Gene

p4htma

ID

ZDB-GENE-070112-2222

Name

prolyl 4-hydroxylase, transmembrane a

Symbol

p4htma Nomenclature History

Previous Names

zgc:158254

Type

protein_coding_gene

Location

Chr: 23 Mapping Details/Browsers

Description

Predicted to contribute to procollagen-proline 4-dioxygenase activity. Predicted to be involved in peptidyl-proline hydroxylation to 4-hydroxy-L-proline. Predicted to localize to endoplasmic reticulum.

Genome Resources

Note

None

Comparative Information

Expression

All Expression Data

No data available

Cross-Species Comparison

High Throughput Data

Expression Atlas

UO scRNA-seq (UCSC browser)

Single Cell Expression Atlas

Daniocell

Thisse Expression Data

No data available

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 p4htma Human Ortholog

Disease Ontology Term	Multi-Species Data	OMIM Term	OMIM Phenotype ID
		Hypotonia, hypoventilation, impaired intellectual development, dysautonomia, epilepsy, and eye abnormalities	618493

Associated With p4htma Via Experimental Models

No data available

Gene Ontology

Protein Domains

Domain, Family, and Site Summary

Type	InterPro ID	Name
Binding_site	IPR018247	EF-Hand 1, calcium-binding site
Domain	IPR005123	Oxoglutarate/iron-dependent dioxygenase domain
Domain	IPR006620	Prolyl 4-hydroxylase, alpha subunit
Domain	IPR044862	Prolyl 4-hydroxylase alpha subunit, Fe(2+) 2OG dioxygenase domain
Family	IPR045054	Prolyl 4-hydroxylase
Homologous_superfamily	IPR011992	EF-hand domain pair