KEGG   Homo sapiens (human): 1802
Entry
1802              CDS       T01001                                 
Symbol
DPH2, DEDSSH2, DPH2L2
Name
(RefSeq) diphthamide biosynthesis 2
  KO
K17866  diphthamide biosynthesis protein 2
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]
    1802 (DPH2)
Translation factors [BR:hsa03012]
 Eukaryotic type
  Elongation factors
   Elongation associated factors
    1802 (DPH2)
SSDB
Motif
Pfam: Diphthamide_syn
Other DBs
NCBI-GeneID: 1802
NCBI-ProteinID: NP_001375
OMIM: 603456
HGNC: 3004
Ensembl: ENSG00000132768
UniProt: Q9BQC3
Position
1:43970010..43973369
AA seq 489 aa
MESMFSSPAEAALQRETGVPGLLTPLPDLDGVYELERVAGFVRDLGCERVALQFPDQLLG
DAVAVAARLEETTGSKMFILGDTAYGSCCVDVLGAEQAGAQALIHFGPACLSPPARPLPV
AFVLRQRSVALELCVKAFEAQNPDPKAPVVLLSEPACAHALEALATLLRPRYLDLLVSSP
AFPQPVGSLSPEPMPLERFGRRFPLAPGRRLEEYGAFYVGGSKASPDPDLDPDLSRLLLG
WAPGQPFSSCCPDTGKTQDEGARAGRLRARRRYLVERARDARVVGLLAGTLGVAQHREAL
AHLRNLTQAAGKRSYVLALGRPTPAKLANFPEVDVFVLLACPLGALAPQLSGSFFQPILA
PCELEAACNPAWPPPGLAPHLTHYADLLPGSPFHVALPPPESELWETPDVSLITGDLRPP
PAWKSSNDHGSLALTPRPQLELAESSPAASFLSSRSWQGLEPRLGQTPVTEAVSGRRGIA
IAYEDEGSG
NT seq 1470 nt   +upstreamnt  +downstreamnt
atggagtcgatgtttagcagccctgccgaggcggcgctgcagcgagagaccggggtgcca
ggactgcttactcctcttccggacctggacggagtgtacgagctggagcgagtcgctgga
tttgtccgcgacctggggtgtgaacgagttgccttgcagttccctgaccagctattggga
gatgctgtggctgtggctgcacgactggaggagacgacagggtcaaagatgttcattctg
ggtgacacagcctacggcagctgctgcgtggatgtgctgggtgctgagcaagctggagct
caggctctcatacattttggccctgcctgcttaagccctccagcccgcccactgcccgtt
gccttcgtgcttcgtcaacgttctgtggccttggagctctgtgtcaaggcctttgaggcc
cagaacccagaccccaaagcgcctgtggtgctgctgagtgagccggcctgtgcccatgcc
ctggaggctttggctactctcctgcgcccacggtacctggacctgctagtctccagccca
gcttttccccaaccagtgggttccctgagtccagagcctatgcccctagagcgttttggg
cgccgcttcccccttgccccagggaggcgtctagaagagtatggtgccttctatgtaggg
ggctctaaggccagccctgacccagaccttgacccagacctgagtcggctgctcttgggg
tgggcaccaggtcaacccttctcctcctgctgtccagatacagggaagactcaggatgag
ggtgcccgggctggacggctaagggcacgaagacgatatctggtagagagggccagagat
gcccgcgtggtagggctgctggcaggcacactgggtgtagcccaacaccgtgaggcactg
gcccacttgcggaacctgactcaggctgctggcaagcgtagctatgtgttggccctgggg
cggcccacccctgccaagcttgccaacttccctgaggtggatgtctttgtgctattagcc
tgtcctctgggtgctctagccccccagctttctggtagcttcttccagcctatactggca
ccatgtgagctggaagctgcctgcaaccctgcctggccacctccaggcctggctccccac
ctcacacattatgcggacttattgcctggctctcccttccacgtggctctcccaccacct
gagtcagagctgtgggaaaccccagacgtgtcactcattactggagatctccgaccccca
cctgcctggaagtcatcaaatgatcatggaagcttggctctgaccccacggccccagctg
gagctggctgagagcagtcctgcagcctcattccttagttcccggagctggcaagggctg
gagccccgcctgggtcagacgccagtgacagaagctgtgagtggaagacgagggattgcc
atcgcctatgaggatgagggaagcggctga

  All links  
Ontology (2)   
   KEGG BRITE (2)   
Disease (3)   
   KEGG DISEASE (1)   
   OMIM (2)   
Genome (1)   
   KEGG GENOME (1)   
Gene (18)   
   KEGG ORTHOLOGY (1)   
   RefGene (7)   
   NCBI-PROTEINID (1)   
   NCBI-Gene (1)   
   HGNC (1)   
   Ensembl (1)   
   RIKEN BRC-DNA (5)   
   OC (1)   
Protein sequence (15)   
   UniProt (1)   
   SWISS-PROT (1)   
   RefSeq(pep) (13)   
DNA sequence (52)   
   RefSeq(nuc) (14)   
   GenBank (19)   
   EMBL (19)   
Protein domain (1)   
   Pfam (1)   
All databases (92)   

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