATCTCC/TTATCT 1 -- int10--------
    rs1462967091,2
    		--170386150(+) TTTTCC/TCTTAT 1 -- int10--------
    rs73492741,2
    		C,F,H,--170386294(+) AATAGG/ATCCAA 1 -- ut3120Minor allele frequency- A:0.11NS EA NA CSA 2436
    rs2019707371,2
    		--170386310(+) ACACAC/TGATAA 1 -- ut310--------
    rs1510347351,2
    		C,--170386346(+) ACATGA/GCTTGA 2 P S mis11Minor allele frequency- G:0.00NA 4540
    rs1492156191,2
    		C,F--170386400(+) CTTTGT/CTGACA 2 /T /A mis11Minor allele frequency- C:0.00NA 4550
    rs2002712001,2
    		--170386426(+) ATTCAA/GACTGG 2 S F mis10--------
    rs21665771,2
    		C,F,A,H,--170386678(+) CTACAT/CAGTCT 1 -- int118Minor allele frequency- C:0.33NS EA NA WA 2342
    rs1427856951,2
    		--170386757(+) AGATAC/TAGAAA 1 -- int10--------

    HapMap Linkage Disequilibrium report for FASTKD1 (170386259 - 170430424 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
          Database of Genomic Variants (DGV) variations for FASTKD1: --

    SABiosciences Cancer Mutation PCR Assays
    QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing FASTKD1
    DNA2.0 Custom Variant and Variant Library Synthesis for FASTKD1

    Disorders / Diseases
    for FASTKD1 gene

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    FASTKD1 for disorders           About GeneDecksing

    2 diseases for FASTKD1:    About MalaCards
    mitochondrial encephalomyopathy    encephalomyopathy

    1 disease from the University of Copenhagen DISEASES database for FASTKD1:
    Mitochondrial encephalomyopathy

    Export disorders for FASTKD1 gene to outside databases

    Publications
    for FASTKD1 gene

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for FASTKD1 gene integrated from 9 sources:
    (articles sorted by number of sources associating them with FASTKD1)    		    Utopia: connect your pdf to the dynamic
    world of online information

    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. (PubMed id 11347906)1, 2, 3 Nagase T.... Ohara O. (2001)
    2. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
    3. Methods for quantification of in vivo changes in prote in ubiquitination following proteasome and deubiquitinase inhibition. (PubMed id 22505724)1 Udeshi N.D....Carr S.A. (2012)
    4. Lysine acetylation targets protein complexes and co-regulates major cellular functions. (PubMed id 19608861)2 Choudhary C.... Mann M. (2009)
    5. Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes. (PubMed id 16344560)1 Kimura K.... Sugano S. (2006)
    6. Generation and annotation of the DNA sequences of human chromosomes 2 and 4. (PubMed id 15815621)2 Hillier L.W....Wilson R.K. (2005)
    7. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)2 Gerhard D.S....Malek J. (2004)
    8. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PubMed id 12477932)1 Strausberg R.L....Marra M.A. (2002)
    9. Normalization and subtraction: two approaches to facilitate gene discovery. (PubMed id 8889548)1 Bonaldo M.F.... Soares M.B. (1996)

    External Searches for FASTKD1 gene

    (in PubMed, OMIM, and NCBI Bookshelf)
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    Genome Databases showing FASTKD1 gene

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 79675 HGNC: 26150 AceView: FLJ21901 Ensembl:ENSG00000138399 euGenes: HUgn79675
    ECgene: FASTKD1 H-InvDB: FASTKD1

    Other Databases showing FASTKD1 gene

    (According to HUGE)
    About This Section
    HUGE: KIAA1800

    Specialized Databases showing FASTKD1 gene

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for FASTKD1 Pharmacogenomics, SNPs, Pathways

    Intellectual Property
    for FASTKD1 gene

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    		Patent Information for FASTKD1 gene:
    Search GeneIP for patents involving FASTKD1

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