KEGG   Homo sapiens (human): 55217
Entry
55217             CDS       T01001                                 
Symbol
TMLHE, AUTSX6, BBOX2, TMLD, TMLH, TMLHED, XAP130
Name
(RefSeq) trimethyllysine hydroxylase, epsilon
  KO
K00474  trimethyllysine dioxygenase [EC:1.14.11.8]
Organism
hsa  Homo sapiens (human)
Pathway
hsa00310  Lysine degradation
hsa01100  Metabolic pathways
Disease
H02111  Autism
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09100 Metabolism
  09105 Amino acid metabolism
   00310 Lysine degradation
    55217 (TMLHE)
Enzymes [BR:hsa01000]
 1. Oxidoreductases
  1.14  Acting on paired donors, with incorporation or reduction of molecular oxygen
   1.14.11  With 2-oxoglutarate as one donor, and incorporation of one atom of oxygen into each donor
    1.14.11.8  trimethyllysine dioxygenase
     55217 (TMLHE)
SSDB
Motif
Pfam: TauD GBBH-like_N CsiD DUF6422
Other DBs
NCBI-GeneID: 55217
NCBI-ProteinID: NP_060666
OMIM: 300777
HGNC: 18308
Ensembl: ENSG00000185973
UniProt: Q9NVH6
Position
X:complement(155489011..155612952)
AA seq 421 aa
MWYHRLSHLHSRLQDLLKGGVIYPALPQPNFKSLLPLAVHWHHTASKSLTCAWQQHEDHF
ELKYANTVMRFDYVWLRDHCRSASCYNSKTHQRSLDTASVDLCIKPKTIRLDETTLFFTW
PDGHVTKYDLNWLVKNSYEGQKQKVIQPRILWNAEIYQQAQVPSVDCQSFLETNEGLKKF
LQNFLLYGIAFVENVPPTQEHTEKLAERISLIRETIYGRMWYFTSDFSRGDTAYTKLALD
RHTDTTYFQEPCGIQVFHCLKHEGTGGRTLLVDGFYAAEQVLQKAPEEFELLSKVPLKHE
YIEDVGECHNHMIGIGPVLNIYPWNKELYLIRYNNYDRAVINTVPYDVVHRWYTAHRTLT
IELRRPENEFWVKLKPGRVLFIDNWRVLHGRECFTGYRQLCGCYLTRDDVLNTARLLGLQ
A
NT seq 1266 nt   +upstreamnt  +downstreamnt
atgtggtaccacagattgtcccacctacacagcaggcttcaggacttgctgaagggagga
gtcatatatccggcccttccacagcccaacttcaaaagcttacttcctttagctgtccat
tggcaccatacagcctccaagtctctgacttgtgcttggcagcaacatgaagatcatttt
gagctgaaatatgctaataccgtgatgcgctttgattacgtctggcttcgagaccactgc
cgctcagcatcgtgctacaactctaagactcaccagcgcagcctggatactgccagtgtg
gatttatgtatcaagccaaagaccattcgtctggatgagaccacactctttttcacttgg
ccagatggtcatgtgactaaatatgatttgaattggctggtgaaaaacagctatgaaggg
cagaaacaaaaagtcatccagcctagaatactatggaatgctgaaatctaccagcaagcc
caagttccatcggtagattgccagagcttcttagaaaccaacgagggactgaagaagttt
ctgcaaaactttctgctctatggaattgcattcgtagaaaatgtccctcccactcaagag
cacacagagaagttggcagaaaggatcagcttaatcagagaaaccatttatgggaggatg
tggtatttcacttcagacttctccagaggtgacactgcgtacaccaagctagctctggat
cggcacactgacactacctattttcaagagccctgtggcattcaagtgtttcattgtctt
aaacatgaaggaactggtggcaggacactgctagtagatggattctatgcagcagaacag
gtacttcaaaaggcacctgaggaatttgaactcctcagtaaagtgccattgaagcatgaa
tatattgaagatgttggagaatgtcacaaccacatgattgggattgggccagtcttaaat
atctacccatggaataaagagctgtatttgatcaggtacaacaactatgaccgggctgtc
atcaataccgttccttatgatgtcgtccatcgctggtatacagcacaccggactctaacg
atagagttgaggagacctgagaatgagttttgggtcaaactaaagcctggcagggtccta
tttatagacaactggcgtgtcctacatggcagggaatgcttcactggctaccgccaactg
tgtggctgctatttaacaagagatgatgtattaaacactgctcgcctcttggggcttcag
gcttaa

  All links  
Disease (2)   
   OMIM (2)   
Gene (11)   
   RefGene (4)   
   NCBI-PROTEINID (1)   
   NCBI-Gene (1)   
   HGNC (1)   
   Ensembl (1)   
   RIKEN BRC-DNA (2)   
   OC (1)   
Protein sequence (14)   
   UniProt (1)   
   SWISS-PROT (1)   
   RefSeq(pep) (12)   
DNA sequence (32)   
   RefSeq(nuc) (12)   
   GenBank (10)   
   EMBL (10)   
Protein domain (4)   
   Pfam (4)   
All databases (63)   

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