Homo sapiens (human): 1801 Help 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) BRITE hierarchy SSDB OrthologParalogGene clusterGFIT Motif Pfam:  Diphthamide_syn Motif Other DBs NCBI-GeneID:  1801 NCBI-ProteinID:  NP_001374 OMIM:  603527 HGNC:  3003 Ensembl:  ENSG00000108963 UniProt:  Q9BZG8 LinkDB All DBs Position 17:2030112..2043898 Genome browser AA seq 438 aa AA seqDB search MAALVVSGAAEQGGRDGPGRGRAPRGRVANQIPPEILKNPQLQAAIRVLPSNYNFEIPKT IWRIQQAQAKKVALQMPEGLLLFACTIVDILERFTEAEVMVMGDVTYGACCVDDFTARAL GADFLVHYGHSCLIPMDTSAQDFRVLYVFVDIRIDTTHLLDSLRLTFPPATALALVSTIQ FVSTLQAAAQELKAEYRVSVPQCKPLSPGEILGCTSPRLSKEVEAVVYLGDGRFHLESVM IANPNVPAYRYDPYSKVLSREHYDHQRMQAARQEAIATARSAKSWGLILGTLGRQGSPKI LEHLESRLRALGLSFVRLLLSEIFPSKLSLLPEVDVWVQVACPRLSIDWGTAFPKPLLTP YEAAVALRDISWQQPYPMDFYAGSSLGPWTVNHGQDRRPHAPGRPARGKVQEGSARPPSA VACEDCSCRDEKVAPLAP NT seq 1317 nt NT seq  +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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