KEGG   Homo sapiens (human): 51611
Entry
51611             CDS       T01001                                 
Symbol
DPH5, AD-018, CGI-30, HSPC143, NEDSFF, NPD015
Name
(RefSeq) diphthamide biosynthesis 5
  KO
K00586  diphthine methyl ester synthase [EC:2.1.1.314]
Organism
hsa  Homo sapiens (human)
Disease
H02460  Neurodevelopmental disorder with dysmorphic facies and skeletal anomalies
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09180 Brite Hierarchies
  09182 Protein families: genetic information processing
   03012 Translation factors [BR:hsa03012]
    51611 (DPH5)
Enzymes [BR:hsa01000]
 2. Transferases
  2.1  Transferring one-carbon groups
   2.1.1  Methyltransferases
    2.1.1.314  diphthine methyl ester synthase
     51611 (DPH5)
Translation factors [BR:hsa03012]
 Eukaryotic type
  Elongation factors
   Elongation associated factors
    51611 (DPH5)
SSDB
Motif
Pfam: TP_methylase DUF7213
Other DBs
NCBI-GeneID: 51611
NCBI-ProteinID: NP_001070862
OMIM: 611075
HGNC: 24270
Ensembl: ENSG00000117543
UniProt: Q9H2P9 B3KWP1
Position
1:complement(100989623..101025784)
AA seq 285 aa
MLYLIGLGLGDAKDITVKGLEVVRRCSRVYLEAYTSVLTVGKEALEEFYGRKLVVADREE
VEQEADNILKDADISDVAFLVVGDPFGATTHSDLVLRATKLGIPYRVIHNASIMNAVGCC
GLQLYKFGETVSIVFWTDTWRPESFFDKVKKNRQNGMHTLCLLDIKVKEQSLENLIKGRK
IYEPPRYMSVNQAAQQLLEIVQNQRIRGEEPAVTEETLCVGLARVGADDQKIAAGTLRQM
CTVDLGEPLHSLIITGGSIHPMEMEMLSLFSIPENSSESQSINGL
NT seq 858 nt   +upstreamnt  +downstreamnt
atgctttatctcatcgggttgggcctgggagatgccaaggacatcacagtcaagggcctg
gaagttgttagacgctgcagtcgagtgtatctggaagcctacacctcagtcctaactgta
gggaaggaagccttggaagagttttatggaagaaaattggttgttgctgatagagaagaa
gtggaacaagaagcagataatattttaaaggatgctgatatcagtgatgttgcattcctt
gtggttggtgatccatttggggccacaacacacagtgatcttgttctaagagcaacaaag
ctgggaattccttatagagttattcacaatgcctccataatgaatgctgtaggctgctgt
ggtttacagttatataagtttggagagacagtttctattgttttttggacagacacttgg
agaccagaaagcttctttgacaaagtgaagaagaacagacaaaatggcatgcacacatta
tgtttactagacatcaaagtaaaggagcagtctttggaaaatctaatcaagggaaggaag
atctatgaacctccacggtatatgagtgtaaaccaagcagcccagcagcttctggagatt
gttcaaaatcaaagaatacgaggagaagaaccagcagttaccgaggagacactttgtgtt
ggcttagccagggttggagccgacgaccagaaaattgcagcaggcactttaaggcaaatg
tgcactgtggacttgggagaaccattgcattccttgatcatcacaggaggcagcatacat
ccaatggagatggagatgctaagtctgttttccataccagaaaatagctcagaatctcaa
agcatcaatggactttga

  All links  
Disease (2)   
   OMIM (2)   
Gene (17)   
   RefGene (2)   
   NCBI-PROTEINID (1)   
   NCBI-Gene (1)   
   HGNC (1)   
   Ensembl (1)   
   RIKEN BRC-DNA (10)   
   OC (1)   
Protein sequence (18)   
   UniProt (2)   
   SWISS-PROT (1)   
   RefSeq(pep) (15)   
DNA sequence (49)   
   RefSeq(nuc) (15)   
   GenBank (17)   
   EMBL (17)   
Protein domain (2)   
   Pfam (2)   
All databases (88)   

Download RDF
DBGET integrated database retrieval system