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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

FASTKD3 Gene

protein-coding GIFtS: 44
GCID: GC05M007913

FAST kinase domains 3

Explore 2 diseases affiliated with
FASTKD3 via

MalaCards

our new
Human Malady Compendium

(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc, ⁷Ensembl, ⁸DME, ⁹miRBase, and/or ¹⁰fRNAdb)
About This Section

This gene clusters with an RNA gene
Subcategory (RNA class): lncRNA

Quality score for the ORGUL clustered with this gene is 3

Aliases
FAST Kinase Domains 3¹ ²
FLJ23274¹
MGC5297¹
FAST Kinase Domain-Containing Protein 3²

External Ids:	HGNC: 28758¹	Entrez Gene: 79072²	Ensembl: ENSG00000124279⁷	UniProtKB: Q14CZ7³

ORGUL members:
	NONCODE:n410120

Export aliases for FASTKD3 gene to outside databases

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

Entrez Gene summary for FASTKD3:

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)

(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_000005.9 NC_018916.1 NT_006576.16

Regulatory elements:

SABiosciences Regulatory transcription factor binding sites in the FASTKD3 gene promoter:
Nkx3-1 TBP COUP-TF1 COUP Nkx3-1 v1 HNF-4alpha2 HNF-4alpha1 COUP-TF POU2F1 POU2F1a
Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: FASTKD3 promoter sequence

Search SABiosciences Chromatin IP Primers for FASTKD3

Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat FASTKD3

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

Entrez Gene cytogenetic band: 5p15.31 Ensembl cytogenetic band: 5p15.31 HGNC cytogenetic band: 5p15.31

FASTKD3 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
FASTKD3 gene location

GeneLoc information about chromosome 5 GeneLoc Exon Structure

GeneLoc location for GC05M007913: view genomic region (about GC identifiers)

Start:	7,859,272 bp from pter	End:	7,869,150 bp from pter
Size:	9,879 bases	Orientation:	minus strand

(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: FAKD3_HUMAN, Q14CZ7 (See protein sequence)

Recommended Name: FAST kinase domain-containing protein 3

Size: 662 amino acids; 75689 Da

Secondary accessions: Q9BVD3

Explore the universe of human proteins at neXtProt for FASTKD3: NX_Q14CZ7

Post-translational modifications:

View modification sites using PhosphoSitePlus²

View neXtProt modification sites for NX_Q14CZ7

FASTKD3 Protein expression data from MOPED and PaxDb: About this image

REFSEQ proteins: NP_076996.2

ENSEMBL proteins:

ENSP00000264669 ENSP00000424568 ENSP00000421798 ENSP00000426008 ENSP00000422443

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

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005739	mitochondrion	IDA	--

FASTKD3 for ontologies About GeneDecksing

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

FASTKD3 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 Q14CZ7

ProtoNet protein and cluster: Q14CZ7

UniProtKB/Swiss-Prot: FAKD3_HUMAN, Q14CZ7

Similarity: Belongs to the FAST kinase family

Similarity: Contains 1 RAP domain

(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

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

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0004672	protein kinase activity	IEA	--

FASTKD3 for ontologies About GeneDecksing

3 GenomeRNAi human phenotypes for FASTKD3:

Decreased cell number

Decreased viability of wild-ty

Upregulation of NF-kappaB path

(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 Central^TM Interacting Genes and Proteins Networks for FASTKD3

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

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0045333	cellular respiration	IMP	--

FASTKD3 for ontologies About GeneDecksing

(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 FASTKD3
Search CenterWatch for drugs/clinical trials and news about FASTKD3 / FAKD3

(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,
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About This Section

REFSEQ mRNAs for FASTKD3 gene:

NM_024091.3

Unigene Cluster for FASTKD3:

FAST kinase domains 3

Hs.653162 [show with all ESTs]

Unigene Representative Sequence: AK026927

8 Ensembl transcripts including schematic representations, and UCSC links where relevant:

ENST00000264669(uc011cmp.2 uc003jeb.3 uc003jec.3) ENST00000513658

ENST00000282110 ENST00000511261 ENST00000507036 ENST00000513577 ENST00000504695

ENST00000507572

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Additional cDNA sequence:

AF161354.1 AK026927.1 BC001295.1 BC113563.1 BC143517.1 BC143518.1 NR_036553.1

5 DOTS entries:

DT.452488 DT.100751602 DT.92423121 DT.92423122 DT.412473

24/61 AceView cDNA sequences (see all 61):

AI151134 BI964729 BQ050729 AI399857 BU624105 NM_024091 CK903403 BQ921348

AL557123 AA316122 BX478397 AW418744 CD654810 BG615709 AW014916 BG530364

AF161354 BG499460 BX342241 AK026927 BG388682 BG613049 BF591959 BI754398

GeneLoc Exon Structure

5/7 Alternative Splicing Database (ASD) splice patterns (SP) for FASTKD3 (see all 7) About this scheme

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

ECgene alternative splicing isoforms for FASTKD3

(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

FASTKD3 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: TGCTGTAAAG

About this image
See FASTKD3 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for FASTKD3

SOURCE GeneReport for Unigene cluster: Hs.653162

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In Situ
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(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 chordates.

Orthologs for FASTKD3 gene from 5/10 species (see all 10) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
mouse (Mus musculus)	Mammalia	Fastkd3^{1 , 5}	FAST kinase domains 3^{1, 5}	74.15(n)¹ 64.95(a)¹		13 (35.55 cM)⁵ 69577¹ NM_027123.4¹ NP_081399.3¹ 68582248⁵
chicken (Gallus gallus)	Aves	FASTKD3¹	FAST kinase domains 3	62.76(n) 53.33(a)		420932 XM_419017.3 XP_419017.2
lizard (Anolis carolinensis)	Reptilia	FASTKD3⁶	--	51(a)	1 ↔ 1	4(82543127-82554543)
African clawed frog (Xenopus laevis)	Amphibia	Xl.19038²	Xenopus laevis transcribed sequence with weak similarity more	72.96(n)		AW639711.1
zebrafish (Danio rerio)	Actinopterygii	fastkd3¹	FAST kinase domains 3	51.93(n) 45.29(a)		100003734 XM_001338215.3 XP_001338251.1

ENSEMBL Gene Tree for FASTKD3 (if available)
TreeFam Gene Tree for FASTKD3 (if available)

(Paralogs according to ¹HomoloGene,
²Ensembl, and ³SIMAP, Pseudogenes according to ⁴Pseudogene.org Build 68)
About This Section

Paralogs for FASTKD3 gene

FASTK² TBRG4² FASTKD1²

FASTKD3 for paralogs About GeneDecksing

1 Pseudogenes.org Pseudogene for FASTKD3
PGOHUM00000251285

(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

SNP ID	Valid	Clinical significance	Chr 5 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs4001965^1,2	C,	--	7858979(-)	`GTTTGATTG/- GAGGG`	2	--	int¹		1		CSA	2
rs17183828^1,2	C,	--	7859078(+)	`AACCAG/CAAGAT`	2	--	int¹		3		NA	142
rs74497754^1,2	C,F,	--	7859129(+)	`GTACTC/GTATTT`	2	--	int¹		1		WA	118
rs181659296^1,2		--	7859152(+)	`TTTCCC/TTACGG`	2	--	int¹		0	--	--	--	--
rs185791643^1,2		--	7859308(+)	`CTTTAC/TAGCAC`	2	--	ut3¹ nc-transcript-variant		0	--	--	--	--
rs1046014^1,2	C,F,A,H,	--	7859434(-)	`TGGTGA/GTCTGA`	2	--	ut3¹ nc-transcript-variant		27		MN EA NA NS WA	3150
rs201444910^1,2		--	7859513(+)	`AATGCA/GAGTTC`	2	--	nc-transcript-variantut3¹		0	--	--	--	--
rs1046012^1,2	C,F,H,	--	7859523(-)	`AACAAT/CGGAAG`	2	--	nc-transcript-variantut3¹ ese³		23		MN NA NS EA WA CSA	2550
rs16879236^1,2	C,F,H,	--	7859702(+)	`TGAGGT/GTCCTC`	2	--	int¹		20		NA NS EA WA CSA	2192
rs200828643^1,2		--	7859722(+)	`GTTAC-/TTTG TTTGT`	2	--	int¹		0	--	--	--	--

HapMap Linkage Disequilibrium report for FASTKD3 (7859272 - 7869150 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV) variations for FASTKD3: --

SABiosciences Cancer Mutation PCR Assays

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DNA2.0 Custom Variant and Variant Library Synthesis for FASTKD3

(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

FASTKD3 for disorders About GeneDecksing

2 diseases for FASTKD3: About MalaCards

mitochondrial encephalomyopathy encephalomyopathy

1 disease from the University of Copenhagen DISEASES database for FASTKD3:

Mitochondrial encephalomyopathy

Human Genome Epidemiology (HuGE) Navigator: FASTKD3 (4 documents)

Export disorders for FASTKD3 gene to outside databases

(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 FASTKD3 gene integrated from 9 sources:
(articles sorted by number of sources associating them with FASTKD3)

Utopia: connect your pdf to the dynamic
world of online information

Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PubMed id 12477932)^{1, 3} Strausberg R.L....Marra M.A. (2002)
Proteomic dissection of the von Hippel-Lindau (VHL) i nteractome. (PubMed id 21942715)¹ Lai Y....Shiio Y. (2011)
Fast kinase domain-containing protein 3 is a mitochon drial protein essential for cellular respiration. (PubMed id 20869947)¹ Simarro M....Anderson P. (2010)
Variation at the NFATC2 locus increases the risk of t hiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipr il and rosiglitazone Medication (DREAM) study. (PubMed id 20628086)¹ Bailey S.D....Anand S. (2010)
Gene-centric association signals for lipids and apoli poproteins identified via the HumanCVD BeadChip. (PubMed id 19913121)¹ Talmud P.J.... . (2009)
The consensus coding sequences of human breast and colorectal cancers. (PubMed id 16959974)² Sjoeblom T.... Velculescu V.E. (2006)
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)
Sequence comparison of human and mouse genes reveals a homologous block structure in the promoter regions. (PubMed id 15342556)¹ Suzuki Y.... Sugano S. (2004)
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)
The DNA sequence and comparative analysis of human chromosome 5. (PubMed id 15372022)² Schmutz J.... Rubin E.M. (2004)

(in PubMed, OMIM, and NCBI Bookshelf)
About This Section

		AND	OR
Aliases
Free Text

Query String		PubMed OMIM NCBI Bookshelf
	(Note: In FireFox, select the above section and copy using Ctrl-C)

(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
About This Section

Entrez Gene: 79072	HGNC: 28758	AceView: MGC5297	Ensembl:ENSG00000124279	euGenes: HUgn79072
ECgene: FASTKD3	H-InvDB: FASTKD3

(According to HUGE)
About This Section

(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

Name	Description
PharmGKB entry for FASTKD3	Pharmacogenomics, SNPs, Pathways

Intellectual Property for FASTKD3 gene
(Patent information from GeneIP, Licensable technologies from WIS Yeda, Salk, Tufts, IP news from LifeMap Sciences, Inc.)

About This Section

Patent Information for FASTKD3 gene:
Search GeneIP for patents involving FASTKD3

GeneCards and IP:
Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search

(Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Uscn, Thermo Fisher Scientific, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or Enzo Life Sciences),
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About This Section


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	OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for FASTKD3		OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for FASTKD3
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	OriGene siRNA for FASTKD3		OriGene 3'-UTR Clone for FASTKD3
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	QIAGEN Custom miScript Target Protector blocks miRNA-binding site of in human, mouse, rat FASTKD3
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	GenScript Custom Purified and Recombinant Proteins Services for FASTKD3		GenScript cDNA clones with any tag delivered in your preferred vector for FASTKD3
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	Gene Synthesis: Any Gene in Any Vector		Vector-based siRNA and miRNA, Ready for Transfection
	Gene Mutant Library, Variants up to 10^11		Plasmid Preparation
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Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat FASTKD3

GeneCards Homepage - Last full update: 18 Mar 2013 - Incrementals: 21 Mar 2013 , 15 Apr 2013 , 27 Apr 2013

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Category			VWF (GIFTS: 73) von Willebrand factor
GIFtS Group

The GeneCards human gene database gene index: 1 3 5 6 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z

The GeneCards Human Gene Database

Developed at the Crown Human Genome Center, Department of Molecular Genetics, the Weizmann Institute of Science

Hot genes Disease genes FASTKD3 gene at Home site.

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FASTKD3 Gene

FAST kinase domains 3

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FASTKD3 Gene

FAST kinase domains 3

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