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ECHDC1 Gene

protein-coding   GIFtS: 50

GC06M127651
enoyl Coenzyme A hydratase domain containing 1
Symbol approved by the HUGO Gene Nomenclature Committee (HGNC) database
Services    
(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc , and/or 7Ensembl, 8miRBase)
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Aliases
DKFZp762M1110 2
FLJ40827 2
OTTHUMP00000017164 2
OTTHUMP00000017165 2
OTTHUMP00000017166 2
OTTHUMP00000017167 2
OTTHUMP00000017168 2
OTTHUMP00000017169 2
OTTHUMP00000017170 2
OTTHUMP00000017171 2
OTTHUMP00000017172 2
dJ351K20.2 1, 2
Descriptions
enoyl Coenzyme A hydratase domain containing 1 2
External Ids
HGNC: 214891
Entrez Gene: 558622
UniProtKB: Q9NTX53
Ensembl: ENSG000000931447
Search outside databases for aliases for ECHDC1 gene

Previous GC identifers: GC06M127590 GC06M127591

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

 Transcription factor binding sites upstream to the ECHDC1 gene  

Entrez Gene cytogenetic band: 6q22.33   Ensembl cytogenetic band:  6q22.33   HGNC cytogenetic band: 6q22.33

ECHDC1 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 6         GeneLoc Exon Structure

GeneLoc location for GC06M127651:     (about GC identifiers)

Start:
127,651,550 bp from pter
End:
127,706,447 bp from pter
Size:
54,898 bases
Orientation:
minus strand
RefSeq DNA sequence:
NC_000006.10  NT_025741.14  
(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: ECHD1_HUMAN, Q9NTX5 (See protein sequence)
Recommended Name: Enoyl-CoA hydratase domain-containing protein 1  
Size: 307 amino acids; 33698 Da
Secondary accessions: A6NFJ5 Q5TEG4
Alternative splicing: 2 isoforms:  Q9NTX5-1   Q9NTX5-2   

REFSEQ proteins (5 alternative transcripts): 
NP_001002030.1  NP_001099014.1  NP_001099015.1  NP_001132982.1  NP_060949.2  


ENSEMBL proteins: 
ENSP00000357278 ENSP00000357276 ENSP00000207783 ENSP00000311115 ENSP00000357273 ENSP00000357275 
ENSP00000357274 ENSP00000357272 ENSP00000357270 


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
Recombinant Proteins from Abcam (ECHDC1)
Human Recombinant Proteins from Abnova (ECHDC1)
                Browse Origene for full length recombinant human proteins expressed in human HEK293 cells 


Antibodies for ECHDC1: 
Browse Antibodies Central at Invitrogen
Browse Millipore's Extensive Line of Mono- and Polyclonal Antibodies
Sigma-Aldrich Antibodies for ECHDC1
Browse R&D Systems for Antibodies
Antibodies from Abcam (ECHDC1), each with their AbpromiseSM
Monoclonal and Polyclonal Antibodies from Abnova (ECHDC1)
Novus Biologicals Antibody for ECHDC1

Assays for ECHDC1: 
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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2 InterPro domains/families:
 IPR018376 Enoyl-CoA_hyd/isom_CS
 IPR001753 Crotonase_core


   GeneDecks  ECHDC1 for the domains selected above  
About GeneDecksing

Graphical View of Domain Structure for InterPro Entry Q9NTX5

ProtoNet protein and cluster: Q9NTX5

UniProtKB/Swiss-Prot: ECHD1_HUMAN, Q9NTX5
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 (ECHDC1)
Browse for Gene Knock-down Tools from Millipore
Browse Abnova for Chimera RNAi Products
               OriGene 29mer shRNA kit in GFP-retroviral vectors (see all 6): NM_001139510

              Applied Biosystems Silencer® siRNAs for ECHDC1

              Sigma-Aldrich siRNA and siRNA Panels for ECHDC1  
                     Sigma-Aldrich shRNA for ECHDC1  
                     Explore Sigma-Aldrich super-pooled esiRNAs  

Clones:Invitrogen Clones for ECHDC1
Browse Clones for the Expression of Recombinant Proteins Available from Millipore
               OriGene GFP tagged cDNA clones in CMV expression vector (see all 5): NM_001002030
                                 Myc/DDK tagged cDNA clones in CMV expression vector (see all 5): NM_001002030
                                 untagged cDNA clones in CMV expression vector (see all 7): AK098146 

Primers: Browse Quantitative PCR Central at Invitrogen for Q-PCR LUX™ Primers
              OriGene genome-wide validated SYBR primer pairs: NM_001139510

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

GO IDQualified GO termEvidencePubMed 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 Interacting protein for ECHDC1 (ENSP000003572783) via UniProtKB, MINT, and/or STRING
InteractantInteraction Details
GeneCardExternal ID(s)
RNF146ENSP000003572973STRING (score=.706)
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1 Gene Ontology (GO) biological process term (links to tree view):

GO IDQualified GO termEvidencePubMed 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 ECHDC1

(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 (ECHDC1)
Browse for Gene Knock-down Tools from Millipore
Browse Abnova for Chimera RNAi Products
               OriGene 29mer shRNA kit in GFP-retroviral vectors (see all 6): NM_001139510

              Sigma-Aldrich siRNA and siRNA Panels for ECHDC1  
                     Sigma-Aldrich shRNA for ECHDC1  
                     Explore Sigma-Aldrich super-pooled esiRNAs  

Applied Biosystems Silencer® siRNAs: 

NM_001002030  NM_001105544  NM_001105545  NM_001139510  NM_018479  

REFSEQ mRNAs for ECHDC1 gene (5 alternative transcripts): 

NM_001002030.1   NM_001105544.1   NM_001105545.1   NM_001139510.1   NM_018479.3   

Applied Biosystems TaqMan ® Gene Expression Assays: 

NM_001002030  NM_001105544  NM_001105545  NM_001139510  NM_018479  

               OriGene GFP tagged cDNA clones in CMV expression vector (see all 5): NM_001002030
                                 Myc/DDK tagged cDNA clones in CMV expression vector (see all 5): NM_001002030
                                 untagged cDNA clones in CMV expression vector (see all 7): AK098146 

Additional cDNA sequence: 

AF220192.1 AK025760.1 AK025796.1 AK055024.1 AK303812.1 AL834469.1 BC003549.1 CR626117.1 
CR626562.1 

19 DOTS entries:

DT.95124236  DT.217930  DT.95124237  DT.100824550  DT.100771406  DT.80100288  DT.100824542  DT.91729282 
DT.121323233  DT.40131872  DT.95124239  DT.100824541  DT.100824548  DT.100654757  DT.100683477  DT.121323254 
DT.121323279  DT.439327  DT.91890733 

24/290 AceView cDNA sequences (see all 290 ):

BM751383 AA811657 AI436317 AA828459 CB125463 BM792449 BM836458 AA228110 
AL834469 BM713351 BU783974 AI695653 BX498139 AW963648 H94023 AW614429 
AA749197 AI264027 AA365278 AW966173 AL599043 BQ773738 AA642382 BU617039 

highest scoring ESTs for ECHDC1:

AA385321 AI751680 BF966227 BG654484 BM152595 BU784243 N90509 AF220192 AK025760 AL599043 

Unigene Cluster for ECHDC1:

Enoyl Coenzyme A hydratase domain containing 1
Hs.486410  [show with all ESTs]
Unigene Representative Sequence: NM_001002030


GeneLoc Exon Structure

5/10 Alternative Splicing Database (ASD) splice patterns (SP) for ECHDC1 (see all 10 )

ExUns: 1a · 1b ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9a · 9b · 9c ^ 10 ^ 11a · 11b · 11c · 11d · 11e · 11f
SP1:                                      -                 -                 -                                       
SP2:                                                  -     -                                                         
SP3:                                      -           -     -                 -                                       
SP4:                                                                                                                  
SP5:              -     -     -           -           -     -                 -                                       

About this scheme

ECgene alternative splicing isoforms for ECHDC1

9 Ensembl transcripts including schematic representations:
ENST00000368295  ENST00000368293  ENST00000207783  ENST00000309620  ENST00000368290  ENST00000368292  
ENST00000368291  ENST00000368289  ENST00000368287  
(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 )
About This Section

ECHDC1 expression in normal and diseased human tissues

 Applied Biosystems TaqMan ® Gene Expression Assays for ECHDC1

1 / 2 / 3

14 probe-sets matching ECHDC1 gene


Affymetrix
probe-set
Array  GeneAnnot data GeneNote data GeneTide data
# genes Sensitivity Specificity Correlation Length Gb_Accession Consensus Uniqueness Score Rank
52381_s_at2, 3 U95-B 1 1.00 1.00 0.83 1.06 R69311 0.60 1.00 0.82 1
48928_at2, 3 U95-C 1 1.00 1.00 0.90 0.99 AI480377 0.80 0.80 0.80 1

49255_at2, 3 U95-C 1 1.00 1.00 0.91 1.32 N90509 0.80 1.00 0.91 1

71634_at2, 3 U95-E 1 0.56 1.00 0.90 0.64 AA811657 0.60 1.00 0.82 1

233124_s_at2, 3 U133-B 1 1.00 1.00 -- -- AK021464 0.40 1.00 0.76 1

223088_x_at2, 3 U133-B 1 1.00 1.00 -- -- BC003549 0.80 0.88 0.84 1

219974_x_at2, 3 U133-A 1 1.00 1.00 -- -- NM_018479 0.60 1.00 0.82 1

223087_at2 U133-B 1 1.00 1.00 -- -- -- -- -- -- --

243303_at2, 3 U133-B 1 0.73 1.00 -- -- AA811657 0.60 1.00 0.82 1

233124_s_at2 U133Plus2 1 1.00 1.00 -- -- -- -- -- -- --

223088_x_at2 U133Plus2 1 1.00 1.00 -- -- -- -- -- -- --

219974_x_at2 U133Plus2 1 1.00 1.00 -- -- -- -- -- -- --

223087_at2 U133Plus2 1 1.00 1.00 -- -- -- -- -- -- --

243303_at2 U133Plus2 1 0.73 1.00 -- -- -- -- -- -- --
GeneDecks  ECHDC1 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: ATCCTACTGT

SOURCE GeneReport for Unigene cluster: Hs.486410
(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)
About This Section


Orthologs for ECHDC1 gene from 5/9 species (see all 9 )
Organism Gene Locus Description Human
Similarity
NCBI accessions
dog
(Canis familiaris)
ECHDC11   -- enoyl Coenzyme A hydratase domain containing 1 81.17(n)
81.4(a)
609850  XM_846471.1  XP_851564.1 
chimpanzee
(Pan troglodytes)
ECHDC11   -- enoyl Coenzyme A hydratase domain containing 1 99.67(n)
99.67(a)
745395  XM_001166403.1  XP_001166403.1 
cow
(Bos taurus)
ECHDC11   -- enoyl Coenzyme A hydratase domain containing 1 89.15(n)
85.23(a)
536284  NM_001035415.1  NP_001030492.1 
rat
(Rattus norvegicus)
Echdc11   -- enoyl Coenzyme A hydratase domain containing 1 82.72(n)
81.61(a)
361465  NM_001007734.1  NP_001007735.1 
mouse
(Mus musculus)
Echdc11, 5 10 (22.00 cM)5
enoyl Coenzyme A hydratase domain containing 11, 5 82.61(n)1
82.94(a)1
526651  NM_025855.31  NP_080131.31 
 AI3144625  AI9300385  (see all 23)
About this table        Species with no ortholog for ECHDC1

ENSEMBL Gene Tree for ECHDC1
(Paralogs according to 1HomoloGene
and 2Ensembl, Pseudogenes according to 3Pseudogene.org)
About This Section

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


10/256 NCBI SNPs in ECHDC1 are shown (see all 256 )
(Click for Applied Biosystems TaqMan ® Genotyping Assay)  (see all 99)
ABGenomic DataTranscription DataAllele Frequencies
SNP IDValidChr 6 posSequenceRecsAA
Chg
TypeMoreRecsAllele
freq
PopTotal
sample
More
------------
rs66831,2
A,C,F,H,O127651714(-) ACTTGC/TATTTG 4 -- ut31 ese39Minor allele frequency- T:0.43MN EU EA WA NA 930
rs115563541,2
C,F,H127706354(-) GTTCCC/TGGAGA 4 -- ut51 ese34Minor allele frequency- T:0.25EU EA WA 412
rs139811,2
C127651788(+) GTGATG/AAGTCA 4 -- ut311Minor allele frequency- A:0.00MN 184
rs37344451,2
F127706340(+) GCTCTC/GCTTTC 4 -- ut51 ese3 trp31Minor allele frequency- G:0.04EA 1502
--
rs115563551,2
H127693839(-) CAGCCT/CCTCTG 4 P/S mis1 int14Minor allele frequency- C:0.00EU EA WA 406
rs119619941,2
A,C,F,H127691043(+) GCTATC/TCTTTC 4 -- int116Minor allele frequency- T:0.31EU EA WA NA 1466
rs37988591,2
A,C,F,H127704809(+) TGCCAC/TCCACA 4 -- int15Minor allele frequency- T:0.13EA EU WA 1894
rs125290771,2
A,C,F,H127675937(+) tgattG/Ttggag 4 -- int14Minor allele frequency- T:0.30EU EA WA 418
rs69396621,2
A,C,F,H127691950(+) TGCTGA/GTTTTT 4 -- int13Minor allele frequency- G:0.01EA WA 300
rs37569931,2
A,C,F,H127693244(+) AATTAA/CGCTAA 4 -- int14Minor allele frequency- C:0.09EA WA 1768
About this table

HapMap Linkage Disequilibrium images for ECHDC1 (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

OMIM: 612136

Human Genome Epidemiology Navigator: ECHDC1 (1 document)

(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)
About This Section

8 PubMed articles for ECHDC1 gene:
(in PubMed, OMIM, and NCBI Bookshelf)
About This Section

 ANDOR
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)
About This Section

Entrez Gene: 55862 HGNC: 21489 AceView: ECHDC1 Ensembl:ENSG00000093144 euGenes: HUgn55862
ECgene: ECHDC1 H-InvDB: ECHDC1
(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

  --
(Available from WIS Yeda, Salk, Tufts)
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  --
(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)
About This Section



Products for ECHDC1:
 TaqMan ® Gene Expression Assays
 TaqMan ® Genotyping Assays
  Free SNP selection tool



  Invitrogen iPath Pathways  Invitrogen BLOCK-iT™ RNAi
  Invitrogen Antibodies  Invitrogen Assays
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  Invitrogen Proteins / Assays / Screening Services  Search Invitrogen catalog for ECHDC1-related products

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 Predesigned and custom siRNAs for ECHDC1 Antibodies for ECHDC1
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