DPH1 - diphthamide biosynthesis 1 Gene

Homo sapiens

Also known as DPH2L; OVCA1; DEDSSH; DPH2L1

Gene ID: 1801 | Gene type: protein coding

About DPH1

Cytogenetic location: 17p13.3 Genomic coordinates (GRCh38): 17:2,030,112-2,043,898 (from NCBI)

This gene has 18 transcripts (splice variants), 208 orthologues, 1 paralogue and is associated with 2 phenotypes. Ubiquitous expression in prostate (RPKM 16.8), thyroid (RPKM 16.0) and 25 other tissues.

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 exotoxin A. Defects in this gene have been associated with both ovarian Cancer and autosomal recessive intellectual disability with short stature, craniofacial, and ectodermal anomalies. [provided by RefSeq, Oct 2016]

DPH1 Products(4)

mRNA	Protein	Name
NM_001346574.1	NP_001333503.1	2-(3-amino-3-carboxypropyl)histidine synthase subunit 1 isoform 2
NM_001346575.1	NP_001333504.1	2-(3-amino-3-carboxypropyl)histidine synthase subunit 1 isoform 3
NM_001346576.2	NP_001333505.1	2-(3-amino-3-carboxypropyl)histidine synthase subunit 1 isoform 4
NM_001383.6	NP_001374.4	2-(3-amino-3-carboxypropyl)histidine synthase subunit 1 isoform 1

DPH1 Protein Structure

Diphthamide_syn

0
100
200
300
400
443 a.a.

Protein Preferred Names

Protein Names

2-(3-amino-3-carboxypropyl)histidine synthase subunit 1

DPH-like 1

Related Diseases

Diseases

Alias

Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 1

Loucks-Innes Syndrome	Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair	DEDSSH1
Diphthamide Deficiency Syndrome 1	Developmental Delay-Short Stature-Dysmorphic Features-Sparse Hair Syndrome
DEDSSH	Developmental Delay With Short Stature, Dysmorphic Features, And Sparse Hair

Dandy-Walker Syndrome

Dandy-Walker Malformation	DWS
Atresia Of Foramina Of Magendie And Luschka	Dandy-Walker Complex
Dandy-Walker Cyst	Dandy-Walker Deformity
Dandy Walker Cyst	Dw Complex
Dandy-Walker Syndrome Or Malformation	Dandy-Walker Variant
Mega Cisterna Magna	Dwm
Hydrocephalus, Internal, Dandy-Walker Type	Hydrocephalus, Noncommunicating, Dandy-Walker Type
Luschka-Magendie Foramina Atresia	Isolated Dandy-Walker Malformation
Mega-Cisterna Magna	Dandy Walker Variant
Atresia Of Foramen Of Luschka	Atresia Of Foramen Of Magendie
Congenital Blockage Of Foramen Magendie

Diphtheria

Corynebacterium Infections	Corynebacterium Infection
Diphtherial Infection	Infection Due To Corynebacterium Diphtheriae

Hydrocephalus

Hydrocephalus, Nonsyndromic, Autosomal Recessive	Hydrocephalus, X-Linked
Hydrocephalus Adverse Event	Hydrocephaly Nos

Ovarian Cancer

Ovarian Carcinoma	Ovarian Neoplasm
Malignant Tumour Of Ovary	Cancer Of The Ovary
Epithelial Ovarian Cancer	Neoplasm Of Ovary
Ovarian Neoplasms	Ovarian Cancers
Malignant Neoplasm Of Ovary	Primary Malignant Neoplasm Of Ovary
Ovarian Cancer, Somatic	Malignant Ovarian Tumor
Ovary Neoplasm	Primary Ovarian Cancer
Tumor Of The Ovary	Malignant Neoplasm Of The Ovary
Malignant Tumor Of The Ovary	Ovarian Malignant Tumor
OC	Ovarian Carcinomas
Cancer, Ovarian	Cancer Of Ovary
Ovary Cancer	Ca Ovary

Ovarian Cancer 1

Ovarian Cancer, Susceptibility To	Ovarian Cancer, Susceptibility To, 1
OVCAS1	Ovarian Cancer
Ovarian Carcinoma	Malignant Neoplasm Of Ovary
Epithelial Ovarian Cancer

Miller-Dieker Lissencephaly Syndrome

Miller-Dieker Syndrome	Mds
MDLS	Miller Dieker Syndrome
Classical Lissencephaly Syndrome	Lissencephaly Due To 17p13.3 Deletion
Monosomy 17p13.3	Telomeric Deletion 17p
Classical Lissencephaly

Neuronopathy, Distal Hereditary Motor, Type Viii

Autosomal Dominant Congenital Benign Spinal Muscular Atrophy	HMN8
Dhmn8	Neuropathy, Distal Hereditary Motor, Type Viii
Distal Hereditary Motor Neuronopathy Type 8	Autosomal Dominant Benign Distal Spinal Muscular Atrophy
Congenital Benign Spinal Muscular Atrophy With Contractures	Congenital Nonprogressive Spinal Muscular Atrophy
Spinal Muscular Atrophy, Distal, Congenital Nonprogressive	Spinal Muscular Atrophy, Congenital Benign, With Contractures
Distal Hereditary Motor Neuropathy Type Viii	Neuronopathy, Distal Hereditary Motor, 8
Distal Spinal Muscular Atrophy, Congenital Non-Progressive	Spinal Muscular Atrophy Congenital Benign With Contractures

Chromosome 17p13.3, Centromeric, Duplication Syndrome

Chromosome 17p13.3 Duplication Syndrome	17p13.3 Duplication Syndrome
17p13.3 Microduplication Syndrome	Trisomy 17p13.3
Chromosome 17p13.3 Centromeric Duplication Syndrome	Dup(17)(P13.3)

Craniosynostosis

Premature Closure Of Cranial Sutures	Craniostenosis
Craniosynostosis Syndrome	Cso
Craniosynostoses	Congenital Ossification Of Cranial Sutures
Congenital Ossification Of Sutures Of Skull	Craniostosis
Imperfect Fusion Of Skull	Congenital Imperfect Closure Skull
Imperfect Closure Skull	Premature Closure Cranium Sutures
Deficiency Of Craniofacial Axis

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS03952	DPH1 Human Pre-designed siRNA Set A		/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Canis familiaris	DPH1	VGNC	VGNC:40067
Rattus norvegicus	DPH1	RGD	RGD:1562694
Macaca mulatta	DPH1	VGNC	VGNC:71973
Felis catus	DPH1	VGNC	VGNC:61596
Mus musculus	DPH1	MGD	MGI:2151233
Bos taurus	DPH1	VGNC	VGNC:28178