Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	1801
Gene name	Diphthamide biosynthesis 1
Gene symbol	DPH1
Synonyms (NCBI Gene)	DEDSSHDPH2LDPH2L1OVCA1
Chromosome	17
Chromosome location	17p13.3
Summary	The protein encoded by this gene is an enzyme involved in the biosynthesis of diphthamide, a modified histidine found only in elongation factor-2 (EEF2). Diphthamide residues in EEF2 are targeted for ADP-ribosylation by diphtheria toxin and Pseudomonas ex

Show/Hide all (5)

SNP ID	Visualize variation	Clinical significance	Consequence
rs200530055	T>C	Likely-pathogenic, uncertain-significance	Non coding transcript variant, intron variant, coding sequence variant, missense variant
rs730882250	T>C,G	Pathogenic, likely-pathogenic	Coding sequence variant, missense variant, non coding transcript variant
rs756128712	G>-	Pathogenic	Coding sequence variant, frameshift variant, 5 prime UTR variant, non coding transcript variant
rs757167361	T>A,C,G	Likely-pathogenic, pathogenic	Coding sequence variant, missense variant, 5 prime UTR variant, initiator codon variant, non coding transcript variant
rs763506909	->T	Likely-pathogenic	Coding sequence variant, frameshift variant, non coding transcript variant

Show/Hide all (38)

miRTarBase ID	miRNA	Experiments	Reference
MIRT004180	hsa-miR-197-3p	Microarray	16822819
MIRT041212	hsa-miR-193b-3p	CLASH	23622248
MIRT038600	hsa-miR-106b-3p	CLASH	23622248
MIRT943845	hsa-miR-4649-3p	CLIP-seq
MIRT1979507	hsa-miR-374a	CLIP-seq
MIRT1979508	hsa-miR-374b	CLIP-seq
MIRT2518866	hsa-miR-1255a	CLIP-seq
MIRT2518867	hsa-miR-1255b	CLIP-seq
MIRT2518868	hsa-miR-1343	CLIP-seq
MIRT2518869	hsa-miR-1913	CLIP-seq
MIRT2518870	hsa-miR-3125	CLIP-seq
MIRT2518871	hsa-miR-3174	CLIP-seq
MIRT2518872	hsa-miR-3192	CLIP-seq
MIRT2518873	hsa-miR-3197	CLIP-seq
MIRT2518874	hsa-miR-324-3p	CLIP-seq
MIRT2518875	hsa-miR-3616-3p	CLIP-seq
MIRT2518876	hsa-miR-3622b-5p	CLIP-seq
MIRT2518877	hsa-miR-3689a-3p	CLIP-seq
MIRT2518878	hsa-miR-3689c	CLIP-seq
MIRT2518879	hsa-miR-3916	CLIP-seq
MIRT2518880	hsa-miR-4253	CLIP-seq
MIRT2518881	hsa-miR-4299	CLIP-seq
MIRT2518882	hsa-miR-4316	CLIP-seq
MIRT2518883	hsa-miR-4456	CLIP-seq
MIRT2518884	hsa-miR-4481	CLIP-seq
MIRT2518885	hsa-miR-4519	CLIP-seq
MIRT2518886	hsa-miR-4710	CLIP-seq
MIRT2518887	hsa-miR-4728-5p	CLIP-seq
MIRT2518888	hsa-miR-4745-5p	CLIP-seq
MIRT2518889	hsa-miR-4749-3p	CLIP-seq
MIRT2518890	hsa-miR-4758-5p	CLIP-seq
MIRT2518891	hsa-miR-4761-3p	CLIP-seq
MIRT2518892	hsa-miR-4792	CLIP-seq
MIRT2518893	hsa-miR-485-5p	CLIP-seq
MIRT2518894	hsa-miR-490-5p	CLIP-seq
MIRT2518895	hsa-miR-548q	CLIP-seq
MIRT2518896	hsa-miR-582-3p	CLIP-seq
MIRT2518897	hsa-miR-877	CLIP-seq

Show/Hide all (19)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005515	Function	Protein binding	IPI	25416956
GO:0005634	Component	Nucleus	IEA
GO:0005654	Component	Nucleoplasm	IDA
GO:0005737	Component	Cytoplasm	IEA
GO:0005829	Component	Cytosol	TAS
GO:0016740	Function	Transferase activity	IEA
GO:0017183	Process	Protein histidyl modification to diphthamide	IBA
GO:0017183	Process	Protein histidyl modification to diphthamide	IEA
GO:0017183	Process	Protein histidyl modification to diphthamide	ISS
GO:0030054	Component	Cell junction	IDA
GO:0032991	Component	Protein-containing complex	IEA
GO:0046872	Function	Metal ion binding	IEA
GO:0048144	Process	Fibroblast proliferation	IEA
GO:0051536	Function	Iron-sulfur cluster binding	IEA
GO:0051539	Function	4 iron, 4 sulfur cluster binding	ISS
GO:0090560	Function	2-(3-amino-3-carboxypropyl)histidine synthase activity	IEA
GO:0090560	Function	2-(3-amino-3-carboxypropyl)histidine synthase activity	ISS
GO:0120513	Component	2-(3-amino-3-carboxypropyl)histidine synthase complex	IEA
GO:0120513	Component	2-(3-amino-3-carboxypropyl)histidine synthase complex	ISS

MIM	HGNC	e!Ensembl
603527	3003	ENSG00000108963

Q9BZG8

Protein name

2-(3-amino-3-carboxypropyl)histidine synthase subunit 1 (EC 2.5.1.108) (Diphthamide biosynthesis protein 1) (Diphtheria toxin resistance protein 1) (Ovarian cancer-associated gene 1 protein) (S-adenosyl-L-methionine:L-histidine 3-amino-3-carboxypropyltran

Protein function

Catalyzes the first step of diphthamide biosynthesis, a post-translational modification of histidine which occurs in elongation factor 2 (PubMed:30877278). DPH1 and DPH2 transfer a 3-amino-3-carboxypropyl (ACP) group from S-adenosyl-L-methionine

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF01866	Diphthamide_syn	81 → 382	Putative diphthamide synthesis protein	Family

Tissue specificity

TISSUE SPECIFICITY: Expressed in heart, brain, placenta, lung, liver, skeletal muscle, kidney, pancreas, spleen, thymus, mammary gland, colon, small intestine, testis and ovary. Reduced expression in primary breast and ovarian tumors. {ECO:0000269|PubMed:

Sequence

MRRQVMAALVVSGAAEQGGRDGPGRGRAPRGRVANQIPPEILKNPQLQAAIRVLPSNYNF
EIPKTIWRIQQAQAKKVALQMPEGLLLFACTIVDILERFTEAEVMVMGDVTYGACCVDDF
TARALGADFLVHYGHSCLIPMDTSAQDFRVLYVFVDIRIDTTHLLDSLRLTFPPATALAL
VSTIQFVSTLQAAAQELKAEYRVSVPQCKPLSPGEILGCTSPRLSKEVEAVVYLGDGRFH
LESVMIANPNVPAYRYDPYSKVLSREHYDHQRMQAARQEAIATARSAKSWGLILGTLGRQ
GSPKILEHLESRLRALGLSFVRLLLSEIFPSKLSLLPEVDVWVQVACPRLSIDWGTAFPK
PLLTPYEAAVALRDISWQQPYPMDFYAGSSLGPWTVNHGQDRRPHAPGRPARGKVQEGSA
RPPSAVACEDCSCRDEKVAPLAP

Sequence length

443

Interactions

View interactions

	Reactome
			Synthesis of diphthamide-EEF2

Show/Hide Causal Diseases (7)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Cerebellar vermis hypoplasia	Likely pathogenic; Pathogenic	rs730882250	RCV000162191
Dandy-Walker syndrome	Likely pathogenic; Pathogenic	rs730882250	RCV000162191
Developmental delay with short stature, dysmorphic facial features, and sparse hair	Likely pathogenic; Pathogenic	rs2151346853, rs2151347730, rs730882250	RCV001594434 RCV001594435 RCV000210874
Developmental delay with short stature, dysmorphic facial features, and sparse hair 1	Likely pathogenic; Pathogenic	rs1185902827, rs730882250, rs757167361, rs2151341681, rs756128712, rs2067429826, rs772969956	RCV003147670 RCV003147374 RCV004567447 RCV003479657 RCV004569770 RCV004570672 RCV004570673
DPH1-related disorder	Likely pathogenic	rs1185902827	RCV004758196
Global developmental delay	Likely pathogenic; Pathogenic	rs730882250	RCV000162191
Hydrocephalus	Likely pathogenic; Pathogenic	rs730882250	RCV000162191

Show/Hide Text Mining Associations (10)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
3C syndrome	Associate	26220823
Colorectal Neoplasms	Associate	29145210
Congenital Abnormalities	Associate	30877278
Cranioectodermal Dysplasia	Associate	26220823
Craniofacial Abnormalities	Associate	26220823
Developmental Disabilities	Associate	30877278
Growth Disorders	Associate	26220823, 30877278
Intellectual Disability	Associate	26220823
Neoplasms	Associate	29145210
Syndrome	Associate	30877278

DPH1 (diphthamide biosynthesis 1)