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Aliases & Descriptions for ECHDC1
(According to
1 HGNC ,
2 Entrez Gene ,
3 UniProtKB/Swiss-Prot ,
4 UniProtKB/TrEMBL , 5 OMIM , 6 GeneLoc
, and/or 7 Ensembl ,
8 miRBase )About This Section
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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
Search outside databases for aliases for ECHDC1 genePrevious GC identifers: GC06M127590 GC06M127591
Summaries for ECHDC1 (According to Entrez Gene ,
Wikipedia's
Gene Wiki ,
UniProtKB/Swiss-Prot ,
and/or
UniProtKB/TrEMBL )
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Genomic Location for ECHDC1
(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
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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 Proteins for ECHDC1
(According to
1 UniProtKB ,
and/or Ensembl ,
Phosphorylation sites according to 2 Phosphosite ,
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 Q5TEG4Alternative 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 Origene for full length recombinant human proteins expressed in human HEK293 cells Antibodies for ECHDC1: Assays for ECHDC1:
Protein
Domains/ Families for ECHDC1(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 Q9NTX5 ProtoNet protein and cluster: Q9NTX5
UniProtKB/Swiss-Prot: ECHD1_HUMAN, Q9NTX5 Similarity : Belongs to the enoyl-CoA hydratase/isomerase family
Gene Function for ECHDC1
(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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               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                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 ID Qualified GO term Evidence PubMed IDs GO:0003824 catalytic activity
IEA --
About this table
Pathways & Interactions for ECHDC1
(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 1 UniProtKB ,
2 MINT , and/or
3 STRING ,
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 (ENSP00000357278 3 ) via UniProtKB, MINT, and/or STRING About this table 1 Gene Ontology (GO) biological process term (links to tree view) :
GO ID Qualified GO term Evidence PubMed IDs GO:0008152 metabolic process
IEA --
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Drugs & Compounds for ECHDC1 (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 )
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Browse Tocris compounds for ECHDC1
Transcripts 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
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               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
Expression for ECHDC1
(Experimental results according to
1 GeneNote
and GNF BioGPS ,
probe sets-to-genes annotations according to
2 GeneAnnot ,
3 GeneTide ,
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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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 Data from
(Publications) and GNF BioGPS About these images About these images CGAP SAGE TAG: ATCCTACTGTSOURCE GeneReport for Unigene cluster: Hs.486410
Orthologs for ECHDC1
(Orthologs according to
1,2 HomoloGene (2 older version, for species not in 1 newer version),
3 euGenes ,
4 SGD
and/or
5 MGI Jun 06 2009,
with possible further links to
Flybase
and/or
WormBase ,
Gene Trees according to Ensembl )
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Orthologs for ECHDC1 gene from 5/9 species (see all 9
)
About this table Species with no ortholog for ECHDC1 ENSEMBL Gene Tree for ECHDC1 Paralogs for ECHDC1 (Paralogs according to 1 HomoloGene and 2 Ensembl , Pseudogenes according to 3 Pseudogene.org )About This Section
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SNPs/Variants for ECHDC1 (According to the
1 NCBI SNP Database ,
2 Ensembl ,
3 PupaSUITE , and
UniProtKB ,
Linkage Disequilibrium by HapMap ,
Genotyping Reagents from
Applied Biosystems )
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HapMap Linkage Disequilibrium images for ECHDC1 (up to first 250kb)
Disorders & Mutations for ECHDC1
(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 .)
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OMIM: 612136 Human Genome Epidemiology Navigator: ECHDC1 (1 document)
Medical News for ECHDC1 (Possibly Related Articles in
Doctor's Guide )
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Publications for ECHDC1 (in
PubMed .
Associations of this gene to articles via
1 Novoseek ,
2 HGNC ,
3 Entrez Gene ,
4 UniProtKB/Swiss-Prot ,
5 UniProtKB/TrEMBL ,
6 GAD , and/or
7 PharmGKB )
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8 PubMed articles for ECHDC1 gene :
Search for ECHDC1
(in PubMed ,
OMIM , and NCBI Bookshelf ) About This Section
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Genome Databases showing ECHDC1
(According to
Entrez Gene ,
HGNC ,
AceView ,
euGenes ,
Ensembl ,
miRBase ,
ECgene ,
and/or
H-InvDB )
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Other Databases showing ECHDC1
(According to HUGE )
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Specialized Databases showing ECHDC1 (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
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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
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