KEGG   Homo sapiens (human): 1892Help
Entry
1892              CDS       T01001                                 

Gene name
ECHS1, ECHS1D, SCEH
Definition
(RefSeq) enoyl-CoA hydratase, short chain 1
  KO
K07511  enoyl-CoA hydratase [EC:4.2.1.17]
Organism
hsa  Homo sapiens (human)
Pathway
hsa00062  Fatty acid elongation
hsa00071  Fatty acid degradation
hsa00280  Valine, leucine and isoleucine degradation
hsa00310  Lysine degradation
hsa00380  Tryptophan metabolism
hsa00410  beta-Alanine metabolism
hsa00640  Propanoate metabolism
hsa00650  Butanoate metabolism
hsa01100  Metabolic pathways
hsa01200  Carbon metabolism
hsa01212  Fatty acid metabolism
Module
hsa_M00032  Lysine degradation, lysine => saccharopine => acetoacetyl-CoA
hsa_M00085  Fatty acid elongation in mitochondria
hsa_M00087  beta-Oxidation
Network
nt06020  beta-Oxidation in mitochondria
nt06024  Valine, leucine and isoleucine degradation
  Element
N00766  HADHB deficiency in beta-oxidation
N00804  beta-Oxidation
N00852  Valine degradation
N00853  ALDH6A1 deficiency in valine degradation
N00854  HIBCH deficiency in valine degradation
N00856  Isoleucine degradation
N00857  HSD17B10 deficiency in isoleucine degradation
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09100 Metabolism
  09101 Carbohydrate metabolism
   00640 Propanoate metabolism
    1892 (ECHS1)
   00650 Butanoate metabolism
    1892 (ECHS1)
  09103 Lipid metabolism
   00062 Fatty acid elongation
    1892 (ECHS1)
   00071 Fatty acid degradation
    1892 (ECHS1)
  09105 Amino acid metabolism
   00280 Valine, leucine and isoleucine degradation
    1892 (ECHS1)
   00310 Lysine degradation
    1892 (ECHS1)
   00380 Tryptophan metabolism
    1892 (ECHS1)
  09106 Metabolism of other amino acids
   00410 beta-Alanine metabolism
    1892 (ECHS1)
Enzymes [BR:hsa01000]
 4. Lyases
  4.2  Carbon-oxygen lyases
   4.2.1  Hydro-lyases
    4.2.1.17  enoyl-CoA hydratase
     1892 (ECHS1)
BRITE hierarchy
SSDB OrthologParalogGFIT
Motif
Pfam: ECH_1 ECH_2 Peptidase_S49
Motif
Other DBs
NCBI-GeneID: 1892
NCBI-ProteinID: NP_004083
OMIM: 602292
HGNC: 3151
Ensembl: ENSG00000127884
Vega: OTTHUMG00000019320
Pharos: P30084(Tbio)
UniProt: P30084
Structure
PDB: 

Position
10q26.3
AA seq 290 aa AA seqDB search
MAALRVLLSCVRGPLRPPVRCPAWRPFASGANFEYIIAEKRGKNNTVGLIQLNRPKALNA
LCDGLIDELNQALKTFEEDPAVGAIVLTGGDKAFAAGADIKEMQNLSFQDCYSSKFLKHW
DHLTQVKKPVIAAVNGYAFGGGCELAMMCDIIYAGEKAQFAQPEILIGTIPGAGGTQRLT
RAVGKSLAMEMVLTGDRISAQDAKQAGLVSKICPVETLVEEAIQCAEKIASNSKIVVAMA
KESVNAAFEMTLTEGSKLEKKLFYSTFATDDRKEGMTAFVEKRKANFKDQ
NT seq 873 nt NT seq  +upstreamnt  +downstreamnt
atggccgccctgcgtgtcctgctgtcctgcgtccgcggcccgctgaggcccccggttcgc
tgtcccgcctggcgtcccttcgcctcgggtgctaactttgagtacatcatcgcagaaaaa
agagggaagaataacaccgtggggttgatccaactgaaccgccccaaggccctcaatgca
ctttgcgatggcctgattgacgagctcaaccaggccctgaagaccttcgaggaggacccg
gccgtgggggccattgtcctcaccggcggggataaggcctttgcagctggagctgatatc
aaggaaatgcagaacctgagtttccaggactgttactccagcaagttcttgaagcactgg
gaccacctcacccaggtcaagaagccagtcatcgctgctgtcaatggctatgcctttggc
gggggctgtgagcttgccatgatgtgtgatatcatctatgccggtgagaaggcccagttt
gcacagccggagatcttaataggaaccatcccaggtgcgggcggcacccagagactcacc
cgtgctgttgggaagtcgctggcgatggagatggtcctcactggtgaccggatctcagcc
caggacgccaagcaagcaggtcttgtcagcaagatttgtcctgttgagacactggtggaa
gaagccatccagtgtgcagaaaaaattgccagcaattctaaaattgtagtagcgatggcc
aaagaatcagtgaatgcagcttttgaaatgacattaacagaaggaagtaagttggagaag
aaactcttttattcaacctttgccactgatgaccggaaagaagggatgaccgcgtttgtg
gaaaagagaaaggccaacttcaaagaccagtga

KEGG   Homo sapiens (human): 1962Help
Entry
1962              CDS       T01001                                 

Gene name
EHHADH, ECHD, FRTS3, L-PBE, LBFP, LBP, PBFE
Definition
(RefSeq) enoyl-CoA hydratase and 3-hydroxyacyl CoA dehydrogenase
  KO
K07514  enoyl-CoA hydratase / 3-hydroxyacyl-CoA dehydrogenase / 3,2-trans-enoyl-CoA isomerase [EC:4.2.1.17 1.1.1.35 5.3.3.8]
Organism
hsa  Homo sapiens (human)
Pathway
hsa00071  Fatty acid degradation
hsa00280  Valine, leucine and isoleucine degradation
hsa00310  Lysine degradation
hsa00380  Tryptophan metabolism
hsa00410  beta-Alanine metabolism
hsa00640  Propanoate metabolism
hsa00650  Butanoate metabolism
hsa01100  Metabolic pathways
hsa01200  Carbon metabolism
hsa01212  Fatty acid metabolism
hsa03320  PPAR signaling pathway
hsa04146  Peroxisome
Module
hsa_M00032  Lysine degradation, lysine => saccharopine => acetoacetyl-CoA
hsa_M00087  beta-Oxidation
Disease
H01198  Fanconi renotubular syndrome
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09100 Metabolism
  09101 Carbohydrate metabolism
   00640 Propanoate metabolism
    1962 (EHHADH)
   00650 Butanoate metabolism
    1962 (EHHADH)
  09103 Lipid metabolism
   00071 Fatty acid degradation
    1962 (EHHADH)
  09105 Amino acid metabolism
   00280 Valine, leucine and isoleucine degradation
    1962 (EHHADH)
   00310 Lysine degradation
    1962 (EHHADH)
   00380 Tryptophan metabolism
    1962 (EHHADH)
  09106 Metabolism of other amino acids
   00410 beta-Alanine metabolism
    1962 (EHHADH)
 09140 Cellular Processes
  09141 Transport and catabolism
   04146 Peroxisome
    1962 (EHHADH)
 09150 Organismal Systems
  09152 Endocrine system
   03320 PPAR signaling pathway
    1962 (EHHADH)
Enzymes [BR:hsa01000]
 1. Oxidoreductases
  1.1  Acting on the CH-OH group of donors
   1.1.1  With NAD+ or NADP+ as acceptor
    1.1.1.35  3-hydroxyacyl-CoA dehydrogenase
     1962 (EHHADH)
 4. Lyases
  4.2  Carbon-oxygen lyases
   4.2.1  Hydro-lyases
    4.2.1.17  enoyl-CoA hydratase
     1962 (EHHADH)
 5. Isomerases
  5.3  Intramolecular oxidoreductases
   5.3.3  Transposing C=C bonds
    5.3.3.8  Delta3-Delta2-enoyl-CoA isomerase
     1962 (EHHADH)
BRITE hierarchy
SSDB OrthologParalogGFIT
Motif
Pfam: 3HCDH_N ECH_1 3HCDH ECH_2 NAD_binding_2 UDPG_MGDP_dh_N Peptidase_S49 TrkA_N 2-Hacid_dh_C
Motif
Other DBs
NCBI-GeneID: 1962
NCBI-ProteinID: NP_001957
OMIM: 607037
HGNC: 3247
Ensembl: ENSG00000113790
Vega: OTTHUMG00000156698
Pharos: Q08426(Tbio)
UniProt: Q08426
Position
3q27.2
AA seq 723 aa AA seqDB search
MAEYTRLHNALALIRLRNPPVNAISTTLLRDIKEGLQKAVIDHTIKAIVICGAEGKFSAG
ADIRGFSAPRTFGLTLGHVVDEIQRNEKPVVAAIQGMAFGGGLELALGCHYRIAHAEAQV
GLPEVTLGLLPGARGTQLLPRLTGVPAALDLITSGRRILADEALKLGILDKVVNSDPVEE
AIRFAQRVSDQPLESRRLCNKPIQSLPNMDSIFSEALLKMRRQHPGCLAQEACVRAVQAA
VQYPYEVGIKKEEELFLYLLQSGQARALQYAFFAERKANKWSTPSGASWKTASARPVSSV
GVVGLGTMGRGIVISFARARIPVIAVDSDKNQLATANKMITSVLEKEASKMQQSGHPWSG
PKPRLTSSVKELGGVDLVIEAVFEEMSLKKQVFAELSAVCKPEAFLCTNTSALDVDEIAS
STDRPHLVIGTHFFSPAHVMKLLEVIPSQYSSPTTIATVMNLSKKIKKIGVVVGNCFGFV
GNRMLNPYYNQAYFLLEEGSKPEEVDQVLEEFGFKMGPFRVSDLAGLDVGWKSRKGQGLT
GPTLLPGTPARKRGNRRYCPIPDVLCELGRFGQKTGKGWYQYDKPLGRIHKPDPWLSKFL
SRYRKTHHIEPRTISQDEILERCLYSLINEAFRILGEGIAASPEHIDVVYLHGYGWPRHK
GGPMFYASTVGLPTVLEKLQKYYRQNPDIPQLEPSDYLKKLASQGNPPLKEWQSLAGSPS
SKL
NT seq 2172 nt NT seq  +upstreamnt  +downstreamnt
atggccgagtatacgcggctgcacaacgccttggcgctaatccgcctccgaaacccgccg
gtcaacgcgatcagtacgactttactccgtgacataaaagaaggactacagaaagctgta
atagaccatacaataaaagccattgtgatttgtggagcagagggcaaattttctgcaggt
gctgatattcgtggcttcagtgctcctaggacatttggccttacactgggacatgtagta
gatgaaatacagagaaatgagaagcccgtggtggcagcaatccaaggcatggctttcgga
gggggactagagctggccctgggctgtcactataggattgcccacgcagaggctcaagtt
ggcttaccagaagttacactgggacttctccctggtgcaagaggaacccagcttctcccc
agactcactggagttcctgctgcacttgacttaattacctcaggaagacgtattttagca
gatgaagcactcaagctgggcattctagataaagttgtaaactcagacccggttgaagaa
gcaatcagatttgctcagagagtttcagatcaacctctagaatcccgtagactctgcaac
aagccaattcagagcttgcccaacatggacagcatttttagtgaggccctcttgaagatg
cggaggcagcaccctgggtgtcttgcacaggaggcttgtgtccgtgcagtccaggctgct
gtgcagtatccctatgaagtgggcatcaagaaggaggaggagctgtttctatatcttttg
caatcagggcaggctagagccctgcaatatgctttcttcgctgaaaggaaagcaaataag
tggtcaactccctccggagcatcgtggaaaacagcatcagcgcggcctgtctcctcagtt
ggtgttgttggcttgggaacaatgggccgaggcattgtcatttcttttgcaagggccagg
attcctgtgattgctgtagactcggacaaaaaccagctagcaactgcaaacaagatgata
acctctgtcttggaaaaagaagcctccaaaatgcaacagagcggccacccttggtcagga
ccaaaacccaggttaacttcatctgtgaaggagcttggtggtgtagatttagtcattgaa
gcagtatttgaggaaatgagcctgaagaagcaggtctttgctgaactctcagctgtgtgc
aaaccagaagcatttttgtgcactaatacttcagccctggatgttgatgagattgcttct
tccactgatcgtcctcacttggtcattggcacccacttcttttcgccagctcatgtcatg
aagttgttagaggttattcccagccaatactcttcccccactaccattgccactgttatg
aacttatcaaaaaagattaaaaagattggagtcgttgtaggcaactgttttggatttgtg
gggaatcgaatgttgaatccttactacaatcaggcatatttcttgttagaagaaggcagc
aaaccagaggaggtagatcaggtgctggaagagtttggttttaaaatgggaccttttaga
gtgtctgatcttgctgggttggatgtgggctggaaatctagaaaggggcaaggtcttact
ggacctacattgcttccaggaactcctgcccgaaaaaggggtaataggaggtactgccca
attcctgatgtgctctgtgaattaggacgatttggccagaagacaggtaagggttggtat
caatatgacaagccattgggtaggattcacaaacctgatccctggctttccaaattccta
tcacggtatagaaaaacccatcacattgaaccacgtaccattagccaggatgagatcctt
gaacgctgcttatattcacttatcaatgaagcattccgtatcttgggagaagggatagct
gctagcccagagcacattgatgttgtctatttacatggatatggatggccaaggcacaag
ggcgggcccatgttctatgcttccacagttgggttgcccacagttctagagaaattgcag
aaatattacaggcagaaccctgatattccccaactggagccaagtgactatctaaaaaaa
ctggcttctcagggaaaccctcccctgaaagaatggcaaagcttggcaggctcccctagc
agtaaattgtga

KEGG   Homo sapiens (human): 3030Help
Entry
3030              CDS       T01001                                 

Gene name
HADHA, ECHA, GBP, HADH, LCEH, LCHAD, MTPA, TP-ALPHA
Definition
(RefSeq) hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit alpha
  KO
K07515  enoyl-CoA hydratase / long-chain 3-hydroxyacyl-CoA dehydrogenase [EC:4.2.1.17 1.1.1.211]
Organism
hsa  Homo sapiens (human)
Pathway
hsa00062  Fatty acid elongation
hsa00071  Fatty acid degradation
hsa00280  Valine, leucine and isoleucine degradation
hsa00310  Lysine degradation
hsa00380  Tryptophan metabolism
hsa00410  beta-Alanine metabolism
hsa00640  Propanoate metabolism
hsa00650  Butanoate metabolism
hsa01100  Metabolic pathways
hsa01200  Carbon metabolism
hsa01212  Fatty acid metabolism
Module
hsa_M00032  Lysine degradation, lysine => saccharopine => acetoacetyl-CoA
hsa_M00085  Fatty acid elongation in mitochondria
hsa_M00087  beta-Oxidation
Network
nt06020  beta-Oxidation in mitochondria
nt06024  Valine, leucine and isoleucine degradation
  Element
N00766  HADHB deficiency in beta-oxidation
N00775  HADHA deficiency in beta-oxidation
N00804  beta-Oxidation
N00852  Valine degradation
N00853  ALDH6A1 deficiency in valine degradation
N00854  HIBCH deficiency in valine degradation
N00856  Isoleucine degradation
N00857  HSD17B10 deficiency in isoleucine degradation
Disease
H00489  LCHAD deficiency
H00525  Disorders of mitochondrial fatty-acid oxidation
H01352  Mitochondrial trifunctional protein deficiency
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09100 Metabolism
  09101 Carbohydrate metabolism
   00640 Propanoate metabolism
    3030 (HADHA)
   00650 Butanoate metabolism
    3030 (HADHA)
  09103 Lipid metabolism
   00062 Fatty acid elongation
    3030 (HADHA)
   00071 Fatty acid degradation
    3030 (HADHA)
  09105 Amino acid metabolism
   00280 Valine, leucine and isoleucine degradation
    3030 (HADHA)
   00310 Lysine degradation
    3030 (HADHA)
   00380 Tryptophan metabolism
    3030 (HADHA)
  09106 Metabolism of other amino acids
   00410 beta-Alanine metabolism
    3030 (HADHA)
Enzymes [BR:hsa01000]
 1. Oxidoreductases
  1.1  Acting on the CH-OH group of donors
   1.1.1  With NAD+ or NADP+ as acceptor
    1.1.1.211  long-chain-3-hydroxyacyl-CoA dehydrogenase
     3030 (HADHA)
 4. Lyases
  4.2  Carbon-oxygen lyases
   4.2.1  Hydro-lyases
    4.2.1.17  enoyl-CoA hydratase
     3030 (HADHA)
BRITE hierarchy
SSDB OrthologParalogGFIT
Motif
Pfam: 3HCDH_N ECH_1 3HCDH ECH_2
Motif
Other DBs
NCBI-GeneID: 3030
NCBI-ProteinID: NP_000173
OMIM: 600890
HGNC: 4801
Ensembl: ENSG00000084754
Vega: OTTHUMG00000096979
Pharos: P40939(Tbio)
UniProt: P40939 E9KL44
Structure
PDB: 

Position
2p23.3
AA seq 763 aa AA seqDB search
MVACRAIGILSRFSAFRILRSRGYICRNFTGSSALLTRTHINYGVKGDVAVVRINSPNSK
VNTLSKELHSEFSEVMNEIWASDQIRSAVLISSKPGCFIAGADINMLAACKTLQEVTQLS
QEAQRIVEKLEKSTKPIVAAINGSCLGGGLEVAISCQYRIATKDRKTVLGTPEVLLGALP
GAGGTQRLPKMVGVPAALDMMLTGRSIRADRAKKMGLVDQLVEPLGPGLKPPEERTIEYL
EEVAITFAKGLADKKISPKRDKGLVEKLTAYAMTIPFVRQQVYKKVEEKVRKQTKGLYPA
PLKIIDVVKTGIEQGSDAGYLCESQKFGELVMTKESKALMGLYHGQVLCKKNKFGAPQKD
VKHLAILGAGLMGAGIAQVSVDKGLKTILKDATLTALDRGQQQVFKGLNDKVKKKALTSF
ERDSIFSNLTGQLDYQGFEKADMVIEAVFEDLSLKHRVLKEVEAVIPDHCIFASNTSALP
ISEIAAVSKRPEKVIGMHYFSPVDKMQLLEIITTEKTSKDTSASAVAVGLKQGKVIIVVK
DGPGFYTTRCLAPMMSEVIRILQEGVDPKKLDSLTTSFGFPVGAATLVDEVGVDVAKHVA
EDLGKVFGERFGGGNPELLTQMVSKGFLGRKSGKGFYIYQEGVKRKDLNSDMDSILASLK
LPPKSEVSSDEDIQFRLVTRFVNEAVMCLQEGILATPAEGDIGAVFGLGFPPCLGGPFRF
VDLYGAQKIVDRLKKYEAAYGKQFTPCQLLADHANSPNKKFYQ
NT seq 2292 nt NT seq  +upstreamnt  +downstreamnt
atggtggcctgccgggcgattggcatcctcagccgcttttctgccttcaggatcctccgc
tcccgaggttatatatgccgcaattttacagggtcttctgctttgctgaccagaacccat
attaactatggagtcaaaggggatgtggcagttgttcgaattaactctcccaattcaaag
gtaaatacactgagtaaagagctacattcagagttctcagaagttatgaatgaaatctgg
gctagtgatcaaatcagaagtgccgtccttatctcatcaaagccaggctgctttattgca
ggtgctgatatcaacatgttagccgcttgcaagacccttcaagaagtaacacagctatca
caagaagcacagagaatagttgagaaacttgaaaagtccacaaagcctattgtggctgcc
atcaatggatcctgcctgggaggaggacttgaggttgccatttcatgccaatacagaata
gcaacaaaagacagaaaaacagtattaggtacccctgaagttttgctgggggccttacca
ggagcaggaggcacacaaaggctgcccaaaatggtgggtgtgcctgctgctttggacatg
atgctgactggtagaagcattcgtgcagacagggcaaagaaaatgggactggttgaccaa
ctggtggaacccctgggaccaggactaaaacctccagaggaacggacaatagaataccta
gaagaagttgcaattacttttgccaaaggactagctgataagaagatctctccaaagaga
gacaagggattggtggaaaaattgacagcgtatgccatgactattccatttgtcaggcaa
caggtttacaaaaaagtggaagaaaaagtgcgaaagcagactaaaggcctttatcctgca
cctctgaaaataattgatgtggtaaagactggaattgagcaagggagtgatgccggttat
ctctgtgaatctcagaaatttggagagcttgtaatgaccaaagaatcaaaggccttgatg
ggactctaccatggtcaggtcctgtgcaagaagaataaatttggagctccacagaaggat
gttaagcatctggctattcttggtgcagggctgatgggagcaggcatcgcccaagtctcc
gtggataaggggctaaagactatacttaaagatgccaccctcactgcgctagaccgagga
cagcaacaagtgttcaaaggattgaatgacaaagtgaagaagaaagctctaacatcattt
gaaagggattccatcttcagcaacttgactgggcagcttgattaccaaggttttgaaaag
gccgacatggtgattgaagctgtgtttgaggaccttagtcttaagcacagagtgctaaag
gaagtagaagcggtgattccagatcactgtatctttgccagtaacacatctgctctccca
atcagtgaaatcgctgctgtcagcaaaagacctgagaaggtgattggcatgcactacttc
tctcccgtggacaagatgcagctgctggagattatcacgaccgagaaaacttccaaagac
accagtgcttcagctgtagcagttggtctcaagcaggggaaggtcatcattgtggttaag
gatggacctggcttctatactaccaggtgtcttgcgcccatgatgtctgaagtcatccga
atcctccaggaaggagttgacccgaagaagctggattccctgaccacaagctttggcttt
cctgtgggtgccgccacactggtggatgaagttggtgtggatgtagcgaaacatgtggcg
gaagatctgggcaaagtctttggggagcggtttggaggtggaaacccagaactgctgaca
cagatggtgtccaagggcttcctaggtcgtaaatctgggaagggcttttacatctatcag
gagggtgtgaagaggaaggatttgaattctgacatggatagtattttagcgagtctgaag
ctgcctcctaagtctgaagtctcatcagacgaagacatccagttccgcctggtgacaaga
tttgtgaatgaggcagtcatgtgcctgcaagaggggatcttggccacacctgcagaggga
gacatcggagccgtctttgggcttggcttcccgccttgtctgggagggcctttccgcttt
gtggatctgtatggcgcccagaagatagtggaccggctcaagaaatatgaagctgcctat
ggaaaacagttcaccccatgccagctgctagctgaccatgctaacagccctaacaagaag
ttctaccagtga

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