KEGG   Homo sapiens (human): 1801
Entry
1801              CDS       T01001                                 
Symbol
DPH1, DEDSSH, DPH2L, DPH2L1, OVCA1
Name
(RefSeq) diphthamide biosynthesis 1
  KO
K07561  2-(3-amino-3-carboxypropyl)histidine synthase [EC:2.5.1.108]
Organism
hsa  Homo sapiens (human)
Disease
H02368  Developmental delay with short stature, dysmorphic facial features, and sparse hair
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09180 Brite Hierarchies
  09182 Protein families: genetic information processing
   03012 Translation factors [BR:hsa03012]
    1801 (DPH1)
Enzymes [BR:hsa01000]
 2. Transferases
  2.5  Transferring alkyl or aryl groups, other than methyl groups
   2.5.1  Transferring alkyl or aryl groups, other than methyl groups (only sub-subclass identified to date)
    2.5.1.108  2-(3-amino-3-carboxypropyl)histidine synthase
     1801 (DPH1)
Translation factors [BR:hsa03012]
 Eukaryotic type
  Elongation factors
   Elongation associated factors
    1801 (DPH1)
SSDB
Motif
Pfam: Diphthamide_syn
Other DBs
NCBI-GeneID: 1801
NCBI-ProteinID: NP_001374
OMIM: 603527
HGNC: 3003
Ensembl: ENSG00000108963
UniProt: Q9BZG8
Position
17:2030112..2043898
AA seq 438 aa
MAALVVSGAAEQGGRDGPGRGRAPRGRVANQIPPEILKNPQLQAAIRVLPSNYNFEIPKT
IWRIQQAQAKKVALQMPEGLLLFACTIVDILERFTEAEVMVMGDVTYGACCVDDFTARAL
GADFLVHYGHSCLIPMDTSAQDFRVLYVFVDIRIDTTHLLDSLRLTFPPATALALVSTIQ
FVSTLQAAAQELKAEYRVSVPQCKPLSPGEILGCTSPRLSKEVEAVVYLGDGRFHLESVM
IANPNVPAYRYDPYSKVLSREHYDHQRMQAARQEAIATARSAKSWGLILGTLGRQGSPKI
LEHLESRLRALGLSFVRLLLSEIFPSKLSLLPEVDVWVQVACPRLSIDWGTAFPKPLLTP
YEAAVALRDISWQQPYPMDFYAGSSLGPWTVNHGQDRRPHAPGRPARGKVQEGSARPPSA
VACEDCSCRDEKVAPLAP
NT seq 1317 nt   +upstreamnt  +downstreamnt
atggcggcgctggtcgtatccggggcagcggagcagggcggccgagacggccctggcaga
ggtcgggcccctcggggccgcgtggccaatcagatcccccctgagatcctgaagaaccct
cagctgcaggcagcaatccgggtcctgccttccaactacaactttgagatccccaagacc
atctggaggatccaacaagcccaggccaagaaggtggccttgcaaatgccggaaggcctc
ctcctctttgcctgtaccattgtggatatcttggaaaggttcacggaggccgaagtgatg
gtgatgggtgacgtgacctacggggcttgctgtgtggatgacttcacagcgagggccctg
ggagctgacttcttggtgcactacggccacagttgcctgattcccatggacacctcggcc
caagacttccgggtgctgtacgtctttgtggacatccggatagacactacacacctcctg
gactctctccgcctcacctttcccccagccactgcccttgccctggtcagcaccattcag
tttgtgtcgaccttgcaggcagccgcccaggagctgaaagccgagtatcgtgtgagtgtc
ccacagtgcaagcccctgtcccctggagagatcctgggctgcacatccccccgactgtcc
aaagaggtggaggccgttgtgtatcttggagatggccgcttccatctggagtctgtcatg
attgccaaccccaatgtccccgcttaccggtatgacccatatagcaaagtcctatccaga
gaacactatgaccaccagcgcatgcaggctgctcgccaagaagccatagccactgcccgc
tcagctaagtcctggggccttattctgggcactttgggccgccagggcagtcctaagatc
ctggagcacctggaatctcgactccgagccttgggcctttcctttgtgaggctgctgctc
tctgagatcttccccagcaagcttagcctacttcctgaggtggatgtgtgggtgcaggtg
gcatgtccacgtctctccattgactggggcacagccttccccaagccgctgctgacaccc
tatgaggcggccgtggctctgagggacatttcctggcagcagccctacccgatggacttc
tacgctggcagctccttggggccctggacggtgaaccacggccaggaccgccgtccccac
gccccgggccggcccgcgcgggggaaggtgcaggaggggtccgcgcgtcccccttcggcc
gtggcttgcgaggactgcagctgcagggacgagaaggtggcgccgctggctccttga

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Ontology (3)   
   KEGG BRITE (3)   
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 (13)   
   KEGG ORTHOLOGY (1)   
   RefGene (6)   
   NCBI-PROTEINID (1)   
   NCBI-Gene (1)   
   HGNC (1)   
   Ensembl (1)   
   RIKEN BRC-DNA (1)   
   OC (1)   
Protein sequence (6)   
   UniProt (1)   
   SWISS-PROT (1)   
   RefSeq(pep) (4)   
DNA sequence (39)   
   RefSeq(nuc) (7)   
   GenBank (16)   
   EMBL (16)   
Protein domain (1)   
   Pfam (1)   
All databases (72)   

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