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ECHDC3 Gene

protein-coding GIFtS: 41

GC10P011824

enoyl Coenzyme A hydratase domain containing 3
Symbol approved by the HUGO Gene Nomenclature Committee (HGNC) database

(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc , and/or ⁷Ensembl, ⁸miRBase)
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Aliases
FLJ20909 ^¹, ²
OTTHUMP00000019084 ^²

Descriptions
enoyl Coenzyme A hydratase domain containing 3 ^²

External Ids
HGNC: 23489¹
Entrez Gene: 79746²
UniProtKB: Q96DC8³
Ensembl: ENSG00000134463⁷

Search outside databases for aliases for ECHDC3 gene

Previous GC identifer: GC10P011788

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

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 36),
and/or miRBase,
Genomic Views according to UCSC and Ensembl, Transcription factor binding sites according to SABiosciences)
About This Section

Genomic View:

UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 10p14 Ensembl cytogenetic band: 10p14 HGNC cytogenetic band: 10p14

ECHDC3 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)

GeneLoc gene densities for chromosome 10 GeneLoc Exon Structure

GeneLoc location for GC10P011824: (about GC identifiers)

Start:	11,824,362 bp from pter
End:	11,846,071 bp from pter
Size:	21,710 bases
Orientation:	plus strand

RefSeq DNA sequence:

NC_000010.9 NT_077569.2

(According to ¹UniProtKB, and/or Ensembl, Phosphorylation sites according to ²Phosphosite, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from Invitrogen, Millipore, Sigma-Aldrich, R&D Systems, Enzo Life Sciences, Abnova, OriGene and/or, Abcam,
Biochemical Assays by Invitrogen, Millipore, R&D Systems, Cell Signaling Technology, and/or Enzo Life Sciences, Ontologies according to Gene Ontology Consortium 01 Apr 2009 and Entrez Gene, Antibodies by Invitrogen, Millipore, Sigma-Aldrich, R&D Systems, Cell Signaling Technology, Abcam, Abnova, and/or Novus Biologicals)
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UniProtKB/Swiss-Prot: ECHD3_HUMAN, Q96DC8 (See protein sequence)

Recommended Name: Enoyl-CoA hydratase domain-containing protein 3, mitochondrial precursor

Size: 303 amino acids; 32694 Da

Subcellular location: Mitochondrion (Potential)

Sequence caution: Sequence=BAB14928.1; Type=Erroneous termination; Positions=230; Note=Translated

as Gln;

PDB structures from and Proteopedia :

2VX2 (3D)

Secondary accessions: Q53HR9 Q5W0J7 Q8WYY8 Q9BVL8 Q9H7G4

Alternative splicing: 2 isoforms: Q96DC8-1 Q96DC8-2

REFSEQ proteins: NP_078969.2

ENSEMBL proteins:

ENSP00000368517

Human Recombinant Proteins

	Browse Drug Discovery Central at Invitrogen for human recombinant proteins
	Browse Purified and Recombinant Proteins at Millipore
	Browse Human Recombinant Proteins at Sigma-Aldrich
	Browse R&D Systems for human recombinant proteins
	Browse recombinant and purified proteins available from Enzo Life Sciences
	Browse Abcam for Recombinant Proteins
	Browse Abnova for Human Recombinant Proteins

OriGene Purified Recombinant Human Protein: ECHDC3

1 Gene Ontology (GO) cellular component term (links to tree view):

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

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Antibodies for ECHDC3:

	Browse Antibodies Central at Invitrogen
	Browse Millipore's Extensive Line of Mono- and Polyclonal Antibodies
	Sigma-Aldrich Antibodies for ECHDC3
	Browse R&D Systems for Antibodies
	Search for antibodies at Abcam and the World's Antibody Gateway (free search engine of over 150 antibody companies)
	Browse Abnova for Monoclonal and Polyclonal Antibodies
	Search Novus for antibodies for ECHDC3

Assays for ECHDC3:

	Browse Invitrogen for biochemical assays
	Browse Kits and Assays available from Millipore
	Browse R&D Systems for biochemical assays
	Browse biochemical assays available from Enzo Life Sciences

(According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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Graphical View of Domain Structure for InterPro Entry Q96DC8

ProtoNet protein and cluster: Q96DC8

1 Blocks protein family: IPB001753 Enoyl-CoA hydratase/isomerase

UniProtKB/Swiss-Prot: ECHD3_HUMAN, Q96DC8

Similarity: Belongs to the enoyl-CoA hydratase/isomerase family

(According to MGI Jun 06 2009, UniProtKB, IUBMB,and/or Genatlas,
shRNA from OriGene, Sigma-Aldrich, RNAi from Sigma-Aldrich,
RNAi Products, Clones, and Q-PCR Products from Invitrogen, Millipore, OriGene, and/or Abnova, siRNAs from Applied Biosystems, SYBR primers from OriGene, Cell-based Assays from Millipore, Ontologies according to Gene Ontology Consortium 01 Apr 2009 via Entrez Gene.)
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Inhib. RNA:		Invitrogen RNAi Products for gene knock-down (ECHDC3)
		Browse for Gene Knock-down Tools from Millipore
		Browse Abnova for Chimera RNAi Products

OriGene 29mer shRNA kit in GFP-retroviral vector: NM_024693

Applied Biosystems Silencer® siRNAs for ECHDC3

Sigma-Aldrich siRNA for ECHDC3

Sigma-Aldrich shRNA for ECHDC3

Explore Sigma-Aldrich super-pooled esiRNAs

Clones:		Browse Clone Ranger at Invitrogen for clones
		Browse Clones for the Expression of Recombinant Proteins Available from Millipore

OriGene GFP tagged cDNA clone in CMV expression vector: NM_024693
Myc/DDK tagged cDNA clone in CMV expression vector: NM_024693
untagged cDNA clones in CMV expression vector (see all 2): NM_024693

Primers:

Browse Quantitative PCR Central at Invitrogen for Q-PCR LUX™ Primers

OriGene genome-wide validated SYBR primer pairs: NM_024693

1 Gene Ontology (GO) molecular function term (links to tree view):

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0003824	catalytic activity	IEA	--

About this table

(Pathways according to Invitrogen (maps by GeneGo), Millipore, Cell Signaling Technology, Sigma-Aldrich, KEGG and/or UniProtKB,
Sets of similar genes according to GeneDecks, Proteins Network according to SABiosciences, Interactions according to ¹UniProtKB, ²MINT, and/or ³STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2009 via Entrez Gene.)
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1 Gene Ontology (GO) biological process term (links to tree view):

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0008152	metabolic process	IEA	--

About this table

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, Sigma-Aldrich, Tocris Bioscience, and/or Novoseek and Drugs according to Enzo Life Sciences and/or PharmGKB)
About This Section

Browse drugs & compounds from Enzo Life Sciences

Browse Small Molecules at Sigma-Aldrich

Browse Tocris compounds for ECHDC3

(GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 219 Homo sapiens; Jun 2 2009) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView,
non coding RNAs according to RNAdb,
ESTs according to GeneTide,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
RNAi Products from Invitrogen, Millipore, and/or Abnova,
siRNAs from Applied Biosystems, Sigma-Aldrich,
shRNA from Sigma-Aldrich, OriGene,
Tagged/untagged cDNA clones from OriGene,
Expression Assays from Applied Biosystems)
About This Section

Inhib. RNA:		Invitrogen RNAi Products for gene knock-down (ECHDC3)
		Browse for Gene Knock-down Tools from Millipore
		Browse Abnova for Chimera RNAi Products

OriGene 29mer shRNA kit in GFP-retroviral vector: NM_024693

Sigma-Aldrich siRNA for ECHDC3

Sigma-Aldrich shRNA for ECHDC3

Explore Sigma-Aldrich super-pooled esiRNAs

Applied Biosystems Silencer® siRNAs:

NM_024693

REFSEQ mRNAs for ECHDC3 gene:

NM_024693.4

Applied Biosystems TaqMan ® Gene Expression Assays:

NM_024693

              OriGene GFP tagged cDNA clone in CMV expression vector: NM_024693
                                 Myc/DDK tagged cDNA clone in CMV expression vector: NM_024693
                                 untagged cDNA clones in CMV expression vector (see all 2): NM_024693

Additional cDNA sequence:

AF275677.1 AF289604.1 AK024562.1 AK222511.1 AK290902.1 BC001091.1 BC009617.1 CR599557.1

CR601232.1 CR614444.1 CR621986.1 CR624346.1

6 DOTS entries:

DT.211563 DT.97767689 DT.100832431 DT.86851839 DT.91724192 DT.95376060

24/98 AceView cDNA sequences (see all 98 ):

CR624346 CR614444 CR599557 CR621986 CR601232 BI822903 BP381809 BQ448334

BX395263 BE733789 BM665690 BQ216313 AA746327 CK904244 BU182785 BM547525

NM_024693 AW886423 BC009617 BQ879201 BX103353 CA440213 AV659439 BU522048

highest scoring ESTs for ECHDC3:

AI190179 AA379426 AA379438 AA435985 AA436085 AA632398 AA746327 AA856609 AA954235 AA974047

Unigene Cluster for ECHDC3:

Enoyl Coenzyme A hydratase domain containing 3

Hs.22242 [show with all ESTs]

Unigene Representative Sequence: AF289604

GeneLoc Exon Structure

4 Alternative Splicing Database (ASD) splice patterns (SP) for ECHDC3

ExUns:	1a	·	1b	·	1c	^	2a	·	2b	^	3	^	4a	·	4b	·	4c	·	4d	^	5
SP1:					-								-				-		-
SP2:
SP3:
SP4:													-

About this scheme

ECgene alternative splicing isoforms for ECHDC3

1 Ensembl transcript including schematic representation:

ENST00000379215

(Experimental results according to ¹GeneNote and GNF BioGPS,
probe sets-to-genes annotations according to ²GeneAnnot , ³GeneTide , Sets of similar genes according to GeneDecks, Electronic Northern calculations according to data from UniGene (Build 219 Homo sapiens), SAGE tags according to CGAP, plus additional links to SOURCE, and/or GNF BioGPS, and/or EXPOLDB, and/or UniProtKB,
Expression Assays from Applied Biosystems )
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ECHDC3 expression in normal and diseased human tissues

Applied Biosystems TaqMan ® Gene Expression Assays for ECHDC3

¹ / ² / ³

3 probe-sets matching ECHDC3 gene

Affymetrix probe-set	Array	# genes	Sensitivity	Specificity	Correlation	Length	Gb_Accession	Consensus	Uniqueness	Score	Rank
Affymetrix probe-set	Array	GeneAnnot data			GeneNote data		GeneTide data
47636_at²^{, 3}	U95-B	1	1.00	1.00	1.00	1.00	AI190179	1.00	1.00	1.00	1
219298_at²^{, 3}	U133-A	1	1.00	1.00	--	--	NM_024693	0.60	1.00	0.82	1
219298_at²	U133Plus2	1	1.00	1.00	--	--	--	--	--	--	--

GeneDecks ECHDC3 for binary patterns associated with the probe-sets selected above

About GeneDecksing

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Data from

(Publications) and GNF BioGPS
About these images
About these images

CGAP SAGE TAG: CCTATGGCTT

SOURCE GeneReport for Unigene cluster: Hs.22242

(Orthologs according to ^1,2HomoloGene (²older version, for species not in ¹newer version), ³euGenes, ⁴SGD and/or ⁵MGI Jun 06 2009, with possible further links to Flybase and/or WormBase, Gene Trees according to Ensembl)
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Orthologs for ECHDC3 gene from 5/10 species (see all 10 )

Organism	Gene	Locus	Description	Human Similarity	NCBI accessions
dog (Canis familiaris)	ECHDC3¹	--	enoyl Coenzyme A hydratase domain containing 3	85.14(n) 85.27(a)	487131 XM_544259.2 XP_544259.2
chimpanzee (Pan troglodytes)	ECHDC3¹	--	enoyl Coenzyme A hydratase domain containing 3	96.35(n) 96.01(a)	450300 XM_507654.2 XP_507654.2
cow (Bos taurus)	ECHDC3¹	--	enoyl Coenzyme A hydratase domain containing 3	83.22(n) 82(a)	617368 XM_869614.2 XP_874707.2
mouse (Mus musculus)	Echdc3^{1, 5}	2⁵	enoyl Coenzyme A hydratase domain containing 3^{1, 5}	80.56(n)¹ 82.33(a)¹	67856¹ NM_024208.4¹ NP_077170.2¹ AA674357⁵ AI662097⁵ (see all 13)
chicken (Gallus gallus)	ECHDC3¹	--	enoyl Coenzyme A hydratase domain containing 3	68.25(n) 67.77(a)	419098 XM_417287.2 XP_417287.1

About this table Species with no ortholog for ECHDC3

ENSEMBL Gene Tree for ECHDC3

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

Paralogs for ECHDC3 gene

ECH1²

(According to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, and UniProtKB, Linkage Disequilibrium by HapMap, Genotyping Reagents from Applied Biosystems)
About This Section

10/264 NCBI SNPs in ECHDC3 are shown (see all 264 )
(Click for Applied Biosystems TaqMan ® Genotyping Assay) (see all 107)

AB	SNP ID	Valid	Chr 10 pos	Sequence	Recs	AA Chg	Type	More	Recs	Allele freq	Pop	Total sample	More
AB	Genomic Data				Transcription Data				Allele Frequencies
				--	--	--		--	--				--
	rs3829154^1,2	A,C,F,H	11822759(-)	`CAGGCC/TTTCTC`	1	--	ng5¹ trp³		8		EU EA WA	838
	rs3814626^1,2	A,C,F,H	11824094(-)	`CTGTTA/GGCAAC`	1	--	ng5¹		4		EU EA WA	412
	rs3814627^1,2	A,C,F,H	11823879(-)	`CTTGAT/CCTCCC`	1	--	ng5¹		4		EU EA WA	412
	rs4750090^1,2	A,C,F,H	11829388(+)	`GGAACA/GCGTTG`	1	T/A	mis¹		12		EU EA WA	1256
	rs7910140^1,2	C,F,H	11837473(+)	`TGGCCA/GCGGCT`	1	T/A	mis¹		12		EU EA WA NA	1024
	rs35986488^1,2	C,F	11837506(-)	`AATGTC/TGCAGC`	1	D/N	mis¹		5		NA EU EA WA	498
--	rs4750105^1,2	A,C	11846427(+)	`ccgtcC/Tctact`	1	--	ng3¹		0	--	--	--	--
--	rs11257294^1,2	A,H	11822839(+)	`GAGAAG/ACAGAG`	1	--	ng5¹		4		EU EA WA	406
--	rs10906007^1,2	A,C	11823204(+)	`TGGACA/GACCCC`	1	--	ng5¹		0	--	--	--	--
	rs3814628^1,2	C	11823795(-)	`GCCCCC/GAGGGC`	1	--	ng5¹		0	--	--	--	--

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HapMap Linkage Disequilibrium images for ECHDC3 (up to first 250kb)

(in which this Gene is Involved, According to OMIM, UniProtKB, PharmGKB, Genatlas, GeneTests, Blood group antigen gene mutations by BGMUT, HGMD, GAD, HuGE Navigator, BCGD, and/or TGDB.)
About This Section

(Possibly Related Articles in Doctor's Guide)
About This Section

(in PubMed. Associations of this gene to articles via ¹Novoseek, ²HGNC, ³Entrez Gene, ⁴UniProtKB/Swiss-Prot, ⁵UniProtKB/TrEMBL, ⁶GAD, and/or ⁷PharmGKB)
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8 PubMed articles for ECHDC3 gene:

Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PubMed id 12477932)^{2, 3} Strausberg R.L....Marra M.A. (2002)
The DNA sequence and comparative analysis of human chromosome 10. (PubMed id 15164054)⁴ Deloukas P.... Rogers J. (2004)
Sequence comparison of human and mouse genes reveals a homologous block structure in the promoter regions. (PubMed id 15342556)³ 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)⁴ Gerhard D.S....Malek J. (2004)
Large-scale cDNA transfection screening for genes related to cancer development and progression. (PubMed id 15498874)⁴ Wan D....Gu J. (2004)
Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)⁴ Ota T....Sugano S. (2004)
Construction and characterization of a full length-enriched and a 5'- end-enriched cDNA library. (PubMed id 9373149)³ Suzuki Y.... Sugano S. (1997)
Oligo-capping: a simple method to replace the cap structure of eukaryotic mRNAs with oligoribonucleotides. (PubMed id 8125298)³ Maruyama K. and Sugano S. (1994)

(in PubMed, OMIM, and NCBI Bookshelf)
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		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, and/or H-InvDB)
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Entrez Gene: 79746	HGNC: 23489	AceView: ECHDC3	Ensembl:ENSG00000134463	euGenes: HUgn79746
ECgene: ECHDC3	H-InvDB: ECHDC3

(According to HUGE)
About This Section

(According to ATLAS, HORDE, IMGT, MTDB, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
About This Section

Licensable Technologies for ECHDC3
(Available from WIS Yeda, Salk, Tufts)

About This Section

(Reagents available from Applied Biosystems, Antibodies and assays by Cell Signaling Technology, Abcam, Novus Biologicals,
Sigma-Aldrich, R&D Systems, Millipore, Abnova, and/or Invitrogen, Clones available from OriGene,and/or Invitrogen, Drugs and/or compounds by Sigma-Aldrich,
Enzo Life Sciences, and/or Tocris Bioscience)
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Products for ECHDC3:

TaqMan ® Gene Expression Assays

TaqMan ® Genotyping Assays

Free SNP selection tool

Invitrogen iPath Pathways	Invitrogen BLOCK-iT™ RNAi
Invitrogen Antibodies	Invitrogen Assays
Invitrogen Clones	Invitrogen Q-PCR Products
Invitrogen Human Recombinant Kinases	Invitrogen Custom Antibody and Peptide Service
Invitrogen Proteins / Assays / Screening Services	Search Invitrogen catalog for ECHDC3-related products

	Millipore Custom Antibody & Bulk Services
	Millipore Preclinical / Clinical Development Services
	Millipore Immunoassay Services
	Millipore Target Screening & Profiling Services

	Predesigned and custom siRNAs for ECHDC3		Antibodies for ECHDC3
	Explore super-pooled esiRNAs		Browse proteins at Sigma-Aldrich
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	Recombinant & Natural Proteins

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ECHDC3 Gene

protein-coding GIFtS: 41

Aliases &
Descriptions
for ECHDC3

Summaries
for ECHDC3

Genomic Location
for ECHDC3

Proteins
for ECHDC3

Protein Domains/
Families
for ECHDC3

Gene Function
for ECHDC3

Pathways & Interactions
for ECHDC3

Drugs & Compounds
for ECHDC3

Transcripts
for ECHDC3

Expression
for ECHDC3

Orthologs
for ECHDC3

Paralogs
for ECHDC3

SNPs/Variants
for ECHDC3

Disorders & Mutations
for ECHDC3

Medical News
for ECHDC3

Publications
for ECHDC3

Search for ECHDC3

Genome Databases showing ECHDC3

Other Databases showing ECHDC3

Specialized Databases showing ECHDC3

Licensable Technologies
for ECHDC3

Services
for ECHDC3

Gene Index: 3 5 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

ECHDC3 Gene

protein-coding GIFtS: 41

Aliases & Descriptionsfor ECHDC3

Summariesfor ECHDC3

Genomic Locationfor ECHDC3

Proteinsfor ECHDC3

Protein Domains/Familiesfor ECHDC3

Gene Functionfor ECHDC3

Pathways & Interactionsfor ECHDC3

Drugs & Compoundsfor ECHDC3

Transcriptsfor ECHDC3

Expression for ECHDC3

Orthologsfor ECHDC3

Paralogsfor ECHDC3

SNPs/Variantsfor ECHDC3

Disorders & Mutationsfor ECHDC3

Medical Newsfor ECHDC3

Publicationsfor ECHDC3

Search for ECHDC3

Genome Databases showing ECHDC3

Other Databases showing ECHDC3

Specialized Databases showing ECHDC3

Licensable Technologiesfor ECHDC3

Servicesfor ECHDC3

Gene Index: 3 5 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

Aliases &
Descriptions
for ECHDC3

Summaries
for ECHDC3

Genomic Location
for ECHDC3

Proteins
for ECHDC3

Protein Domains/
Families
for ECHDC3

Gene Function
for ECHDC3

Pathways & Interactions
for ECHDC3

Drugs & Compounds
for ECHDC3

Transcripts
for ECHDC3

Expression
for ECHDC3

Orthologs
for ECHDC3

Paralogs
for ECHDC3

SNPs/Variants
for ECHDC3

Disorders & Mutations
for ECHDC3

Medical News
for ECHDC3

Publications
for ECHDC3

Licensable Technologies
for ECHDC3

Services
for ECHDC3