DPH1 - diphthamide biosynthesis 1 Gene

Also Known as DPH2L; OVCA1; DEDSSH; DPH2L1

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 1801

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

Diphthamide_syn: Putative diphthamide synthesis protein (81 - 386)

  • 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

DPH1 Protein-protein interaction Information

Type
Protein Name Protein ID Interactor Interactor Species Interactor ID Detection Method Verweise
Intra
DPH1 Q9BZG8 TFCP2 Homo sapiens Q12800
Y2H Prey Pooling
25416956
Intra
DPH1 Q9BZG8 TFCP2 Homo sapiens Q12800
Y2H Array
25416956
Cross: Cross-species interaction Intra: Intraspecies interaction

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

Related Agents

  • Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (1)
Art. -Nr. Produktname
Wirkung
Reinheit
Rare Diseases
HY-RS03952 DPH1 Human Pre-designed siRNA Set A Pre-designed Set / 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
Others DPH1 NCBI