Gene

dph5

ID

ZDB-GENE-041114-85

Name

diphthamide biosynthesis 5

Symbol

dph5 Nomenclature History

Previous Names

zgc:101823

Type

protein_coding_gene

Location

Chr: 22 Mapping Details/Browsers

Description

Predicted to enable diphthine methyl ester synthase activity. Predicted to be involved in protein histidyl modification to diphthamide. Predicted to act upstream of or within methylation. Human ortholog(s) of this gene implicated in neurodevelopmental disorder with short stature, prominent forehead, and feeding difficulties. Orthologous to human DPH5 (diphthamide biosynthesis 5).

Genome Resources

Note

None

Comparative Information

Expression

All Expression Data

1 figure from Thisse et al., 2004

Cross-Species Comparison

High Throughput Data

Expression Atlas

UO scRNA-seq (UCSC browser)

Single Cell Expression Atlas

Daniocell

Thisse Expression Data

MGC:101823 (1 image)

Wild Type Expression Summary

Phenotype

All Phenotype Data: No data available
Cross-Species Comparison: Alliance

Phenotype Summary

Mutations

Mutants

Sequence Targeting Reagents

Human Disease

Associated With dph5 Human Ortholog

Disease Ontology Term	Multi-Species Data	OMIM Term	OMIM Phenotype ID
neurodevelopmental disorder with short stature, prominent forehead, and feeding difficulties	Alliance	Neurodevelopmental disorder with short stature, prominent forehead, and feeding difficulties	620070

Associated With dph5 Via Experimental Models

No data available

Gene Ontology

Protein Domains

Domain, Family, and Site Summary

Type	InterPro ID	Name
Domain	IPR000878	Tetrapyrrole methylase
Family	IPR004551	Diphthine synthase
Homologous_superfamily	IPR014776	Tetrapyrrole methylase, subdomain 2
Homologous_superfamily	IPR014777	Tetrapyrrole methylase, subdomain 1
Homologous_superfamily	IPR035996	Tetrapyrrole methylase superfamily