KEGG   Homo sapiens (human): 83475
Entry
83475             CDS       T01001                                 
Symbol
DOHH, HLRC1, NEDMVIC, hDOHH
Name
(RefSeq) deoxyhypusine hydroxylase
  KO
K06072  deoxyhypusine monooxygenase [EC:1.14.99.29]
Organism
hsa  Homo sapiens (human)
Disease
H02461  Neurodevelopmental disorder with microcephaly
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09190 Not Included in Pathway or Brite
  09191 Unclassified: metabolism
   99980 Enzymes with EC numbers
    83475 (DOHH)
Enzymes [BR:hsa01000]
 1. Oxidoreductases
  1.14  Acting on paired donors, with incorporation or reduction of molecular oxygen
   1.14.99  Miscellaneous
    1.14.99.29  deoxyhypusine monooxygenase
     83475 (DOHH)
SSDB
Motif
Pfam: HEAT_2 HEAT_PBS HEAT HEAT_EZ DUF5691
Other DBs
NCBI-GeneID: 83475
NCBI-ProteinID: NP_001138637
OMIM: 611262
HGNC: 28662
Ensembl: ENSG00000129932
UniProt: Q9BU89
Structure
Position
19:complement(3490824..3500674)
AA seq 302 aa
MVTEQEVDAIGQTLVDPKQPLQARFRALFTLRGLGGPGAIAWISQAFDDDSALLKHELAY
CLGQMQDARAIPMLVDVLQDTRQEPMVRHEAGEALGAIGDPEVLEILKQYSSDPVIEVAE
TCQLAVRRLEWLQQHGGEPAAGPYLSVDPAPPAEERDVGRLREALLDESRPLFERYRAMF
ALRNAGGEEAALALAEGLHCGSALFRHEVGYVLGQLQHEAAVPQLAAALARCTENPMVRH
ECAEALGAIARPACLAALQAHADDPERVVRESCEVALDMYEHETGRAFQYADGLEQLRGA
PS
NT seq 909 nt   +upstreamnt  +downstreamnt
atggtgacggagcaggaggtggatgccatcgggcagacgctggtggaccccaagcagccc
ctgcaggcccgcttccgggcgctgttcacgctgcgtgggctcggcggcccaggcgccatt
gcatggatcagccaggccttcgatgacgattccgccctgctcaagcacgagctggcctac
tgcctgggccagatgcaggatgcccgcgccatccccatgctggtggacgtgctgcaagac
acccgtcaggagcccatggtgcgccatgaggcaggggaggccctgggggccatcggggac
ccggaagttctggagatcctgaagcagtattcctcggaccccgtcatcgaggtggccgag
acctgccagctggccgtgcgcaggctggagtggctgcagcagcacggcggggagccggcg
gcgggaccctacctctccgtggaccctgccccgccggctgaggagcgtgacgtggggcgc
ctgcgggaggcgctgctggatgagtcccggccgctcttcgagcgataccgcgccatgttc
gccctgcgcaacgcgggaggcgaggaggccgccctggcgctggccgagggtctgcactgt
gggagcgccctcttccgccacgaggtcggctacgtcctgggacagctgcagcacgaggcg
gcggtgccccagctggcggccgccctggcccgatgcaccgagaaccccatggtgcggcac
gagtgcgcggaggccctgggcgccattgcccggcccgcctgcctggccgcgctgcaggct
cacgcggacgacccagagcgcgtggtgcgtgagagctgcgaggtggctctggacatgtat
gagcacgagaccgggcgggccttccagtacgcggacggcctggagcagctgcgcggggcc
ccctcctag

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Ontology (2)   
   KEGG BRITE (2)   
Disease (3)   
   KEGG DISEASE (1)   
   OMIM (2)   
Chemical reaction (1)   
   KEGG ENZYME (1)   
Genome (1)   
   KEGG GENOME (1)   
Gene (26)   
   KEGG ORTHOLOGY (1)   
   RefGene (7)   
   NCBI-PROTEINID (1)   
   NCBI-Gene (1)   
   HGNC (1)   
   Ensembl (1)   
   RIKEN BRC-DNA (13)   
   OC (1)   
Protein sequence (6)   
   UniProt (1)   
   SWISS-PROT (1)   
   RefSeq(pep) (4)   
DNA sequence (14)   
   RefSeq(nuc) (4)   
   GenBank (5)   
   EMBL (5)   
3D Structure (2)   
   PDB (2)   
Protein domain (5)   
   Pfam (5)   
All databases (60)   

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