KEGG   Homo sapiens (human): 55217Help
Entry
55217             CDS       T01001                                 

Gene name
TMLHE, AUTSX6, BBOX2, TMLD, TMLH, TMLHED, XAP130
Definition
(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)
BRITE hierarchy
SSDB OrthologParalogGFIT
Motif
Pfam: TauD DUF971 CsiD
Motif
Other DBs
NCBI-GeneID: 55217
NCBI-ProteinID: NP_060666
OMIM: 300777
HGNC: 18308
Ensembl: ENSG00000185973
Vega: OTTHUMG00000022674
Pharos: Q9NVH6(Tbio)
UniProt: Q9NVH6
Position
Xq28
AA seq 421 aa AA seqDB search
MWYHRLSHLHSRLQDLLKGGVIYPALPQPNFKSLLPLAVHWHHTASKSLTCAWQQHEDHF
ELKYANTVMRFDYVWLRDHCRSASCYNSKTHQRSLDTASVDLCIKPKTIRLDETTLFFTW
PDGHVTKYDLNWLVKNSYEGQKQKVIQPRILWNAEIYQQAQVPSVDCQSFLETNEGLKKF
LQNFLLYGIAFVENVPPTQEHTEKLAERISLIRETIYGRMWYFTSDFSRGDTAYTKLALD
RHTDTTYFQEPCGIQVFHCLKHEGTGGRTLLVDGFYAAEQVLQKAPEEFELLSKVPLKHE
YIEDVGECHNHMIGIGPVLNIYPWNKELYLIRYNNYDRAVINTVPYDVVHRWYTAHRTLT
IELRRPENEFWVKLKPGRVLFIDNWRVLHGRECFTGYRQLCGCYLTRDDVLNTARLLGLQ
A
NT seq 1266 nt NT seq  +upstreamnt  +downstreamnt
atgtggtaccacagattgtcccacctacacagcaggcttcaggacttgctgaagggagga
gtcatatatccggcccttccacagcccaacttcaaaagcttacttcctttagctgtccat
tggcaccatacagcctccaagtctctgacttgtgcttggcagcaacatgaagatcatttt
gagctgaaatatgctaataccgtgatgcgctttgattacgtctggcttcgagaccactgc
cgctcagcatcgtgctacaactctaagactcaccagcgcagcctggatactgccagtgtg
gatttatgtatcaagccaaagaccattcgtctggatgagaccacactctttttcacttgg
ccagatggtcatgtgactaaatatgatttgaattggctggtgaaaaacagctatgaaggg
cagaaacaaaaagtcatccagcctagaatactatggaatgctgaaatctaccagcaagcc
caagttccatcggtagattgccagagcttcttagaaaccaacgagggactgaagaagttt
ctgcaaaactttctgctctatggaattgcattcgtagaaaatgtccctcccactcaagag
cacacagagaagttggcagaaaggatcagcttaatcagagaaaccatttatgggaggatg
tggtatttcacttcagacttctccagaggtgacactgcgtacaccaagctagctctggat
cggcacactgacactacctattttcaagagccctgtggcattcaagtgtttcattgtctt
aaacatgaaggaactggtggcaggacactgctagtagatggattctatgcagcagaacag
gtacttcaaaaggcacctgaggaatttgaactcctcagtaaagtgccattgaagcatgaa
tatattgaagatgttggagaatgtcacaaccacatgattgggattgggccagtcttaaat
atctacccatggaataaagagctgtatttgatcaggtacaacaactatgaccgggctgtc
atcaataccgttccttatgatgtcgtccatcgctggtatacagcacaccggactctaacg
atagagttgaggagacctgagaatgagttttgggtcaaactaaagcctggcagggtccta
tttatagacaactggcgtgtcctacatggcagggaatgcttcactggctaccgccaactg
tgtggctgctatttaacaagagatgatgtattaaacactgctcgcctcttggggcttcag
gcttaa

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Ontology (2)   
   KEGG BRITE (2)   
Pathway (2)   
   KEGG PATHWAY (2)   
Disease (3)   
   KEGG DISEASE (1)   
   OMIM (2)   
Chemical substance (6)   
   KEGG COMPOUND (6)   
Chemical reaction (2)   
   KEGG ENZYME (1)   
   KEGG REACTION (1)   
Genome (1)   
   KEGG GENOME (1)   
Gene (14)   
   KEGG ORTHOLOGY (1)   
   RefGene (4)   
   NCBI-PROTEINID (1)   
   NCBI-Gene (1)   
   HGNC (1)   
   Ensembl (1)   
   RIKEN BRC-DNA (2)   
   OC (1)   
   PHAROS (1)   
   VEGA (1)   
Protein sequence (6)   
   UniProt (1)   
   SWISS-PROT (1)   
   RefSeq(pep) (4)   
DNA sequence (25)   
   RefSeq(nuc) (5)   
   GenBank (10)   
   EMBL (10)   
Protein domain (3)   
   Pfam (3)   
All databases (64)   

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