Homo sapiens (human): 51611
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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)
BRITE hierarchy
SSDB
Ortholog
Paralog
Gene cluster
GFIT
Motif
Pfam:
TP_methylase
DUF7213
Motif
Other DBs
NCBI-GeneID:
51611
NCBI-ProteinID:
NP_001070862
OMIM:
611075
HGNC:
24270
Ensembl:
ENSG00000117543
UniProt:
Q9H2P9
B3KWP1
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All DBs
Position
1:complement(100989623..101025784)
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AA seq
285 aa
AA seq
DB search
MLYLIGLGLGDAKDITVKGLEVVRRCSRVYLEAYTSVLTVGKEALEEFYGRKLVVADREE
VEQEADNILKDADISDVAFLVVGDPFGATTHSDLVLRATKLGIPYRVIHNASIMNAVGCC
GLQLYKFGETVSIVFWTDTWRPESFFDKVKKNRQNGMHTLCLLDIKVKEQSLENLIKGRK
IYEPPRYMSVNQAAQQLLEIVQNQRIRGEEPAVTEETLCVGLARVGADDQKIAAGTLRQM
CTVDLGEPLHSLIITGGSIHPMEMEMLSLFSIPENSSESQSINGL
NT seq
858 nt
NT seq
+upstream
nt +downstream
nt
atgctttatctcatcgggttgggcctgggagatgccaaggacatcacagtcaagggcctg
gaagttgttagacgctgcagtcgagtgtatctggaagcctacacctcagtcctaactgta
gggaaggaagccttggaagagttttatggaagaaaattggttgttgctgatagagaagaa
gtggaacaagaagcagataatattttaaaggatgctgatatcagtgatgttgcattcctt
gtggttggtgatccatttggggccacaacacacagtgatcttgttctaagagcaacaaag
ctgggaattccttatagagttattcacaatgcctccataatgaatgctgtaggctgctgt
ggtttacagttatataagtttggagagacagtttctattgttttttggacagacacttgg
agaccagaaagcttctttgacaaagtgaagaagaacagacaaaatggcatgcacacatta
tgtttactagacatcaaagtaaaggagcagtctttggaaaatctaatcaagggaaggaag
atctatgaacctccacggtatatgagtgtaaaccaagcagcccagcagcttctggagatt
gttcaaaatcaaagaatacgaggagaagaaccagcagttaccgaggagacactttgtgtt
ggcttagccagggttggagccgacgaccagaaaattgcagcaggcactttaaggcaaatg
tgcactgtggacttgggagaaccattgcattccttgatcatcacaggaggcagcatacat
ccaatggagatggagatgctaagtctgttttccataccagaaaatagctcagaatctcaa
agcatcaatggactttga
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