KEGG   Homo sapiens (human): 79944
Entry
79944             CDS       T01001                                 
Symbol
L2HGDH, C14orf160, L2HGA
Name
(RefSeq) L-2-hydroxyglutarate dehydrogenase
  KO
K00109  2-hydroxyglutarate dehydrogenase [EC:1.1.99.2]
Organism
hsa  Homo sapiens (human)
Pathway
hsa00650  Butanoate metabolism
hsa01100  Metabolic pathways
Disease
H01280  L-2-hydroxyglutaric aciduria
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09100 Metabolism
  09101 Carbohydrate metabolism
   00650 Butanoate metabolism
    79944 (L2HGDH)
Enzymes [BR:hsa01000]
 1. Oxidoreductases
  1.1  Acting on the CH-OH group of donors
   1.1.99  With unknown physiological acceptors
    1.1.99.2  L-2-hydroxyglutarate dehydrogenase
     79944 (L2HGDH)
SSDB
Motif
Pfam: DAO Pyr_redox_2 Thi4 NAD_binding_8 Mqo NAD_binding_9 Lycopene_cycl Trp_halogenase
Other DBs
NCBI-GeneID: 79944
NCBI-ProteinID: NP_079160
OMIM: 609584
HGNC: 20499
Ensembl: ENSG00000087299
UniProt: Q9H9P8
Position
14:complement(50242434..50312229)
AA seq 463 aa
MVPALRYLVGACGRARGLFAGGSPGACGFASGRPRPLCGGSRSASTSSFDIVIVGGGIVG
LASARALILRHPSLSIGVLEKEKDLAVHQTGHNSGVIHSGIYYKPESLKAKLCVQGAALL
YEYCQQKGISYKQCGKLIVAVEQEEIPRLQALYEKGLQNGVPGLRLIQQEDIKKKEPYCR
GLMAIDCPHTGIVDYRQVALSFAQDFQEAGGSVLTNFEVKGIEMAKESPSRSIDGMQYPI
VIKNTKGEEIRCQYVVTCAGLYSDRISELSGCTPDPRIVPFRGDYLLLKPEKCYLVKGNI
YPVPDSRFPFLGVHFTPRMDGSIWLGPNAVLAFKREGYRPFDFSATDVMDIIINSGLIKL
ASQNFSYGVTEMYKACFLGATVKYLQKFIPEITISDILRGPAGVRAQALDRDGNLVEDFV
FDAGVGDIGNRILHVRNAPSPAATSSIAISGMIADEVQQRFEL
NT seq 1392 nt   +upstreamnt  +downstreamnt
atggtgccagcgctgcgttatttggttggtgcctgcggacgggcccgcgggcttttcgcc
ggtggctcccctggggcgtgcgggttcgcgtctgggaggccaagaccgctgtgtggaggt
agccgcagcgccagcaccagctcatttgatatagtcatcgttggtggcggaattgtgggg
cttgcctctgccagagcactcatcctgcgacatccatcactttctattggtgttctggaa
aaggagaaagatttagctgttcaccagactggacataacagtggtgtcatacatagtgga
atttattataaacctgagtctctgaaagccaaattatgtgtacaaggtgcagccctcctc
tatgagtactgtcagcaaaagggaatttcctacaagcagtgtggcaagcttatagtagct
gttgaacaagaagaaattcccagacttcaggccctatatgagaaaggcctccagaatggt
gtcccgggcctgaggctgatccagcaggaggatataaaaaagaaggagccatattgtagg
ggtctaatggctattgattgtccacatactggcattgtggactatcggcaggtggctttg
tcatttgcccaggatttccaagaagcaggtggctctgtcttgaccaattttgaagtaaaa
ggtattgaaatggctaaagaaagtccttcaagaagtatagatggaatgcaatatccaatt
gttataaagaatacaaagggagaggaaattcgatgtcagtatgttgtgacatgtgcagga
ctttactcagaccgtatttcagagttgagtggctgcactcctgatcctcgaattgtacca
ttccggggagattacctgcttttgaagccagaaaaatgttatcttgtaaaaggaaatatt
tatccggtcccagatagccggtttcctttcctaggagttcacttcacaccaaggatggat
ggcagtatttggctagggcctaatgcagttcttgcctttaaacgagagggttacagaccc
tttgacttcagtgccacagatgttatggatataattatcaatagtggcttgattaaactg
gcatcccagaatttttcctatggagttactgaaatgtataaagcatgttttcttggtgca
acagtgaagtatcttcaaaaattcatccctgaaattactatcagtgatatacttaggggc
ccagctggagtaagagcccaggccctggatagagatggaaatctggtagaagattttgta
tttgatgcaggagttggggatattggaaatcgcattcttcatgtgagaaatgcaccttct
cctgctgctacttcttccattgcaatttctggaatgattgcagatgaagtacaacaaaga
tttgaattataa

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Ontology (2)   
   KEGG BRITE (2)   
Pathway (2)   
   KEGG PATHWAY (2)   
Disease (3)   
   KEGG DISEASE (1)   
   OMIM (2)   
Chemical substance (4)   
   KEGG COMPOUND (4)   
Chemical reaction (2)   
   KEGG ENZYME (1)   
   KEGG REACTION (1)   
Genome (1)   
   KEGG GENOME (1)   
Gene (10)   
   KEGG ORTHOLOGY (1)   
   RefGene (3)   
   NCBI-PROTEINID (1)   
   NCBI-Gene (1)   
   HGNC (1)   
   Ensembl (1)   
   RIKEN BRC-DNA (1)   
   OC (1)   
Protein sequence (20)   
   UniProt (1)   
   SWISS-PROT (1)   
   RefSeq(pep) (18)   
DNA sequence (35)   
   RefSeq(nuc) (21)   
   GenBank (7)   
   EMBL (7)   
Protein domain (8)   
   Pfam (8)   
All databases (87)   

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