DPH5 (diphthamide biosynthesis 5)

Gene

• Entrez ID: 51611
• Gene name: Diphthamide biosynthesis 5
• Gene symbol: DPH5
• Synonyms (NCBI Gene): AD-018, CGI-30, HSPC143, NEDSFF, NPD015
• Chromosome: 1
• Chromosome location: 1p21.2
• Summary: This gene encodes a component of the diphthamide synthesis pathway. Diphthamide is a post-translationally modified histidine residue found only on translation elongation factor 2. It is conserved from archaebacteria to humans, and is targeted by diphtheri

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT022425	hsa-miR-124-3p	Microarray	18668037
MIRT052597	hsa-let-7a-5p	CLASH	23622248
MIRT039181	hsa-miR-769-5p	CLASH	23622248
MIRT944039	hsa-miR-3163	CLIP-seq
MIRT944040	hsa-miR-340	CLIP-seq
MIRT944041	hsa-miR-4695-3p	CLIP-seq
MIRT944042	hsa-miR-548aa	CLIP-seq
MIRT944043	hsa-miR-15a	CLIP-seq
MIRT944044	hsa-miR-15b	CLIP-seq
MIRT944045	hsa-miR-16	CLIP-seq
MIRT944046	hsa-miR-195	CLIP-seq
MIRT944047	hsa-miR-424	CLIP-seq
MIRT944048	hsa-miR-4524	CLIP-seq
MIRT944049	hsa-miR-497	CLIP-seq
MIRT944050	hsa-miR-503	CLIP-seq
MIRT944051	hsa-miR-646	CLIP-seq
MIRT2387090	hsa-miR-128	CLIP-seq
MIRT2387091	hsa-miR-27a	CLIP-seq
MIRT2387092	hsa-miR-27b	CLIP-seq
MIRT2387093	hsa-miR-3652	CLIP-seq
MIRT2387094	hsa-miR-3692	CLIP-seq
MIRT2387095	hsa-miR-4430	CLIP-seq
MIRT2387096	hsa-miR-4505	CLIP-seq
MIRT2387097	hsa-miR-4717-3p	CLIP-seq
MIRT2387090	hsa-miR-128	CLIP-seq
MIRT2448505	hsa-miR-140-3p	CLIP-seq
MIRT2387091	hsa-miR-27a	CLIP-seq
MIRT2387092	hsa-miR-27b	CLIP-seq
MIRT2387093	hsa-miR-3652	CLIP-seq
MIRT2387094	hsa-miR-3692	CLIP-seq
MIRT2448506	hsa-miR-4275	CLIP-seq
MIRT2448507	hsa-miR-4313	CLIP-seq
MIRT2387095	hsa-miR-4430	CLIP-seq
MIRT2448508	hsa-miR-4493	CLIP-seq
MIRT2387096	hsa-miR-4505	CLIP-seq
MIRT2448509	hsa-miR-4646-5p	CLIP-seq
MIRT2387097	hsa-miR-4717-3p	CLIP-seq
MIRT2448510	hsa-miR-4747-5p	CLIP-seq
MIRT2387090	hsa-miR-128	CLIP-seq
MIRT2519040	hsa-miR-133a	CLIP-seq
MIRT2519041	hsa-miR-133b	CLIP-seq
MIRT2387091	hsa-miR-27a	CLIP-seq
MIRT2387092	hsa-miR-27b	CLIP-seq
MIRT2519042	hsa-miR-3064-3p	CLIP-seq
MIRT2519043	hsa-miR-3180-5p	CLIP-seq
MIRT2519044	hsa-miR-3185	CLIP-seq
MIRT2519045	hsa-miR-3614-5p	CLIP-seq
MIRT2387093	hsa-miR-3652	CLIP-seq
MIRT2519046	hsa-miR-3663-5p	CLIP-seq
MIRT2519047	hsa-miR-3664-3p	CLIP-seq
MIRT2387094	hsa-miR-3692	CLIP-seq
MIRT2387095	hsa-miR-4430	CLIP-seq
MIRT2448508	hsa-miR-4493	CLIP-seq
MIRT2519048	hsa-miR-4496	CLIP-seq
MIRT2387096	hsa-miR-4505	CLIP-seq
MIRT2519049	hsa-miR-4527	CLIP-seq
MIRT2448509	hsa-miR-4646-5p	CLIP-seq
MIRT2387097	hsa-miR-4717-3p	CLIP-seq
MIRT2519050	hsa-miR-4740-3p	CLIP-seq
MIRT2448510	hsa-miR-4747-5p	CLIP-seq
MIRT2519051	hsa-miR-627	CLIP-seq
MIRT2519052	hsa-miR-653	CLIP-seq
MIRT2519053	hsa-miR-873	CLIP-seq
MIRT2679436	hsa-miR-1262	CLIP-seq
MIRT2387090	hsa-miR-128	CLIP-seq
MIRT2679437	hsa-miR-1293	CLIP-seq
MIRT2519040	hsa-miR-133a	CLIP-seq
MIRT2519041	hsa-miR-133b	CLIP-seq
MIRT2387091	hsa-miR-27a	CLIP-seq
MIRT2387092	hsa-miR-27b	CLIP-seq
MIRT2519042	hsa-miR-3064-3p	CLIP-seq
MIRT2519043	hsa-miR-3180-5p	CLIP-seq
MIRT2519045	hsa-miR-3614-5p	CLIP-seq
MIRT2387093	hsa-miR-3652	CLIP-seq
MIRT2519046	hsa-miR-3663-5p	CLIP-seq
MIRT2519047	hsa-miR-3664-3p	CLIP-seq
MIRT2679438	hsa-miR-3672	CLIP-seq
MIRT2387094	hsa-miR-3692	CLIP-seq
MIRT2387095	hsa-miR-4430	CLIP-seq
MIRT2679439	hsa-miR-4450	CLIP-seq
MIRT2679440	hsa-miR-4483	CLIP-seq
MIRT2448508	hsa-miR-4493	CLIP-seq
MIRT2519048	hsa-miR-4496	CLIP-seq
MIRT2387096	hsa-miR-4505	CLIP-seq
MIRT2519049	hsa-miR-4527	CLIP-seq
MIRT2448509	hsa-miR-4646-5p	CLIP-seq
MIRT2679441	hsa-miR-4701-3p	CLIP-seq
MIRT2387097	hsa-miR-4717-3p	CLIP-seq
MIRT2448510	hsa-miR-4747-5p	CLIP-seq
MIRT2679442	hsa-miR-491-5p	CLIP-seq
MIRT2519051	hsa-miR-627	CLIP-seq
MIRT2519052	hsa-miR-653	CLIP-seq
MIRT2519053	hsa-miR-873	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005829	Component	Cytosol	IEA
GO:0005829	Component	Cytosol	TAS
GO:0008168	Function	Methyltransferase activity	IEA
GO:0016740	Function	Transferase activity	IEA
GO:0017183	Process	Protein histidyl modification to diphthamide	IEA
GO:0017183	Process	Protein histidyl modification to diphthamide	ISS
GO:0017183	Process	Protein histidyl modification to diphthamide	NAS	15485916
GO:0017183	Process	Protein histidyl modification to diphthamide	TAS
GO:0032259	Process	Methylation	IEA
GO:0141133	Function	Diphthine methyl ester synthase activity	EXP	3346227
GO:0141133	Function	Diphthine methyl ester synthase activity	IEA
GO:0141133	Function	Diphthine methyl ester synthase activity	NAS	15485916

Other IDs

• MIM: 611075
• HGNC: 24270
• e!Ensembl: ENSG00000117543

Protein

• UniProt ID: Q9H2P9
• Protein name: Diphthine methyl ester synthase (EC 2.1.1.314) (Diphthamide biosynthesis methyltransferase)
• Protein function: S-adenosyl-L-methionine-dependent methyltransferase that catalyzes four methylations of the modified target histidine residue in translation elongation factor 2 (EF-2), to form an intermediate called diphthine methyl ester. The four successive m
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00590	TP_methylase	1 → 241	Tetrapyrrole (Corrin/Porphyrin) Methylases	Domain

• Sequence:

  MLYLIGLGLGDAKDITVKGLEVVRRCSRVYLEAYTSVLTVGKEALEEFYGRKLVVADREE
  VEQEADNILKDADISDVAFLVVGDPFGATTHSDLVLRATKLGIPYRVIHNASIMNAVGCC
  GLQLYKFGETVSIVFWTDTWRPESFFDKVKKNRQNGMHTLCLLDIKVKEQSLENLIKGRK
  IYEPPRYMSVNQAAQQLLEIVQNQRIRGEEPAVTEETLCVGLARVGADDQKIAAGTLRQM
  CTVDLGEPLHSLIITGGSIHPMEMEMLSLFSIPENSSESQSINGL

• Sequence length: 285

Pathways

Reactome:

Synthesis of diphthamide-EEF2

Associated diseases

Causal
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Neurodevelopmental disorder with short stature, prominent forehead, and feeding difficulties	Likely pathogenic; Pathogenic	rs746680777, rs376566442, rs368593058	RCV002287886 RCV002287887 RCV002287888

Associations from Text Mining
Disease Name	Relationship Type	References
Fibrocartilaginous embolism	Associate	39953636
Intervertebral Disc Degeneration	Associate	39953636